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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter PRAMEF1 65121 broad.mit.edu 37 1 12853509 12853509 + Missense_Mutation SNP A C C rs148996974 by1000genomes TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:12853509A>C uc001auj.1 + 2 236 c.133A>C c.(133-135)AGC>CGC p.S45R NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 45 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGCCTTCAGCAGGAGACA 0.587 4 125 --- --- --- --- PASS DDI2 84301 broad.mit.edu 37 1 15956822 15956822 + Missense_Mutation SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:15956822T>G uc001awx.1 + 3 367 c.271T>G c.(271-273)TTA>GTA p.L91V DDI2_uc001aww.2_Missense_Mutation_p.L91V|DDI2_uc009voj.1_5'UTR NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 91 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CCCAACAGACTTACCCCGAAT 0.463 19 82 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39797858 39797858 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:39797858A>G uc010oiu.1 + 1 1049 c.918A>G c.(916-918)CTA>CTG p.L306L MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1871 Plectin 5. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.L306V(1) ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGATGCCCTAGAACAAGGTA 0.458 42 30 --- --- --- --- PASS MFSD2A 84879 broad.mit.edu 37 1 40420981 40420981 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:40420981G>T uc001cev.2 + 1 198 c.17G>T c.(16-18)GGC>GTC p.G6V MFSD2A_uc010ojb.1_Missense_Mutation_p.G6V|MFSD2A_uc001ceu.2_Missense_Mutation_p.G6V|MFSD2A_uc010ojc.1_5'UTR|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cew.1_Missense_Mutation_p.G6V NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 6 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 AAAGGAGAAGGCGCCGAGAGC 0.716 6 4 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43774787 43774787 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:43774787C>T uc001ciu.2 + 8 1252 c.1173C>T c.(1171-1173)GAC>GAT p.D391D TIE1_uc010okd.1_Silent_p.D391D|TIE1_uc010oke.1_Silent_p.D346D|TIE1_uc009vwq.2_Silent_p.D347D|TIE1_uc010okf.1_Silent_p.D36D|TIE1_uc010okg.1_Silent_p.D36D|TIE1_uc010okc.1_Intron NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 391 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCAAGCCAGACGGCACTGTGC 0.617 16 9 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 93091411 93091411 + Missense_Mutation SNP T G G rs137964507 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:93091411T>G uc001dox.2 - 13 1570 c.1560A>C c.(1558-1560)GAA>GAC p.E520D EVI5_uc010otf.1_Missense_Mutation_p.E531D|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 520 Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CCATAATGGCTTCTGCTTCTC 0.348 23 77 --- --- --- --- PASS NOS1AP 9722 broad.mit.edu 37 1 162335234 162335234 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:162335234C>G uc001gbv.2 + 9 1367 c.980C>G c.(979-981)GCG>GGG p.A327G NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.A322G|NOS1AP_uc009wut.1_Missense_Mutation_p.A32G NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 327 Potential. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GAGGCTGCGGCGCGGCTGGAG 0.587 17 60 --- --- --- --- PASS GLUL 2752 broad.mit.edu 37 1 182353685 182353685 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:182353685G>C uc001gpa.1 - 7 1189 c.977C>G c.(976-978)CCC>CGC p.P326R GLUL_uc010pnt.1_Missense_Mutation_p.P113R|GLUL_uc001gpb.1_Missense_Mutation_p.P326R|GLUL_uc001gpc.1_Missense_Mutation_p.P326R|GLUL_uc001gpd.1_Missense_Mutation_p.P326R NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 326 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) AACAGTCCGGGGAATGCGTAT 0.552 8 34 --- --- --- --- PASS C1orf14 81626 broad.mit.edu 37 1 182909662 182909662 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:182909662T>C uc001gpu.2 - 3 857 c.572A>G c.(571-573)TAC>TGC p.Y191C C1orf14_uc001gpv.2_Missense_Mutation_p.Y72C|C1orf14_uc010pnz.1_Missense_Mutation_p.Y49C|C1orf14_uc001gpw.2_Translation_Start_Site NM_030933 NP_112195 Q9BZQ2 SHP1L_HUMAN chromosome 1 open reading frame 14 263 0 Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267) TGAGTCTTGGTATGGTTCACA 0.333 26 24 --- --- --- --- PASS C1orf25 81627 broad.mit.edu 37 1 185114649 185114649 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:185114649T>C uc001grf.3 - 5 849 c.577A>G c.(577-579)ATC>GTC p.I193V C1orf25_uc010pon.1_Missense_Mutation_p.I37V NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 193 C2H2-type. intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 CTTCTGGTGATTGTTGCTGAA 0.338 48 111 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197030140 197030140 + Missense_Mutation SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:197030140T>G uc001gtt.1 - 4 561 c.517A>C c.(517-519)AAG>CAG p.K173Q NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 173 Sushi 3. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACTTTGTCCTTCACTTTGAAT 0.338 14 64 --- --- --- --- PASS CAMSAP1L1 23271 broad.mit.edu 37 1 200784772 200784772 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:200784772G>A uc001gvl.2 + 4 915 c.645G>A c.(643-645)AAG>AAA p.K215K CAMSAP1L1_uc001gvk.2_Silent_p.K215K|CAMSAP1L1_uc001gvm.2_Silent_p.K215K NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 215 CH. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 GAGGTCAAAAGGTATTTATTT 0.264 6 9 --- --- --- --- PASS CD46 4179 broad.mit.edu 37 1 207930442 207930442 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:207930442G>C uc001hgc.2 + 2 337 c.181G>C c.(181-183)GAT>CAT p.D61H CD46_uc001hgd.2_Missense_Mutation_p.D61H|CD46_uc001hge.2_Missense_Mutation_p.D61H|CD46_uc001hgf.2_Missense_Mutation_p.D61H|CD46_uc001hgg.2_Missense_Mutation_p.D61H|CD46_uc001hgh.2_Missense_Mutation_p.D61H|CD46_uc001hgi.2_Missense_Mutation_p.D61H|CD46_uc001hgj.2_Missense_Mutation_p.D61H|CD46_uc001hgk.2_Missense_Mutation_p.D61H|CD46_uc001hgl.2_Missense_Mutation_p.D61H|CD46_uc001hgm.2_Missense_Mutation_p.D61H|CD46_uc001hgn.2_Missense_Mutation_p.D61H|CD46_uc001hgo.2_Missense_Mutation_p.D61H|CD46_uc001hgp.2_Missense_Mutation_p.D61H NM_002389 NP_002380 P15529 MCP_HUMAN CD46 antigen, complement regulatory protein 61 Extracellular (Potential).|Sushi 1. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity large_intestine(2)|lung(1)|central_nervous_system(1) 4 TGAACGAGTAGATTATAAGTG 0.418 73 45 --- --- --- --- PASS KCTD3 51133 broad.mit.edu 37 1 215759994 215759994 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:215759994G>T uc001hks.2 + 9 1077 c.783G>T c.(781-783)TGG>TGT p.W261C KCTD3_uc001hkt.2_Missense_Mutation_p.W261C|KCTD3_uc010pub.1_Missense_Mutation_p.W159C|KCTD3_uc009xdn.2_Missense_Mutation_p.W13C NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 261 WD 1. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TCATCTTGTGGAGTGTTCAGG 0.388 73 59 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235896901 235896901 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:235896901C>A uc001hxj.2 - 34 8878 c.8703G>T c.(8701-8703)GAG>GAT p.E2901D LYST_uc001hxi.2_Missense_Mutation_p.E125D NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2901 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCTTTTTTCTCTCATTTCCTT 0.398 Chediak-Higashi_syndrome 11 59 --- --- --- --- PASS C1orf150 148823 broad.mit.edu 37 1 247719715 247719715 + Silent SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:247719715G>T uc001idf.2 + 2 81 c.36G>T c.(34-36)CTG>CTT p.L12L C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 12 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) ATAGTTGCCTGGGAGAGAATC 0.343 4 14 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921596 247921596 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr1:247921596G>T uc010pza.1 - 1 113 c.113C>A c.(112-114)ACC>AAC p.T38N NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) CCCCAAGGTGGTGGCTAAATA 0.478 6 18 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63176080 63176080 + Missense_Mutation SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:63176080A>T uc002sby.2 + 14 2686 c.2204A>T c.(2203-2205)GAA>GTA p.E735V EHBP1_uc010fcp.2_Missense_Mutation_p.E700V|EHBP1_uc002sbz.2_Missense_Mutation_p.E700V|EHBP1_uc002scb.2_Missense_Mutation_p.E700V NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 735 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGGAGAAAGAAAAATTAGAG 0.353 Hereditary_Prostate_Cancer 16 32 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80816562 80816562 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:80816562T>C uc010ysh.1 + 14 2146 c.2141T>C c.(2140-2142)CTG>CCG p.L714P CTNNA2_uc010yse.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysf.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysg.1_Missense_Mutation_p.L714P|CTNNA2_uc010ysi.1_Missense_Mutation_p.L346P|CTNNA2_uc010ysj.1_Missense_Mutation_p.L43P NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 714 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATCATTGTACTGGCCAAGCAG 0.458 17 28 --- --- --- --- PASS CD8B 926 broad.mit.edu 37 2 87085418 87085418 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:87085418C>T uc002srz.2 - 2 215 c.165G>A c.(163-165)CTG>CTA p.L55L RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.L55L|CD8B_uc002srx.2_Silent_p.L55L|CD8B_uc002sry.2_Silent_p.L55L|CD8B_uc010fgt.2_Silent_p.L55L|CD8B_uc002ssa.2_Silent_p.L55L|CD8B_uc010yto.1_Silent_p.L55L NM_004931 NP_004922 P10966 CD8B_HUMAN CD8b antigen isoform 5 precursor 55 Ig-like V-type.|Extracellular (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 GGCGCTGTCTCAGCCAGTAGA 0.547 16 36 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130832484 130832484 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:130832484T>A uc010fmh.2 - 17 2961 c.2561A>T c.(2560-2562)GAC>GTC p.D854V NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 854 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 GTCACCAGAGTCCATCACGAT 0.607 46 50 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520751 131520751 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:131520751C>A uc002trw.2 + 2 1296 c.1106C>A c.(1105-1107)ACA>AAA p.T369K FAM123C_uc010fmv.2_Missense_Mutation_p.T369K|FAM123C_uc010fms.1_Missense_Mutation_p.T369K|FAM123C_uc010fmt.1_Missense_Mutation_p.T369K|FAM123C_uc010fmu.1_Missense_Mutation_p.T369K NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 369 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TCCATCGACACAGGCACCCCC 0.627 10 32 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566581 136566581 + Nonsense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:136566581G>T uc002tuu.1 - 8 3347 c.3336C>A c.