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 ATAD3A 55210 broad.mit.edu 37 1 1454326 1454326 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:1454326G>A uc001afz.1 + 5 708 c.614G>A c.(613-615)CGG>CAG p.R205Q ATAD3A_uc001aga.1_Missense_Mutation_p.R157Q|ATAD3A_uc001agb.1_Missense_Mutation_p.R78Q NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 205 Potential. ATP binding|nucleoside-triphosphatase activity|protein binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) GAGAATTTACGGAAGCAGGAG 0.572 10 69 --- --- --- --- PASS TRIM63 84676 broad.mit.edu 37 1 26386826 26386826 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:26386826C>T uc001bli.1 - 4 664 c.528G>A c.(526-528)ATG>ATA p.M176I NM_032588 NP_115977 Q969Q1 TRI63_HUMAN muscle specific ring finger protein 1 176 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCGCCACCAGCATGGAGATAC 0.572 7 35 --- --- --- --- PASS PHACTR4 65979 broad.mit.edu 37 1 28800600 28800600 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:28800600C>A uc001bpw.2 + 7 1640 c.1358C>A c.(1357-1359)TCT>TAT p.S453Y PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S437Y|PHACTR4_uc001bpy.2_Missense_Mutation_p.S463Y NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 453 actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GACAGCTTTTCTGAGGACAGC 0.478 16 94 --- --- --- --- PASS PHC2 1912 broad.mit.edu 37 1 33836642 33836642 + Silent SNP C A A rs150111238 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:33836642C>A uc001bxg.1 - 3 441 c.387G>T c.(385-387)GCG>GCT p.A129A PHC2_uc001bxh.1_Silent_p.A129A|PHC2_uc009vuh.1_Silent_p.A129A|PHC2_uc001bxi.1_Silent_p.A129A NM_198040 NP_932157 Q8IXK0 PHC2_HUMAN polyhomeotic-like 2 isoform a 129 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCGGGGCCTGCGCAGACACAT 0.567 4 76 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34066583 34066583 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:34066583C>T uc001bxn.1 - 45 6773 c.6744G>A c.(6742-6744)CGG>CGA p.R2248R CSMD2_uc001bxm.1_Silent_p.R2246R|CSMD2_uc001bxo.1_Silent_p.R1119R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2248 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGACGCCGAGCCGTGGTGCTG 0.577 15 58 --- --- --- --- PASS MFSD2A 84879 broad.mit.edu 37 1 40434012 40434012 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:40434012G>T uc001cev.2 + 12 1435 c.1254G>T c.(1252-1254)ATG>ATT p.M418I MFSD2A_uc010ojb.1_Missense_Mutation_p.M366I|MFSD2A_uc001ceu.2_Missense_Mutation_p.M405I|MFSD2A_uc010ojc.1_Missense_Mutation_p.M249I|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Missense_Mutation_p.M69I NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 418 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 GCAGGTCCATGCTGCCTGATG 0.527 11 21 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70446129 70446129 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:70446129T>C uc001dep.2 + 7 695 c.665T>C c.(664-666)TTA>TCA p.L222S LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 222 LRR 9. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTACAAGTGTTACCTGGGGTA 0.343 12 69 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038518 75038518 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:75038518A>G uc001dgg.2 - 14 3095 c.2876T>C c.(2875-2877)ATG>ACG p.M959T NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 959 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TGTGTCCTCCATGGGTCCTGT 0.527 9 40 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75693501 75693501 + Missense_Mutation SNP G T T rs149696907 byFrequency TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:75693501G>T uc001dgu.2 - 13 1039 c.895C>A c.(895-897)CGC>AGC p.R299S SLC44A5_uc001dgt.2_Missense_Mutation_p.R299S|SLC44A5_uc001dgs.2_Missense_Mutation_p.R257S|SLC44A5_uc001dgr.2_Missense_Mutation_p.R257S|SLC44A5_uc010oqz.1_Missense_Mutation_p.R338S|SLC44A5_uc010ora.1_Missense_Mutation_p.R293S|SLC44A5_uc010orb.1_Missense_Mutation_p.R169S NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 299 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 GAACTTGGGCGTTCCTGAAGA 0.338 5 29 --- --- --- --- PASS EPHX4 253152 broad.mit.edu 37 1 92528792 92528792 + Silent SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:92528792G>C uc001don.2 + 7 1142 c.1038G>C c.(1036-1038)GTG>GTC p.V346V NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 346 integral to membrane hydrolase activity central_nervous_system(1) 1 CTGACATAGTGAACAAATTGA 0.318 6 45 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111862916 111862916 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:111862916C>A uc001eas.2 + 12 1362 c.1259C>A c.(1258-1260)TCT>TAT p.S420Y CHIA_uc001ear.2_Missense_Mutation_p.S312Y|CHIA_uc001eaq.2_Missense_Mutation_p.S312Y|CHIA_uc009wgc.2_Missense_Mutation_p.S312Y|CHIA_uc001eat.2_Missense_Mutation_p.S259Y|CHIA_uc001eav.2_Missense_Mutation_p.S259Y|CHIA_uc001eau.2_Missense_Mutation_p.S259Y|CHIA_uc009wgd.2_Missense_Mutation_p.S259Y NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 420 Poly-Ser. apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) AGTAGCAGCTCTGGAGGCAGC 0.577 7 34 --- --- --- --- PASS CASQ1 844 broad.mit.edu 37 1 160165289 160165289 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:160165289C>A uc010pja.1 + 5 873 c.616C>A c.(616-618)CCC>ACC p.P206T NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 206 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAGTTTCATCCCTACATCCC 0.562 21 22 --- --- --- --- PASS TOMM40L 84134 broad.mit.edu 37 1 161197498 161197498 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:161197498G>A uc001fzd.2 + 5 578 c.349G>A c.(349-351)GAG>AAG p.E117K TOMM40L_uc010pkk.1_RNA|TOMM40L_uc010pkl.1_Intron|TOMM40L_uc009wue.2_Intron|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.E117K NM_032174 NP_115550 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 117 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCTCTTGGCAGAGCGGCTCCG 0.587 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 21 --- --- --- --- PASS C1orf192 257177 broad.mit.edu 37 1 161336064 161336064 + Missense_Mutation SNP A T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:161336064A>T uc001gal.2 - 3 101 c.95T>A c.(94-96)ATC>AAC p.I32N NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN hypothetical protein LOC257177 32 0 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) ATGAGAAGAGATGCTCTGGGG 0.463 17 20 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175325554 175325554 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:175325554G>A uc001gkp.1 - 14 3100 c.3019C>T c.(3019-3021)CGG>TGG p.R1007W TNR_uc009wwu.1_Missense_Mutation_p.R1007W NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1007 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCAACAAGCCGAAATTCCTCA 0.473 24 40 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215933143 215933143 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:215933143G>T uc001hku.1 - 57 11477 c.11090C>A c.(11089-11091)ACA>AAA p.T3697K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3697 Fibronectin type-III 22.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TAATTCCACTGTTGTAGAATT 0.403 HNSCC(13;0.011) 26 62 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222732082 222732082 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:222732082C>A uc009xdz.1 - 11 1462 c.1273G>T c.(1273-1275)GAT>TAT p.D425Y TAF1A_uc009xdy.1_Missense_Mutation_p.D116Y|TAF1A_uc001hni.1_Missense_Mutation_p.D311Y|TAF1A_uc001hnj.2_Missense_Mutation_p.D425Y|TAF1A_uc001hnk.2_Missense_Mutation_p.D311Y NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 425 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) ATTTGGTGATCTTGCTTTAAA 0.269 15 52 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237801776 237801776 + Missense_Mutation SNP T A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:237801776T>A uc001hyl.1 + 45 7032 c.6912T>A c.(6910-6912)TTT>TTA p.F2304L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2304 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCTTAGATTTGCTGTCTTCT 0.403 30 184 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737347 248737347 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:248737347C>T uc001iep.1 - 1 712 c.712G>A c.(712-714)GGC>AGC p.G238S NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCCTGCGGCCGGCGGCAGAA 0.562 53 85 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1926881 1926881 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:1926881C>A uc002qxe.2 - 10 1487 c.660G>T c.(658-660)AGG>AGT p.R220S MYT1L_uc002qxd.2_Missense_Mutation_p.R220S|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 220 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGACTCAGTCCTGGCCCGGT 0.433 15 41 --- --- --- --- PASS ROCK2 9475 broad.mit.edu 37 2 11341532 11341532 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:11341532T>C uc002rbd.1 - 22 3076 c.2627A>G c.(2626-2628)TAT>TGT p.Y876C NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 876 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTGTGTTTTATAAAGGGTCTA 0.333 10 23 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21236225 21236225 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:21236225G>T uc002red.2 - 25 4151 c.4023C>A c.(4021-4023)ACC>ACA p.T1341T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1341 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACTTGGGAATGGTAAAAGTAG 0.488 27 68 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39285891 39285891 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:39285891C>T uc002rrk.3 - 3 309 c.268G>A c.