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 MIB2 142678 broad.mit.edu 37 1 1563429 1563429 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:1563429G>A uc001agg.2 + 14 2012 c.1885G>A c.(1885-1887)GCC>ACC p.A629T MIB2_uc001agh.2_Missense_Mutation_p.A615T|MIB2_uc001agi.2_Missense_Mutation_p.A625T|MIB2_uc001agj.2_Missense_Mutation_p.A470T|MIB2_uc001agk.2_Missense_Mutation_p.A564T|MIB2_uc001agl.1_Missense_Mutation_p.A585T|MIB2_uc001agm.2_Missense_Mutation_p.A506T|MIB2_uc010nyq.1_Missense_Mutation_p.A585T|MIB2_uc009vkh.2_Missense_Mutation_p.A435T|MIB2_uc001agn.2_Missense_Mutation_p.A261T|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 629 ANK 4. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTGCACTCCGCCATCTCGGC 0.652 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + Frame_Shift_Ins INS - AGCT AGCT rs141324796 by1000genomes TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:17034125_17034126insAGCT uc001azn.1 - 3 478_479 c.364_365insAGCT c.(364-366)TGGfs p.W122fs ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CAGCAGCAGCCAGCTGAGCACC 0.663 RCC1 1104 broad.mit.edu 37 1 28858379 28858379 + Frame_Shift_Del DEL C - - TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:28858379delC uc001bqg.1 + 3 223 c.138delC c.(136-138)GGCfs p.G46fs SNHG3-RCC1_uc001bqa.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqb.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqc.1_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.1_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.1_Frame_Shift_Del_p.G77fs NM_001269 NP_001260 P18754 RCC1_HUMAN regulator of chromosome condensation 1 isoform 46 RCC1 1. cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GCGACGTGGGCCAGCTGGGGC 0.607 BARHL2 343472 broad.mit.edu 37 1 91182732 91182732 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:91182732G>A uc001dns.2 - 1 63 c.21C>T c.(19-21)AGC>AGT p.S7S NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 7 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) AACTCGACCCGCTGGCCCCTT 0.562 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:144828704T>G uc009wig.1 + 23 2825 c.2749T>G c.(2749-2751)TAC>GAC p.Y917D NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 917 NBPF 7. cytoplasm 0 CTTCGCCCTTTACGTGGACAA 0.438 FLG2 388698 broad.mit.edu 37 1 152325929 152325929 + Nonsense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:152325929G>A uc001ezw.3 - 3 4406 c.4333C>T c.(4333-4335)CAA>TAA p.Q1445* uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1445 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGAGTTTGTTCTTGTGAT 0.522 SPTA1 6708 broad.mit.edu 37 1 158632643 158632643 + Missense_Mutation SNP C G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:158632643C>G uc001fst.1 - 17 2512 c.2313G>C c.(2311-2313)TTG>TTC p.L771F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 771 Spectrin 8. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCGGCATACCAAGGACTCTT 0.468 ABL2 27 broad.mit.edu 37 1 179084044 179084044 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:179084044G>A uc001gmj.3 - 9 1817 c.1530C>T c.(1528-1530)TGC>TGT p.C510C ABL2_uc010pnf.1_Silent_p.C510C|ABL2_uc010png.1_Silent_p.C489C|ABL2_uc010pnh.1_Silent_p.C489C|ABL2_uc009wxe.2_Silent_p.C489C|ABL2_uc001gmg.3_Silent_p.C495C|ABL2_uc001gmi.3_Silent_p.C495C|ABL2_uc001gmh.3_Silent_p.C474C|ABL2_uc010pne.1_Silent_p.C474C NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 510 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P476fs*7(1) lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CCTTAGGGGGGCATCCCTCAG 0.383 T ETV6 AML USH2A 7399 broad.mit.edu 37 1 216256823 216256823 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr1:216256823T>C uc001hku.1 - 26 5660 c.5273A>G c.(5272-5274)AAC>AGC p.N1758S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1758 Laminin G-like 2.|Extracellular (Potential). 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) TCCATCTTTGTTATAAACGAA 0.303 HNSCC(13;0.011) PTEN 5728 broad.mit.edu 37 10 89692902 89692902 + Missense_Mutation SNP G A A rs121909218 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr10:89692902G>A uc001kfb.2 + 6 1417 c.386G>A c.(385-387)GGA>GAA p.G129E NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 129 Phosphatase tensin-type. G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCTGGAAAGGGACGAACTGGT 0.413 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) UBQLN3 50613 broad.mit.edu 37 11 5529018 5529018 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:5529018G>A uc001may.1 - 2 1857 c.1771C>T c.(1771-1773)CTT>TTT p.L591F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 591 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGGGAAAGGAAGCCCAGC 0.527 PAMR1 25891 broad.mit.edu 37 11 35454046 35454046 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:35454046G>A uc001mwg.2 - 11 2064 c.2021C>T c.