(3334-3336)TAC>TAA p.Y1112* NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1112 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GCTCCTGCCTGTATTTCTCAT 0.587 34 54 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141598565 141598565 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:141598565C>A uc002tvj.1 - 30 6008 c.5036G>T c.(5035-5037)AGG>ATG p.R1679M NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1679 Extracellular (Potential).|LDL-receptor class B 15. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATCTAGCCTTGCCACATT 0.398 TSP Lung(27;0.18) 4 57 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152525607 152525607 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:152525607C>T uc010fnx.2 - 39 4736 c.4545G>A c.(4543-4545)AAG>AAA p.K1515K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1515 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CAATAGTATACTTGTGCTTCA 0.393 3 8 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167108342 167108342 + Silent SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:167108342A>T uc010fpl.2 - 18 3713 c.3372T>A c.(3370-3372)CCT>CCA p.P1124P uc002udp.2_RNA NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1135 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCCTTCTCCAGGCAAAGGGT 0.458 20 22 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171709291 171709291 + Missense_Mutation SNP G A A rs143058194 byFrequency TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:171709291G>A uc002ugi.2 + 13 1674 c.1252G>A c.(1252-1254)GTC>ATC p.V418I GAD1_uc010fqc.2_Missense_Mutation_p.V37I NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 418 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGCCATTCTCGTCAAGGAAAA 0.512 7 25 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189916169 189916169 + Silent SNP C A A rs141089340 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:189916169C>A uc002uqk.2 - 42 3083 c.2808G>T c.(2806-2808)GGG>GGT p.G936G COL5A2_uc010frx.2_Silent_p.G512G NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 936 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GTCCCTCCTTCCCGGGTTCCC 0.597 11 19 --- --- --- --- PASS CASP8 841 broad.mit.edu 37 2 202149561 202149561 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:202149561A>G uc002uxr.1 + 9 1034 c.825A>G c.(823-825)GAA>GAG p.E275E CASP8_uc002uxp.1_Silent_p.E292E|CASP8_uc002uxq.1_Silent_p.E260E|CASP8_uc002uxt.1_Silent_p.E334E|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Silent_p.E260E|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Silent_p.E191E NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 275 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CGACCTTTGAAGAGCTTCATT 0.438 HNSCC(4;0.00038) 20 45 --- --- --- --- PASS UNC80 285175 broad.mit.edu 37 2 210650903 210650903 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:210650903C>G uc010zjc.1 + 5 794 c.714C>G c.(712-714)AAC>AAG p.N238K UNC80_uc002vdj.1_Missense_Mutation_p.N238K NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 238 integral to membrane 0 CCATCAGGAACATCATTACAG 0.498 6 41 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211481167 211481167 + Silent SNP C A A rs139626513 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:211481167C>A uc002vee.3 + 21 2721 c.2589C>A c.(2587-2589)TCC>TCA p.S863S CPS1_uc010fur.2_Silent_p.S869S|CPS1_uc010fus.2_Silent_p.S412S|LOC29034_uc002vef.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 863 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACAACATGTCCCTTGATGAGA 0.363 23 42 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211481168 211481168 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:211481168C>A uc002vee.3 + 21 2722 c.2590C>A c.(2590-2592)CTT>ATT p.L864I CPS1_uc010fur.2_Missense_Mutation_p.L870I|CPS1_uc010fus.2_Missense_Mutation_p.L413I|LOC29034_uc002vef.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 864 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAACATGTCCCTTGATGAGAT 0.363 23 43 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227895291 227895291 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:227895291G>T uc010zlt.1 - 41 4495 c.3841C>A c.(3841-3843)CCT>ACT p.P1281T NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1281 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACACTCCCAGGGAGGCCTGGA 0.557 16 51 --- --- --- --- PASS C2orf57 165100 broad.mit.edu 37 2 232458019 232458019 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:232458019G>A uc002vrz.2 + 1 408 c.357G>A c.(355-357)CAG>CAA p.Q119Q NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 119 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) GGACAAGTCAGAGTCTAGTGG 0.547 15 36 --- --- --- --- PASS UGT1A5 54579 broad.mit.edu 37 2 234681017 234681017 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:234681017C>T uc002vuw.2 + 5 1417 c.1417C>T c.(1417-1419)CCA>TCA p.P473S UGT1A8_uc002vup.2_Missense_Mutation_p.P469S|UGT1A10_uc002vur.2_Missense_Mutation_p.P469S|UGT1A9_uc002vus.2_Missense_Mutation_p.P469S|UGT1A7_uc002vut.2_Missense_Mutation_p.P469S|UGT1A6_uc002vuu.2_Missense_Mutation_p.P204S|UGT1A6_uc002vuv.3_Missense_Mutation_p.P471S|UGT1A4_uc002vux.2_Missense_Mutation_p.P473S|UGT1A3_uc002vuy.2_Missense_Mutation_p.P473S|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.P472S NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 473 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CAAGGGCGCGCCACACCTGCG 0.622 24 74 --- --- --- --- PASS EPM2AIP1 9852 broad.mit.edu 37 3 37034359 37034359 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:37034359C>A uc003cgk.2 - 1 437 c.210G>T c.(208-210)GCG>GCT p.A70A MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 70 endoplasmic reticulum 0 GCTCGCCGTCCGCCACATACC 0.677 8 19 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97887798 97887798 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:97887798C>A uc011bgu.1 + 1 255 c.255C>A c.(253-255)TTC>TTA p.F85L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGAATAACTTCTTAGCTAAGA 0.393 12 121 --- --- --- --- PASS ST3GAL6 10402 broad.mit.edu 37 3 98487337 98487337 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:98487337T>A uc003dsz.2 + 2 289 c.53T>A c.(52-54)GTA>GAA p.V18E ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.V18E|ST3GAL6_uc010hpd.2_Missense_Mutation_p.V71E NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 18 Helical; Signal-anchor for type II membrane protein; (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 CTCTATTATGTACTGCATTGC 0.393 16 93 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129281766 129281766 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:129281766C>A uc003emx.2 - 27 4789 c.4689G>T c.(4687-4689)CAG>CAT p.Q1563H PLXND1_uc011blb.1_Missense_Mutation_p.Q231H NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1563 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCCACAGCCCTGGAAGGACA 0.597 3 23 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129284822 129284822 + Silent SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:129284822A>T uc003emx.2 - 24 4330 c.4230T>A c.(4228-4230)ATT>ATA p.I1410I PLXND1_uc011blb.1_Silent_p.I78I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1410 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGAACAAGCTAATTCCCTCTT 0.547 5 25 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129290106 129290106 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:129290106G>A uc003emx.2 - 18 3477 c.3377C>T c.(3376-3378)TCC>TTC p.S1126F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1126 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 GGCCCCGGGGGACGGGCAGGT 0.647 13 21 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130189746 130189746 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:130189746G>A uc010htj.1 + 39 8003 c.7509G>A c.(7507-7509)ATG>ATA p.M2503I COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.M542I NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2503 Nonhelical region. axon guidance|cell adhesion collagen 0 CCGAAGATATGAAAGCCACAT 0.433 4 17 --- --- --- --- PASS SAMD7 344658 broad.mit.edu 37 3 169644912 169644912 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:169644912G>T uc003fgd.2 + 6 1129 c.862G>T c.(862-864)GCA>TCA p.A288S SAMD7_uc003fge.2_Missense_Mutation_p.A288S|SAMD7_uc011bpo.1_Missense_Mutation_p.A189S NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 288 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GCAGATTTTTGCAACCTGTGA 0.557 10 106 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172634157 172634157 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:172634157G>T uc003fin.3 - 9 1611 c.1453C>A c.(1453-1455)CTA>ATA p.L485I NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 485 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) ATGGTTGCTAGCTCTGCCATT 0.473 60 371 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183490318 183490318 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:183490318G>T uc003fly.2 + 16 2368 c.2173G>T c.(2173-2175)GCT>TCT p.A725S NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 725 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTACTGCCGCTGGTCCTCA 0.507 42 25 --- --- --- --- PASS ACAP2 23527 broad.mit.edu 37 3 195027282 195027282 + Silent SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr3:195027282G>T uc003fun.3 - 13 1315 c.1074C>A c.(1072-1074)ACC>ACA p.T358T NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 358 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TAGCAATACTGGTCTGAACAG 0.383 25 298 --- --- --- --- PASS RGS12 6002 broad.mit.edu 37 4 3432376 3432376 + Missense_Mutation SNP A C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr4:3432376A>C uc003ggw.2 + 17 4712 c.3808A>C c.(3808-3810)AGC>CGC p.S1270R RGS12_uc003ggv.2_Missense_Mutation_p.S1270R|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.S622R|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.S612R|RGS12_uc010icv.2_Missense_Mutation_p.S469R NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1270 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGCAGCGACAGCCCGTCCAC 0.706 10 3 --- --- --- --- PASS SORCS2 57537 broad.mit.edu 37 4 7727000 7727000 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr4:7727000G>A uc003gkb.3 + 20 2731 c.2731G>A c.(2731-2733)GGC>AGC p.G911S SORCS2_uc011bwi.1_Missense_Mutation_p.G739S NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 911 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 CTGGTGGATCGGCCACAGCCT 0.607 18 8 --- --- --- --- PASS SEPSECS 51091 broad.mit.edu 37 4 25160666 25160666 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr4:25160666T>A uc003grg.2 - 2 391 c.178A>T c.