(268-270)GCC>ACC p.A90T SOS1_uc010ynr.1_RNA NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 90 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GCTGATTGGGCATCAGCTATT 0.338 Noonan_syndrome 24 61 --- --- --- --- PASS C2orf63 130162 broad.mit.edu 37 2 55436584 55436584 + Missense_Mutation SNP A C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:55436584A>C uc002ryi.2 - 7 1116 c.770T>G c.(769-771)TTT>TGT p.F257C C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.F135C NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 257 binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) AAAGTCTTGAAATGGGCTGCT 0.313 28 76 --- --- --- --- PASS UGP2 7360 broad.mit.edu 37 2 64112824 64112824 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:64112824T>C uc002scm.2 + 6 983 c.677T>C c.(676-678)ATT>ACT p.I226T UGP2_uc002scl.2_Missense_Mutation_p.I215T|UGP2_uc010ypx.1_Missense_Mutation_p.I235T NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 226 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 CATGGTGATATTTACGCCAGT 0.408 23 166 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71891467 71891467 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:71891467C>T uc002sie.2 + 45 5332 c.4956C>T c.(4954-4956)CTC>CTT p.L1652L DYSF_uc010feg.2_Silent_p.L1683L|DYSF_uc010feh.2_Silent_p.L1659L|DYSF_uc002sig.3_Silent_p.L1638L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L1673L|DYSF_uc010fef.2_Silent_p.L1690L|DYSF_uc010fei.2_Silent_p.L1669L|DYSF_uc010fek.2_Silent_p.L1670L|DYSF_uc010fej.2_Silent_p.L1660L|DYSF_uc010fel.2_Silent_p.L1639L|DYSF_uc010feo.2_Silent_p.L1684L|DYSF_uc010fem.2_Silent_p.L1674L|DYSF_uc010fen.2_Silent_p.L1691L|DYSF_uc002sif.2_Silent_p.L1653L|DYSF_uc010yqy.1_Silent_p.L533L|DYSF_uc010yqz.1_Silent_p.L413L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1652 Cytoplasmic (Potential).|C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ACTATGACCTCCTCTCCAAGG 0.562 12 48 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88367391 88367391 + Missense_Mutation SNP T G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:88367391T>G uc002ssr.2 + 1 10 c.8T>G c.(7-9)ATA>AGA p.I3R SMYD1_uc002ssq.1_5'UTR NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GAGATGACAATAGGGAGAATG 0.512 29 105 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125530522 125530522 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:125530522C>T uc002tno.2 + 17 3041 c.2677C>T c.(2677-2679)CTT>TTT p.L893F CNTNAP5_uc010flu.2_Missense_Mutation_p.L894F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 893 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GGTGGACAACCTTCCAAGGAG 0.537 33 88 --- --- --- --- PASS UGGT1 56886 broad.mit.edu 37 2 128922352 128922352 + Silent SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:128922352A>G uc002tps.2 + 26 3052 c.2874A>G c.(2872-2874)CCA>CCG p.P958P UGGT1_uc010fme.1_Silent_p.P833P|UGGT1_uc002tpr.2_Silent_p.P934P NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 958 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 CAGCGCAACCAAAAGGAGATC 0.368 14 35 --- --- --- --- PASS RAB3GAP1 22930 broad.mit.edu 37 2 135911411 135911411 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:135911411A>G uc002tuj.2 + 19 2279 c.2254A>G c.(2254-2256)AGG>GGG p.R752G RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R752G|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R577G|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 752 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TAGAAGGCAAAGGAGACTCTT 0.428 19 41 --- --- --- --- PASS RBM45 129831 broad.mit.edu 37 2 178988582 178988582 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:178988582G>C uc002ulv.2 + 7 1103 c.1011G>C c.(1009-1011)ATG>ATC p.M337I NM_152945 NP_694453 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 339 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CAACACAGATGGTAGCTGCAC 0.323 19 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179446770 179446770 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:179446770G>T uc010zfg.1 - 264 58846 c.58622C>A c.(58621-58623)CCT>CAT p.P19541H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13236H|TTN_uc010zfi.1_Missense_Mutation_p.P13169H|TTN_uc010zfj.1_Missense_Mutation_p.P13044H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20468 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTATAATAGGTTTTCTGTT 0.448 33 151 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179446771 179446771 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:179446771G>T uc010zfg.1 - 264 58845 c.58621C>A c.(58621-58623)CCT>ACT p.P19541T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P13236T|TTN_uc010zfi.1_Missense_Mutation_p.P13169T|TTN_uc010zfj.1_Missense_Mutation_p.P13044T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20468 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTATAATAGGTTTTCTGTTG 0.453 34 157 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179596203 179596203 + Silent SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:179596203G>A uc010zfg.1 - 56 13782 c.13558C>T c.(13558-13560)CTA>TTA p.L4520L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L1181L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5447 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCTTTTAGCCAAGTCACC 0.478 8 42 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210561312 210561312 + Silent SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr2:210561312A>G uc002vde.1 + 8 4475 c.4227A>G c.(4225-4227)AAA>AAG p.K1409K MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.K1405K NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1409 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTATTCCTAAAGAGGAGAAAG 0.383 16 56 --- --- --- --- PASS KAT2B 8850 broad.mit.edu 37 3 20142869 20142869 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:20142869C>T uc003cbq.2 + 5 1206 c.760C>T c.(760-762)CGC>TGC p.R254C NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 254 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTCCTAAACCGCATCAACTA 0.398 8 45 --- --- --- --- PASS CRYBG3 131544 broad.mit.edu 37 3 97596183 97596183 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:97596183G>T uc003drx.2 + 1 365 c.301G>T c.(301-303)GTC>TTC p.V101F NM_153605 NP_705833 beta-gamma crystallin domain containing 3 0 AACTGACCTTGTCCATCACTT 0.413 18 57 --- --- --- --- PASS CD47 961 broad.mit.edu 37 3 107776416 107776416 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:107776416G>A uc003dwt.1 - 7 965 c.785C>T c.(784-786)GCG>GTG p.A262V CD47_uc003dwu.1_Missense_Mutation_p.A262V|CD47_uc003dwv.1_Missense_Mutation_p.A262V|CD47_uc003dww.1_Missense_Mutation_p.A262V NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 262 Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) TGGTATACACGCTGTAAAAAC 0.313 16 24 --- --- --- --- PASS TRH 7200 broad.mit.edu 37 3 129695813 129695813 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:129695813C>A uc003enc.2 + 3 1044 c.483C>A c.(481-483)CCC>CCA p.P161P NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 161 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 TGGCAGATCCCAAGGCTCAAA 0.522 12 38 --- --- --- --- PASS ACAD11 84129 broad.mit.edu 37 3 132363689 132363689 + Silent SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:132363689A>G uc003eov.3 - 2 581 c.201T>C c.(199-201)TAT>TAC p.Y67Y NPHP3_uc003eoz.1_Silent_p.Y226Y|ACAD11_uc003eoy.2_Silent_p.Y67Y NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 67 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 TCCTGAGCACATATGTTTGAA 0.328 25 59 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133109124 133109124 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:133109124C>T uc003eph.2 + 5 1825 c.1551C>T c.(1549-1551)TTC>TTT p.F517F TMEM108_uc003epi.2_Silent_p.F517F|TMEM108_uc003epk.2_Silent_p.F47F|TMEM108_uc003epm.2_Silent_p.F468F NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 517 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(2) 4 TGGACTACTTCAACAGGCATG 0.552 33 220 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134851865 134851865 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:134851865C>T uc003eqt.2 + 5 1491 c.1271C>T c.(1270-1272)TCT>TTT p.S424F EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 424 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CAGCACGTCTCTGTCAACATC 0.572 6 9 --- --- --- --- PASS MRAS 22808 broad.mit.edu 37 3 138091773 138091773 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:138091773G>T uc003esh.3 + 2 609 c.48G>T c.(46-48)CTG>CTT p.L16L MRAS_uc011bmi.1_Intron|MRAS_uc003esi.3_Silent_p.L16L|MRAS_uc011bmj.1_Intron NM_012219 NP_036351 O14807 RASM_HUMAN muscle RAS oncogene homolog precursor 16 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CATACAAGCTGGTGGTGGTGG 0.557 26 76 --- --- --- --- PASS ARL14 80117 broad.mit.edu 37 3 160395290 160395290 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:160395290C>T uc003fdq.2 + 1 343 c.156C>T c.(154-156)ATC>ATT p.I52I NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 52 small GTPase mediated signal transduction intracellular GTP binding 0 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TGGAAATGATCGAGTTGGAAA 0.438 22 102 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182897372 182897372 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:182897372C>T uc003fli.1 - 29 3304 c.3214G>A c.