(2020-2022)CCG>CTG p.P674L PAMR1_uc001mwf.2_Missense_Mutation_p.P691L|PAMR1_uc010rew.1_Missense_Mutation_p.P563L|PAMR1_uc010rex.1_Missense_Mutation_p.P634L NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 674 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 TGCTCGTCCCGGGAAGGACAC 0.567 ALX4 60529 broad.mit.edu 37 11 44331575 44331575 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:44331575G>A uc001myb.2 - 1 142 c.38C>T c.(37-39)CCG>CTG p.P13L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 13 hair follicle development 0 GGCAGCGGCCGGCGACTCGCA 0.682 SLC22A11 55867 broad.mit.edu 37 11 64335161 64335161 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:64335161C>T uc001oai.2 + 7 1523 c.1149C>T c.(1147-1149)GCC>GCT p.A383A SLC22A11_uc001oaj.2_Silent_p.A383A|SLC22A11_uc009ypq.2_Intron NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 383 Helical; (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) TCTTCGGGGCCGTGGACTTCC 0.642 PIH1D2 120379 broad.mit.edu 37 11 111943820 111943820 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:111943820G>A uc001pmq.3 - 2 161 c.79C>T c.(79-81)CCT>TCT p.P27S PIH1D2_uc009yyl.2_Missense_Mutation_p.P27S|PIH1D2_uc001pmp.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 27 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) TAGCCCTCAGGGTCACTCTGA 0.463 ST14 6768 broad.mit.edu 37 11 130064098 130064098 + Missense_Mutation SNP C A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr11:130064098C>A uc001qfw.2 + 8 1123 c.930C>A c.(928-930)AAC>AAA p.N310K ST14_uc010sca.1_Missense_Mutation_p.N120K NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 310 Extracellular (Potential).|CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CCTCCCAGAACGTCCTGCTCA 0.587 C3AR1 719 broad.mit.edu 37 12 8212173 8212173 + Silent SNP C T T rs138822577 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr12:8212173C>T uc001qtv.1 - 2 701 c.609G>A c.(607-609)CCG>CCA p.P203P NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 203 Extracellular (Potential). P -> R (in Ref. 1; AAC50374). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) TTTCTCCAGGCGGCTGAACAA 0.408 KRT8 3856 broad.mit.edu 37 12 53292563 53292563 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr12:53292563C>T uc001sbd.2 - 6 1205 c.1102G>A c.(1102-1104)GCG>ACG p.A368T KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.A396T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 368 Necessary for interaction with PNN.|Rod.|Coil 2. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCTGCCGCGCCATGTCCTGC 0.637 RPS26 6231 broad.mit.edu 37 12 56436346 56436346 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr12:56436346C>T uc001sjf.2 + 2 406 c.141C>T c.(139-141)GCC>GCT p.A47A NM_001029 NP_001020 P62854 RS26_HUMAN ribosomal protein S26 47 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|protein binding|structural constituent of ribosome breast(1) 1 OV - Ovarian serous cystadenocarcinoma(18;0.123) TAGTGGAGGCCGCAGCAGTCA 0.557 TSPAN8 7103 broad.mit.edu 37 12 71523126 71523126 + Silent SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr12:71523126T>C uc009zrt.1 - 7 807 c.645A>G c.(643-645)GGA>GGG p.G215G TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G NM_004616 NP_004607 P19075 TSN8_HUMAN transmembrane 4 superfamily member 3 215 Helical; (Potential). protein glycosylation integral to membrane|lysosome signal transducer activity skin(2)|lung(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TAACTGCCAGTCCAAATGATA 0.274 CCDC63 160762 broad.mit.edu 37 12 111336859 111336859 + Silent SNP C T T rs115748204 by1000genomes TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr12:111336859C>T uc001trv.1 + 10 1467 c.1272C>T c.(1270-1272)GAC>GAT p.D424D CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 424 skin(6)|ovary(1)|pancreas(1) 8 TAAACTGTGACGCCACCAAGA 0.498 USP12 219333 broad.mit.edu 37 13 27664021 27664021 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr13:27664021G>A uc001uqy.2 - 6 986 c.733C>T c.(733-735)CGG>TGG p.R245W NM_182488 NP_872294 O75317 UBP12_HUMAN ubiquitin thiolesterase 12 245 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1) 1 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TAAAATTACCGTTTGTGTGCT 0.353 SOHLH2 54937 broad.mit.edu 37 13 36748890 36748890 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr13:36748890C>T uc001uvj.2 - 7 847 c.758G>A c.(757-759)CGG>CAG p.R253Q SOHLH2_uc010tei.1_Missense_Mutation_p.R330Q NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 253 Helix-loop-helix motif. cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) GATTTTCTCCCGGATATATTT 0.403 RCBTB2 1102 broad.mit.edu 37 13 49070369 49070369 + Missense_Mutation SNP A T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr13:49070369A>T uc001vch.2 - 14 1844 c.1473T>A c.(1471-1473)AAT>AAA p.N491K RCBTB2_uc010tgg.1_Missense_Mutation_p.N496K|RCBTB2_uc001vci.2_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.1_Missense_Mutation_p.N217K|RCBTB2_uc001vcj.2_Missense_Mutation_p.N443K NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 491 BTB 2. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GAGCGATGGCATTCTCCTCGC 0.502 PCDH17 27253 broad.mit.edu 37 13 58207833 58207833 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr13:58207833G>A uc001vhq.1 + 1 2045 c.1153G>A c.(1153-1155)GGA>AGA p.G385R PCDH17_uc010aec.1_Missense_Mutation_p.G385R NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 385 Extracellular (Potential).|Gly-rich.|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGGCAAGAACGGACAGCTGCA 0.557 PCDH17 27253 broad.mit.edu 37 13 58208729 58208729 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr13:58208729G>A uc001vhq.1 + 1 2941 c.2049G>A c.(2047-2049)TCG>TCA p.S683S PCDH17_uc010aec.1_Silent_p.S683S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 683 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCATCCGCTCGGTGAGCGGAT 0.632 AHNAK2 113146 broad.mit.edu 37 14 105417209 105417209 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr14:105417209C>T uc010axc.1 - 7 4699 c.4579G>A c.(4579-4581)GTG>ATG p.V1527M AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1527 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGAGGCTCACGTCGGCCTCC 0.622 AHNAK2 113146 broad.mit.edu 37 14 105418199 105418199 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr14:105418199C>T uc010axc.1 - 7 3709 c.3589G>A c.(3589-3591)GTG>ATG p.V1197M AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1197 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGAGACTCACGTCGGCCTCC 0.617 MAP1A 4130 broad.mit.edu 37 15 43818898 43818898 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr15:43818898C>T uc001zrt.2 + 4 5694 c.5227C>T c.(5227-5229)CGG>TGG p.R1743W NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1743 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGTACCCCTGCGGGAACACGC 0.597 BNC1 646 broad.mit.edu 37 15 83935703 83935703 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr15:83935703C>T uc002bjt.1 - 3 408 c.320G>A c.(319-321)CGC>CAC p.R107H BNC1_uc010uos.1_Missense_Mutation_p.R95H NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 107 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R107C(1) ovary(3) 3 GATTTTTAGGCGAACGGGGAT 0.507 PCSK6 5046 broad.mit.edu 37 15 101929721 101929721 + Missense_Mutation SNP A G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr15:101929721A>G uc002bwy.2 - 10 1572 c.1258T>C c.(1258-1260)TCA>CCA p.S420P PCSK6_uc010bpd.2_Missense_Mutation_p.S290P|PCSK6_uc010bpe.2_Missense_Mutation_p.S420P|PCSK6_uc002bxa.2_Missense_Mutation_p.S420P|PCSK6_uc002bxb.2_Missense_Mutation_p.S420P|PCSK6_uc002bxc.1_Missense_Mutation_p.S420P|PCSK6_uc002bxd.1_Missense_Mutation_p.S420P|PCSK6_uc002bxe.2_Missense_Mutation_p.S420P|PCSK6_uc002bxg.1_Missense_Mutation_p.S420P NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 420 Catalytic. Charge relay system (By similarity). glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCAGAGACTGAGGTCCCAGTG 0.507 TBL3 10607 broad.mit.edu 37 16 2025082 2025082 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr16:2025082C>T uc002cnu.1 + 7 720 c.618C>T c.(616-618)GAC>GAT p.D206D TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsb.1_Missense_Mutation_p.R21W|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN transducin beta-like 3 206 WD 4. G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity 0 TCAGCGCCGACGGCCACACCA 0.652 CCDC113 29070 broad.mit.edu 37 16 58287944 58287944 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr16:58287944C>T uc002ene.2 + 3 350 c.271C>T c.(271-273)CGT>TGT p.R91C CCDC113_uc010vid.1_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 91 protein complex 0 AGGTATGGACCGTGGGGTAGG 0.507 FLCN 201163 broad.mit.edu 37 17 17119805 17119805 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr17:17119805C>T uc002gra.3 - 11 1693 c.1189G>A c.(1189-1191)GTG>ATG p.V397M PLD6_uc010cpn.2_RNA NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 397 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 ACGCAGCCCACGGGAAGCATG 0.637 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer KRT37 8688 broad.mit.edu 37 17 39578590 39578590 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr17:39578590G>A uc002hwp.1 - 4 876 c.829C>T c.(829-831)CGG>TGG p.R277W uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 277 Coil 2.|Rod. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) TACTGAGCCCGCATCTCCCCC 0.582 G6PC 2538 broad.mit.edu 37 17 41063121 41063121 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr17:41063121T>C uc002icb.1 + 5 831 c.752T>C c.(751-753)GTC>GCC p.V251A G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 251 Lumenal (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) CCAGAATGGGTCCACATTGAC 0.582 Glycogen_Storage_Disease_type_Ia C17orf57 124989 broad.mit.edu 37 17 45471419 45471419 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr17:45471419C>T uc002iln.2 + 16 2166 c.1755C>T c.