(178-180)ATC>TTC p.I60F uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Missense_Mutation_p.I59F|SEPSECS_uc003grh.2_Intron NM_153825 NP_722547 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) 60 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding 0 Breast(46;0.173) Pyridoxal Phosphate(DB00114) CTGTCCATGATTGCAAGTTCA 0.378 42 20 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96222807 96222807 + Nonsense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr4:96222807C>T uc003htp.1 - 3 594 c.440G>A c.(439-441)TGG>TAG p.W147* UNC5C_uc010ilc.1_Nonsense_Mutation_p.W147*|UNC5C_uc003htq.2_Nonsense_Mutation_p.W147* NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 147 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CGCGGAGCTCCAGGCCACACA 0.507 34 21 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110915996 110915996 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr4:110915996G>T uc003hzy.3 + 20 3417 c.2965G>T c.(2965-2967)GTG>TTG p.V989L EGF_uc011cfu.1_Missense_Mutation_p.V947L|EGF_uc011cfv.1_Missense_Mutation_p.V948L|EGF_uc010imk.2_Missense_Mutation_p.V137L NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 989 EGF-like 9.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CCATGATGGTGTGTGCATGTA 0.468 17 26 --- --- --- --- PASS CAPSL 133690 broad.mit.edu 37 5 35910625 35910625 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:35910625T>C uc003jjt.1 - 3 253 c.158A>G c.(157-159)GAC>GGC p.D53G CAPSL_uc003jju.1_Missense_Mutation_p.D53G NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 53 EF-hand 1.|1 (Potential). cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATTATTATCGTCATCCATAAT 0.318 14 58 --- --- --- --- PASS CAPSL 133690 broad.mit.edu 37 5 35910626 35910626 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:35910626C>A uc003jjt.1 - 3 252 c.157G>T c.(157-159)GAC>TAC p.D53Y CAPSL_uc003jju.1_Missense_Mutation_p.D53Y NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 53 EF-hand 1.|1 (Potential). cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTATTATCGTCATCCATAATT 0.313 13 56 --- --- --- --- PASS CENPK 64105 broad.mit.edu 37 5 64850711 64850711 + Silent SNP C A A rs75497175 byFrequency TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:64850711C>A uc003jts.2 - 3 236 c.24G>T c.(22-24)CCG>CCT p.P8P CENPK_uc003jtt.2_5'UTR|CENPK_uc003jtu.2_Silent_p.P8P NM_022145 NP_071428 Q9BS16 CENPK_HUMAN SoxLZ/Sox6 leucine zipper binding protein 8 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00466) TAGTACTATCCGGATCTAGAT 0.274 40 63 --- --- --- --- PASS SV2C 22987 broad.mit.edu 37 5 75427860 75427860 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:75427860C>T uc003kei.1 + 2 419 c.285C>T c.(283-285)GGC>GGT p.G95G NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 95 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGTATCAGGGCATCCCCAGTA 0.542 4 6 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80363979 80363979 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:80363979T>C uc003kha.1 + 3 524 c.524T>C c.(523-525)ATC>ACC p.I175T RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_5'Flank NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 175 Potential. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GACACAGAAATCGAAAGGCTT 0.383 24 22 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86679553 86679553 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:86679553T>A uc003kiw.2 + 21 2832 c.2714T>A c.(2713-2715)ATC>AAC p.I905N RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.I728N|RASA1_uc011ctv.1_Missense_Mutation_p.I738N|RASA1_uc011ctw.1_Missense_Mutation_p.I739N|RASA1_uc010jaw.2_Missense_Mutation_p.I727N NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 905 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTTCGACTCATCTGTCCTGCC 0.284 16 13 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113831669 113831669 + Silent SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:113831669G>T uc003kqo.2 + 8 1987 c.1530G>T c.(1528-1530)CTG>CTT p.L510L KCNN2_uc003kqp.2_Silent_p.L162L|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 510 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTGTTACCCTGGAAACAAAAC 0.443 27 54 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113831670 113831670 + Nonsense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:113831670G>T uc003kqo.2 + 8 1988 c.1531G>T c.(1531-1533)GAA>TAA p.E511* KCNN2_uc003kqp.2_Nonsense_Mutation_p.E163*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 511 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TGTTACCCTGGAAACAAAACT 0.443 28 51 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572876 140572876 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr5:140572876G>A uc003lix.2 + 1 925 c.751G>A c.(751-753)GCT>ACT p.A251T NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 251 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGACCCAGGCTCCAGAAAA 0.498 22 21 --- --- --- --- PASS ATF6B 1388 broad.mit.edu 37 6 32085724 32085724 + Nonsense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:32085724C>A uc003nzn.2 - 12 1369 c.1336G>T c.(1336-1338)GAG>TAG p.E446* TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_Nonsense_Mutation_p.E19*|ATF6B_uc003nzo.2_Nonsense_Mutation_p.E443*|ATF6B_uc003nzp.1_Nonsense_Mutation_p.E135* NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 446 Lumenal (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TGAACTGGCTCTTGCTCTGAG 0.607 17 15 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38830132 38830132 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:38830132A>G uc003ooe.1 + 42 6157 c.5557A>G c.(5557-5559)ACA>GCA p.T1853A NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CACTGGCAAAACAGAAACCAC 0.463 41 42 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40360526 40360526 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:40360526C>A uc003oph.1 - 3 1991 c.1526G>T c.(1525-1527)GGC>GTC p.G509V NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 509 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CTGGGCGCAGCCCACGATGTT 0.597 9 12 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101095150 101095150 + Nonsense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:101095150T>A uc003pqk.2 - 21 3759 c.3430A>T c.(3430-3432)AAA>TAA p.K1144* ASCC3_uc011eai.1_Nonsense_Mutation_p.K1046* NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1144 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTAAGCTTTTTTTCTTCTAAT 0.353 23 53 --- --- --- --- PASS AIM1 202 broad.mit.edu 37 6 106992566 106992566 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:106992566A>G uc003prh.2 + 10 4423 c.3936A>G c.(3934-3936)ATA>ATG p.I1312M AIM1_uc003pri.2_Missense_Mutation_p.I116M NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1312 Beta/gamma crystallin 'Greek key' 6. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TACGACCTATATTAGGTGTAA 0.383 24 55 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117704610 117704610 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:117704610A>G uc003pxp.1 - 16 2565 c.2366T>C c.(2365-2367)GTG>GCG p.V789A ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 789 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CATGTCATTCACCAATAGCTT 0.428 T GOPC|ROS1 glioblastoma|NSCLC 46 107 --- --- --- --- PASS TMEM200A 114801 broad.mit.edu 37 6 130762050 130762050 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:130762050G>C uc003qca.2 + 3 1354 c.483G>C c.(481-483)AGG>AGC p.R161S TMEM200A_uc010kfh.2_Missense_Mutation_p.R161S|TMEM200A_uc010kfi.2_Missense_Mutation_p.R161S|TMEM200A_uc003qcb.2_Missense_Mutation_p.R161S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 161 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TACACATGAGGGATATCTATT 0.408 16 51 --- --- --- --- PASS VIP 7432 broad.mit.edu 37 6 153073419 153073419 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:153073419G>T uc003qpe.2 + 2 279 c.107G>T c.(106-108)AGG>ATG p.R36M VIP_uc003qpf.2_Missense_Mutation_p.R36M|VIP_uc010kjd.2_Missense_Mutation_p.R36M NM_003381 NP_003372 P01282 VIP_HUMAN vasoactive intestinal peptide isoform 1 36 body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation extracellular region neuropeptide hormone activity 0 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144) TCTGCTCTCAGGTAAGTTCCC 0.418 13 33 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169623439 169623439 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:169623439G>A uc003qwt.2 - 19 3153 c.2905C>T c.(2905-2907)CCC>TCC p.P969S NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 969 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GTCCCTTTGGGATCCAAGGGG 0.502 18 53 --- --- --- --- PASS AOAH 313 broad.mit.edu 37 7 36656025 36656025 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:36656025G>T uc003tfh.3 - 11 1208 c.807C>A c.(805-807)CAC>CAA p.H269Q AOAH_uc010kxf.2_Missense_Mutation_p.H269Q|AOAH_uc011kba.1_Missense_Mutation_p.H237Q NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 269 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 CAGGAGAGATGTGAAAATGAG 0.438 10 14 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77975258 77975258 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:77975258C>T uc003ugx.2 - 8 1460 c.1206G>A c.(1204-1206)CTG>CTA p.L402L MAGI2_uc003ugy.2_Silent_p.L402L|MAGI2_uc010ldx.1_Silent_p.L11L|MAGI2_uc010ldy.1_Silent_p.L11L|MAGI2_uc011kgr.1_Silent_p.L234L|MAGI2_uc011kgs.1_Silent_p.L239L|RPL13AP17_uc010ldz.2_5'Flank NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 402 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGGGGCCTGCAGGGGCTTTG 0.443 29 70 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88423638 88423638 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:88423638G>A uc003ujv.2 - 2 801 c.619C>T c.(619-621)CTA>TTA p.L207L ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 207 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) GGGAGGAGTAGGTCAGGTGCA 0.408 45 45 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88423646 88423646 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:88423646G>A uc003ujv.2 - 2 793 c.611C>T c.(610-612)GCA>GTA p.A204V ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 204 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) TAGGTCAGGTGCAACTTGGTG 0.403 45 49 --- --- --- --- PASS PPP1R9A 55607 broad.mit.edu 37 7 94827677 94827677 + Nonsense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:94827677G>T uc003unp.2 + 6 2053 c.1771G>T c.(1771-1773)GAA>TAA p.E591* PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E591*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E591*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E591*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E591* NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 591 PDZ. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TATTGGGCGGGAAAAACCAGG 0.318 HNSCC(28;0.073) 20 30 --- --- --- --- PASS PNPLA8 50640 broad.mit.edu 37 7 108119674 108119674 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:108119674C>T uc003vff.1 - 11 2435 c.2028G>A c.(2026-2028)TTG>TTA p.L676L PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Silent_p.L676L|PNPLA8_uc003vfi.1_Silent_p.L576L|PNPLA8_uc003vfj.1_Silent_p.L676L|PNPLA8_uc003vfk.1_Silent_p.L576L NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 676 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 GTTTAGTTTTCAAGCTTGTGT 0.393 29 40 --- --- --- --- PASS WNT2 7472 broad.mit.edu 37 7 116955272 116955272 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:116955272G>A uc003viz.2 - 3 741 c.441C>T c.(439-441)GAC>GAT p.D147D WNT2_uc003vja.2_Silent_p.D51D NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 147 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TGCCTTTGCTGTCCTTGGCGC 0.438 31 47 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154585838 154585838 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:154585838G>T uc003wlk.2 + 11 1315 c.1186G>T c.(1186-1188)GTG>TTG p.V396L DPP6_uc003wli.2_Missense_Mutation_p.V332L|DPP6_uc003wlm.2_Missense_Mutation_p.V334L|DPP6_uc011kvq.1_Missense_Mutation_p.V289L NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 396 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CAAGGTCGCCGTGACCTGGCT 0.647 6 10 --- --- --- --- PASS MNX1 3110 broad.mit.edu 37 7 156798434 156798434 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr7:156798434C>T uc003wnd.1 - 3 1289 c.986G>A c.(985-987)GGA>GAA p.G329E MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.G122E|MNX1_uc003wnc.1_Missense_Mutation_p.G117E|MNX1_uc010lqr.1_RNA NM_005515 NP_005506 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 isoform 1 329 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCTCGGCTCCCGGCTCCTC 0.612 Currarino_syndrome 7 13 --- --- --- --- PASS XKR6 286046 broad.mit.edu 37 8 10756095 10756095 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:10756095A>G uc003wtk.1 - 3 1320 c.1293T>C c.(1291-1293)TTT>TTC p.F431F NM_173683 NP_775954 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related 431 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CCTTGACGTTAAACCAGCAGA 0.463 15 13 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35541202 35541202 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:35541202C>T uc003xjr.1 + 5 1036 c.708C>T c.(706-708)ATC>ATT p.I236I UNC5D_uc003xjs.1_Silent_p.I231I|UNC5D_uc003xjt.1_Silent_p.I5I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 236 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CAGCCAACATCGTGGCTAAGA 0.532 13 19 --- --- --- --- PASS NKAIN3 286183 broad.mit.edu 37 8 63659621 63659621 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:63659621T>A uc010lyq.1 + 4 536 c.404T>A c.(403-405)GTC>GAC p.V135D NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 135 integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) TACGTCTCTGTCACAGGCTGC 0.498 11 23 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71060681 71060681 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:71060681T>A uc003xyn.1 - 12 2594 c.2432A>T c.(2431-2433)GAT>GTT p.D811V NCOA2_uc011lfb.1_5'UTR NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 811 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTGCAAATCATCCAAAATCTC 0.478 T RUNXBP2 AML OREG0018819 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 38 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618090 77618090 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:77618090C>A uc003yav.2 + 2 2154 c.1767C>A c.(1765-1767)CAC>CAA p.H589Q ZFHX4_uc003yat.1_Missense_Mutation_p.H589Q|ZFHX4_uc003yau.1_Missense_Mutation_p.H589Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H589Q NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 589 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCACTCCTCACCAGCATGGCT 0.582 HNSCC(33;0.089) 10 46 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618091 77618091 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:77618091C>A uc003yav.2 + 2 2155 c.1768C>A c.(1768-1770)CAG>AAG p.Q590K ZFHX4_uc003yat.1_Missense_Mutation_p.Q590K|ZFHX4_uc003yau.1_Missense_Mutation_p.Q590K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q590K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 590 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CACTCCTCACCAGCATGGCTT 0.582 HNSCC(33;0.089) 11 47 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88886097 88886097 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:88886097C>A uc003ydz.2 - 1 200 c.103G>T c.(103-105)GGT>TGT p.G35C NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 35 ovary(1) 1 CTGAGGAAACCTAGCTGGTTC 0.517 22 69 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105367395 105367395 + Silent SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:105367395G>C uc003ylx.1 + 3 1369 c.1320G>C c.(1318-1320)CTG>CTC p.L440L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 440 Cytoplasmic. osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAAGACGGCTGAGTCTCTATC 0.473 10 39 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110455259 110455259 + Missense_Mutation SNP A C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:110455259A>C uc003yne.2 + 36 4582 c.4478A>C c.(4477-4479)CAA>CCA p.Q1493P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1493 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTTCTCCAAGGAGTCATT 0.408 HNSCC(38;0.096) 10 193 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113308094 113308094 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:113308094T>C uc003ynu.2 - 54 8741 c.8582A>G c.(8581-8583)CAC>CGC p.H2861R CSMD3_uc003yns.2_Missense_Mutation_p.H2063R|CSMD3_uc003ynt.2_Missense_Mutation_p.H2821R|CSMD3_uc011lhx.1_Missense_Mutation_p.H2692R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2861 Extracellular (Potential).|Sushi 18. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGACCAATTGTGATCCTGTTG 0.388 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 25 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113326230 113326230 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:113326230G>A uc003ynu.2 - 49 7760 c.7601C>T c.(7600-7602)TCT>TTT p.S2534F CSMD3_uc003yns.2_Missense_Mutation_p.S1736F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2494F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2430F|CSMD3_uc003ynw.1_Missense_Mutation_p.S245F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2534 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATTAAAAGCAGATGAATAATC 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 56 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142228546 142228546 + Missense_Mutation SNP T A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:142228546T>A uc003ywd.1 - 4 1348 c.1040A>T c.(1039-1041)TAC>TTC p.Y347F SLC45A4_uc003ywc.1_Missense_Mutation_p.Y347F|SLC45A4_uc010meq.1_Missense_Mutation_p.Y345F NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 398 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CACCCTGGTGTAGCCGCCGAG 0.632 17 42 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145151539 145151539 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr8:145151539C>G uc003zaz.3 + 5 707 c.664C>G c.(664-666)CCC>GCC p.P222A CYC1_uc003zay.2_Missense_Mutation_p.P163A NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 222 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGCGAGCCACCCACCGGGGT 0.572 28 46 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32630711 32630711 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:32630711T>C uc003zrg.1 - 1 4957 c.4867A>G c.(4867-4869)ATT>GTT p.I1623V uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1623 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TACTCAGTAATTGTCTGGTAA 0.398 35 29 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79971682 79971682 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:79971682A>G uc004akr.2 + 55 7965 c.7705A>G c.(7705-7707)ATG>GTG p.M2569V VPS13A_uc004akp.3_Missense_Mutation_p.M2569V|VPS13A_uc004akq.3_Missense_Mutation_p.M2569V|VPS13A_uc004aks.2_Missense_Mutation_p.M2530V NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2569 TPR 7. Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATGGAAGCCAATGAGTGTAAA 0.343 21 22 --- --- --- --- PASS ISCA1 81689 broad.mit.edu 37 9 88880991 88880991 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:88880991C>A uc004aop.2 - 4 474 c.357G>T c.(355-357)GGG>GGT p.G119G GOLM1_uc010mqd.1_Intron NM_030940 NP_112202 Q9BUE6 ISCA1_HUMAN HESB like domain containing 2 precursor 119 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) AGCCACAAGTCCCTTTGATGT 0.423 35 126 --- --- --- --- PASS ISCA1 81689 broad.mit.edu 37 9 88880992 88880992 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:88880992C>T uc004aop.2 - 4 473 c.356G>A c.(355-357)GGG>GAG p.G119E GOLM1_uc010mqd.1_Intron NM_030940 NP_112202 Q9BUE6 ISCA1_HUMAN HESB like domain containing 2 precursor 119 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375) GCCACAAGTCCCTTTGATGTT 0.423 35 127 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104356945 104356945 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:104356945C>T uc004bbr.2 - 1 339 c.268G>A c.(268-270)GAC>AAC p.D90N GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 87 EF-hand 3. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) TGCTCCTCGTCGCCCTTGACG 0.532 64 61 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115805839 115805839 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:115805839C>A uc004bgm.1 - 4 1087 c.1059G>T c.(1057-1059)CAG>CAT p.Q353H ZFP37_uc011lwz.1_Missense_Mutation_p.Q368H|ZFP37_uc011lxa.1_Missense_Mutation_p.Q354H NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 353 C2H2-type 3; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTTTGCCACACTGAATACATT 0.408 86 82 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 122004337 122004337 + Silent SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:122004337A>T uc004bkc.2 - 4 1023 c.567T>A c.(565-567)ACT>ACA p.T189T DBC1_uc004bkd.2_Silent_p.T189T NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 189 MACPF. cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TGATTGCTCCAGTTGATATCT 0.488 44 41 --- --- --- --- PASS RABGAP1 23637 broad.mit.edu 37 9 125760918 125760918 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:125760918C>T uc011lzh.1 + 10 1381 c.1247C>T c.(1246-1248)ACA>ATA p.T416I RABGAP1_uc004bnl.3_RNA NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 416 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 TTGGTAATAACAGAAGTACAG 0.398 44 139 --- --- --- --- PASS LRIT2 340745 broad.mit.edu 37 10 85982265 85982265 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:85982265G>T uc001kcy.2 - 3 1072 c.1064C>A c.