(3214-3216)GAG>AAG p.E1072K NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1072 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CACGTTTCCTCCTCATCGCGT 0.557 32 889 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 182897440 182897440 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:182897440C>T uc003fli.1 - 29 3236 c.3146G>A c.(3145-3147)TGT>TAT p.C1049Y NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1049 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTTGGAGGAACAGGTTTCGTG 0.567 29 870 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184005696 184005696 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:184005696C>T uc003fni.3 + 11 1727 c.1689C>T c.(1687-1689)CTC>CTT p.L563L ECE2_uc011brh.1_Silent_p.L416L|ECE2_uc003fnl.3_Silent_p.L491L|ECE2_uc003fnm.3_Silent_p.L445L|ECE2_uc003fnk.3_Silent_p.L416L|ECE2_uc011bri.1_Silent_p.L478L|ECE2_uc010hxv.2_Silent_p.L207L NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 563 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGGGTCCCTCTTCGTGAAGG 0.498 458 52 --- --- --- --- PASS ADIPOQ 9370 broad.mit.edu 37 3 186572371 186572371 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:186572371C>A uc003fra.2 + 3 697 c.613C>A c.(613-615)CTG>ATG p.L205M ADIPOQ_uc010hyy.2_Missense_Mutation_p.L205M NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 205 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GCTCCTGCATCTGGAGGTGGG 0.517 22 85 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196387871 196387871 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr3:196387871C>T uc003fwv.2 + 3 1461 c.1357C>T c.(1357-1359)CCT>TCT p.P453S NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 453 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) GGTGGGCCCCCCTAGCTGTGT 0.572 35 122 --- --- --- --- PASS OTUD4 54726 broad.mit.edu 37 4 146064527 146064527 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr4:146064527G>A uc003ika.3 - 17 1616 c.1478C>T c.(1477-1479)CCT>CTT p.P493L OTUD4_uc003ijz.3_Missense_Mutation_p.P492L NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 557 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) TTGTTCCGCAGGAGAAGGGCA 0.358 4 29 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151509335 151509335 + Silent SNP A C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr4:151509335A>C uc010ipj.2 - 41 6702 c.6228T>G c.(6226-6228)GGT>GGG p.G2076G LRBA_uc003ilt.3_Silent_p.G724G|LRBA_uc003ilu.3_Silent_p.G2065G NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2076 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GGCTAACAGGACCTGCCAAAA 0.433 5 23 --- --- --- --- PASS LRP2BP 55805 broad.mit.edu 37 4 186294028 186294028 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr4:186294028C>A uc003ixj.1 - 6 1597 c.785G>T c.(784-786)TGT>TTT p.C262F LRP2BP_uc003ixk.1_Missense_Mutation_p.C236F|LRP2BP_uc011ckr.1_Missense_Mutation_p.C262F NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN LRP2 binding protein 262 Sel1-like 5. cytoplasm protein binding 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) AAATGCAACACACTTTGTAAA 0.259 29 42 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1416275 1416275 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:1416275G>T uc003jck.2 - 7 1090 c.969C>A c.(967-969)GGC>GGA p.G323G NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 323 Helical; Name=6; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CGAACCCCACGCCCAGGGAGA 0.622 7 33 --- --- --- --- PASS CMBL 134147 broad.mit.edu 37 5 10290841 10290841 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:10290841T>C uc003jes.2 - 2 485 c.34A>G c.(34-36)ATT>GTT p.I12V NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 12 cytosol hydrolase activity|protein binding skin(1) 1 CTGTGGCCAATGTCACACGGA 0.468 25 77 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32090630 32090630 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:32090630C>T uc003jhl.2 + 20 7464 c.7076C>T c.(7075-7077)CCA>CTA p.P2359L PDZD2_uc003jhm.2_Missense_Mutation_p.P2359L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2359 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GGGGCTTCCCCATTTTTGTCG 0.577 6 44 --- --- --- --- PASS GDNF 2668 broad.mit.edu 37 5 37816091 37816091 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:37816091G>T uc011cpi.1 - 3 498 c.298C>A c.(298-300)CCA>ACA p.P100T GDNF_uc011cpc.1_Missense_Mutation_p.P22T|GDNF_uc011cpd.1_Missense_Mutation_p.P48T|GDNF_uc011cpe.1_Missense_Mutation_p.P74T|GDNF_uc011cpf.1_Missense_Mutation_p.P74T|GDNF_uc011cpg.1_Missense_Mutation_p.P117T|GDNF_uc011cph.1_Missense_Mutation_p.P91T NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 100 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) GAATTCTCTGGGTTGGCAGCT 0.478 21 74 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38352408 38352408 + Nonsense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:38352408C>T uc003jlc.1 + 5 844 c.520C>T c.(520-522)CAG>TAG p.Q174* EGFLAM_uc003jlb.1_Nonsense_Mutation_p.Q174* NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 174 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CGCCCCTATTCAGTACTATTC 0.403 13 90 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40981635 40981635 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:40981635C>A uc003jmh.2 + 18 2606 c.2492C>A c.(2491-2493)TCT>TAT p.S831Y NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 831 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CAGAGCATCTCTGTCACCAGC 0.572 3 9 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82868261 82868261 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:82868261G>T uc003kii.3 + 13 10118 c.9762G>T c.(9760-9762)CAG>CAT p.Q3254H VCAN_uc003kij.3_Missense_Mutation_p.Q2267H|VCAN_uc010jau.2_Missense_Mutation_p.Q1500H|VCAN_uc003kik.3_Missense_Mutation_p.Q513H|VCAN_uc003kil.3_Missense_Mutation_p.Q1918H NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3254 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACCCAACCAGCCAGACAGCT 0.423 29 60 --- --- --- --- PASS CDC23 8697 broad.mit.edu 37 5 137524751 137524751 + Silent SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:137524751G>C uc003lcl.2 - 16 1741 c.1710C>G c.(1708-1710)CCC>CCG p.P570P NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 570 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GTAGGAAAAAGGGAGCAGGCA 0.527 6 22 --- --- --- --- PASS GRPEL2 134266 broad.mit.edu 37 5 148730726 148730726 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:148730726G>T uc003lqj.2 + 4 685 c.559G>T c.(559-561)GGT>TGT p.G187C GRPEL2_uc011dca.1_3'UTR NM_152407 NP_689620 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial precursor 187 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCCAGCTGGTGTTGGGGT 0.527 23 62 --- --- --- --- PASS MYOZ3 91977 broad.mit.edu 37 5 150042512 150042512 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:150042512C>A uc003lss.2 + 2 596 c.9C>A c.(7-9)CCC>CCA p.P3P MYOZ3_uc003lsr.2_Silent_p.P3P NM_001122853 NP_001116325 Q8TDC0 MYOZ3_HUMAN myozenin 3 3 sarcomere protein binding skin(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATGATCCCCAAGGAGCAGA 0.572 14 19 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150885463 150885463 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:150885463G>C uc003lue.3 - 23 12726 c.12713C>G c.(12712-12714)CCT>CGT p.P4238R GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P845R NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 4238 Cytoplasmic (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTGGGAGAGGTGCCCGCTT 0.627 30 97 --- --- --- --- PASS PROP1 5626 broad.mit.edu 37 5 177422884 177422884 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:177422884G>T uc003mif.1 - 1 360 c.51C>A c.(49-51)GTC>GTA p.V17V NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 17 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTTGCTGCCGACTCGCCCCT 0.632 9 24 --- --- --- --- PASS MAML1 9794 broad.mit.edu 37 5 179193310 179193310 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:179193310G>T uc003mkm.2 + 2 1562 c.1299G>T c.(1297-1299)ACG>ACT p.T433T MAML1_uc003mkn.1_Silent_p.T433T NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 433 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCAGCAGACGGGGCCCTCCC 0.602 21 61 --- --- --- --- PASS MAML1 9794 broad.mit.edu 37 5 179193311 179193311 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:179193311G>T uc003mkm.2 + 2 1563 c.1300G>T c.(1300-1302)GGG>TGG p.G434W MAML1_uc003mkn.1_Missense_Mutation_p.G434W NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 434 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCAGACGGGGCCCTCCCA 0.602 21 62 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180432609 180432609 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr5:180432609C>A uc003mmr.2 + 8 1266 c.1138C>A c.(1138-1140)CTC>ATC p.L380I BTNL3_uc010jlp.2_Missense_Mutation_p.L165I NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 380 B30.2/SPRY.|Cytoplasmic (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GTATTGGGTCCTCAGACTGAC 0.502 8 33 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47846462 47846462 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:47846462C>A uc011dwm.1 - 3 2152 c.2067G>T c.