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 AMY2B 280 broad.mit.edu 37 1 104116388 104116388 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr1:104116388G>A uc001duq.2 + 6 1188 c.572G>A c.(571-573)CGT>CAT p.R191H AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 191 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GATTATGTGCGTTCCAAGATT 0.413 TCHH 7062 broad.mit.edu 37 1 152080354 152080354 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr1:152080354C>T uc001ezp.2 - 2 5339 c.5339G>A c.(5338-5340)CGC>CAC p.R1780H TCHH_uc009wne.1_Missense_Mutation_p.R1780H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1780 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCTCCTGGCGGAGCTGTTC 0.592 REN 5972 broad.mit.edu 37 1 204135375 204135377 + In_Frame_Del DEL AGC - - rs121917743 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr1:204135375_204135377delAGC uc001haq.2 - 1 89_91 c.45_47delGCT c.(43-48)CTGCTC>CTC p.15_16LL>L NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 15_16 L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGAGCCCCAGAGCAGCAGCAGCA 0.581 ARID4B 51742 broad.mit.edu 37 1 235377267 235377269 + In_Frame_Del DEL TCT - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr1:235377267_235377269delTCT uc001hwq.2 - 17 2154_2156 c.1656_1658delAGA c.(1654-1659)GAAGAG>GAG p.552_553EE>E ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_In_Frame_Del_p.233_234EE>E NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 552_553 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) atcttcatcctcttcttcttctt 0.246 OR2L3 391192 broad.mit.edu 37 1 248224733 248224733 + Nonsense_Mutation SNP C A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr1:248224733C>A uc001idx.1 + 1 750 c.750C>A c.(748-750)TAC>TAA p.Y250* OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TAACTTTCTACTATGCACCTT 0.502 PTEN 5728 broad.mit.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C T T rs121909219 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr10:89717672C>T uc001kfb.2 + 8 1728 c.697C>T c.(697-699)CGA>TGA p.R233* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. 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.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(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) AGGACCCACACGACGGGAAGA 0.423 R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM) 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) KIF20B 9585 broad.mit.edu 37 10 91498052 91498052 + Missense_Mutation SNP C A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr10:91498052C>A uc001kgs.1 + 20 3526 c.3454C>A c.(3454-3456)CTT>ATT p.L1152I KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1152 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GCTTTCAGAACTTACACAAGG 0.343 WDR11 55717 broad.mit.edu 37 10 122649467 122649467 + Silent SNP T C C TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr10:122649467T>C uc010qtf.1 + 18 2527 c.2289T>C c.(2287-2289)AAT>AAC p.N763N WDR11_uc010qte.1_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N|WDR11_uc009xzn.2_Silent_p.N54N NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 763 WD 7. integral to membrane 0 GTAAAGGAAATCAAAAATTAA 0.383 OR5D18 219438 broad.mit.edu 37 11 55587178 55587178 + Missense_Mutation SNP C G G TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr11:55587178C>G uc010rin.1 + 1 73 c.73C>G c.(73-75)CAA>GAA p.Q25E NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CCCAGAACTGCAAGTCCCACT 0.448 PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr11:77069990_77069992delCAT uc001oyh.3 - 6 1081_1083 c.548_550delATG c.(547-552)GATGCT>GCT p.D183del PAK1_uc010rso.1_In_Frame_Del_p.D85del|PAK1_uc001oyg.3_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.1_5'UTR NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.429 MAML2 84441 broad.mit.edu 37 11 95825767 95825767 + Silent SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr11:95825767C>T uc001pfw.1 - 2 2713 c.1428G>A c.(1426-1428)GGG>GGA p.G476G NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 476 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TTTTCTCCTGCCCAAATGGAC 0.512 T MECT1|CRTC3 salivary gland mucoepidermoid RB1 5925 broad.mit.edu 37 13 48919241 48919244 + Frame_Shift_Del DEL AAAG - - rs121913296 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr13:48919241_48919244delAAAG uc001vcb.2 + 4 572_575 c.406_409delAAAG c.(406-411)AAAGAAfs p.K136fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 136_137 E -> D (in RB; unilateral form). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5)|p.E137*(2) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAACTTACTAAAAGAAATTGATAC 0.284 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) REM2 161253 broad.mit.edu 37 14 23353987 23353987 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr14:23353987C>T uc001whf.1 + 2 273 c.208C>T c.(208-210)CCT>TCT p.P70S REM2_uc010tnd.1_Missense_Mutation_p.P62S NM_173527 NP_775798 Q8IYK8 REM2_HUMAN rad and gem related GTP binding protein 2 70 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) AGGCAGTATGCCTGTCCCCTA 0.607 FMN1 342184 broad.mit.edu 37 15 33261062 33261062 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr15:33261062G>A uc001zhf.3 - 4 2171 c.2171C>T c.(2170-2172)CCA>CTA p.P724L NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 947 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TCCTGGGGGTGGTGGAGCAGG 0.507 PLCB2 5330 broad.mit.edu 37 15 40590478 40590478 + Silent SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr15:40590478G>A uc001zld.2 - 11 1402 c.1101C>T c.(1099-1101)GAC>GAT p.D367D PLCB2_uc010bbo.2_Silent_p.D367D|PLCB2_uc010ucm.1_Silent_p.D367D NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 367 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TGGGCTCCTCGTCAGGGGGTT 0.602 IGF1R 3480 broad.mit.edu 37 15 99456497 99456497 + Missense_Mutation SNP G T T rs45553041 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr15:99456497G>T uc002bul.2 + 8 1864 c.1814G>T c.(1813-1815)CGC>CTC p.R605L IGF1R_uc010urq.1_Missense_Mutation_p.R605L|IGF1R_uc010bon.2_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 605 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TTGTACATTCGCACCAATGCT 0.532 NQO1 1728 broad.mit.edu 37 16 69760486 69760487 + Translation_Start_Site DEL TT - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr16:69760486_69760487delTT uc002exp.2 - 1 47_48 c.-144_-143delAA c.(-146--141)ATAAGA>ATGA NQO1_uc010cfm.2_5'Flank|NQO1_uc002exq.2_Translation_Start_Site|NQO1_uc002exr.2_Translation_Start_Site|NQO1_uc010vll.1_Translation_Start_Site NM_000903 NP_000894 P15559 NQO1_HUMAN NAD(P)H menadione oxidoreductase 1, nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity 0 Dicumarol(DB00266)|Menadione(DB00170) GCATTCTCTCTTATATATCCTG 0.644 TP53 7157 broad.mit.edu 37 17 7578518 7578518 + Missense_Mutation SNP C T T rs28934875 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr17:7578518C>T uc002gim.2 - 5 606 c.412G>A c.(412-414)GCC>ACC p.A138T TP53_uc002gig.1_Missense_Mutation_p.A138T|TP53_uc002gih.2_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.1_Missense_Mutation_p.A99T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 138 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). A -> D (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> S (in LFS; germline mutation).|A -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.A138V(17)|p.A138P(13)|p.0?(7)|p.A138fs*32(5)|p.A138T(4)|p.A138fs*11(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A138del(1)|p.A138_P142delAKTCP(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.A138A(1)|p.C135_T140delCQLAKT(1)|p.A138S(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGTCTTGGCCAGTTGGCAA 0.567 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) ABI3 51225 broad.mit.edu 37 17 47297534 47297534 + Silent SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr17:47297534C>T uc002iop.1 + 6 1146 c.648C>T c.(646-648)AGC>AGT p.S216S ABI3_uc002ioq.1_Silent_p.S210S NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN NESH protein isoform 1 216 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TGTTCAGCAGCGCCGAAGGTG 0.692 HNSCC(55;0.14) DNAH17 8632 broad.mit.edu 37 17 76459049 76459049 + Silent SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr17:76459049G>A uc010dhp.1 - 2 273 c.51C>T c.(49-51)CCC>CCT p.P17P DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAAAGGTTTTGGGTGTGGTGT 0.522 TBCD 6904 broad.mit.edu 37 17 80858560 80858560 + Silent SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr17:80858560G>A uc002kfz.2 + 18 1813 c.1683G>A c.(1681-1683)CAG>CAA p.Q561Q TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfy.1_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 561 HEAT 2. 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) AGTACACGCAGCCAATGATAG 0.318 ICAM1 3383 broad.mit.edu 37 19 10395175 10395175 + Missense_Mutation SNP C T T rs141326678 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr19:10395175C>T uc002mnq.2 + 5 1341 c.1022C>T c.(1021-1023)ACG>ATG p.T341M ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 341 Ig-like C2-type 4.