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 KCNQ4 9132 broad.mit.edu 37 1 41289931 41289931 + Splice_Site SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:41289931G>T uc001cgh.1 + 9 1374 c.1292_splice c.e9+1 p.S431_splice KCNQ4_uc001cgi.1_Intron NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CTGGGGAAAGGTAGGGGCCCC 0.667 ZNHIT6 54680 broad.mit.edu 37 1 86172017 86172017 + Missense_Mutation SNP G C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:86172017G>C uc001dlh.2 - 3 878 c.744C>G c.(742-744)CAC>CAG p.H248Q ZNHIT6_uc010osc.1_Missense_Mutation_p.H209Q NM_017953 NP_060423 Q9NWK9 BCD1_HUMAN zinc finger, HIT type 6 248 HIT-type. box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding large_intestine(1) 1 GTTCTGCTTTGTGTTTCTTTA 0.353 GPR61 83873 broad.mit.edu 37 1 110086728 110086728 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:110086728C>A uc001dxy.2 + 2 1767 c.1084C>A c.(1084-1086)CCA>ACA p.P362T NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 362 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CTTCTTCAAGCCAGCTCCAGA 0.557 LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT - - rs113617356 TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:152681693_152681698delTGTGGT uc001fak.2 + 1 171_176 c.142_147delTGTGGT c.(142-147)TGTGGTdel p.CG48del NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN late cornified envelope 4A 48_49 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 S100A7A 338324 broad.mit.edu 37 1 153391619 153391619 + Splice_Site SNP A T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:153391619A>T uc001fbt.1 + 3 199 c.142_splice c.e3-2 p.D48_splice NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTCTTCACAGGACAAAAAG 0.408 OLFML2B 25903 broad.mit.edu 37 1 161967994 161967994 + Silent SNP G A A rs34123330 byFrequency TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:161967994G>A uc001gbu.2 - 6 1519 c.1095C>T c.(1093-1095)AAC>AAT p.N365N OLFML2B_uc010pkq.1_Silent_p.N366N NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 365 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CGGTCCGAGCGTTCAGGTCGC 0.612 CEP350 9857 broad.mit.edu 37 1 180053197 180053197 + Missense_Mutation SNP C G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:180053197C>G uc001gnt.2 + 31 6552 c.6169C>G c.(6169-6171)CTG>GTG p.L2057V CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.2_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2057 Potential. centrosome|nucleus|spindle ovary(4) 4 GATCAGAGCTCTGAAGGATGA 0.358 DSTYK 25778 broad.mit.edu 37 1 205138447 205138447 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:205138447G>A uc001hbw.2 - 3 1232 c.1168C>T c.(1168-1170)CGT>TGT p.R390C DSTYK_uc001hbx.2_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 390 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 TATTCCAGACGTTTGGGAGTG 0.458 USH2A 7399 broad.mit.edu 37 1 216138718 216138718 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr1:216138718C>T uc001hku.1 - 37 7448 c.7061G>A c.(7060-7062)CGC>CAC p.R2354H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2354 Extracellular (Potential).|Fibronectin type-III 10. R -> H (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCATTAGGGCGAAAAGGTGC 0.403 HNSCC(13;0.011) HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 SFTPD 6441 broad.mit.edu 37 10 81701253 81701253 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr10:81701253C>T uc001kbh.2 - 6 611 c.568G>A c.(568-570)GGT>AGT p.G190S MBL1P_uc001kbf.2_Intron NM_003019 NP_003010 P35247 SFTPD_HUMAN pulmonary surfactant-associated protein D 190 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding skin(1) 1 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CCCTGGGGACCCATGGCTCCA 0.507 MUC5B 727897 broad.mit.edu 37 11 1270908 1270908 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:1270908G>A uc009ycr.1 + 51 14343 c.14217G>A c.(14215-14217)ACG>ACA p.T4739T MUC5B_uc001ltb.2_Silent_p.T4269T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4266 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGGATCCACGGCCACCCCGT 0.647 TRIM21 6737 broad.mit.edu 37 11 4409705 4409705 + Frame_Shift_Del DEL T - - TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:4409705delT uc001lyy.1 - 4 673 c.560delA c.(559-561)AACfs p.N187fs NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 187 Potential. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGAAGTTTTTTTGCTG 0.483 OR52A1 23538 broad.mit.edu 37 11 5172692 5172692 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:5172692C>T uc010qyy.1 - 1 908 c.908G>A c.(907-909)CGC>CAC p.R303H NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 303 Cytoplasmic (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACATGAATGCGAATCTGTGT 0.358 PDE3B 5140 broad.mit.edu 37 11 14825558 14825558 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:14825558C>A uc001mln.2 + 5 1837 c.1484C>A c.(1483-1485)TCT>TAT p.S495Y PDE3B_uc010rcr.1_Missense_Mutation_p.S444Y NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 495 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 AGGTCATCTTCTGTATCACTG 0.358 OR4A47 403253 broad.mit.edu 37 11 48511019 48511019 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:48511019C>A uc010rhx.1 + 1 675 c.675C>A c.