(2065-2067)TGG>TGT p.W689C C6orf138_uc011dwn.1_Missense_Mutation_p.W453C NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 706 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TGTCGACGTTCCATAATGTCA 0.438 8 25 --- --- --- --- PASS TRAM2 9697 broad.mit.edu 37 6 52370454 52370454 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:52370454C>T uc003paq.2 - 9 967 c.818G>A c.(817-819)CGC>CAC p.R273H EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA NM_012288 NP_036420 Q15035 TRAM2_HUMAN translocation-associated membrane protein 2 273 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding 0 Lung NSC(77;0.109) GTTTTCCATGCGAGCCAGTCC 0.552 17 63 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512544 57512544 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:57512544G>C uc003pdx.2 + 15 1459 c.1372G>C c.(1372-1374)GGT>CGT p.G458R NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 458 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCTAAATGGTGGTAAAGACAT 0.388 13 147 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66044997 66044997 + Nonsense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:66044997G>A uc011dxu.1 - 11 2180 c.1642C>T c.(1642-1644)CAG>TAG p.Q548* EYS_uc003peq.2_Nonsense_Mutation_p.Q548*|EYS_uc003per.1_Nonsense_Mutation_p.Q548* NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 548 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CGATATTCCTGACTGTCTTCT 0.358 10 43 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66115197 66115197 + Missense_Mutation SNP C A A rs139115734 by1000genomes TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:66115197C>A uc011dxu.1 - 6 1464 c.926G>T c.(925-927)TGC>TTC p.C309F EYS_uc003peq.2_Missense_Mutation_p.C309F|EYS_uc003per.1_Missense_Mutation_p.C309F NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 309 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 GCTATTTGGGCAAATTCCTCT 0.373 13 132 --- --- --- --- PASS TTK 7272 broad.mit.edu 37 6 80745093 80745093 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:80745093G>T uc003pjc.2 + 16 1957 c.1883G>T c.(1882-1884)TGG>TTG p.W628L TTK_uc003pjb.3_Missense_Mutation_p.W627L NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 628 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AAGAGTTACTGGAAAAATATG 0.318 15 49 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136596829 136596829 + Missense_Mutation SNP A C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:136596829A>C uc003qgx.1 - 6 1946 c.1693T>G c.(1693-1695)TTG>GTG p.L565V BCLAF1_uc003qgw.1_Missense_Mutation_p.L392V|BCLAF1_uc003qgy.1_Missense_Mutation_p.L563V|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.L563V NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 565 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTTAGTCAAGGAAGCAGGT 0.378 5 115 --- --- --- --- PASS TCP1 6950 broad.mit.edu 37 6 160200659 160200659 + Nonsense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:160200659C>T uc003qsr.2 - 11 1689 c.1454G>A c.(1453-1455)TGG>TAG p.W485* TCP1_uc003qss.2_Nonsense_Mutation_p.W330*|TCP1_uc010kjz.2_Intron|TCP1_uc003qst.2_Nonsense_Mutation_p.W261* NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 485 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CCATGCTTACCATTTTAGATT 0.403 14 113 --- --- --- --- PASS RPS6KA2 6196 broad.mit.edu 37 6 166918101 166918101 + Splice_Site SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr6:166918101C>A uc003qvb.1 - 6 679 c.460_splice c.e6-1 p.V154_splice RPS6KA2_uc011ego.1_Splice_Site_p.V65_splice|RPS6KA2_uc010kkl.1_Splice_Site_p.V65_splice|RPS6KA2_uc003qvc.1_Splice_Site_p.V162_splice|RPS6KA2_uc003qvd.1_Splice_Site_p.V179_splice NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TGAACATGACCTAGTAAGAAa 0.423 6 45 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50605613 50605613 + Missense_Mutation SNP T G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:50605613T>G uc003tpf.3 - 4 466 c.380A>C c.(379-381)GAA>GCA p.E127A DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.E127A NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 127 2.|2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CTTTGGTAGTTCCAGCATCTT 0.567 13 18 --- --- --- --- PASS DDC 1644 broad.mit.edu 37 7 50605614 50605614 + Nonsense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:50605614C>A uc003tpf.3 - 4 465 c.379G>T c.(379-381)GAA>TAA p.E127* DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Nonsense_Mutation_p.E127* NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 127 2.|2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TTTGGTAGTTCCAGCATCTTC 0.567 12 20 --- --- --- --- PASS TBL2 26608 broad.mit.edu 37 7 72985559 72985559 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:72985559C>T uc003tyh.2 - 6 972 c.838G>A c.(838-840)GCG>ACG p.A280T TBL2_uc011kex.1_Missense_Mutation_p.A244T|TBL2_uc010lbg.2_Missense_Mutation_p.A185T|TBL2_uc003tyi.2_Missense_Mutation_p.A115T|TBL2_uc011key.1_Missense_Mutation_p.A151T|TBL2_uc010lbh.2_Missense_Mutation_p.A185T NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 280 WD 5. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) TGCACAGCCGCGGAGTGGCCC 0.567 11 22 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965880 88965880 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:88965880T>C uc011khi.1 + 4 4122 c.3584T>C c.(3583-3585)GTA>GCA p.V1195A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1195 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GCCTCAACCGTACAGACAGTT 0.507 HNSCC(36;0.09) 19 48 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91714871 91714871 + Silent SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:91714871T>C uc003ulg.2 + 36 9120 c.8895T>C c.(8893-8895)TAT>TAC p.Y2965Y AKAP9_uc003ulf.2_Silent_p.Y2957Y|AKAP9_uc003uli.2_Silent_p.Y2588Y|AKAP9_uc003ulj.2_Silent_p.Y735Y|AKAP9_uc003ulk.2_Silent_p.Y240Y NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2969 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGTCTCCCTATAGTGATGGAG 0.413 T BRAF papillary thyroid 7 51 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93055820 93055820 + Missense_Mutation SNP A T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:93055820A>T uc003umv.1 - 15 1636 c.1375T>A c.(1375-1377)TCT>ACT p.S459T CALCR_uc011kia.1_Missense_Mutation_p.S239T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.S425T|CALCR_uc003umw.2_Missense_Mutation_p.S425T NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 441 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCGCGAGCAGAGCGGTTGGAG 0.587 21 80 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123092884 123092884 + Silent SNP A T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:123092884A>T uc003vkn.2 - 13 2866 c.2289T>A c.(2287-2289)CTT>CTA p.L763L IQUB_uc011kny.1_Silent_p.L96L|IQUB_uc003vko.2_Silent_p.L763L|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 763 ovary(3)|large_intestine(1) 4 CACCATCATCAAGTATAAATG 0.403 11 31 --- --- --- --- PASS ATP6V0A4 50617 broad.mit.edu 37 7 138429946 138429946 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:138429946T>C uc003vuf.2 - 13 1638 c.1400A>G c.(1399-1401)AAT>AGT p.N467S ATP6V0A4_uc003vug.2_Missense_Mutation_p.N467S|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.N467S NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 467 Helical; (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 GAAGCAGTCATTGTAGATCAA 0.483 24 60 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143140680 143140680 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:143140680G>T uc011ktg.1 + 1 135 c.135G>T c.(133-135)GAG>GAT p.E45D uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 45 Helical; Name=2; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) TGGGCGTGGAGTGGGTGCTAC 0.488 16 109 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146818104 146818104 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:146818104C>A uc003weu.1 + 6 1304 c.788C>A c.(787-789)ACA>AAA p.T263K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 263 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TATGGCCACACATCAGTGATG 0.507 HNSCC(39;0.1) 12 32 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154519510 154519510 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr7:154519510G>T uc003wlk.2 + 8 925 c.796G>T c.(796-798)GCA>TCA p.A266S DPP6_uc003wli.2_Missense_Mutation_p.A202S|DPP6_uc003wlm.2_Missense_Mutation_p.A204S|DPP6_uc011kvq.1_Missense_Mutation_p.A159S NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 266 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) CTACTACTGTGCACATGTCGG 0.388 3 26 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39644560 39644560 + Nonsense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:39644560G>C uc003xnj.2 - 10 899 c.824C>G c.(823-825)TCA>TGA p.S275* ADAM2_uc003xnk.2_Nonsense_Mutation_p.S256*|ADAM2_uc011lck.1_Nonsense_Mutation_p.S275*|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 275 Extracellular (Potential).|Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AACATAATTTGACTTTTCTCT 0.254 7 55 --- --- --- --- PASS PRKDC 5591 broad.mit.edu 37 8 48794537 48794537 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:48794537C>A uc003xqi.2 - 38 4955 c.4898G>T c.