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GCCAAGGTGACGCTGAATGGG 0.642 SCN1B 6324 broad.mit.edu 37 19 35523525 35523525 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr19:35523525G>A uc002nxp.2 + 2 325 c.134G>A c.(133-135)CGC>CAC p.R45H SCN1B_uc002nxo.1_Missense_Mutation_p.R45H|SCN1B_uc010xsg.1_Missense_Mutation_p.R45H NM_001037 NP_001028 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta 45 Extracellular (Potential).|Ig-like C2-type. axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCCTGCAAGCGCCGCAGCGAG 0.622 SPTBN4 57731 broad.mit.edu 37 19 41063199 41063199 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr19:41063199C>T uc002ony.2 + 26 5646 c.5560C>T c.(5560-5562)CGG>TGG p.R1854W SPTBN4_uc002onx.2_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.2_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.2_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.2_Missense_Mutation_p.R530W NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1854 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAGGAGAAGCGGAGGCGGCT 0.647 KLK6 5653 broad.mit.edu 37 19 51466671 51466671 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr19:51466671C>T uc002pui.2 - 5 592 c.332G>A c.(331-333)CGC>CAC p.R111H KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Missense_Mutation_p.R120H|KLK6_uc002puj.2_Missense_Mutation_p.R4H|KLK6_uc010ycn.1_Missense_Mutation_p.R4H|KLK6_uc002pul.2_Missense_Mutation_p.R111H|KLK6_uc002pum.2_Missense_Mutation_p.R4H NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 111 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GCGTGCCAGGCGCAACAGCAT 0.617 LILRA5 353514 broad.mit.edu 37 19 54822924 54822924 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr19:54822924C>T uc002qfe.2 - 5 592 c.472G>A c.(472-474)GTG>ATG p.V158M LILRA5_uc002qff.2_Missense_Mutation_p.V146M|LILRA5_uc010yev.1_Missense_Mutation_p.V158M|LILRA5_uc010yew.1_Missense_Mutation_p.V146M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 158 Extracellular (Potential).|Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGAGGGTCACGTTCTCTCCT 0.572 GPAT2 150763 broad.mit.edu 37 2 96691751 96691751 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr2:96691751C>T uc002svf.2 - 12 1388 c.1165G>A c.(1165-1167)GTC>ATC p.V389I GPAT2_uc002svd.2_Missense_Mutation_p.V202I|GPAT2_uc002sve.2_Missense_Mutation_p.V191I|GPAT2_uc002svg.2_Missense_Mutation_p.V262I|GPAT2_uc010yuh.1_Missense_Mutation_p.V318I|GPAT2_uc002svh.2_Missense_Mutation_p.V389I NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 389 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 CTGGCACTGACGATGTATTCC 0.612 TTN 7273 broad.mit.edu 37 2 179395245 179395245 + Missense_Mutation SNP C A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr2:179395245C>A uc010zfg.1 - 307 98617 c.98393G>T c.(98392-98394)GGA>GTA p.G32798V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G26493V|TTN_uc010zfi.1_Missense_Mutation_p.G26426V|TTN_uc010zfj.1_Missense_Mutation_p.G26301V|TTN_uc002umq.2_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33725 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) TTTAGACGTTCCACCTTCACC 0.363 TTN 7273 broad.mit.edu 37 2 179485027 179485027 + Silent SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr2:179485027G>A uc010zfg.1 - 197 38741 c.38517C>T c.(38515-38517)GAC>GAT p.D12839D TTN_uc010zfh.1_Silent_p.D6534D|TTN_uc010zfi.1_Silent_p.D6467D|TTN_uc010zfj.1_Silent_p.D6342D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13766 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D12839D(1)|p.D6342D(1) 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) AGAAGACAGCGTCATCGAACT 0.433 ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr2:233243529_233243531delTGC uc002vsq.2 + 1 182_184 c.17_19delTGC c.(16-21)ATGCTG>ATG p.L13del ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 13 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.542 SIRPB1 10326 broad.mit.edu 37 20 1552398 1552398 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr20:1552398C>T uc010gai.2 - 3 818 c.719G>A c.(718-720)CGT>CAT p.R240H SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 240 Ig-like C1-type 1.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 GGCAGTCCCACGAAGAGGGTC 0.622 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr20:29625934C>T uc010ztl.1 + 2 120 c.88C>T c.(88-90)CAT>TAT p.H30Y FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 ACTTGTTGGGCATTCAGATGC 0.338 LIMK2 3985 broad.mit.edu 37 22 31658176 31658176 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr22:31658176G>A uc003akh.2 + 6 753 c.608G>A c.