(1753-1755)TTC>TTT p.F585F C17orf57_uc002ilm.2_Silent_p.F489F NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 585 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 TTAAAGAATTCATTGATACTA 0.259 GPR142 350383 broad.mit.edu 37 17 72368116 72368116 + Missense_Mutation SNP C T T rs149042051 byFrequency TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr17:72368116C>T uc010wqy.1 + 4 766 c.766C>T c.(766-768)CGC>TGC p.R256C GPR142_uc010wqx.1_Missense_Mutation_p.R168C NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 256 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CACGGTTGACCGCTACACTGC 0.687 CDH7 1005 broad.mit.edu 37 18 63547824 63547824 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr18:63547824G>A uc002ljz.2 + 12 2377 c.2052G>A c.(2050-2052)AGG>AGA p.R684R CDH7_uc002lkb.2_Silent_p.R684R NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 684 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AGACCCGGAGGGATGTGACTC 0.473 MED16 10025 broad.mit.edu 37 19 868170 868170 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:868170C>T uc002lqd.1 - 16 2716 c.2565G>A c.(2563-2565)CCG>CCA p.P855P MED16_uc010drw.1_3'UTR|MED16_uc002lqe.2_3'UTR|MED16_uc002lqf.2_3'UTR NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 855 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTGGACTGCGGGCCCAGCT 0.677 CCDC124 115098 broad.mit.edu 37 19 18054397 18054397 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:18054397C>T uc010xpz.1 + 5 590 c.545C>T c.(544-546)CCG>CTG p.P182L CCDC124_uc002nhs.2_Missense_Mutation_p.P182L NM_001136203 NP_001129675 Q96CT7 CC124_HUMAN coiled-coil domain containing 124 182 DNA binding 0 GCCCAGCTGCCGCGGCTCAAA 0.637 UPF1 5976 broad.mit.edu 37 19 18961017 18961017 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:18961017G>A uc002nkg.2 + 4 870 c.595G>A c.(595-597)GCC>ACC p.A199T UPF1_uc002nkf.2_Missense_Mutation_p.A199T NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 199 Sufficient for interaction with RENT2.|C4-type. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CTTCATCCCGGCCAAAGCTGA 0.612 PRODH2 58510 broad.mit.edu 37 19 36303168 36303168 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:36303168C>T uc002obx.1 - 4 624 c.606G>A c.(604-606)GCG>GCA p.A202A NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 202 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCATACCACGCCTCACTGC 0.672 RYR1 6261 broad.mit.edu 37 19 38991601 38991601 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:38991601G>A uc002oit.2 + 47 7715 c.7585G>A c.(7585-7587)GAC>AAC p.D2529N RYR1_uc002oiu.2_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2529 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTTCCTGCCCGACATGAGGGC 0.642 FCGBP 8857 broad.mit.edu 37 19 40384053 40384053 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:40384053T>C uc002omp.3 - 21 9565 c.9557A>G c.(9556-9558)GAG>GGG p.E3186G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3186 TIL 7. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGGCAGCCCTCCACACAGGG 0.652 CNTD2 79935 broad.mit.edu 37 19 40730663 40730663 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:40730663C>T uc010xvi.1 - 2 372 c.323G>A c.(322-324)CGC>CAC p.R108H CNTD2_uc002ond.2_Intron NM_024877 NP_079153 Q9H8S5 CNTD2_HUMAN cyclin N-terminal domain containing 2 isoform 2 108 regulation of cyclin-dependent protein kinase activity protein kinase binding 0 CACCAGGGCGCGCATCTCCGG 0.682 LYPD4 147719 broad.mit.edu 37 19 42342041 42342041 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:42342041G>A uc002orp.1 - 4 1490 c.506C>T c.(505-507)ACG>ATG p.T169M LYPD4_uc002orq.1_Missense_Mutation_p.T134M NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor 169 UPAR/Ly6. anchored to membrane|plasma membrane ovary(1) 1 ACTGTAACACGTAGAAGCAGC 0.403 PHLDB3 653583 broad.mit.edu 37 19 44008217 44008217 + Missense_Mutation SNP T G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:44008217T>G uc002own.3 - 2 313 c.54A>C c.(52-54)GAA>GAC p.E18D PHLDB3_uc002owo.2_Missense_Mutation_p.E18D NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 18 0 Prostate(69;0.0153) CCACGTCGCATTCCGGGACCA 0.736 KLK15 55554 broad.mit.edu 37 19 51330300 51330300 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:51330300G>A uc002ptl.2 - 3 346 c.315C>T c.(313-315)AAC>AAT p.N105N KLK15_uc002ptm.2_Silent_p.N105N|KLK15_uc002ptn.2_Silent_p.N105N|KLK15_uc002pto.2_Silent_p.N104N|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.N104N|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 105 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACATGATGTCGTTGCGGTGGC 0.687 SIGLEC6 946 broad.mit.edu 37 19 52034114 52034114 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:52034114G>A uc002pwy.2 - 3 689 c.527C>T c.(526-528)ACG>ATG p.T176M SIGLEC6_uc002pwz.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T165M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T154M|SIGLEC6_uc010epb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010epa.1_Missense_Mutation_p.T165M NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 176 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GATGGGGGGCGTCCCCTGCTC 0.667 LILRB1 10859 broad.mit.edu 37 19 55143056 55143056 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr19:55143056G>A uc002qgj.2 + 5 516 c.176G>A c.