(1063-1065)TCT>TAT p.S355Y LRIT2_uc010qmc.1_Missense_Mutation_p.S365Y NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 355 integral to membrane ovary(2) 2 GATGGAAAGAGAATCAGGTGC 0.542 10 18 --- --- --- --- PASS FAM190B 54462 broad.mit.edu 37 10 86133468 86133468 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:86133468C>T uc001kdh.1 + 3 1705 c.1511C>T c.(1510-1512)TCT>TTT p.S504F FAM190B_uc001kdg.1_Missense_Mutation_p.S504F|FAM190B_uc010qmd.1_Missense_Mutation_p.S504F NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 504 ovary(3)|skin(1) 4 CTCTCTCCATCTGATAGCTCT 0.433 3 35 --- --- --- --- PASS C10orf12 26148 broad.mit.edu 37 10 98744528 98744528 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:98744528A>G uc001kmv.2 + 1 3488 c.3381A>G c.(3379-3381)CCA>CCG p.P1127P NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1127 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCAAGAGGCCAGCTGCAAGGG 0.532 5 22 --- --- --- --- PASS TAF5 6877 broad.mit.edu 37 10 105138194 105138194 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:105138194C>G uc001kwv.2 + 3 1023 c.1000C>G c.(1000-1002)CAG>GAG p.Q334E TAF5_uc010qqq.1_Missense_Mutation_p.Q334E NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 334 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GAACATAGTTCAGGAGCACCT 0.458 18 19 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115380405 115380405 + Missense_Mutation SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:115380405T>G uc001laj.2 - 25 2996 c.2832A>C c.(2830-2832)TTA>TTC p.L944F NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.L909F|NRAP_uc001lal.3_Missense_Mutation_p.L944F NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 944 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCTCCACATTTAATGACCCGG 0.512 48 98 --- --- --- --- PASS FGFR2 2263 broad.mit.edu 37 10 123263335 123263335 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:123263335C>G uc010qtk.1 - 11 2055 c.1408G>C c.(1408-1410)GAG>CAG p.E470Q FGFR2_uc010qtg.1_Missense_Mutation_p.E358Q|FGFR2_uc010qth.1_Missense_Mutation_p.E355Q|FGFR2_uc010qti.1_Missense_Mutation_p.E381Q|FGFR2_uc010qtj.1_Missense_Mutation_p.E471Q|FGFR2_uc010qtl.1_Missense_Mutation_p.E354Q|FGFR2_uc010qtm.1_Missense_Mutation_p.E353Q|FGFR2_uc001lfl.3_Missense_Mutation_p.E471Q|FGFR2_uc001lfm.2_Missense_Mutation_p.E382Q|FGFR2_uc001lfg.3_Missense_Mutation_p.E78Q NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 470 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TTTGGGTCCTCTGGAAGTTCA 0.502 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 3 35 --- --- --- --- PASS EBF3 253738 broad.mit.edu 37 10 131665464 131665464 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr10:131665464G>C uc001lki.1 - 10 1012 c.953C>G c.(952-954)ACC>AGC p.T318S NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 327 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GTAGGAGAGGGTCACTTCGAC 0.577 3 30 --- --- --- --- PASS ZNF143 7702 broad.mit.edu 37 11 9516304 9516304 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:9516304C>T uc001mhr.2 + 8 875 c.757C>T c.(757-759)CAT>TAT p.H253Y ZNF143_uc009yfu.2_Missense_Mutation_p.H252Y|ZNF143_uc010rby.1_Missense_Mutation_p.H222Y NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 253 C2H2-type 1. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) AACAGCTCATCATCTCAAGGT 0.323 9 45 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735795 55735795 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:55735795G>T uc010rit.1 - 1 145 c.145C>A c.(145-147)CCC>ACC p.P49T NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 49 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AAATACATGGGAGTCTGGAGA 0.338 18 22 --- --- --- --- PASS OR5AK2 390181 broad.mit.edu 37 11 56757107 56757107 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:56757107C>T uc010rjp.1 + 1 719 c.719C>T c.(718-720)ACA>ATA p.T240I NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 TCCTTCTCAACATGTGCTTCC 0.413 62 34 --- --- --- --- PASS ATG2A 23130 broad.mit.edu 37 11 64678310 64678310 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:64678310G>C uc001obx.2 - 11 1698 c.1583C>G c.(1582-1584)CCC>CGC p.P528R NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 528 protein binding ovary(1)|central_nervous_system(1) 2 GGTGCCCCGGGGCCACAGACA 0.672 8 3 --- --- --- --- PASS PPP2R5B 5526 broad.mit.edu 37 11 64693371 64693371 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:64693371C>G uc001oby.2 + 2 750 c.165C>G c.(163-165)AAC>AAG p.N55K PPP2R5B_uc001obz.2_Missense_Mutation_p.N55K NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 55 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 ATCAGAGCAACCAGCAAGAGC 0.692 9 7 --- --- --- --- PASS KDM2A 22992 broad.mit.edu 37 11 67017759 67017759 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:67017759G>A uc001ojw.2 + 17 3122 c.2258G>A c.(2257-2259)CGC>CAC p.R753H KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.R447H|KDM2A_uc010rpn.1_Missense_Mutation_p.R314H|KDM2A_uc001ojz.1_Missense_Mutation_p.R211H|KDM2A_uc001oka.2_5'Flank NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 753 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 AGTGCCAGCCGCGATGAGCGC 0.632 13 13 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89413808 89413808 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:89413808A>G uc001pda.2 + 8 1006 c.480A>G c.(478-480)CCA>CCG p.P160P NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 160 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ATTGTACACCACTGATGTACA 0.294 4 19 --- --- --- --- PASS PANX3 116337 broad.mit.edu 37 11 124481559 124481559 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:124481559G>A uc001qah.2 + 1 107 c.107G>A c.(106-108)CGG>CAG p.R36Q NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN pannexin 3 36 Cytoplasmic (Potential). protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCCCTGGACCGGATAGTCAAG 0.597 33 13 --- --- --- --- PASS MLF2 8079 broad.mit.edu 37 12 6859057 6859057 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:6859057C>A uc010sfi.1 - 7 579 c.516G>T c.(514-516)ACG>ACT p.T172T MLF2_uc001qqp.2_Silent_p.T172T|MLF2_uc009zey.1_Silent_p.T172T NM_005439 NP_005430 Q15773 MLF2_HUMAN myeloid leukemia factor 2 172 defense response cytoplasm|nucleus protein binding large_intestine(1) 1 CCTGGTCCCCCGTGCGATGGT 0.612 3 68 --- --- --- --- PASS TPI1 7167 broad.mit.edu 37 12 6979288 6979288 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:6979288A>G uc001qrk.2 + 6 657 c.619A>G c.(619-621)ATC>GTC p.I207V TPI1_uc010sfo.1_Missense_Mutation_p.I125V NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 207 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 GAGCACCCGTATCATTTATGG 0.572 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 50 --- --- --- --- PASS CD69 969 broad.mit.edu 37 12 9913369 9913369 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:9913369C>A uc001qwk.2 - 1 129 c.48G>T c.(46-48)CCG>CCT p.P16P CD69_uc010sgu.1_Silent_p.P16P|CD69_uc010sgv.1_Silent_p.P16P NM_001781 NP_001772 Q07108 CD69_HUMAN CD69 molecule 16 Cytoplasmic (Potential). integral to plasma membrane sugar binding|transmembrane receptor activity 0 GTCCACTCTCCGGATGCAAAG 0.368 4 108 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14610203 14610203 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:14610203C>A uc001rbw.2 + 8 2290 c.2132C>A c.(2131-2133)CCA>CAA p.P711Q ATF7IP_uc010shs.1_Intron|ATF7IP_uc001rbu.2_Missense_Mutation_p.P711Q|ATF7IP_uc001rbv.1_Missense_Mutation_p.P710Q|ATF7IP_uc001rbx.2_Missense_Mutation_p.P710Q|ATF7IP_uc010sht.1_Intron|ATF7IP_uc001rby.3_Missense_Mutation_p.P711Q|ATF7IP_uc001rca.2_Missense_Mutation_p.P711Q NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 711 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AGTGCACCACCATCCTTTCAA 0.343 13 27 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49434608 49434608 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:49434608G>C uc001rta.3 - 31 6945 c.6945C>G c.(6943-6945)CAC>CAG p.H2315Q NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2315 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCCACCCAGGTGGGTGCCTG 0.612 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 16 --- --- --- --- PASS OSBPL8 114882 broad.mit.edu 37 12 76791654 76791654 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:76791654C>A uc001sye.1 - 8 972 c.492G>T c.(490-492)TGG>TGT p.W164C OSBPL8_uc001syf.1_Missense_Mutation_p.W122C|OSBPL8_uc001syg.1_Missense_Mutation_p.W122C|OSBPL8_uc001syh.1_Missense_Mutation_p.W139C NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 164 PH. lipid transport lipid binding ovary(1) 1 ATAACTTGGTCCAGCTCTTTA 0.378 16 26 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513708 78513708 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:78513708C>T uc001syp.2 + 15 3905 c.3732C>T c.(3730-3732)GCC>GCT p.A1244A NAV3_uc001syo.2_Silent_p.A1244A|NAV3_uc010sub.1_Silent_p.A744A|NAV3_uc009zsf.2_Silent_p.A252A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1244 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAGATATTGCCTCACCCACAT 0.378 HNSCC(70;0.22) 10 23 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81545666 81545666 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:81545666G>T uc001szl.1 + 6 1056 c.965G>T c.(964-966)TGG>TTG p.W322L ACSS3_uc001szm.1_Missense_Mutation_p.W321L|ACSS3_uc001szn.1_Missense_Mutation_p.W4L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 322 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 ATGCTACACTGGTCAATGTCT 0.348 13 35 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104097022 104097022 + Silent SNP A C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr12:104097022A>C uc001tjw.2 + 35 3997 c.3811A>C c.(3811-3813)AGA>CGA p.R1271R NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1271 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TCAGAAGAACAGATGTGATAA 0.373 18 40 --- --- --- --- PASS GJB2 2706 broad.mit.edu 37 13 20763463 20763463 + Silent SNP C A A rs139362103 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr13:20763463C>A uc001umy.2 - 2 473 c.258G>T c.(256-258)ACG>ACT p.T86T NM_004004 NP_003995 P29033 CXB2_HUMAN gap junction protein beta 2 86 Helical; (Potential). T -> R (in DFNB1A; does not form gap junctions since the mutated protein is confined in the cytoplasm and not transported to the cell membrane; when the mutation is co-expressed with the wild-type protein ionic and biochemical coupling is normal consistent with the recessive nature of the mutation). T -> S (in Ref. 1; AAD21314). cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) GGAGCGCTGGCGTGGACACGA 0.557 Keratitis_Ichthyosis_and_Deafness_syndrome OREG0022282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 32 --- --- --- --- PASS KLF12 11278 broad.mit.edu 37 13 74269769 74269769 + Nonsense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr13:74269769C>T uc001vjf.2 - 8 1289 c.1067G>A c.