(673-675)AAC>AAA p.N225K NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTTAAAGAACCTTAGTCAGA 0.438 OR4A5 81318 broad.mit.edu 37 11 51412194 51412194 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:51412194C>A uc001nhi.1 - 1 202 c.202G>T c.(202-204)GAT>TAT p.D68Y NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) TATGCAGCATCTATAAATGAC 0.438 OR8I2 120586 broad.mit.edu 37 11 55861592 55861592 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:55861592C>T uc010rix.1 + 1 809 c.809C>T c.(808-810)GCG>GTG p.A270V NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CTGACCCAGGCGCAGGTGGCA 0.453 FAT3 120114 broad.mit.edu 37 11 92532113 92532113 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr11:92532113C>T uc001pdj.3 + 9 5951 c.5934C>T c.(5932-5934)AGC>AGT p.S1978S NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1978 Cadherin 17.|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) CCATGGACAGCGGCCTCCACT 0.433 TCGA Ovarian(4;0.039) DDX12 440081 broad.mit.edu 37 12 9572801 9572801 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:9572801C>T uc010sgs.1 - 22 2448 c.2253G>A c.(2251-2253)GCG>GCA p.A751A DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 ACCTGGAATACGCCAGCAGCA 0.557 CLEC1A 51267 broad.mit.edu 37 12 10233990 10233990 + Silent SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:10233990G>T uc001qxb.2 - 3 321 c.237C>A c.(235-237)TCC>TCA p.S79S CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.S36S|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 79 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 GACCAGTATTGGAGAGCTGGT 0.378 PRB1 5542 broad.mit.edu 37 12 11506753 11506753 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:11506753C>A uc001qzw.1 - 3 321 c.284G>T c.(283-285)GGA>GTA p.G95V PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 156 6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGTTTTCCTGGAGGAGA 0.607 ATP2B1 490 broad.mit.edu 37 12 90024361 90024361 + Silent SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:90024361T>C uc001tbh.2 - 5 1030 c.849A>G c.(847-849)CAA>CAG p.Q283Q ATP2B1_uc001tbg.2_Silent_p.Q283Q NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 283 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TAATTCCAGTTTGAGAATTTA 0.244 IGF1 3479 broad.mit.edu 37 12 102869429 102869429 + Missense_Mutation SNP A C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:102869429A>C uc001tjp.3 - 2 431 c.212T>G c.(211-213)TTT>TGT p.F71C IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 71 B. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 ACTGAAATAAAAGCCCCTGTC 0.537 ANAPC7 51434 broad.mit.edu 37 12 110825638 110825638 + Nonsense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:110825638G>A uc001tqo.2 - 5 683 c.682C>T c.(682-684)CAA>TAA p.Q228* ANAPC7_uc001tqp.3_Nonsense_Mutation_p.Q228* NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 GGCACGGTTTGGATCACATTC 0.463 PTPN11 5781 broad.mit.edu 37 12 112926900 112926900 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:112926900C>A uc001ttx.2 + 13 1900 c.1520C>A c.(1519-1521)ACA>AAA p.T507K NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 511 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.T507K(3) haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 ATGGTCCAGACAGAAGCACAG 0.478 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome RBM19 9904 broad.mit.edu 37 12 114383718 114383718 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:114383718C>A uc009zwi.2 - 13 1685 c.1541G>T c.(1540-1542)TGG>TTG p.W514L RBM19_uc001tvn.3_Missense_Mutation_p.W514L|RBM19_uc001tvm.2_Missense_Mutation_p.W514L NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 514 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TAGTGTGTTCCAGTTGTGAGA 0.542 TCTN2 79867 broad.mit.edu 37 12 124175182 124175182 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:124175182G>A uc001ufp.2 + 8 1122 c.994G>A c.(994-996)GGT>AGT p.G332S TCTN2_uc009zya.2_Missense_Mutation_p.G331S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 332 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) AGAACGAGATGGTATTATCAA 0.388 NCOR2 9612 broad.mit.edu 37 12 124915195 124915195 + Frame_Shift_Del DEL G - - TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr12:124915195delG uc010tba.1 - 9 1138 c.1021delC c.(1021-1023)CGCfs p.R341fs NCOR2_uc010tay.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 341 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGCTGCTTGCGGATCTCAGGG 0.672 HSPH1 10808 broad.mit.edu 37 13 31713139 31713139 + Missense_Mutation SNP T A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr13:31713139T>A uc001utj.2 - 15 2484 c.2086A>T c.(2086-2088)ATG>TTG p.M696L HSPH1_uc001utk.2_Missense_Mutation_p.M652L|HSPH1_uc010aaw.2_Missense_Mutation_p.M655L|HSPH1_uc001utl.2_Missense_Mutation_p.M698L|HSPH1_uc010tds.1_Missense_Mutation_p.M620L NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 696 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CGACCTACCATTAATTCTTCC 0.299 CCDC70 83446 broad.mit.edu 37 13 52439731 52439731 + Nonsense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr13:52439731C>T uc001vfu.3 + 2 513 c.217C>T c.