(4897-4899)TGG>TTG p.W1633L PRKDC_uc003xqj.2_Missense_Mutation_p.W1633L|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1633 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATCTTTGGCCCACCATGAATC 0.428 NHEJ 12 52 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69050754 69050754 + Splice_Site SNP T A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:69050754T>A uc003xxv.1 + 33 4114 c.4087_splice c.e33+2 p.N1363_splice NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TGGTTGCAAGTAAGTAATTAG 0.279 21 35 --- --- --- --- PASS LRRCC1 85444 broad.mit.edu 37 8 86044041 86044041 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:86044041G>T uc003ycw.2 + 12 1967 c.1813G>T c.(1813-1815)GAT>TAT p.D605Y LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.D306Y|LRRCC1_uc003ycx.2_Missense_Mutation_p.D512Y|LRRCC1_uc003ycy.2_Missense_Mutation_p.D585Y NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 605 Potential. cell division|mitosis centriole|nucleus 0 TGACTTCCAGGATGCCTTAGC 0.358 10 36 --- --- --- --- PASS CA3 761 broad.mit.edu 37 8 86354361 86354361 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:86354361G>T uc003ydj.2 + 3 375 c.292G>T c.(292-294)GGC>TGC p.G98C CA3_uc011lfv.1_Intron NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 98 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 TCTTCACTGGGGCTCTTCGGA 0.512 8 56 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131833626 131833626 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr8:131833626C>A uc003ytd.3 - 13 2972 c.2716G>T c.(2716-2718)GCC>TCC p.A906S ADCY8_uc010mds.2_Missense_Mutation_p.A775S NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 906 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGGAACATGGCCATCAGTAGC 0.463 HNSCC(32;0.087) 11 22 --- --- --- --- PASS ODF2 4957 broad.mit.edu 37 9 131261374 131261374 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr9:131261374A>G uc011mbd.1 + 20 2581 c.2270A>G c.(2269-2271)GAA>GGA p.E757G ODF2_uc004bvb.2_Missense_Mutation_p.E733G|ODF2_uc011mbe.1_Missense_Mutation_p.E752G|ODF2_uc004bvc.2_Missense_Mutation_p.E733G|ODF2_uc004bvd.3_Missense_Mutation_p.E757G|ODF2_uc004bvh.2_Missense_Mutation_p.E163G NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 757 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 ACCAAAACGGAATTGAGCCAG 0.607 7 41 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108923977 108923977 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr10:108923977G>T uc001kym.2 - 1 316 c.308C>A c.(307-309)GCA>GAA p.A103E SORCS1_uc001kyl.2_Missense_Mutation_p.A103E|SORCS1_uc009xxs.2_Missense_Mutation_p.A103E|SORCS1_uc001kyn.1_Missense_Mutation_p.A103E|SORCS1_uc001kyo.2_Missense_Mutation_p.A103E NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 103 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCCGGAGCGTGCAGCAACCGC 0.706 4 10 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1267306 1267306 + Missense_Mutation SNP T G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:1267306T>G uc009ycr.1 + 49 11071 c.10945T>G c.(10945-10947)TTT>GTT p.F3649V MUC5B_uc001ltb.2_Missense_Mutation_p.F3069V NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3066 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCTACCAGCTTTACACCCAT 0.592 5 92 --- --- --- --- PASS SLC22A18 5002 broad.mit.edu 37 11 2946385 2946385 + Silent SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:2946385C>G uc001lwx.2 + 11 1451 c.1233C>G c.(1231-1233)CTC>CTG p.L411L SLC22A18_uc001lwy.2_Silent_p.L411L|SLC22A18_uc001lwz.2_Silent_p.L313L NM_183233 NP_899056 Q96BI1 S22AI_HUMAN tumor suppressing subtransferable candidate 5 411 Helical; (Potential). excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|ovary(1) 3 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) TCCTGGTCCTCTGGAGGAAAC 0.597 12 51 --- --- --- --- PASS OR51I2 390064 broad.mit.edu 37 11 5475341 5475341 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:5475341G>T uc010qzf.1 + 1 623 c.623G>T c.(622-624)GGC>GTC p.G208V HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCACCTTTGGCATGGACCTG 0.483 54 83 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7063864 7063864 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:7063864G>C uc001mfb.1 + 4 930 c.607G>C c.(607-609)GGC>CGC p.G203R NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 203 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGGGCAGAGGGCAGTCTCTA 0.453 3 64 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515730 51515730 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:51515730G>T uc010ric.1 + 1 449 c.449G>T c.(448-450)GGC>GTC p.G150V NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGGATGGGAGGCTTTCTTCAT 0.463 45 109 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57080481 57080481 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:57080481G>C uc001njr.2 - 4 1993 c.1681C>G c.(1681-1683)CAA>GAA p.Q561E TNKS1BP1_uc001njs.2_Missense_Mutation_p.Q561E|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.Q12E NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 561 Pro-rich.|Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) AATTGAGGTTGACTCTCCCCA 0.597 12 54 --- --- --- --- PASS CLP1 10978 broad.mit.edu 37 11 57428849 57428849 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:57428849C>T uc001nkw.2 + 3 1358 c.1219C>T c.(1219-1221)CGC>TGC p.R407C CLP1_uc010rjw.1_Missense_Mutation_p.R343C|CLP1_uc009yml.2_Missense_Mutation_p.R407C NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 407 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 TCCAGCCCCTCGCCCACTGCC 0.512 44 70 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958307 57958307 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:57958307G>T uc010rka.1 + 1 345 c.345G>T c.(343-345)CTG>CTT p.L115L NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GCTACCTTCTGGCCATCATGG 0.592 34 97 --- --- --- --- PASS PRPF19 27339 broad.mit.edu 37 11 60665722 60665722 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:60665722A>G uc001nqf.2 - 14 1369 c.1162T>C c.(1162-1164)TTC>CTC p.F388L NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 388 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 TGGCCAGGGAAGTTGGCCACA 0.527 9 44 --- --- --- --- PASS ANKRD13D 338692 broad.mit.edu 37 11 67059504 67059504 + Missense_Mutation SNP T G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:67059504T>G uc001okc.1 + 7 834 c.323T>G c.(322-324)GTG>GGG p.V108G ANKRD13D_uc001okd.1_Missense_Mutation_p.V195G|ANKRD13D_uc001oke.1_Missense_Mutation_p.V108G NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 108 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACCGGCAGGTGGTGCATGTG 0.667 6 29 --- --- --- --- PASS INPPL1 3636 broad.mit.edu 37 11 71939479 71939479 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:71939479G>C uc001osf.2 + 3 481 c.334G>C c.(334-336)GCC>CCC p.A112P INPPL1_uc001osg.2_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 112 SH2. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CCTTGTGTGCGCCCTGCTTCT 0.667 16 52 --- --- --- --- PASS C11orf70 85016 broad.mit.edu 37 11 101946766 101946766 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:101946766G>T uc001pgp.2 + 5 626 c.598G>T c.(598-600)GAT>TAT p.D200Y C11orf70_uc001pgo.2_3'UTR|C11orf70_uc001pgq.2_Missense_Mutation_p.D162Y NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN hypothetical protein LOC85016 200 skin(1) 1 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TATCTATAAGGATCTGGTGAG 0.348 18 58 --- --- --- --- PASS TTC12 54970 broad.mit.edu 37 11 113235651 113235651 + Silent SNP C T T rs145338802 byFrequency TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:113235651C>T uc001pnu.2 + 21 2016 c.1911C>T c.(1909-1911)AAC>AAT p.N637N TTC12_uc001pnv.2_Silent_p.N643N|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.N487N NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 637 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AGGTGCCCAACGTTGCGTCTT 0.557 15 30 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294718 124294718 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:124294718A>G uc010sak.1 - 1 50 c.50T>C c.(49-51)TTA>TCA p.L17S NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTGTTCTGATAATCCCACAAG 0.483 11 35 --- --- --- --- PASS PKNOX2 63876 broad.mit.edu 37 11 125267790 125267790 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:125267790C>A uc001qbu.2 + 7 734 c.420C>A c.(418-420)GTC>GTA p.V140V PKNOX2_uc010saz.1_Silent_p.V111V|PKNOX2_uc010sba.1_Silent_p.V111V|PKNOX2_uc010sbb.1_Silent_p.V76V NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 140 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CAATCCAGGTCCTGAGAATCC 0.552 10 35 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128844845 128844845 + Silent SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr11:128844845C>G uc009zcp.2 - 20 2205 c.2205G>C c.(2203-2205)CTG>CTC p.L735L ARHGAP32_uc009zcq.1_Silent_p.L695L|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Silent_p.L386L NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 735 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 AAGAGGCAGACAGTGCATCAC 0.448 4 44 --- --- --- --- PASS STYK1 55359 broad.mit.edu 37 12 10782146 10782146 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:10782146C>A uc001qys.2 - 6 1100 c.579G>T c.(577-579)GTG>GTT p.V193V NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 193 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 CATCCTCCAACACCATATAGA 0.527 HNSCC(73;0.22) 8 35 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15654584 15654584 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:15654584G>A uc001rcv.1 + 5 866 c.692G>A c.