(175-177)CGT>CAT p.R59H LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.R59H|LILRB1_uc002qgk.2_Missense_Mutation_p.R59H|LILRB1_uc002qgm.2_Missense_Mutation_p.R59H|LILRB1_uc010erq.2_Missense_Mutation_p.R59H|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 59 Ig-like C2-type 1.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CAGGAGTACCGTCTATATAGA 0.572 HNSCC(37;0.09) CEP68 23177 broad.mit.edu 37 2 65296813 65296813 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:65296813C>T uc002sdl.3 + 2 449 c.235C>T c.(235-237)CAC>TAC p.H79Y CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.3_Missense_Mutation_p.H79Y|CEP68_uc010yqc.1_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 79 centrosome organization centrosome skin(1) 1 CTCTAGAGCCCACCAGCCACA 0.637 SUCLG1 8802 broad.mit.edu 37 2 84652596 84652596 + Missense_Mutation SNP C A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:84652596C>A uc002son.2 - 8 1150 c.957G>T c.(955-957)CAG>CAT p.Q319H NM_003849 NP_003840 P53597 SUCA_HUMAN succinate-CoA ligase, GDP-forming alpha subunit 319 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity 0 Succinic acid(DB00139) CTCCTGCACTCTGAAGGGCAG 0.532 CD8B 926 broad.mit.edu 37 2 87073862 87073862 + Silent SNP C G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:87073862C>G uc002srz.2 - 4 578 c.528G>C c.(526-528)CTG>CTC p.L176L RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.L176L|CD8B_uc002srx.2_Silent_p.L176L|CD8B_uc002sry.2_Intron|CD8B_uc010fgt.2_Intron|CD8B_uc002ssa.2_Silent_p.L176L|CD8B_uc010yto.1_Silent_p.L176L NM_004931 NP_004922 P10966 CD8B_HUMAN CD8b antigen isoform 5 precursor 176 Helical; (Potential). immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding upper_aerodigestive_tract(1)|skin(1) 2 CGCCAGCCACCAGCAGGCCAA 0.532 TBC1D8 11138 broad.mit.edu 37 2 101670635 101670635 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:101670635C>T uc010fiv.2 - 4 652 c.521G>A c.(520-522)CGC>CAC p.R174H TBC1D8_uc010yvw.1_Missense_Mutation_p.R189H|TBC1D8_uc002tau.3_5'UTR NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 174 GRAM 1. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CCAGCCCTGGCGGGGCACCCT 0.587 IL1R2 7850 broad.mit.edu 37 2 102644815 102644815 + Silent SNP A G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:102644815A>G uc002tbm.2 + 9 1387 c.1158A>G c.(1156-1158)CTA>CTG p.L386L IL1R2_uc002tbn.2_Silent_p.L386L NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 386 Cytoplasmic (Potential). immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) TGACTGTGCTATGGCCTCATC 0.448 IL18RAP 8807 broad.mit.edu 37 2 103040874 103040874 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:103040874G>A uc002tbx.2 + 5 1063 c.579G>A c.(577-579)AAG>AAA p.K193K IL18RAP_uc010fiz.2_Silent_p.K51K NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 193 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CCTGGTACAAGGTAAGAGTGA 0.313 IRS1 3667 broad.mit.edu 37 2 227660008 227660008 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr2:227660008C>T uc002voh.3 - 1 3499 c.3447G>A c.(3445-3447)GTG>GTA p.V1149V NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 1149 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCCTCAGCCACACATTCTCAA 0.617 C20orf94 128710 broad.mit.edu 37 20 10603963 10603963 + Missense_Mutation SNP A G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:10603963A>G uc010zre.1 + 8 1343 c.1163A>G c.(1162-1164)GAA>GGA p.E388G NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 388 protein binding 0 ACAAACACTGAAAGATTATCT 0.428 PYGB 5834 broad.mit.edu 37 20 25255279 25255279 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:25255279C>T uc002wup.2 + 5 689 c.580C>T c.(580-582)CGG>TGG p.R194W NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 194 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GGAGAAAGCGCGGCCTGAGTA 0.622 TGM2 7052 broad.mit.edu 37 20 36760804 36760804 + Missense_Mutation SNP T A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:36760804T>A uc002xhr.2 - 11 1814 c.1714A>T c.(1714-1716)ATC>TTC p.I572F TGM2_uc002xhq.2_Missense_Mutation_p.I173F|TGM2_uc010zvx.1_Missense_Mutation_p.I491F|TGM2_uc010zvy.1_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 572 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TAGCTGTTGATAACTGGCTCC 0.567 ARFGEF2 10564 broad.mit.edu 37 20 47585807 47585807 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:47585807G>A uc002xtx.3 + 9 1335 c.1183G>A c.(1183-1185)GAC>AAC p.D395N NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 395 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGGCCCTCCAGACCCAAAGTA 0.527 ARFGEF2 10564 broad.mit.edu 37 20 47591341 47591341 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:47591341G>A uc002xtx.3 + 13 1856 c.1704G>A c.