(217-219)CGA>TGA p.R73* uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 73 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GTGGACTTTCCGAGGCAAGAT 0.458 MUDENG 55745 broad.mit.edu 37 14 57741370 57741370 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr14:57741370C>A uc001xcv.2 + 2 910 c.483C>A c.(481-483)GAC>GAA p.D161E MUDENG_uc001xcu.3_Missense_Mutation_p.D161E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.D58E NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 161 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 AGTTGCCTGACTTGCTTCTGC 0.368 BCL11B 64919 broad.mit.edu 37 14 99641920 99641920 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr14:99641920G>A uc001yga.2 - 4 1520 c.1253C>T c.(1252-1254)CCG>CTG p.P418L BCL11B_uc001ygb.2_Missense_Mutation_p.P347L NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 418 nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CTGCGGGGGCGGCGTGCCGCC 0.687 T TLX3 T-ALL GABRB3 2562 broad.mit.edu 37 15 26828530 26828530 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr15:26828530G>A uc001zaz.2 - 5 635 c.493C>T c.(493-495)CTC>TTC p.L165F GABRB3_uc010uae.1_Missense_Mutation_p.L80F|GABRB3_uc001zba.2_Missense_Mutation_p.L165F|GABRB3_uc001zbb.2_Missense_Mutation_p.L221F NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 165 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TATCTCCTGAGGTCCATCATG 0.453 ZNF770 54989 broad.mit.edu 37 15 35274803 35274803 + Missense_Mutation SNP G C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr15:35274803G>C uc001ziw.2 - 3 1144 c.833C>G c.(832-834)TCT>TGT p.S278C NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) ATTCTCCTCAGATTCACCAAT 0.388 UACA 55075 broad.mit.edu 37 15 70957092 70957092 + Missense_Mutation SNP A T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr15:70957092A>T uc002asr.2 - 17 4126 c.4022T>A c.(4021-4023)CTC>CAC p.L1341H UACA_uc010uke.1_Missense_Mutation_p.L1232H|UACA_uc002asq.2_Missense_Mutation_p.L1328H NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 1341 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TGTGTAGGTGAGTTGGGAAAG 0.433 Unknown 0 broad.mit.edu 37 15 102292837 102292837 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr15:102292837G>A uc010usj.1 + 4 484 c.425G>A c.(424-426)AGG>AAG p.R142K uc002bxo.2_5'Flank|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment; CACTCGTGGAGGCGTCGGCAG 0.602 C16orf45 89927 broad.mit.edu 37 16 15609227 15609227 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr16:15609227G>A uc002ddo.2 + 2 358 c.172G>A c.(172-174)GCA>ACA p.A58T C16orf45_uc002ddp.2_Missense_Mutation_p.A41T NM_033201 NP_149978 Q96MC5 CP045_HUMAN hypothetical protein LOC89927 isoform 1 58 ovary(1) 1 GCTGGAGATGGCAAAAATTCA 0.527 ATP2A1 487 broad.mit.edu 37 16 28913648 28913648 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr16:28913648G>A uc002dro.1 + 17 2649 c.2465G>A c.(2464-2466)CGG>CAG p.R822Q uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 822 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CGCCCCCCCCGGAGCCCCAAG 0.657 DHRS7C 201140 broad.mit.edu 37 17 9684903 9684903 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr17:9684903G>A uc010vvb.1 - 2 163 c.163C>T c.(163-165)CGG>TGG p.R55W DHRS7C_uc010cof.2_Missense_Mutation_p.R55W NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 55 NAD or NADP (By similarity). extracellular region binding|oxidoreductase activity 0 TGGAACACCCGAGCACACTCT 0.547 MAP2K3 5606 broad.mit.edu 37 17 21206533 21206533 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr17:21206533G>A uc002gys.2 + 7 820 c.555G>A c.(553-555)TCG>TCA p.S185S MAP2K3_uc002gyt.2_Silent_p.S156S|MAP2K3_uc002gyu.2_Silent_p.S156S NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 185 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GCAAGCTGTCGGTGATCCACA 0.622 MYO18A 399687 broad.mit.edu 37 17 27422043 27422043 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr17:27422043C>A uc002hdt.1 - 29 4578 c.4420G>T c.(4420-4422)GCC>TCC p.A1474S MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1474 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCCCGCTGGGCCTCCTCATGC 0.627 IKZF3 22806 broad.mit.edu 37 17 37922611 37922611 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr17:37922611C>T uc002hsu.2 - 8 1024 c.962G>A c.(961-963)CGC>CAC p.R321H IKZF3_uc002htd.2_Missense_Mutation_p.R287H|IKZF3_uc010cwd.2_Missense_Mutation_p.R178H|IKZF3_uc002hsv.2_Missense_Mutation_p.R248H|IKZF3_uc010cwe.2_Missense_Mutation_p.R187H|IKZF3_uc010cwf.2_Missense_Mutation_p.R139H|IKZF3_uc010cwg.2_Missense_Mutation_p.R100H|IKZF3_uc002hsw.2_Missense_Mutation_p.R282H|IKZF3_uc002hsx.2_Missense_Mutation_p.R265H|IKZF3_uc002hsy.2_Missense_Mutation_p.R282H|IKZF3_uc002hsz.2_Missense_Mutation_p.R226H|IKZF3_uc002hta.2_Missense_Mutation_p.R243H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R234H|IKZF3_uc002htc.2_Missense_Mutation_p.R74H|IKZF3_uc010wel.1_Missense_Mutation_p.R74H NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 321 R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431). B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GACCAAGGGGCGCAGGGCTTC 0.547 RPTOR 57521 broad.mit.edu 37 17 78727945 78727945 + Missense_Mutation SNP A C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr17:78727945A>C uc002jyt.1 + 6 1595 c.790A>C c.