(691-693)CGT>CAT p.R231H PTPRO_uc001rcw.1_Missense_Mutation_p.R231H|PTPRO_uc001rcu.1_Missense_Mutation_p.R231H NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 231 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) ATTTCCGTTCGTATCGTAAAC 0.328 14 33 --- --- --- --- PASS YARS2 51067 broad.mit.edu 37 12 32906940 32906940 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:32906940C>A uc001rli.2 - 2 925 c.859G>T c.(859-861)GGC>TGC p.G287C NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 287 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) ACAGCGTTGCCAGCAGACTTT 0.418 36 115 --- --- --- --- PASS PA2G4 5036 broad.mit.edu 37 12 56500497 56500497 + Nonsense_Mutation SNP A T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:56500497A>T uc001sjm.2 + 2 633 c.214A>T c.(214-216)AAA>TAA p.K72* PA2G4_uc009zol.2_Nonsense_Mutation_p.K72*|PA2G4_uc009zom.2_Nonsense_Mutation_p.K72* NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN ErbB3-binding protein 1 72 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.0739) GGAAATGAAGAAAGGTAAAAA 0.249 7 43 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70963467 70963467 + Missense_Mutation SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:70963467C>G uc001swb.3 - 12 2998 c.2968G>C c.(2968-2970)GTT>CTT p.V990L PTPRB_uc010sto.1_Missense_Mutation_p.V990L|PTPRB_uc010stp.1_Missense_Mutation_p.V900L|PTPRB_uc001swc.3_Missense_Mutation_p.V1208L|PTPRB_uc001swa.3_Missense_Mutation_p.V1120L|PTPRB_uc001swd.3_Missense_Mutation_p.V1207L|PTPRB_uc009zrr.1_Missense_Mutation_p.V1087L NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 990 Fibronectin type-III 11.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GTCCGCCCAACCACATTTATC 0.522 45 34 --- --- --- --- PASS SART3 9733 broad.mit.edu 37 12 108936867 108936867 + Silent SNP T A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:108936867T>A uc001tmz.1 - 6 1078 c.843A>T c.(841-843)GTA>GTT p.V281V SART3_uc001tmy.1_5'Flank|SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Silent_p.V281V|SART3_uc010swy.1_Silent_p.V167V|SART3_uc010swz.1_Silent_p.V281V|SART3_uc001tna.1_RNA NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T 281 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 AGTTCTGAATTACTGACTCTG 0.413 Porokeratosis 31 33 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124362328 124362328 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:124362328T>C uc001uft.3 + 47 7916 c.7891T>C c.(7891-7893)TGC>CGC p.C2631R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2631 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTGACATTCTGCACGCTAGC 0.398 19 31 --- --- --- --- PASS GPR133 283383 broad.mit.edu 37 12 131561415 131561415 + Missense_Mutation SNP T A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:131561415T>A uc001uit.3 + 14 2102 c.1543T>A c.(1543-1545)TTC>ATC p.F515I GPR133_uc010tbm.1_Missense_Mutation_p.F547I|GPR133_uc009zyo.2_5'UTR|GPR133_uc001uiv.1_Missense_Mutation_p.F34I NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 515 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CTTCCTGGACTTCAGGTACCC 0.582 19 23 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29600146 29600146 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:29600146G>T uc001usl.3 + 1 1399 c.1341G>T c.(1339-1341)GTG>GTT p.V447V NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 437 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 ACAGTCATGTGGCTTTTATTC 0.483 5 20 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52548103 52548103 + Missense_Mutation SNP T G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:52548103T>G uc001vfw.2 - 2 1410 c.1253A>C c.(1252-1254)GAA>GCA p.E418A ATP7B_uc010adv.2_Missense_Mutation_p.E418A|ATP7B_uc001vfx.2_Missense_Mutation_p.E418A|ATP7B_uc001vfy.2_Missense_Mutation_p.E307A|ATP7B_uc010tgt.1_Missense_Mutation_p.E418A|ATP7B_uc010tgu.1_Missense_Mutation_p.E418A|ATP7B_uc010tgv.1_Missense_Mutation_p.E418A|ATP7B_uc010tgw.1_Missense_Mutation_p.E386A NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 418 HMA 4.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TCCCATGTCTTCTATAGCAGC 0.463 Wilson_disease 8 44 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58299291 58299291 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:58299291G>T uc001vhq.1 + 4 4235 c.3343G>T c.(3343-3345)GGT>TGT p.G1115C PCDH17_uc010aec.1_Missense_Mutation_p.G1114C|PCDH17_uc001vhr.1_Missense_Mutation_p.G204C NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1115 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTGAGATGGGTGCTGTTCT 0.512 36 99 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70535466 70535466 + Nonsense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:70535466C>T uc001vip.2 - 3 1585 c.791G>A c.(790-792)TGG>TAG p.W264* KLHL1_uc010thm.1_Nonsense_Mutation_p.W203* NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 264 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GACAAGGTCCCAGAGAGCATT 0.378 19 70 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109817407 109817407 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:109817407G>C uc001vqt.1 + 33 5383 c.5257G>C c.(5257-5259)GGT>CGT p.G1753R MYO16_uc010agk.1_Missense_Mutation_p.G1775R NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1753 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CATCTCAAATGGTAAGCACTT 0.328 10 43 --- --- --- --- PASS ARHGEF7 8874 broad.mit.edu 37 13 111944527 111944527 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr13:111944527G>T uc001vrs.2 + 20 2510 c.2260G>T c.(2260-2262)GAC>TAC p.D754Y ARHGEF7_uc001vrr.2_Missense_Mutation_p.D733Y|ARHGEF7_uc001vrt.2_Missense_Mutation_p.D704Y|ARHGEF7_uc001vrv.3_Intron|ARHGEF7_uc001vrw.3_Intron|ARHGEF7_uc001vrx.3_Intron|ARHGEF7_uc010tjo.1_Intron|ARHGEF7_uc010tjp.1_Missense_Mutation_p.D498Y|ARHGEF7_uc001vry.1_Missense_Mutation_p.D170Y NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 754 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACCAAGCCTAGACTCCCTGGG 0.552 18 55 --- --- --- --- PASS OR11H4 390442 broad.mit.edu 37 14 20711630 20711630 + Missense_Mutation SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:20711630C>A uc010tld.1 + 1 680 c.680C>A c.(679-681)TCC>TAC p.S227Y NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 227 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATTCTTCGATCCTATATCCTG 0.438 93 201 --- --- --- --- PASS RNASE12 493901 broad.mit.edu 37 14 21058696 21058696 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:21058696T>C uc001vxt.2 - 1 287 c.187A>G c.(187-189)AAA>GAA p.K63E RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_RNA NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 63 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) TGCTCCTTTTTACAAGTGTGG 0.453 39 61 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24529408 24529408 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:24529408C>T uc001wlj.2 + 24 2162 c.2005C>T c.(2005-2007)CCC>TCC p.P669S LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 669 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CCAGACGTGCCCCCAGGAGCA 0.642 8 58 --- --- --- --- PASS CMA1 1215 broad.mit.edu 37 14 24975443 24975443 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:24975443A>G uc001wpp.1 - 4 421 c.391T>C c.(391-393)TTC>CTC p.F131L CMA1_uc010alx.1_Missense_Mutation_p.F20L NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 131 Peptidase S1. FP -> AV (in Ref. 3; AA sequence). interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) TGGGATGGGAAGGGGAGTGTC 0.567 7 27 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237474 29237474 + Missense_Mutation SNP C A A rs150277632 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:29237474C>A uc001wqe.2 + 1 1188 c.989C>A c.(988-990)ACC>AAC p.T330N NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 330 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TACAACGGCACCACGTCGGCC 0.647 35 83 --- --- --- --- PASS CLEC14A 161198 broad.mit.edu 37 14 38724715 38724715 + Silent SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:38724715G>A uc001wum.1 - 1 860 c.513C>T c.(511-513)TGC>TGT p.C171C NM_175060 NP_778230 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 171 Extracellular (Potential).|C-type lectin. integral to membrane sugar binding ovary(3)|skin(1) 4 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) ACTGGTACTTGCACAGGTAGC 0.577 24 59 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50585243 50585243 + Missense_Mutation SNP C A A rs58365465 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:50585243C>A uc001wxs.3 - 23 3916 c.3818G>T c.(3817-3819)CGA>CTA p.R1273L SOS2_uc010ans.2_Missense_Mutation_p.R108L|SOS2_uc010tql.1_Missense_Mutation_p.R1240L|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1273 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CACATAGCATCGACGCGGTAC 0.517 12 37 --- --- --- --- PASS MPP5 64398 broad.mit.edu 37 14 67768148 67768148 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:67768148G>C uc001xjc.2 + 5 1085 c.619G>C c.(619-621)GAA>CAA p.E207Q MPP5_uc001xjd.2_Missense_Mutation_p.E173Q|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 207 Interaction with LIN7C (By similarity).|L27 2. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) GGAAGGACAAGAACTAACTGC 0.318 7 38 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75265315 75265315 + Silent SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:75265315A>G uc001xqj.3 + 5 3439 c.3315A>G c.