(1066-1068)TGG>TAG p.W356* KLF12_uc010aeq.2_Nonsense_Mutation_p.W356* NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 356 C2H2-type 2. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) AGCGAACTTCCAGGTGCAGCC 0.512 11 41 --- --- --- --- PASS F10 2159 broad.mit.edu 37 13 113803804 113803804 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr13:113803804G>A uc001vsx.2 + 8 1497 c.1440G>A c.(1438-1440)GAG>GAA p.E480E F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 480 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGCCCCGGAGGTCATAACGT 0.577 13 53 --- --- --- --- PASS ACTR10 55860 broad.mit.edu 37 14 58681996 58681996 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:58681996G>A uc001xdf.2 + 7 695 c.592G>A c.(592-594)GTG>ATG p.V198M C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Translation_Start_Site|ACTR10_uc001xdh.2_Translation_Start_Site|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Translation_Start_Site NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 198 cytoplasm central_nervous_system(1) 1 CCTTCCCTCAGTGATGGGTAA 0.224 3 35 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60072158 60072158 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:60072158C>A uc001xen.1 - 5 2249 c.2040G>T c.(2038-2040)CAG>CAT p.Q680H RTN1_uc001xem.1_Missense_Mutation_p.Q260H|RTN1_uc001xek.1_Missense_Mutation_p.Q112H|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.Q97H NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 680 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCACGTAGAACTGCAGGCAGT 0.478 34 20 --- --- --- --- PASS ACOT2 10965 broad.mit.edu 37 14 74036495 74036495 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:74036495A>G uc001xon.3 + 1 724 c.551A>G c.(550-552)CAG>CGG p.Q184R ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 184 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CTGCTGTGCCAGACGCGGCAC 0.736 3 6 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89202760 89202760 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:89202760C>A uc001xxg.2 - 8 1183 c.997G>T c.(997-999)GTC>TTC p.V333F NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 333 WD 7. cytoplasm|microtubule ovary(3) 3 GTAGGATGGACAGCAAGTGCC 0.388 16 110 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102507987 102507987 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:102507987C>T uc001yks.2 + 65 12182 c.12018C>T c.(12016-12018)CAC>CAT p.H4006H NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4006 AAA 6 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCATGGCCCACATGTTTGTTT 0.577 29 129 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106790997 106790997 + RNA SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:106790997A>T uc010tyt.1 - 386 c.14621T>A Parts of antibodies, mostly variable regions. 0 ACTTCCCCTCACTGTGTCTCT 0.557 66 152 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106791065 106791065 + RNA SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:106791065C>A uc010tyt.1 - 386 c.14553G>T Parts of antibodies, mostly variable regions. 0 GCAGATACAGCGTGTTCTTGG 0.483 68 177 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107048664 107048664 + RNA SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:107048664A>T uc010tyt.1 - 145 c.6925T>A Parts of antibodies, mostly variable regions. 0 ACTTCCCCTCACTGTGTCTCT 0.562 5 71 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107048732 107048732 + RNA SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr14:107048732C>A uc010tyt.1 - 144 c.6858G>T Parts of antibodies, mostly variable regions. 0 GAAGATACAGCGTGTTCTTGG 0.522 8 140 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26793167 26793167 + Nonsense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:26793167C>A uc001zaz.2 - 9 1337 c.1195G>T c.(1195-1197)GGA>TGA p.G399* GABRB3_uc010uae.1_Nonsense_Mutation_p.G314*|GABRB3_uc001zba.2_Nonsense_Mutation_p.G399*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.G455* NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 399 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TACTGGATTCCTGAGTTGTCA 0.502 7 90 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26866572 26866572 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:26866572C>A uc001zaz.2 - 4 492 c.350G>T c.(349-351)TGG>TTG p.W117L GABRB3_uc010uae.1_Missense_Mutation_p.W32L|GABRB3_uc001zba.2_Missense_Mutation_p.W117L|GABRB3_uc001zbb.2_Missense_Mutation_p.W173L|GABRB3_uc001zbc.2_RNA NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 117 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTCGGGCACCCATAGCTGGTC 0.453 39 41 --- --- --- --- PASS USP50 373509 broad.mit.edu 37 15 50833434 50833434 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:50833434C>T uc001zyq.3 - 4 667 c.487G>A c.(487-489)GAG>AAG p.E163K NM_203494 NP_987090 E9PP86 E9PP86_HUMAN ubiquitin specific protease 50 158 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity lung(1)|breast(1) 2 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) GATCCTTTCTCATATGATCTT 0.368 33 18 --- --- --- --- PASS FAM81A 145773 broad.mit.edu 37 15 59752218 59752218 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:59752218G>A uc002agc.2 + 3 294 c.107G>A c.(106-108)AGG>AAG p.R36K FAM81A_uc010uha.1_Missense_Mutation_p.R36K NM_152450 NP_689663 Q8TBF8 FA81A_HUMAN hypothetical protein LOC145773 36 ovary(1) 1 CTGGAAGACAGGATCCTCTGC 0.532 5 23 --- --- --- --- PASS KIAA1199 57214 broad.mit.edu 37 15 81181912 81181912 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:81181912C>T uc002bfw.1 + 9 1325 c.1065C>T c.(1063-1065)TGC>TGT p.C355C KIAA1199_uc010unn.1_Silent_p.C355C NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 355 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GAAAAATATGCAATCGTCCCA 0.363 30 23 --- --- --- --- PASS C15orf42 90381 broad.mit.edu 37 15 90144552 90144552 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr15:90144552G>T uc002boe.2 + 10 2177 c.2177G>T c.(2176-2178)CGT>CTT p.R726L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 726 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTATTTCTTCGTTTGGAGATG 0.383 15 58 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2168068 2168068 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:2168068C>T uc002cos.1 - 5 1134 c.925G>A c.(925-927)GAC>AAC p.D309N PKD1_uc002cot.1_Missense_Mutation_p.D309N NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 309 Extracellular (Potential).|PKD 1. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCGGAGCCGTCTCCGAAGTCC 0.716 11 13 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3658448 3658448 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:3658448G>C uc002cvp.2 - 2 1145 c.518C>G c.(517-519)TCC>TGC p.S173C BTBD12_uc002cvq.1_Missense_Mutation_p.S173C NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 173 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTTCTCTCTGGAAAGGTTTGG 0.353 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 25 23 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21061293 21061293 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:21061293C>T uc010vbe.1 - 30 4285 c.4285G>A c.(4285-4287)GGT>AGT p.G1429S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1429 ATP (Potential).|AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCAGCTGGACCCTCTGGAGCA 0.507 33 24 --- --- --- --- PASS COG7 91949 broad.mit.edu 37 16 23417525 23417525 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:23417525C>A uc002dlo.2 - 12 1722 c.1534G>T c.(1534-1536)GGT>TGT p.G512C NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 512 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) TCCTGAAAACCAGCCAGGCTC 0.463 9 80 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48239387 48239387 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:48239387G>A uc002eff.1 - 12 2092 c.1742C>T c.(1741-1743)GCC>GTC p.A581V ABCC11_uc002efg.1_Missense_Mutation_p.A581V|ABCC11_uc002efh.1_Missense_Mutation_p.A581V|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 581 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GACGATCCAGGCCTGCTGGGG 0.622 Cerumen_Type 75 64 --- --- --- --- PASS CCDC102A 92922 broad.mit.edu 37 16 57546761 57546761 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:57546761G>A uc002elw.2 - 9 1758 c.1545C>T c.(1543-1545)AAC>AAT p.N515N NM_033212 NP_149989 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 515 Potential. ovary(1) 1 AGAGGGGAGCGTTCTGCTGCT 0.642 37 44 --- --- --- --- PASS IRF8 3394 broad.mit.edu 37 16 85952247 85952247 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr16:85952247C>A uc002fjh.2 + 7 883 c.826C>A c.(826-828)CGC>AGC p.R276S IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 276 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GCACCTGGAGCGCGGGGTGCT 0.716 9 9 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578556 7578556 + Splice_Site SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr17:7578556T>C uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(14)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) AGGGGAGTACTGTAGGAAGAG 0.552 111 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) 19 6 --- --- --- --- PASS ITGA2B 3674 broad.mit.edu 37 17 42466708 42466708 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr17:42466708G>T uc002igt.1 - 1 166 c.134C>A c.(133-135)CCC>CAC p.P45H NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 45 Extracellular (Potential).|FG-GAP 1. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GCTGCCATTGGGGCCTGCATA 0.592 50 30 --- --- --- --- PASS TBX2 6909 broad.mit.edu 37 17 59482917 59482917 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr17:59482917C>T uc010wox.1 + 6 1687 c.1406C>T c.(1405-1407)GCC>GTC p.A469V TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.A315V NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 469 Gly-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 CCCGGCCTGGCCTTTTCCAGC 0.716 4 3 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65907828 65907828 + Missense_Mutation SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr17:65907828A>T uc002jgf.2 + 11 3889 c.3828A>T c.(3826-3828)GAA>GAT p.E1276D BPTF_uc002jge.2_Missense_Mutation_p.E1402D NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1402 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGGACTTTGAAGGAAAACTGG 0.398 52 24 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78341763 78341763 + Missense_Mutation SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr17:78341763T>G uc002jyh.1 + 19 6417 c.6194T>G c.