(607-609)CGC>CAC p.R203H LIMK2_uc003akg.2_Missense_Mutation_p.R120H|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.R182H|LIMK2_uc003akk.2_Missense_Mutation_p.R182H|LIMK2_uc011aln.1_Missense_Mutation_p.R120H NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 203 PDZ. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 CCTGGGGACCGCATCCTGGAG 0.547 MYL3 4634 broad.mit.edu 37 3 46901034 46901034 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr3:46901034G>A uc003cql.1 - 4 505 c.412C>T c.(412-414)CGG>TGG p.R138W NM_000258 NP_000249 P08590 MYL3_HUMAN slow skeletal ventricular myosin alkali light 138 EF-hand 2. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) TCGAAGACCCGCAGCCCCTCC 0.572 PCOLCE2 26577 broad.mit.edu 37 3 142567280 142567280 + Missense_Mutation SNP C T T rs143959509 TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr3:142567280C>T uc003evd.2 - 3 423 c.227G>A c.(226-228)CGA>CAA p.R76Q NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 76 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GTCTATGAATCGGAAATTGAG 0.473 SGEF 26084 broad.mit.edu 37 3 153840688 153840688 + Missense_Mutation SNP G C C TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr3:153840688G>C uc011bog.1 + 2 1118 c.907G>C c.(907-909)GAT>CAT p.D303H uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.D303H NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 303 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAACGACGTGGATAGCCCAGG 0.597 UGT2A3 79799 broad.mit.edu 37 4 69817091 69817091 + Missense_Mutation SNP A G G TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr4:69817091A>G uc003hef.2 - 1 419 c.388T>C c.(388-390)TAC>CAC p.Y130H UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 130 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GTCTGATTGTAGATAAAGCTC 0.383 ANXA3 306 broad.mit.edu 37 4 79503370 79503370 + Missense_Mutation SNP T A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr4:79503370T>A uc003hld.2 + 5 548 c.238T>A c.(238-240)TTT>ATT p.F80I ANXA3_uc003hle.2_Missense_Mutation_p.F41I|ANXA3_uc010ijk.2_Missense_Mutation_p.F41I NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 80 Annexin 1. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 CTCTGGCCACTTTGAGCATCT 0.428 ODZ3 55714 broad.mit.edu 37 4 183714569 183714569 + Silent SNP T C C TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr4:183714569T>C uc003ivd.1 + 25 6781 c.6744T>C c.(6742-6744)TTT>TTC p.F2248F NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2248 YD 22.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) ACCTGCAGTTTTTTTATGCTG 0.438 PIK3R1 5295 broad.mit.edu 37 5 67589590 67589591 + In_Frame_Ins INS - TAT TAT TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr5:67589590_67589591insTAT uc003jva.2 + 11 1913_1914 c.1353_1354insTAT c.(1351-1356)insTAT p.452_453insY PIK3R1_uc003jvb.2_In_Frame_Ins_p.452_453insY|PIK3R1_uc003jvc.2_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.2_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.2_In_Frame_Ins_p.131_132insY|PIK3R1_uc011crb.1_In_Frame_Ins_p.122_123insY NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 452_453 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(2)|p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.E451_Y452del(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AATTACATGAATATAACACTCA 0.277 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) GPR98 84059 broad.mit.edu 37 5 89953946 89953946 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr5:89953946G>A uc003kju.2 + 21 4699 c.4603G>A c.(4603-4605)GAG>AAG p.E1535K GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1535 Calx-beta 10.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGACAATGACGAGGAAGGAGA 0.358 STK10 6793 broad.mit.edu 37 5 171488225 171488225 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr5:171488225C>T uc003mbo.1 - 14 2430 c.2130G>A c.(2128-2130)ATG>ATA p.M710I NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 710 Potential. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGAGCCTCTTCATGGCCAGCT 0.612 IMPG1 3617 broad.mit.edu 37 6 76715225 76715225 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr6:76715225G>A uc003pik.1 - 10 1044 c.914C>T c.(913-915)ACG>ATG p.T305M NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 305 SEA 1. 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) AAAGATGGCCGTAAGTTGCAT 0.448 ULBP1 80329 broad.mit.edu 37 6 150290460 150290460 + Missense_Mutation SNP T G G TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr6:150290460T>G uc003qnp.2 + 3 632 c.589T>G c.