(790-792)ACC>CCC p.T264P RPTOR_uc002jys.2_Missense_Mutation_p.T264P|RPTOR_uc010wuf.1_Missense_Mutation_p.T79P|RPTOR_uc010wug.1_Missense_Mutation_p.T264P NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 264 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TGACCTATTCACCTCCTGCCT 0.657 APCDD1 147495 broad.mit.edu 37 18 10471619 10471619 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr18:10471619G>A uc002kom.3 + 3 689 c.335G>A c.(334-336)AGC>AAC p.S112N NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 112 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) TATTATGGCAGCAACCGGTGC 0.532 MUC16 94025 broad.mit.edu 37 19 9084743 9084743 + Silent SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:9084743G>T uc002mkp.2 - 1 7276 c.7072C>A c.(7072-7074)CGG>AGG p.R2358R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2358 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R2358P(1) lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTTGTTTTCCGTGCGTCAAGG 0.433 SMARCA4 6597 broad.mit.edu 37 19 11136160 11136160 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:11136160C>T uc002mqf.3 + 22 3428 c.3144C>T c.(3142-3144)CAC>CAT p.H1048H SMARCA4_uc010dxp.2_Silent_p.H1048H|SMARCA4_uc010dxo.2_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.2_Silent_p.H1048H|SMARCA4_uc010dxr.2_Silent_p.H1048H|SMARCA4_uc002mqj.3_Silent_p.H1048H|SMARCA4_uc010dxs.2_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.3_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1048 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TCTGCAACCACCCCTACATGT 0.617 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome CEACAM7 1087 broad.mit.edu 37 19 42191016 42191016 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:42191016C>A uc002ori.1 - 2 203 c.201G>T c.(199-201)TGG>TGT p.W67C CEACAM7_uc010ehx.2_Missense_Mutation_p.W67C|CEACAM7_uc010ehy.1_Missense_Mutation_p.W67C NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 67 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) CCCCTTTGTACCAGTTGTAGC 0.458 CCDC8 83987 broad.mit.edu 37 19 46915568 46915568 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:46915568G>A uc002pep.2 - 1 1352 c.500C>T c.(499-501)CCG>CTG p.P167L NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 167 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GCGGGCAGGCGGCGCGCTGGG 0.647 PRKCG 5582 broad.mit.edu 37 19 54401216 54401216 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:54401216G>A uc002qcq.1 + 10 1225 c.943G>A c.(943-945)GTG>ATG p.V315M PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 315 RVRM -> VSRT (in Ref. 3; AAA60102). activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TCCACAGCGGGTGCGGATGGG 0.468 KIR3DL1 3811 broad.mit.edu 37 19 55378070 55378070 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:55378070C>A uc002qhl.3 + 9 1315 c.1252C>A c.(1252-1254)CCC>ACC p.P418T KIR3DL2_uc010esh.2_Missense_Mutation_p.P401T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P418T P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 418 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TTCTCAGAGGCCCAAGACACC 0.522 NLRP7 199713 broad.mit.edu 37 19 55451740 55451740 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:55451740G>A uc002qih.3 - 4 523 c.447C>T c.(445-447)GAC>GAT p.D149D NLRP7_uc002qig.3_Silent_p.D149D|NLRP7_uc002qii.3_Silent_p.D149D|NLRP7_uc010esk.2_Silent_p.D149D|NLRP7_uc010esl.2_Silent_p.D177D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 149 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TCAGAGTGACGTCGTCATGGA 0.498 NLRP4 147945 broad.mit.edu 37 19 56382210 56382210 + Missense_Mutation SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr19:56382210T>C uc002qmd.3 + 7 2794 c.2372T>C c.(2371-2373)CTC>CCC p.L791P NLRP4_uc002qmf.2_Missense_Mutation_p.L716P|NLRP4_uc010etf.2_Missense_Mutation_p.L566P NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 791 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTCTGCCACCTCAGCGAGCAG 0.498 ASAP2 8853 broad.mit.edu 37 2 9347326 9347326 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:9347326G>A uc002qzh.2 + 1 433 c.93G>A c.(91-93)GCG>GCA p.A31A ASAP2_uc002qzi.2_Silent_p.A31A NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 31 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 CCCGCACGGCGCAGTGCCGGA 0.731 EHD3 30845 broad.mit.edu 37 2 31484555 31484555 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:31484555C>A uc002rnu.2 + 5 1664 c.1056C>A c.(1054-1056)GAC>GAA p.D352E EHD3_uc010ymt.1_Intron NM_014600 NP_055415 Q9NZN3 EHD3_HUMAN EH-domain containing 3 352 blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CACCTGGGGACTTCCCCAATC 0.592 BCL11A 53335 broad.mit.edu 37 2 60689292 60689292 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:60689292G>A uc002sae.1 - 4 983 c.755C>T c.