(1702-1704)GTG>GTA p.V568V NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 568 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGTGCCTCGTGTCCATTCTCA 0.517 ZFP64 55734 broad.mit.edu 37 20 50769893 50769893 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:50769893C>T uc002xwl.2 - 6 1187 c.838G>A c.(838-840)GTG>ATG p.V280M ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V278M|ZFP64_uc002xwn.2_Missense_Mutation_p.V226M NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 280 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCCGAGTGCACCCGCATGTGC 0.552 SLC17A9 63910 broad.mit.edu 37 20 61596500 61596500 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr20:61596500G>A uc002yea.3 + 9 1111 c.927G>A c.(925-927)ACG>ACA p.T309T SLC17A9_uc002ydz.3_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 309 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 GAGCCATCACGGTGCGGAAGC 0.587 ZNF280A 129025 broad.mit.edu 37 22 22868791 22868791 + Missense_Mutation SNP C A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr22:22868791C>A uc002zwe.2 - 2 1417 c.1164G>T c.(1162-1164)AAG>AAT p.K388N LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTTCGCCAGGCTTATGATGGT 0.458 SAPS2 9701 broad.mit.edu 37 22 50860803 50860803 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr22:50860803G>A uc003blb.1 + 10 1388 c.966G>A c.(964-966)CCG>CCA p.P322P SAPS2_uc003bky.1_Silent_p.P322P|SAPS2_uc003bkz.1_Silent_p.P322P|SAPS2_uc003blc.2_Silent_p.P322P|SAPS2_uc003bla.1_Silent_p.P323P|uc011arw.1_5'Flank NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 322 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) TGCTCAACCCGCCCAAGGTAA 0.582 CAMK1 8536 broad.mit.edu 37 3 9802446 9802446 + Silent SNP G A A rs138951531 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:9802446G>A uc003bst.2 - 8 817 c.639C>T c.(637-639)TGC>TGT p.C213C OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 213 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GAGGGTAACCGCAGAGCCTGG 0.557 ENTPD3 956 broad.mit.edu 37 3 40457378 40457378 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:40457378G>A uc003ckd.3 + 7 737 c.645G>A c.(643-645)ACG>ACA p.T215T ENTPD3_uc010hhy.2_Silent_p.T215T|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 215 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TGGAAACCACGGGTGCCCTGG 0.537 TRAK1 22906 broad.mit.edu 37 3 42261046 42261046 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:42261046G>A uc003cky.2 + 15 2240 c.2024G>A c.(2023-2025)CGC>CAC p.R675H TRAK1_uc011azi.1_Missense_Mutation_p.R654H NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 675 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 ACCACCTGTCGCATCCTGCAT 0.552 DOCK3 1795 broad.mit.edu 37 3 51418534 51418534 + Silent SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:51418534C>T uc011bds.1 + 53 5660 c.5637C>T c.(5635-5637)GAC>GAT p.D1879D NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1879 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGGTCTGGACGGCAGCAACT 0.617 POLQ 10721 broad.mit.edu 37 3 121208947 121208947 + Missense_Mutation SNP A C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:121208947A>C uc003eee.3 - 16 2960 c.2831T>G c.(2830-2832)TTT>TGT p.F944C POLQ_uc003eed.2_Missense_Mutation_p.F116C NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 944 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AGAATCACTAAATATTGTGTT 0.289 DNA_polymerases_(catalytic_subunits) COL29A1 256076 broad.mit.edu 37 3 130174391 130174391 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:130174391C>T uc010htj.1 + 37 7165 c.6671C>T c.(6670-6672)ACG>ATG p.T2224M COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.T263M NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2224 Nonhelical region. axon guidance|cell adhesion collagen 0 TTTGTAAAGACGGAAGACAAT 0.353 ARMC8 25852 broad.mit.edu 37 3 137964018 137964018 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:137964018G>A uc003esa.1 + 13 1452 c.1085G>A c.(1084-1086)CGG>CAG p.R362Q ARMC8_uc003erw.2_Missense_Mutation_p.R362Q|ARMC8_uc003erx.2_Missense_Mutation_p.R362Q|ARMC8_uc003ery.2_Missense_Mutation_p.R334Q|ARMC8_uc003erz.2_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 376 ARM 8. binding 0 GAAGACATCCGGAAGAAGGTG 0.522 SERPINI1 5274 broad.mit.edu 37 3 167508226 167508226 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:167508226T>C uc003ffa.3 + 3 515 c.317T>C c.(316-318)ATG>ACG p.M106T SERPINI1_uc003ffb.3_Missense_Mutation_p.M106T NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 106 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 CAATATGTGATGAAAATTGCC 0.318 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr3:195515449A>T uc011bto.1 - 2 3462 c.3002T>A c.(3001-3003)GTA>GAA p.V1001E MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587 ZNF330 27309 broad.mit.edu 37 4 142155058 142155058 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr4:142155058C>T uc003iiq.3 + 10 1098 c.878C>T c.