(6193-6195)TTT>TGT p.F2065C uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.F447C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATTCTAGGTTTGGGATTCAG 0.547 58 34 --- --- --- --- PASS DSC3 1825 broad.mit.edu 37 18 28586895 28586895 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr18:28586895C>A uc002kwj.3 - 12 2021 c.1866G>T c.(1864-1866)CTG>CTT p.L622L DSC3_uc002kwi.3_Silent_p.L622L NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 622 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGAGGCTCCACAGTCTACTGA 0.353 11 19 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59221671 59221671 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr18:59221671G>C uc010dps.1 + 11 2161 c.2149G>C c.(2149-2151)GCA>CCA p.A717P CDH20_uc002lif.2_Missense_Mutation_p.A711P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 717 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TCAGACGTGCGCAGTGAACAG 0.662 8 22 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65179576 65179576 + Missense_Mutation SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr18:65179576T>G uc002lke.1 - 2 3524 c.2300A>C c.(2299-2301)AAG>ACG p.K767T NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 757 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TCTTACAGGCTTTACTATTGC 0.378 15 52 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74637290 74637290 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr18:74637290G>C uc002lmi.2 + 22 3999 c.3801G>C c.(3799-3801)AAG>AAC p.K1267N ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1267 C2H2-type 25. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTAGAAGAAAGACACACATGC 0.527 20 40 --- --- --- --- PASS PALM 5064 broad.mit.edu 37 19 746310 746310 + Silent SNP C T T rs150589646 by1000genomes TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:746310C>T uc002lpm.1 + 9 854 c.660C>T c.(658-660)GCC>GCT p.A220A PALM_uc002lpn.1_Silent_p.A176A|PALM_uc010xfu.1_Silent_p.A85A NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 220 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) ACGGCACCGCCGAGAACGGGA 0.647 6 36 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9060155 9060155 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:9060155G>T uc002mkp.2 - 3 27495 c.27291C>A c.(27289-27291)GAC>GAA p.D9097E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9099 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTTGAAGTGTCCAAGGTAA 0.483 27 40 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9076678 9076678 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:9076678C>A uc002mkp.2 - 3 10972 c.10768G>T c.(10768-10770)GAT>TAT p.D3590Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3591 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCCAGGAATCTGATGCAGCT 0.493 17 55 --- --- --- --- PASS S1PR2 9294 broad.mit.edu 37 19 10335434 10335434 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:10335434C>T uc002mnl.2 - 2 259 c.148G>A c.(148-150)GAA>AAA p.E50K NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 50 Helical; Name=1; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 AGAAGGTTTTCCACCACAATG 0.567 38 89 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10478977 10478977 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:10478977C>A uc002moc.3 - 4 689 c.311G>T c.(310-312)CGC>CTC p.R104L TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Missense_Mutation_p.R104L NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 104 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCACCTTATGCGGAAATATAG 0.552 34 68 --- --- --- --- PASS GIPC1 10755 broad.mit.edu 37 19 14589276 14589276 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:14589276G>A uc002myt.2 - 9 1224 c.954C>T c.(952-954)GTC>GTT p.V318V GIPC1_uc002myu.2_Silent_p.V318V|GIPC1_uc002myv.2_Silent_p.V221V|GIPC1_uc002myw.2_Silent_p.V221V|GIPC1_uc002myx.2_Silent_p.V318V|GIPC1_uc002myy.2_Silent_p.V221V NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 318 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 AGACGTCAAAGACGAACTCGT 0.657 5 6 --- --- --- --- PASS CYP4F11 57834 broad.mit.edu 37 19 16024572 16024572 + Silent SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:16024572C>A uc002nbu.2 - 13 1581 c.1545G>T c.(1543-1545)CGG>CGT p.R515R CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.R515R NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 515 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 GGGGCTCCACCCGCAGCCAAA 0.607 8 9 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17660297 17660297 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:17660297G>A uc010xpr.1 + 15 1942 c.1804G>A c.(1804-1806)GAC>AAC p.D602N FAM129C_uc010xpq.1_Missense_Mutation_p.D602N|FAM129C_uc002ngy.3_Missense_Mutation_p.D328N|FAM129C_uc010xpu.1_Intron|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.D292N NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 602 0 CTGCACTCTGGACGGCTGCTT 0.552 27 69 --- --- --- --- PASS ARRDC2 27106 broad.mit.edu 37 19 18120427 18120427 + Missense_Mutation SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:18120427G>C uc002nhv.2 + 4 659 c.516G>C c.(514-516)AAG>AAC p.K172N ARRDC2_uc002nhu.2_Missense_Mutation_p.K167N NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 172 pancreas(1) 1 CTCGGGAAAAGGTTGCCCGAT 0.582 14 40 --- --- --- --- PASS TMEM161A 54929 broad.mit.edu 37 19 19243311 19243311 + Missense_Mutation SNP C A A rs140905727 byFrequency TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:19243311C>A uc002nlg.2 - 5 323 c.293G>T c.(292-294)CGC>CTC p.R98L TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Intron|TMEM161A_uc002nli.2_Intron|TMEM161A_uc002nlj.2_5'UTR NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 98 Extracellular (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) CAGGAAGAAGCGCAGGACTGT 0.587 12 41 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936105 30936105 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:30936105C>G uc002nsu.1 + 2 1774 c.1636C>G c.(1636-1638)CGC>GGC p.R546G ZNF536_uc010edd.1_Missense_Mutation_p.R546G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCCGCTGCAGCGCAACCACGA 0.562 17 54 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35791178 35791178 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:35791178C>T uc002nyy.1 + 6 990 c.841C>T c.(841-843)CGG>TGG p.R281W MAG_uc002nyx.1_Missense_Mutation_p.R281W|MAG_uc010eds.1_Missense_Mutation_p.R256W|MAG_uc002nyz.1_Missense_Mutation_p.R281W NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 281 Ig-like C2-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GACAGTCCTCCGGGAGGCGGT 0.697 6 12 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38682891 38682891 + Missense_Mutation SNP G T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:38682891G>T uc002ohk.2 + 17 5046 c.4537G>T c.(4537-4539)GAC>TAC p.D1513Y NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1513 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CATCGAGGATGACCTGAAGAA 0.587 9 19 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41007885 41007885 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:41007885A>G uc002ony.2 + 8 928 c.842A>G c.(841-843)TAC>TGC p.Y281C SPTBN4_uc002onx.2_Missense_Mutation_p.Y281C|SPTBN4_uc002onz.2_Missense_Mutation_p.Y281C NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 281 Actin-binding.|CH 2. 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) GTCTCTTTCTACCACTATTTC 0.522 48 94 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44793161 44793161 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:44793161C>T uc002oza.3 - 5 530 c.427G>A c.(427-429)GTG>ATG p.V143M ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.V139M|ZNF235_uc010xwx.1_Missense_Mutation_p.V57M NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) CCTGCTCCCACTTGACAGGGG 0.428 26 64 --- --- --- --- PASS PVRL2 5819 broad.mit.edu 37 19 45368682 45368682 + Silent SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:45368682T>C uc002ozw.1 + 2 633 c.243T>C c.(241-243)AAT>AAC p.N81N PVRL2_uc002ozv.2_Silent_p.N81N NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 81 Ig-like V-type.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) ACCACCAGAATGTGGCCGCCT 0.647 9 22 --- --- --- --- PASS CLPTM1 1209 broad.mit.edu 37 19 45477734 45477734 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:45477734A>G uc002pai.2 + 4 363 c.348A>G c.(346-348)ACA>ACG p.T116T CLPTM1_uc010ejv.1_Silent_p.T14T|CLPTM1_uc010xxf.1_Silent_p.T14T|CLPTM1_uc010xxg.1_Silent_p.T102T NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 116 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGCACTTTACAGACTTCAACG 0.557 11 36 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47425108 47425108 + Missense_Mutation SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:47425108T>C uc010ekv.2 + 1 3176 c.3176T>C c.(3175-3177)TTA>TCA p.L1059S NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1059 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CTATCTTATTTAGACCAAGGC 0.458 9 16 --- --- --- --- PASS ZNF808 388558 broad.mit.edu 37 19 53057901 53057901 + Missense_Mutation SNP C G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:53057901C>G uc010epq.1 + 5 1909 c.1732C>G c.(1732-1734)CAA>GAA p.Q578E ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 578 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AGCTTTTAATCAACAATCACA 0.373 30 65 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55401172 55401172 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:55401172C>A uc002qhr.1 + 5 1004 c.807C>A c.(805-807)AGC>AGA p.S269R FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.S220R|FCAR_uc010esi.1_Missense_Mutation_p.S146R|FCAR_uc002qhu.1_Missense_Mutation_p.S173R|FCAR_uc002qhv.1_Missense_Mutation_p.S247R|FCAR_uc002qhw.1_Missense_Mutation_p.S257R|FCAR_uc002qhx.1_Missense_Mutation_p.S161R|FCAR_uc002qhy.1_Missense_Mutation_p.S235R|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.S160R NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 269 Cytoplasmic (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CGAGCTGGAGCCAACAGATGT 0.547 30 75 --- --- --- --- PASS DUXA 503835 broad.mit.edu 37 19 57678802 57678802 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr19:57678802C>A uc002qoa.1 - 1 55 c.10G>T c.(10-12)GAC>TAC p.D4Y NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) GAATAGGTGTCTTCGGCCATG 0.502 27 66 --- --- --- --- PASS NKX2-2 4821 broad.mit.edu 37 20 21492936 21492936 + Missense_Mutation SNP C A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr20:21492936C>A uc002wsi.2 - 2 804 c.447G>T c.