(754-756)TCC>TTC p.S252F BCL11A_uc002sab.2_Missense_Mutation_p.S252F|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 252 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCCAGGCCGGAAGCCTCTCT 0.567 T IGH@ B-CLL CKAP2L 150468 broad.mit.edu 37 2 113514622 113514622 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:113514622G>A uc002tie.2 - 4 405 c.326C>T c.(325-327)TCT>TTT p.S109F CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 109 centrosome 0 TGGGTTAGAAGAAACACATTC 0.473 MARCO 8685 broad.mit.edu 37 2 119726837 119726837 + Missense_Mutation SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:119726837G>T uc002tln.1 + 2 331 c.199G>T c.(199-201)GTT>TTT p.V67F MARCO_uc010yyf.1_5'UTR NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 67 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGTGGTCCAAGGTAAAGCAGG 0.612 LRP1B 53353 broad.mit.edu 37 2 141143511 141143511 + Silent SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:141143511C>A uc002tvj.1 - 67 11454 c.10482G>T c.(10480-10482)CGG>CGT p.R3494R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3494 Extracellular (Potential).|LDL-receptor class A 25. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGCTATCACACCGCCAGTGAT 0.378 TSP Lung(27;0.18) CSRNP3 80034 broad.mit.edu 37 2 166535947 166535947 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:166535947C>T uc002udf.2 + 7 1818 c.1442C>T c.(1441-1443)GCC>GTC p.A481V CSRNP3_uc002udg.2_Missense_Mutation_p.A481V NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 481 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 GTTGACTATGCCCGACAAGCA 0.512 SP5 389058 broad.mit.edu 37 2 171573817 171573817 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:171573817G>A uc002uge.2 + 2 1266 c.1100G>A c.(1099-1101)CGC>CAC p.R367H NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 367 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGCTTCATGCGCAGCGACCAC 0.647 TTN 7273 broad.mit.edu 37 2 179613920 179613920 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:179613920C>A uc002unb.2 - 46 13431 c.13207G>T c.(13207-13209)GGT>TGT p.G4403C TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGATCTACCAAGTTTTCCA 0.328 SF3B1 23451 broad.mit.edu 37 2 198267454 198267454 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:198267454C>A uc002uue.2 - 14 1951 c.1903G>T c.(1903-1905)GTA>TTA p.V635L NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 635 HEAT 3. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCAGAGGCTACAACAGCAAAA 0.448 SGOL2 151246 broad.mit.edu 37 2 201437781 201437781 + Missense_Mutation SNP T G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:201437781T>G uc002uvw.2 + 7 2825 c.2712T>G c.(2710-2712)AAT>AAG p.N904K SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 904 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 CAAAAATAAATAAGCTCAGGA 0.299 CPS1 1373 broad.mit.edu 37 2 211515146 211515146 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:211515146C>T uc002vee.3 + 28 3596 c.3464C>T c.(3463-3465)GCG>GTG p.A1155V CPS1_uc010fur.2_Missense_Mutation_p.A1161V|CPS1_uc010fus.2_Missense_Mutation_p.A704V NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1155 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTAGAAGAGGCGACTAGAGTT 0.368 UGT1A9 54600 broad.mit.edu 37 2 234581022 234581022 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr2:234581022G>A uc002vus.2 + 1 479 c.442G>A c.(442-444)GAT>AAT p.D148N UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.D148N NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 148 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) AGTGTTTCTCGATCCTTTTGA 0.373 SLC7A4 6545 broad.mit.edu 37 22 21384419 21384419 + Missense_Mutation SNP A G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr22:21384419A>G uc002zud.2 - 3 1272 c.1204T>C c.(1204-1206)TAC>CAC p.Y402H SLC7A4_uc002zue.2_Missense_Mutation_p.Y402H NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 402 Helical; (Potential). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ACGAATGTGTAGGCCAGGAGT 0.657 RRP7A 27341 broad.mit.edu 37 22 42910784 42910784 + Silent SNP C T T rs146741450 by1000genomes TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr22:42910784C>T uc003bcq.2 - 5 478 c.462G>A c.(460-462)AAG>AAA p.K154K SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.K177K NM_015703 NP_056518 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A 154 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 CACTGATCCACTCTGAGGAAA 0.602 MOV10L1 54456 broad.mit.edu 37 22 50596619 50596619 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr22:50596619C>T uc003bjj.2 + 23 3283 c.3200C>T c.(3199-3201)ACG>ATG p.T1067M MOV10L1_uc003bjk.3_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.1_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.2_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 1067 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GGCGTCATCACGCCCTACCGG 0.657 ITPR1 3708 broad.mit.edu 37 3 4699832 4699832 + Nonsense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:4699832C>T uc003bqa.2 + 13 1369 c.1021C>T c.(1021-1023)CGA>TGA p.R341* ITPR1_uc010hca.