(589-591)TTT>GTT p.F197V NM_025218 NP_079494 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 precursor 197 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity pancreas(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) GCTTGAAGAATTTTTGATGTA 0.423 KIF25 3834 broad.mit.edu 37 6 168443281 168443281 + Silent SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr6:168443281G>A uc003qwk.1 + 8 1132 c.870G>A c.(868-870)GCG>GCA p.A290A KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 290 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGGAGATGGCGTGCATCAGCC 0.647 TFPI2 7980 broad.mit.edu 37 7 93516588 93516588 + Missense_Mutation SNP G A A TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr7:93516588G>A uc003umy.1 - 4 691 c.616C>T c.(616-618)CGT>TGT p.R206C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C|TFPI2_uc003unb.1_Missense_Mutation_p.R212C|TFPI2_uc010lfg.1_Missense_Mutation_p.R82C NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 206 BPTI/Kunitz inhibitor 3. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GCACATGCACGTTTGCAATCC 0.323 ZAN 7455 broad.mit.edu 37 7 100364654 100364654 + Missense_Mutation SNP C T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr7:100364654C>T uc003uwj.2 + 25 4799 c.4634C>T c.(4633-4635)TCG>TTG p.S1545L ZAN_uc003uwk.2_Missense_Mutation_p.S1545L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.S122L NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1545 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCACAGCCTCGGGTGACCCC 0.607 REPIN1 29803 broad.mit.edu 37 7 150069247 150069247 + Missense_Mutation SNP A G G TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr7:150069247A>G uc010lpq.1 + 4 1406 c.917A>G c.(916-918)AAC>AGC p.N306S REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 306 C2H2-type 8. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CACAAACCCAACCTGCTGTCT 0.672 ATP6V1C1 528 broad.mit.edu 37 8 104064965 104064965 + Missense_Mutation SNP A C C TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr8:104064965A>C uc003ykz.3 + 6 633 c.388A>C c.(388-390)ACT>CCT p.T130P ATP6V1C1_uc010mbz.2_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.2_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.T55P NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 130 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AAAGGGAGTAACTCAGATTGA 0.318 NFKBIL2 4796 broad.mit.edu 37 8 145654644 145654644 + Frame_Shift_Del DEL C - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr8:145654644delC uc011llg.1 - 26 4034 c.4019delG c.(4018-4020)TGCfs p.C1340fs VPS28_uc003zcr.1_5'Flank|VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1340 LRR 7. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCGTCTGCTGCACAGCTGCAG 0.721 NAA35 60560 broad.mit.edu 37 9 88576949 88576950 + Frame_Shift_Del DEL TC - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr9:88576949_88576950delTC uc004aoi.3 + 6 507_508 c.370_371delTC c.(370-372)TCAfs p.S124fs NAA35_uc004aoj.3_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 124 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 AGAAGGCCATTCACTGGCACAG 0.366 RXRA 6256 broad.mit.edu 37 9 137309042 137309042 + Nonsense_Mutation SNP G T T TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chr9:137309042G>T uc004cfb.2 + 5 811 c.649G>T c.(649-651)GAG>TAG p.E217* RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 217 Hinge. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GGACCGGAACGAGAATGAGGT 0.677 KDM6A 7403 broad.mit.edu 37 X 44923045 44923048 + Frame_Shift_Del DEL CTAT - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chrX:44923045_44923048delCTAT uc004dge.3 + 16 2281_2284 c.1906_1909delCTAT c.(1906-1911)CTATCTfs p.L636fs KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.L688fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.L340fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.L275fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 636_637 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GAAAAACCAACTATCTAACTCCAC 0.446 D|N|F|S renal|oesophageal SCC|MM H2BFM 286436 broad.mit.edu 37 X 103294801 103294801 + Frame_Shift_Del DEL T - - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 7f7c80ca-6ad9-4820-83ca-5248b3873eea 9e61f6fe-57d8-413b-a988-a3a283e6a3a7 g.chrX:103294801delT uc004els.1 + 1 286 c.258delT c.(256-258)GATfs p.D86fs RecName: Full=Histone H2B type F-M; AltName: Full=H2B.s; AltName: Full=H2B/s; ovary(1) 1 GTGTCATGGATTCTATGATCC 0.602