(445-447)CAG>CAT p.Q149H NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 149 Homeobox. brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 GGTACCGCTGCTGCCGAAAGC 0.672 8 27 --- --- --- --- PASS PLAGL2 5326 broad.mit.edu 37 20 30784376 30784376 + Missense_Mutation SNP G T T rs142086831 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr20:30784376G>T uc002wxn.2 - 3 1587 c.1370C>A c.(1369-1371)CCT>CAT p.P457H NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 457 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGAATCTTGAGGCTGAGCTTG 0.622 6 19 --- --- --- --- PASS EMILIN3 90187 broad.mit.edu 37 20 39991677 39991677 + Silent SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr20:39991677G>A uc002xjy.1 - 4 756 c.532C>T c.(532-534)CTG>TTG p.L178L NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 178 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) TCACCAAACAGCCCTGGGCCT 0.597 5 5 --- --- --- --- PASS NPEPL1 79716 broad.mit.edu 37 20 57273764 57273764 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr20:57273764G>A uc010zzs.1 + 4 627 c.532G>A c.(532-534)GTG>ATG p.V178M NPEPL1_uc010zzr.1_Missense_Mutation_p.V130M|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.V150M|NPEPL1_uc002xzp.2_Missense_Mutation_p.V66M NM_024663 NP_078939 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 178 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity 0 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CACAGACGGCGTGCGGCTAGC 0.602 7 30 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10942991 10942991 + Missense_Mutation SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr21:10942991A>T uc002yip.1 - 12 964 c.596T>A c.(595-597)CTT>CAT p.L199H TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L181H|TPTE_uc002yir.1_Missense_Mutation_p.L161H|TPTE_uc010gkv.1_Missense_Mutation_p.L61H NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 199 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGAATAATAAGTCGTAGAAG 0.308 8 53 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22849615 22849615 + Missense_Mutation SNP G A A TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr21:22849615G>A uc002yld.1 + 15 2149 c.1900G>A c.(1900-1902)GAT>AAT p.D634N NCAM2_uc011acb.1_Missense_Mutation_p.D492N NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 634 Fibronectin type-III 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TTCACAGAAAGATAAGGAAGA 0.328 9 17 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30302818 30302818 + Silent SNP T C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr21:30302818T>C uc002ymr.2 - 30 5404 c.5391A>G c.(5389-5391)ACA>ACG p.T1797T NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1751 RING-type. ligase activity|zinc ion binding 0 TGTTGCTAGATGTAAACCATT 0.338 17 59 --- --- --- --- PASS ZNF74 7625 broad.mit.edu 37 22 20760468 20760468 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr22:20760468A>G uc010gsm.2 + 6 1357 c.1145A>G c.(1144-1146)CAC>CGC p.H382R ZNF74_uc002zsg.2_Missense_Mutation_p.H311R|ZNF74_uc002zsh.2_Missense_Mutation_p.H382R|ZNF74_uc002zsi.2_Missense_Mutation_p.H311R|ZNF74_uc010gsn.2_Missense_Mutation_p.H311R NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 382 C2H2-type 5. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CACCGCATCCACACGGGCGAG 0.657 10 34 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31835938 31835938 + Silent SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr22:31835938A>G uc003akz.1 - 19 3050 c.2886T>C c.(2884-2886)GAT>GAC p.D962D EIF4ENIF1_uc003akx.1_Silent_p.D617D|EIF4ENIF1_uc003aky.1_Silent_p.D642D|EIF4ENIF1_uc003ala.1_Silent_p.D962D|EIF4ENIF1_uc003alb.1_Silent_p.D788D|EIF4ENIF1_uc003akw.1_Silent_p.D452D NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 962 nucleus protein binding|protein transporter activity ovary(1) 1 GCTGTAGCACATCTGAGCCAA 0.602 9 51 --- --- --- --- PASS TNFRSF13C 115650 broad.mit.edu 37 22 42321458 42321458 + Silent SNP T G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr22:42321458T>G uc003bbl.2 - 3 512 c.468A>C c.(466-468)CCA>CCC p.P156P WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.P157P NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 156 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGTGGCCAGGTGGGGTGGTTC 0.637 5 46 --- --- --- --- PASS ARSF 416 broad.mit.edu 37 X 3030249 3030249 + Silent SNP G C C TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:3030249G>C uc004cre.1 + 11 1646 c.1425G>C c.(1423-1425)CCG>CCC p.P475P ARSF_uc004crf.1_Silent_p.P475P NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 475 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATGTGACCCCGGTATTCCAGC 0.363 20 10 --- --- --- --- PASS TLR8 51311 broad.mit.edu 37 X 12937337 12937337 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:12937337A>G uc004cve.2 + 2 246 c.178A>G c.(178-180)ACG>GCG p.T60A TLR8_uc004cvd.2_Missense_Mutation_p.T78A NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 60 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 AGTTCCCCAAACGGTGGGCAA 0.383 3 41 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31462724 31462724 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:31462724C>T uc004dda.1 - 60 9202 c.8958G>A c.(8956-8958)GCG>GCA p.A2986A DMD_uc004dcq.1_Silent_p.A257A|DMD_uc004dcr.1_Silent_p.A526A|DMD_uc004dcs.1_Silent_p.A526A|DMD_uc004dct.1_Silent_p.A526A|DMD_uc004dcu.1_Silent_p.A526A|DMD_uc004dcv.1_Silent_p.A526A|DMD_uc004dcw.2_Silent_p.A1642A|DMD_uc004dcx.2_Silent_p.A1645A|DMD_uc004dcz.2_Silent_p.A2863A|DMD_uc004dcy.1_Silent_p.A2982A|DMD_uc004ddb.1_Silent_p.A2978A NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2986 Spectrin 22. 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) CTTTCAGAGGCGCAATTTCTC 0.453 11 6 --- --- --- --- PASS MAOB 4129 broad.mit.edu 37 X 43702931 43702931 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:43702931C>T uc004dfz.3 - 2 302 c.126G>A c.(124-126)AGG>AGA p.R42R MAOB_uc011mkx.1_Silent_p.R26R|MAOB_uc011mky.1_Silent_p.R26R|MAOB_uc010nhj.2_Silent_p.R42R NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 42 Arg/Lys-rich (basic).|Cytoplasmic. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GAGTGTAAGTCCTGCCTCCCA 0.483 16 8 --- --- --- --- PASS PGAM4 441531 broad.mit.edu 37 X 77224608 77224608 + Silent SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:77224608C>T uc004ecy.1 - 1 528 c.528G>A c.(526-528)AAG>AAA p.K176K ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 176 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 GTTTCCCCTCCTTGATCTGGG 0.522 33 12 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77301842 77301842 + Missense_Mutation SNP A G G TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:77301842A>G uc004ecx.3 + 23 4438 c.4278A>G c.(4276-4278)ATA>ATG p.I1426M NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1426 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 GGAGCCAGATAGGACAGAAGA 0.403 57 27 --- --- --- --- PASS PABPC5 140886 broad.mit.edu 37 X 90691561 90691561 + Missense_Mutation SNP A T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:90691561A>T uc004efg.2 + 2 1425 c.985A>T c.(985-987)AGT>TGT p.S329C PABPC5_uc004eff.1_Missense_Mutation_p.S165C NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 329 RRM 4. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TGGGTCAATTAGTCGGGCCAA 0.443 20 10 --- --- --- --- PASS ZDHHC9 51114 broad.mit.edu 37 X 128957694 128957694 + Missense_Mutation SNP G A A rs137852215 TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:128957694G>A uc004euv.2 - 4 817 c.448C>T c.(448-450)CCC>TCC p.P150S ZDHHC9_uc004euw.2_Missense_Mutation_p.P150S|ZDHHC9_uc004eux.1_Missense_Mutation_p.P150S|ZDHHC9_uc004euy.1_Missense_Mutation_p.P77S NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 150 Cytoplasmic (Potential).|DHHC-type. P -> S (in MRXSZ). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 GAGGCCCGGGGAGGCCGGAAG 0.507 33 27 --- --- --- --- PASS GABRA3 2556 broad.mit.edu 37 X 151336921 151336921 + Missense_Mutation SNP C T T TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chrX:151336921C>T uc010ntk.1 - 10 1498 c.1258G>A c.(1258-1260)GCT>ACT p.A420T NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 420 Cytoplasmic (Probable). 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 p.A420T(1) 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) CTGGGAGCAGCGCCCTTGGAG 0.552 64 31 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098935 178098937 + In_Frame_Del DEL AAT - - TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr2:178098935_178098937delAAT uc002ulh.3 - 2 663_665 c.108_110delATT c.(106-111)GTATTT>GTT p.F37del NFE2L2_uc002ulg.3_In_Frame_Del_p.F21del|NFE2L2_uc010zfa.1_In_Frame_Del_p.F21del|NFE2L2_uc002uli.3_In_Frame_Del_p.F21del|NFE2L2_uc010fra.2_In_Frame_Del_p.F21del|NFE2L2_uc010frb.2_In_Frame_Del_p.F21del NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 37 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTGAAGTCAAATACTTCTCGAC 0.384 Mis NSCLC|HNSCC HNSCC(56;0.16) 32 24 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA - - rs11969612 by1000genomes TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:16327913_16327915delTGA uc003nbt.2 - 8 1598_1600 c.627_629delTCA c.(625-630)CATCAG>CAG p.H209del ATXN1_uc010jpi.2_In_Frame_Del_p.H209del|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 209 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgatgctgatgctgctgct 0.379 4 11 --- --- --- --- HIST1H2BH 8345 broad.mit.edu 37 6 26252236 26252236 + Frame_Shift_Del DEL A - - TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr6:26252236delA uc003nhh.2 + 1 358 c.358delA c.(358-360)ACCfs p.T120fs HIST1H3F_uc003nhg.1_5'Flank NM_003524 NP_003515 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 120 nucleosome assembly nucleosome|nucleus DNA binding ovary(3) 3 TAAGGCCGTCACCAAGTACAC 0.537 33 37 --- --- --- --- NR4A3 8013 broad.mit.edu 37 9 102591156 102591156 + Frame_Shift_Del DEL C - - TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr9:102591156delC uc004baf.1 + 3 1561 c.832delC c.(832-834)CCGfs p.P278fs NR4A3_uc004bae.2_Frame_Shift_Del_p.P278fs|NR4A3_uc004bag.1_Frame_Shift_Del_p.P278fs|NR4A3_uc004bai.2_Frame_Shift_Del_p.P289fs NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 278 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TCCCAGCCTGCCGTCGCCGCC 0.746 T EWSR1 extraskeletal myxoid chondrosarcoma 4 3 --- --- --- --- OR51B2 79345 broad.mit.edu 37 11 5344882 5344882 + Frame_Shift_Del DEL A - - TCGA-22-5482-01A-01D-1632-08 TCGA-22-5482-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx b57c316e-1cae-4286-bdbb-8b65c020b3fa 8de8fa4e-9c5a-405b-8ea9-f47a4e5f05ec g.chr11:5344882delA uc001mao.1 - 1 701 c.646delT c.(646-648)TATfs p.Y216fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 216 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTAGAATATAGGAGAAGAGG 0.383 15 22 --- --- --- ---