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Nonsense_Mutation_p.R326* NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 341 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGACGCCTCTCGAAGTAGGTT 0.488 SLC6A6 6533 broad.mit.edu 37 3 14513770 14513770 + Missense_Mutation SNP C G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:14513770C>G uc010heg.2 + 17 1445 c.1154C>G c.(1153-1155)ACA>AGA p.T385R SLC6A6_uc003byq.2_Missense_Mutation_p.T385R|SLC6A6_uc003byr.2_RNA NM_001134367 NP_001127839 P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter 385 Helical; Name=8; (Potential). cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity ovary(1) 1 CCGCTGCCCACATTTTGGTCC 0.537 C3orf20 84077 broad.mit.edu 37 3 14799033 14799033 + Missense_Mutation SNP G A A rs151210868 TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:14799033G>A uc003byy.2 + 13 2500 c.2096G>A c.(2095-2097)CGC>CAC p.R699H C3orf20_uc003byz.2_Missense_Mutation_p.R577H|C3orf20_uc003bza.2_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.1_Missense_Mutation_p.R26H NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 699 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GAGCTGGAGCGCTTCCTGTTG 0.627 TTC21A 199223 broad.mit.edu 37 3 39156148 39156148 + Missense_Mutation SNP G C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:39156148G>C uc003cjc.2 + 6 808 c.631G>C c.(631-633)GGG>CGG p.G211R TTC21A_uc003cja.2_Missense_Mutation_p.G211R|TTC21A_uc010hho.1_Missense_Mutation_p.G133R|TTC21A_uc003cjb.2_Missense_Mutation_p.R77T|TTC21A_uc003cje.2_Missense_Mutation_p.G211R|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 211 TPR 4. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TGTGACTTCAGGGAGCTTCCT 0.552 CACNA2D2 9254 broad.mit.edu 37 3 50416395 50416395 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:50416395C>T uc003daq.2 - 13 1328 c.1290G>A c.(1288-1290)CAG>CAA p.Q430Q CACNA2D2_uc003dap.2_Silent_p.Q430Q NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 430 VWFA.|Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CATAGTTATGCTGCCCCACGG 0.587 ACOX2 8309 broad.mit.edu 37 3 58520774 58520774 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:58520774G>A uc003dkl.2 - 2 235 c.60C>T c.(58-60)CCC>CCT p.P20P NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 20 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TCTCTATGTCGGGGTGCATTT 0.552 KLF15 28999 broad.mit.edu 37 3 126071173 126071173 + Missense_Mutation SNP C G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:126071173C>G uc011bkk.1 - 2 775 c.593G>C c.(592-594)GGT>GCT p.G198A NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 198 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) TGCACTGGCACCACCTGGTGG 0.662 COL6A6 131873 broad.mit.edu 37 3 130325803 130325803 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:130325803G>A uc010htl.2 + 20 4713 c.4682G>A c.(4681-4683)GGC>GAC p.G1561D COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1561 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GGACATACAGGCCCACAGGTA 0.353 CPB1 1360 broad.mit.edu 37 3 148562321 148562321 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:148562321C>A uc003ewl.2 + 7 656 c.633C>A c.(631-633)GAC>GAA p.D211E NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 211 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ACAAGTTAGACTTTTATGTCC 0.413 SLC7A14 57709 broad.mit.edu 37 3 170198876 170198876 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr3:170198876C>A uc003fgz.2 - 7 1511 c.1195G>T c.(1195-1197)GCA>TCA p.A399S CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 399 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ACCAACAGTGCGAGGAGCGCT 0.592 DRD5 1816 broad.mit.edu 37 4 9784478 9784478 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr4:9784478C>A uc003gmb.3 + 1 1221 c.825C>A c.(823-825)AGC>AGA p.S275R NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 275 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCCGGAGCAGCGCAGCCTGCG 0.637 BOD1L 259282 broad.mit.edu 37 4 13583896 13583896 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr4:13583896C>T uc003gmz.1 - 19 8674 c.8557G>A c.(8557-8559)GAG>AAG p.E2853K NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2853 DNA binding ovary(5)|breast(1) 6 TCGTTCTGCTCTGGCTTTTCA 0.383 EGF 1950 broad.mit.edu 37 4 110915953 110915953 + Silent SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr4:110915953T>C uc003hzy.3 + 20 3374 c.2922T>C c.(2920-2922)TCT>TCC p.S974S EGF_uc011cfu.1_Silent_p.S932S|EGF_uc011cfv.1_Silent_p.S933S|EGF_uc010imk.2_Silent_p.S122S NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 974 EGF-like 9.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATAGTGACTCTGAATGTCCCC 0.438 PRDM9 56979 broad.mit.edu 37 5 23522495 23522495 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:23522495G>A uc003jgo.2 + 7 773 c.591G>A c.(589-591)CCG>CCA p.P197P NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 197 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TCAGCGAGCCGCAGGATGATG 0.443 HNSCC(3;0.000094) NDUFAF2 91942 broad.mit.edu 37 5 60368982 60368982 + Missense_Mutation SNP A G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:60368982A>G uc003jsp.3 + 2 285 c.158A>G c.