(877-879)ACT>ATT p.T293I ZNF330_uc011chl.1_Missense_Mutation_p.T233I NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 293 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) GATTCAGATACTGAGTCATCA 0.308 SPOCK3 50859 broad.mit.edu 37 4 167656162 167656162 + Silent SNP A G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr4:167656162A>G uc003iri.1 - 12 1362 c.1221T>C c.(1219-1221)GAT>GAC p.D407D SPOCK3_uc011cjp.1_Silent_p.D364D|SPOCK3_uc011cjq.1_Silent_p.D416D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cju.1_Silent_p.D300D|SPOCK3_uc011cjv.1_Silent_p.D309D NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 407 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) cattcataatatcgtcttcat 0.070 DNAH5 1767 broad.mit.edu 37 5 13766102 13766102 + Missense_Mutation SNP A T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr5:13766102A>T uc003jfd.2 - 59 10126 c.10084T>A c.(10084-10086)TTT>ATT p.F3362I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3362 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTCTGTAAAAAGTTCCCTGCA 0.418 Kartagener_syndrome PCDHA13 56136 broad.mit.edu 37 5 140263516 140263516 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr5:140263516G>A uc003lif.2 + 1 1663 c.1663G>A c.(1663-1665)GTG>ATG p.V555M 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_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V555M|PCDHA13_uc003lid.2_Missense_Mutation_p.V555M NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 555 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGTGTTCGTGCTGGACGA 0.697 PCDHGA8 9708 broad.mit.edu 37 5 140774370 140774370 + Missense_Mutation SNP G A A rs143444747 by1000genomes TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr5:140774370G>A uc003lkd.1 + 1 2888 c.1990G>A c.(1990-1992)GTG>ATG p.V664M 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_uc003lkb.3_Missense_Mutation_p.V664M NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 664 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGTAGCCGTGGCTGACAG 0.627 OR10C1 442194 broad.mit.edu 37 6 29408448 29408448 + Missense_Mutation SNP G T T rs74711365 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:29408448G>T uc011dlp.1 + 1 656 c.656G>T c.(655-657)CGT>CTT p.R219L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCTACGGGCGTATCCTCGTT 0.582 KIF6 221458 broad.mit.edu 37 6 39513399 39513399 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:39513399G>A uc003oot.2 - 11 1342 c.1247C>T c.(1246-1248)GCG>GTG p.A416V KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 416 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 ACGCATATCCGCGCCAACCTC 0.363 TMEM63B 55362 broad.mit.edu 37 6 44122464 44122464 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:44122464G>A uc003owr.2 + 24 2407 c.2343G>A c.(2341-2343)GTG>GTA p.V781V TMEM63B_uc003ows.2_Silent_p.V684V|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 781 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ACTCAGAGGTGGACGGGGATG 0.607 TDRD6 221400 broad.mit.edu 37 6 46656737 46656737 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:46656737C>T uc003oyj.2 + 1 872 c.872C>T c.(871-873)ACG>ATG p.T291M TDRD6_uc010jze.2_Missense_Mutation_p.T285M NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 291 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CGGGGTTCCACGGGGACAGGG 0.637 GSTA1 2938 broad.mit.edu 37 6 52659006 52659006 + Missense_Mutation SNP C T T rs1051733 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:52659006C>T uc003paz.2 - 5 443 c.331G>A c.(331-333)GTA>ATA p.V111I NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 111 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GGTGGACATACGGGCAGAAGG 0.393 DPPA5 340168 broad.mit.edu 37 6 74063914 74063914 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:74063914G>A uc003pgs.1 - 1 40 c.35C>T c.(34-36)CCG>CTG p.P12L NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 12 multicellular organismal development cytoplasm RNA binding 0 TTTCACCCACGGCGGGATATG 0.582 KIAA1009 22832 broad.mit.edu 37 6 84911454 84911454 + Splice_Site SNP C G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:84911454C>G uc010kbp.2 - 8 815 c.718_splice c.e8+1 p.V240_splice KIAA1009_uc003pkj.3_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) ATAATATTTACCATTAGCAAG 0.264 RAET1G 353091 broad.mit.edu 37 6 150240886 150240886 + Missense_Mutation SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr6:150240886G>A uc010kii.1 - 2 220 c.152C>T c.(151-153)GCG>GTG p.A51V RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 51 MHC class I alpha-1 like.|Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) GCCTTGAACCGCACACCACCG 0.532 HECW1 23072 broad.mit.edu 37 7 43484403 43484403 + Silent SNP G A A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr7:43484403G>A uc003tid.1 + 11 2237 c.1632G>A c.