(3313-3315)GCA>GCG p.A1105A YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 910 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACAGGGGTGCAGCTGGCAGCC 0.617 9 17 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107083364 107083364 + RNA SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:107083364G>T uc010tyt.1 - 113 c.5429C>A Parts of antibodies, mostly variable regions. 0 TCTTGAGGGAGGGGTTGTAGT 0.542 27 81 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22848885 22848885 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr15:22848885G>T uc001yur.3 + 10 1062 c.932G>T c.(931-933)CGA>CTA p.R311L TUBGCP5_uc001yuq.2_Missense_Mutation_p.R311L|TUBGCP5_uc010axz.1_5'UTR NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 311 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) AGCTGTTTACGATCTGTGCTG 0.423 11 48 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34549958 34549958 + Missense_Mutation SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr15:34549958T>C uc001zhw.2 - 5 739 c.575A>G c.(574-576)TAC>TGC p.Y192C SLC12A6_uc001zhv.2_Missense_Mutation_p.Y141C|SLC12A6_uc001zhx.2_Missense_Mutation_p.Y177C|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.Y133C|SLC12A6_uc001zib.2_Missense_Mutation_p.Y183C|SLC12A6_uc001zic.2_Missense_Mutation_p.Y192C|SLC12A6_uc010bau.2_Missense_Mutation_p.Y192C|SLC12A6_uc001zid.2_Missense_Mutation_p.Y133C|SLC12A6_uc001zhu.2_Intron NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 192 Helical; (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ACATGGGAGGTAGACACCCAT 0.393 6 16 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 64046826 64046826 + Missense_Mutation SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr15:64046826C>G uc002amp.2 - 7 1800 c.1652G>C c.(1651-1653)CGT>CCT p.R551P HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.R551P NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 551 RCC1 4. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TGGAATGTTACGACTATTGCT 0.373 12 50 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 72040852 72040852 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr15:72040852G>A uc002atb.1 + 13 2413 c.2334G>A c.(2332-2334)ATG>ATA p.M778I THSD4_uc002ate.2_Missense_Mutation_p.M418I NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 778 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 AATGCAACATGAAGCTCCGGC 0.572 13 25 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20441101 20441101 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr16:20441101A>G uc002dhe.2 + 8 1250 c.1103A>G c.(1102-1104)GAA>GGA p.E368G NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 368 ATP (By similarity). fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GAGCTGTACGAAGGCTATGGC 0.617 5 33 --- --- --- --- PASS KARS 3735 broad.mit.edu 37 16 75663434 75663434 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr16:75663434C>T uc002feq.2 - 12 1478 c.1430G>A c.(1429-1431)CGC>CAC p.R477H KARS_uc002fer.2_Missense_Mutation_p.R505H|KARS_uc002fes.2_Missense_Mutation_p.R321H NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 477 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CTCTTTAGAGCGGTGCCTAGG 0.403 18 131 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81151074 81151074 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr16:81151074C>T uc002fgh.1 - 41 6675 c.6675G>A c.(6673-6675)CTG>CTA p.L2225L PKD1L2_uc002fgf.1_Silent_p.L25L|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2225 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGATGATGGCCAGCTCCAGAA 0.617 28 59 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T C C rs148924904 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:7578442T>C uc002gim.2 - 5 682 c.488A>G c.(487-489)TAC>TGC p.Y163C TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 163 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(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) TGACTGCTTGTAGATGGCCAT 0.622 111 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) 14 27 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12626177 12626177 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:12626177G>C uc002gnn.2 + 5 566 c.267G>C c.(265-267)GAG>GAC p.E89D MYOCD_uc002gno.2_Missense_Mutation_p.E89D|MYOCD_uc002gnp.1_5'UTR NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 89 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCACTGCAGAGAGGTCCATTC 0.453 27 65 --- --- --- --- PASS SLC5A10 125206 broad.mit.edu 37 17 18862955 18862955 + Silent SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:18862955G>C uc002guu.1 + 4 368 c.327G>C c.(325-327)GTG>GTC p.V109V SLC5A10_uc002gur.1_Silent_p.V53V|SLC5A10_uc002gut.1_Silent_p.V109V|SLC5A10_uc002guv.1_Silent_p.V109V|SLC5A10_uc010vyl.1_Silent_p.V109V NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 109 Helical; (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 GGGTGTTCGTGCCCATCTACA 0.592 11 30 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520469 33520469 + Silent SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:33520469T>C uc002hjd.2 - 1 944 c.858A>G c.(856-858)CTA>CTG p.L286L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 286 DUF6 2.|Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CCTCGGAATGTAGGACAGCGC 0.592 3 111 --- --- --- --- PASS MYO19 80179 broad.mit.edu 37 17 34856770 34856770 + Silent SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:34856770C>G uc010wcy.1 - 24 3269 c.2277G>C c.(2275-2277)CGG>CGC p.R759R MYO19_uc002hmw.2_Silent_p.R559R|MYO19_uc010cuu.2_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 759 IQ 1. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCTCCAGCACCCGGGCACGCC 0.667 4 8 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57126641 57126641 + Silent SNP T C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:57126641T>C uc002iwy.3 - 15 1872 c.1428A>G c.(1426-1428)GCA>GCG p.A476A TRIM37_uc002iwz.3_Silent_p.A476A|TRIM37_uc002ixa.3_Silent_p.A354A|TRIM37_uc010woc.1_Silent_p.A442A NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 476 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGTCAGAGCATGCAGACTTCT 0.453 Mulibrey_Nanism 63 36 --- --- --- --- PASS ABCA6 23460 broad.mit.edu 37 17 67079035 67079035 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr17:67079035G>A uc002jhw.1 - 36 4770 c.4595C>T c.(4594-4596)CCA>CTA p.P1532L NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1532 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TGCAGCCTGTGGGAAAAGCTT 0.443 90 139 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5398051 5398051 + Missense_Mutation SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr18:5398051C>G uc002kmt.1 - 17 2527 c.2441G>C c.(2440-2442)GGG>GCG p.G814A EPB41L3_uc010wzh.1_Missense_Mutation_p.G645A|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Missense_Mutation_p.G119A|EPB41L3_uc010wzf.1_Missense_Mutation_p.G111A|EPB41L3_uc010wzg.1_Missense_Mutation_p.G86A|EPB41L3_uc010dkr.2_Missense_Mutation_p.G206A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 814 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGAAGTAACCCCTCCTATGAA 0.448 49 95 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13089487 13089487 + Missense_Mutation SNP A C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr18:13089487A>C uc010xac.1 + 33 6106 c.6026A>C c.(6025-6027)CAG>CCG p.Q2009P CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.Q1534P|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.Q431P|CEP192_uc002krw.2_Missense_Mutation_p.Q158P|CEP192_uc002krx.2_Missense_Mutation_p.Q13P|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2009 ovary(4)|pancreas(1) 5 ATGATAAAACAGATACTTCCA 0.313 16 41 --- --- --- --- PASS PSMA8 143471 broad.mit.edu 37 18 23772372 23772372 + Silent SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr18:23772372C>G uc002kvq.2 + 7 882 c.768C>G c.(766-768)GTC>GTG p.V256V PSMA8_uc002kvo.2_Silent_p.V212V|PSMA8_uc002kvp.2_Silent_p.V250V|PSMA8_uc002kvr.2_Silent_p.V224V NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 256 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) AGAAATCTGTCTAATTCTTAG 0.323 6 19 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28923950 28923950 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr18:28923950A>G uc002kwp.2 + 13 2095 c.1883A>G c.(1882-1884)GAC>GGC p.D628G DSG1_uc010xbp.1_5'UTR NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 628 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GAATGCATTGACAACTCAGGT 0.294 20 53 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30321943 30321943 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr18:30321943G>T uc002kxm.1 - 3 1405 c.1017C>A c.(1015-1017)AGC>AGA p.S339R KLHL14_uc010dmd.1_5'UTR NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 339 Kelch 1. cytosol|endoplasmic reticulum membrane ovary(1) 1 GAACCAAATTGCTGGGGAGCC 0.373 5 17 --- --- --- --- PASS CREB3L3 84699 broad.mit.edu 37 19 4157049 4157049 + Missense_Mutation SNP G C C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:4157049G>C uc002lzl.2 + 3 330 c.214G>C c.(214-216)GAC>CAC p.D72H CREB3L3_uc002lzm.2_Missense_Mutation_p.D62H|CREB3L3_uc010xib.1_Missense_Mutation_p.D63H|CREB3L3_uc010xic.1_Missense_Mutation_p.D63H NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 72 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCTCTGGAGACTCACTGCC 0.632 11 34 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5724856 5724856 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:5724856A>G uc002mda.2 + 2 170 c.109A>G c.