(157-159)GAA>GGA p.E53G NDUFAF2_uc003jso.3_Intron NM_174889 NP_777549 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 53 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity 0 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) AGAATTGTAGAAGCAGCAAAT 0.323 PCDHA5 56143 broad.mit.edu 37 5 140202989 140202989 + Silent SNP T A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:140202989T>A uc003lhl.2 + 1 1629 c.1629T>A c.(1627-1629)CCT>CCA p.P543P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P543P|PCDHA5_uc003lhj.1_Silent_p.P543P NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 543 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGCCGCCTCTGGGCAGCA 0.701 PCDHGA12 26025 broad.mit.edu 37 5 140810930 140810930 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:140810930C>T uc003lkt.1 + 1 773 c.604C>T c.(604-606)CGC>TGC p.R202C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R202C NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 202 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGGACCGCGAAGAAAA 0.627 HAVCR1 26762 broad.mit.edu 37 5 156476070 156476070 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:156476070G>A uc010jij.1 - 5 945 c.760C>T c.(760-762)CCA>TCA p.P254S HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 249 Extracellular (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAGTACAATGGTGAGCTGGTG 0.438 SLIT3 6586 broad.mit.edu 37 5 168100307 168100307 + Missense_Mutation SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr5:168100307T>C uc003mab.2 - 33 4136 c.3716A>G c.(3715-3717)CAC>CGC p.H1239R SLIT3_uc010jjg.2_Missense_Mutation_p.H1246R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1239 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCACACTGTGAAACTGCCC 0.567 BTBD9 114781 broad.mit.edu 37 6 38256182 38256182 + Silent SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr6:38256182G>T uc003ooa.3 - 9 1896 c.1320C>A c.(1318-1320)GTC>GTA p.V440V BTBD9_uc003ony.3_Silent_p.V372V|BTBD9_uc010jwv.2_Silent_p.V401V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.V440V NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 440 cell adhesion 0 GGCTCCGACTGACTCCTTCAA 0.463 SLC29A1 2030 broad.mit.edu 37 6 44198124 44198124 + Silent SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr6:44198124T>C uc003owu.1 + 6 824 c.495T>C c.(493-495)GCT>GCC p.A165A SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc003oww.1_Silent_p.A244A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 165 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) TTGGTCTGGCTGGCCTTCTGC 0.627 IMPG1 3617 broad.mit.edu 37 6 76744406 76744406 + Missense_Mutation SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr6:76744406T>C uc003pik.1 - 3 530 c.400A>G c.(400-402)ACC>GCC p.T134A NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 134 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AGGCAGAAGGTCTCCTGCTGG 0.498 IL22RA2 116379 broad.mit.edu 37 6 137482860 137482860 + Silent SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr6:137482860G>A uc003qhl.2 - 2 328 c.27C>T c.(25-27)GGC>GGT p.G9G IL22RA2_uc003qhm.2_Silent_p.G9G|IL22RA2_uc003qhn.2_Silent_p.G9G NM_052962 NP_443194 Q969J5 I22R2_HUMAN interleukin 22-binding protein isoform 1 9 regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) TGATGAGGAAGCCTAGAAAGC 0.413 EZR 7430 broad.mit.edu 37 6 159239121 159239121 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr6:159239121G>A uc003qrt.3 - 1 220 c.5C>T c.(4-6)CCG>CTG p.P2L EZR_uc011efs.1_Missense_Mutation_p.P2L|EZR_uc003qru.3_Missense_Mutation_p.P2L NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 2 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TACTGGTTTCGGCATTTTCGG 0.577 DNAH11 8701 broad.mit.edu 37 7 21657267 21657267 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:21657267G>A uc003svc.2 + 23 4172 c.4141G>A c.(4141-4143)GTC>ATC p.V1381I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1381 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGAAGTCCGCGTCTGGGATGC 0.483 Kartagener_syndrome CLK2P 1197 broad.mit.edu 37 7 23625496 23625496 + Missense_Mutation SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:23625496T>C uc003swk.2 - 1 651 c.1A>G c.(1-3)ATG>GTG p.M1V NR_002711 SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2; 0 CAGTCAAACATCTGGACACAG 0.473 CALN1 83698 broad.mit.edu 37 7 71275406 71275406 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:71275406C>T uc003twa.3 - 5 974 c.447G>A c.(445-447)ACG>ACA p.T149T CALN1_uc003twb.3_Silent_p.T191T|CALN1_uc003twc.3_Silent_p.T149T NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 149 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGTCCTTCATCGTTAGGTGGT 0.463 PMPCB 9512 broad.mit.edu 37 7 102937947 102937947 + Missense_Mutation SNP C A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:102937947C>A uc003vbl.2 + 1 75 c.41C>A c.