(1630-1632)ACG>ACA p.T544T HECW1_uc011kbi.1_Silent_p.T544T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 544 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGCTGGAGACGGTGATCGCGT 0.672 SEMA3C 10512 broad.mit.edu 37 7 80433421 80433421 + Splice_Site SNP C G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr7:80433421C>G uc003uhj.2 - 8 1363 c.801_splice c.e8+1 p.P267_splice SEMA3C_uc011kgw.1_Splice_Site_p.P285_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor immune response|response to drug membrane receptor activity ovary(1) 1 TTAATACTTACAGGACATATT 0.323 PCLO 27445 broad.mit.edu 37 7 82585982 82585982 + Silent SNP A G G TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr7:82585982A>G uc003uhx.2 - 5 4576 c.4287T>C c.(4285-4287)GAT>GAC p.D1429D PCLO_uc003uhv.2_Silent_p.D1429D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1360 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTGACTTTTCATCAGCAAGTG 0.398 ADAM28 10863 broad.mit.edu 37 8 24178776 24178776 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr8:24178776T>C uc003xdy.2 + 8 777 c.694T>C c.(694-696)TTT>CTT p.F232L ADAM28_uc003xdx.2_Missense_Mutation_p.F232L|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 232 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAAGAGGGTATTTGAGATGGC 0.323 ST18 9705 broad.mit.edu 37 8 53044717 53044717 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr8:53044717C>T uc003xqz.2 - 17 2623 c.2467G>A c.(2467-2469)GGC>AGC p.G823S ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 823 C2HC-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGACCTTGGCCATCACACCCT 0.498 ZNF623 9831 broad.mit.edu 37 8 144732707 144732707 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr8:144732707T>C uc003yzd.2 + 1 754 c.665T>C c.(664-666)CTG>CCG p.L222P ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 222 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGTTCAGACCTGATTAGGCAC 0.478 PLEC 5339 broad.mit.edu 37 8 144994985 144994985 + Nonsense_Mutation SNP G A A rs137853161 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr8:144994985G>A uc003zaf.1 - 32 9585 c.9415C>T c.(9415-9417)CGA>TGA p.R3139* PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3139 Plectin 6.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGCTCACCTCGCTGCAGCTGC 0.687 HEMGN 55363 broad.mit.edu 37 9 100692686 100692686 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr9:100692686C>T uc004axy.2 - 3 1099 c.991G>A c.(991-993)GAA>AAA p.E331K HEMGN_uc004axz.2_Missense_Mutation_p.E331K NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 331 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) ACAATAATTTCGTTACATGTT 0.358 OR13C3 138803 broad.mit.edu 37 9 107298286 107298286 + Missense_Mutation SNP G A A rs145157195 TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr9:107298286G>A uc004bcb.1 - 1 809 c.809C>T c.(808-810)ACG>ATG p.T270M NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 270 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 AGCTGAGCACGTGGAAAATGC 0.428 OR13C8 138802 broad.mit.edu 37 9 107331551 107331551 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chr9:107331551T>C uc011lvo.1 + 1 103 c.103T>C c.(103-105)TAC>CAC p.Y35H NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTGTGGATGTACCTGATGAT 0.443 FAM48B1 100130302 broad.mit.edu 37 X 24381779 24381779 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chrX:24381779C>T uc011mjx.1 + 1 902 c.902C>T c.(901-903)GCC>GTC p.A301V NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 TGTGATTTGGCCGTGCCTTCA 0.512 DMD 1756 broad.mit.edu 37 X 32380981 32380981 + Missense_Mutation SNP C T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chrX:32380981C>T uc004dda.1 - 37 5493 c.5249G>A c.(5248-5250)AGG>AAG p.R1750K DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1750 Spectrin 12.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACTAATTTCCTGCAGTGGTC 0.468 PCDH19 57526 broad.mit.edu 37 X 99661954 99661954 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chrX:99661954T>C uc010nmz.2 - 1 3318 c.1642A>G c.(1642-1644)ACG>GCG p.T548A PCDH19_uc004efw.3_Missense_Mutation_p.T548A|PCDH19_uc004efx.3_Missense_Mutation_p.T548A NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 548 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 ACCCGCACCGTAGCGTTGCTT 0.587 STAG2 10735 broad.mit.edu 37 X 123202507 123202507 + Splice_Site SNP G T T TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chrX:123202507G>T uc004etz.3 + 23 2697 c.2358_splice c.e23+1 p.Q786_splice STAG2_uc004eua.2_Splice_Site_p.Q786_splice|STAG2_uc004eub.2_Splice_Site_p.Q786_splice|STAG2_uc004euc.2_Splice_Site_p.Q786_splice|STAG2_uc004eud.2_Splice_Site_p.Q786_splice|STAG2_uc004eue.2_Splice_Site_p.Q786_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TAAGGAACAGGTTAGTAATTA 0.313 GABRA3 2556 broad.mit.edu 37 X 151533006 151533006 + Missense_Mutation SNP T C C TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx f48abf4d-f1fb-48bf-97a1-0c38435b6af7 fd30b963-9361-4b8d-a80a-37958b0a40d5 g.chrX:151533006T>C uc010ntk.1 - 2 277 c.37A>G c.(37-39)AGC>GGC p.S13G NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 13 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATCCCAAGGCTGGTCATGTAA 0.423