(109-111)ATA>GTA p.I37V TMEM146_uc010duj.1_Intron NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 37 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTTAATCTGATACAGGACGT 0.338 46 76 --- --- --- --- PASS STXBP2 6813 broad.mit.edu 37 19 7707385 7707385 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:7707385G>T uc002mha.3 + 10 910 c.865G>T c.(865-867)GTG>TTG p.V289L STXBP2_uc002mhb.3_Missense_Mutation_p.V286L|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.V300L|STXBP2_uc010dvk.2_Missense_Mutation_p.V257L|STXBP2_uc002mhc.3_Missense_Mutation_p.V57L|STXBP2_uc002mhe.1_5'Flank NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 289 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 TGACTTGTGGGTGGAGCTTCG 0.662 20 58 --- --- --- --- PASS CYP2B6 1555 broad.mit.edu 37 19 41522660 41522660 + Missense_Mutation SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:41522660C>G uc002opr.1 + 9 1411 c.1404C>G c.(1402-1404)ATC>ATG p.I468M CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.I268M NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 468 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CAGAAGACATCGATCTGACAC 0.577 6 14 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44512957 44512957 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:44512957A>G uc002oyb.1 + 3 282 c.31A>G c.(31-33)AAG>GAG p.K11E NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) AGTGACCTTCAAGGATGTGGC 0.522 39 128 --- --- --- --- PASS ZNF473 25888 broad.mit.edu 37 19 50550200 50550200 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:50550200A>G uc002prn.2 + 5 2737 c.2500A>G c.(2500-2502)AGA>GGA p.R834G ZNF473_uc002prm.2_Missense_Mutation_p.R834G|ZNF473_uc010ybo.1_Missense_Mutation_p.R822G NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 834 C2H2-type 19. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CCAGCACCTGAGAGTTCACAC 0.517 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 43 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51650535 51650535 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:51650535C>A uc002pvv.1 + 6 1251 c.1182C>A c.(1180-1182)GGC>GGA p.G394G SIGLEC7_uc002pvw.1_Silent_p.G301G|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 394 Cytoplasmic (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GAGACATAGGCATGAAGGATG 0.577 6 21 --- --- --- --- PASS NLRP2 55655 broad.mit.edu 37 19 55512225 55512225 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:55512225C>T uc002qij.2 + 13 3234 c.3148C>T c.(3148-3150)CCC>TCC p.P1050S NLRP2_uc010yfp.1_Missense_Mutation_p.P1027S|NLRP2_uc010esn.2_Missense_Mutation_p.P1026S|NLRP2_uc010eso.2_Missense_Mutation_p.P1047S|NLRP2_uc010esp.2_Missense_Mutation_p.P1028S NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 1050 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.P1050H(1) ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GAAACATCATCCCTGGGCAGA 0.408 18 49 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56538983 56538983 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr19:56538983C>T uc002qmj.2 + 7 1384 c.1384C>T c.(1384-1386)CGT>TGT p.R462C NLRP5_uc002qmi.2_Missense_Mutation_p.R443C NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 462 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CATGAACAACCGTGAGCTGCT 0.602 6 25 --- --- --- --- PASS SLC9A8 23315 broad.mit.edu 37 20 48491342 48491342 + Silent SNP C A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr20:48491342C>A uc002xuv.1 + 11 1269 c.1059C>A c.(1057-1059)ACC>ACA p.T353T SLC9A8_uc010zym.1_Silent_p.T53T|SLC9A8_uc010gic.2_Silent_p.T53T|SLC9A8_uc010gid.2_Intron NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 353 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CCCTCCGCACCGTGGCCTTCT 0.547 25 77 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38844986 38844986 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr21:38844986G>A uc002ywk.2 + 2 86 c.11G>A c.(10-12)GGA>GAA p.G4E DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_5'UTR|DYRK1A_uc002ywi.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywj.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywl.2_Missense_Mutation_p.G4E|DYRK1A_uc002ywm.2_Missense_Mutation_p.G4E NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 4 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 CTTCTTGTAGGAGGAGAGACT 0.393 8 40 --- --- --- --- PASS PRODH 5625 broad.mit.edu 37 22 18912699 18912699 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr22:18912699C>T uc010grl.2 - 4 546 c.532G>A c.(532-534)GAC>AAC p.D178N PRODH_uc002zoj.3_Missense_Mutation_p.D68N|PRODH_uc002zol.3_Missense_Mutation_p.D68N|PRODH_uc002zok.3_Missense_Mutation_p.D178N NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 178 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) TATTGCTTGTCCCGCTTATTC 0.617 12 41 --- --- --- --- PASS TPST2 8459 broad.mit.edu 37 22 26937357 26937357 + Silent SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr22:26937357G>T uc003acv.2 - 2 408 c.240C>A c.(238-240)GGC>GGA p.G80G TPST2_uc003acw.2_Silent_p.G80G|TPST2_uc003acx.2_Silent_p.G80G|TPST2_uc011akf.1_Silent_p.G80G NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 80 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 TCAACGTGGTGCCACTGCGAG 0.677 6 27 --- --- --- --- PASS RANGAP1 5905 broad.mit.edu 37 22 41670655 41670655 + Silent SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr22:41670655C>T uc003azs.2 - 2 1659 c.189G>A c.(187-189)GTG>GTA p.V63V RANGAP1_uc003azt.2_Silent_p.V63V|RANGAP1_uc003azu.2_Silent_p.V63V|RANGAP1_uc011aoz.1_Silent_p.V53V NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 63 LRR 1. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TGGCTGCTTCCACGCCCACTG 0.537 16 46 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18198764 18198764 + Missense_Mutation SNP A G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:18198764A>G uc004cyj.3 - 9 1449 c.1295T>C c.(1294-1296)TTA>TCA p.L432S BEND2_uc010nfb.2_Missense_Mutation_p.L341S NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 432 ovary(3)|kidney(1)|central_nervous_system(1) 5 ATTCAGAGGTAACagtgctga 0.214 12 9 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77289124 77289124 + Missense_Mutation SNP G T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:77289124G>T uc004ecx.3 + 17 3476 c.3316G>T c.(3316-3318)GGT>TGT p.G1106C NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1106 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 TGAAACCTTGGGTACCTGCAT 0.403 17 13 --- --- --- --- PASS IL1RAPL2 26280 broad.mit.edu 37 X 104984630 104984630 + Missense_Mutation SNP C T T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:104984630C>T uc004elz.1 + 8 1750 c.994C>T c.(994-996)CAT>TAT p.H332Y NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 332 Ig-like C2-type 3.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TTATACCTGCCATGTTGAAAA 0.383 34 29 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111020095 111020095 + Missense_Mutation SNP C G G TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:111020095C>G uc004epl.1 - 11 3287 c.2368G>C c.(2368-2370)GCT>CCT p.A790P NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 790 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TTGGCCCGAGCCCCACCACTG 0.483 8 175 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125686548 125686548 + Missense_Mutation SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:125686548G>A uc004eul.2 - 1 295 c.44C>T c.(43-45)GCG>GTG p.A15V NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 15 skin(3)|ovary(1) 4 CGCCTCGACCGCGGGCGCTTT 0.512 4 18 --- --- --- --- PASS SASH3 54440 broad.mit.edu 37 X 128925032 128925032 + Silent SNP G A A TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chrX:128925032G>A uc011mun.1 + 4 599 c.417G>A c.(415-417)CCG>CCA p.P139P SASH3_uc004euu.2_Silent_p.P139P|SASH3_uc011muo.1_Silent_p.P56P NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 139 ovary(2)|pancreas(1) 3 ATGAACTTCCGGTGCTCAGCC 0.612 7 20 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC - - rs35817759 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr1:240255569_240255571delGGC uc010pyd.1 + 1 385_387 c.160_162delGGC c.(160-162)GGCdel p.G59del FMN2_uc010pye.1_In_Frame_Del_p.G59del NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 59 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGGAgggggcggcggcggcg 0.557 8 7 --- --- --- --- ULK1 8408 broad.mit.edu 37 12 132396531 132396535 + Frame_Shift_Del DEL GGCTG - - rs56390341 TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr12:132396531_132396535delGGCTG uc001uje.2 + 13 1261_1265 c.993_997delGGCTG c.(991-999)CCGGCTGACfs p.P331fs NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 331_333 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGCCTCCCCGGCTGACACCGCTGG 0.639 14 10 --- --- --- --- GPHN 10243 broad.mit.edu 37 14 67567581 67567581 + Frame_Shift_Del DEL G - - TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx aaf47efe-4a0a-40d1-b70f-9c9168cbdae0 00644bfb-0824-40c2-aeeb-ad1103559466 g.chr14:67567581delG uc001xiy.2 + 12 2268 c.1147delG c.(1147-1149)GGCfs p.G383fs GPHN_uc001xix.2_Frame_Shift_Del_p.G416fs|GPHN_uc010tss.1_Frame_Shift_Del_p.G429fs|GPHN_uc010tst.1_Frame_Shift_Del_p.G352fs|GPHN_uc010tsu.1_Frame_Shift_Del_p.G306fs NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 383 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AGCTGCTGATGGCCCAGGAGA 0.443 T MLL AL 37 16 --- --- --- ---