(40-42)GCG>GAG p.A14E PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbk.1_Missense_Mutation_p.A14E|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 14 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 TCATCCGCGGCGCGGCGGCGG 0.652 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) WEE2 494551 broad.mit.edu 37 7 141429401 141429401 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:141429401G>A uc003vwn.2 + 11 2012 c.1606G>A c.(1606-1608)GGG>AGG p.G536R FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 536 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) TGGGGTCTCTGGGACCCACAC 0.522 GIMAP8 155038 broad.mit.edu 37 7 150171495 150171495 + Missense_Mutation SNP A G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:150171495A>G uc003whj.2 + 4 1408 c.1078A>G c.(1078-1080)ATC>GTC p.I360V NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 360 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGAGTACATGATCATACTTCT 0.403 GIMAP1 170575 broad.mit.edu 37 7 150417944 150417944 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr7:150417944C>T uc003whq.2 + 3 939 c.852C>T c.(850-852)GGC>GGT p.G284G GIMAP1_uc003whp.2_Silent_p.G292G NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 284 Helical; Anchor for type IV membrane protein; (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGGGGGGCGCGCTCCTGT 0.687 PTDSS1 9791 broad.mit.edu 37 8 97296348 97296348 + Missense_Mutation SNP C G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr8:97296348C>G uc003yht.1 + 3 385 c.283C>G c.(283-285)CGA>GGA p.R95G PTDSS1_uc003yhu.1_Intron NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 95 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TCCGTTCACTCGACCTCATCC 0.353 HSD17B3 3293 broad.mit.edu 37 9 99064323 99064323 + Missense_Mutation SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr9:99064323C>T uc004awa.1 - 1 112 c.64G>A c.(64-66)GCG>ACG p.A22T HSD17B3_uc010msc.1_Missense_Mutation_p.A22T NM_000197 NP_000188 P37058 DHB3_HUMAN estradiol 17 beta-dehydrogenase 3 22 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity 0 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) ACGCACTTCGCCAGGCAGGCC 0.547 UCK1 83549 broad.mit.edu 37 9 134400596 134400596 + Missense_Mutation SNP A G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chr9:134400596A>G uc004cay.2 - 7 766 c.665T>C c.(664-666)CTG>CCG p.L222P UCK1_uc010mzk.2_Missense_Mutation_p.L213P|UCK1_uc004cba.2_Silent_p.P190P|UCK1_uc004caz.2_RNA NM_031432 NP_113620 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 isoform a 222 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) CTGCACGATCAGGTTGATGGC 0.597 SHROOM2 357 broad.mit.edu 37 X 9905429 9905429 + Silent SNP C T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:9905429C>T uc004csu.1 + 7 3933 c.3843C>T c.(3841-3843)CCC>CCT p.P1281P SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1281 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) CGGCTGAGCCCCAGCCCCTGG 0.642 SRPX 8406 broad.mit.edu 37 X 38009054 38009054 + Silent SNP A G G TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:38009054A>G uc004ddy.1 - 10 1391 c.1305T>C c.(1303-1305)CCT>CCC p.P435P SRPX_uc004ddz.1_Silent_p.P415P|SRPX_uc011mkh.1_Silent_p.P376P|SRPX_uc011mki.1_3'UTR NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 435 cell adhesion cell surface|membrane 0 ACAGGGCCACAGGCATCACCA 0.502 WDR45 11152 broad.mit.edu 37 X 48935362 48935362 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:48935362G>A uc004dmk.1 - 4 347 c.175C>T c.(175-177)CGC>TGC p.R59C PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dml.1_Missense_Mutation_p.R59C|WDR45_uc004dmm.1_Intron|WDR45_uc010nim.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Missense_Mutation_p.R81C|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.1_Missense_Mutation_p.R59C NM_001029896 NP_001025067 Q9Y484 WIPI4_HUMAN WD repeat domain 45 isoform 2 59 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 AGGTTGGAGCGGTGCAGCATC 0.607 OPN1LW 5956 broad.mit.edu 37 X 153416186 153416186 + Silent SNP T C C TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:153416186T>C uc004fjz.3 + 2 204 c.171T>C c.(169-171)AGT>AGC p.S57S NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 57 Helical; Name=1; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCTCACCAGTGTCTGGATGA 0.587 RPL10 6134 broad.mit.edu 37 X 153628824 153628824 + Missense_Mutation SNP G A A TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:153628824G>A uc004fkm.2 + 6 537 c.349G>A c.(349-351)GGT>AGT p.G117S uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 117 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGCATGCGAGGTGCCTTTGG 0.527 VAMP7 6845 broad.mit.edu 37 X 155130194 155130194 + Missense_Mutation SNP G T T TCGA-14-3476-01B-01D-1353-08 TCGA-14-3476-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 37f51be9-2c41-476e-b153-c5c0a52c3d2f 03da9810-f78d-4eec-bd34-20fc79a57fd6 g.chrX:155130194G>T uc004fnr.2 + 5 550 c.376G>T c.(376-378)GTG>TTG p.V126L VAMP7_uc004fnt.2_Missense_Mutation_p.V85L|VAMP7_uc011naa.1_Missense_Mutation_p.V87L|VAMP7_uc011nab.1_Missense_Mutation_p.V25L|VAMP7_uc004fns.2_Missense_Mutation_p.V126L|VAMP7_uc011nac.1_Missense_Mutation_p.V59L NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 126 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCTAGACAAAGTGATGGAGAC 0.358