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 1459303 1459303 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:1459303A>T uc001afz.1 + 10 1286 c.1192A>T c.(1192-1194)ATG>TTG p.M398L ATAD3A_uc001aga.1_Missense_Mutation_p.M350L|ATAD3A_uc001agb.1_Missense_Mutation_p.M271L NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 398 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) GAACATCCTGATGTACGGGCC 0.642 56 55 --- --- --- --- PASS LOC649330 649330 broad.mit.edu 37 1 12907697 12907697 + Nonsense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:12907697G>C uc009vno.2 - 1 541 c.446C>G c.(445-447)TCA>TGA p.S149* HNRNPCL1_uc010obf.1_Nonsense_Mutation_p.S149* NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 149 nucleic acid binding|nucleotide binding 0 GGTGTTTCCTGATAGACGTTG 0.498 55 156 --- --- --- --- PASS C1QA 712 broad.mit.edu 37 1 22965844 22965844 + Nonsense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:22965844C>T uc001bfy.2 + 3 767 c.682C>T c.(682-684)CAG>TAG p.Q228* C1QA_uc001bfz.2_Nonsense_Mutation_p.Q228* NM_015991 NP_057075 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 228 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCACATTTACCAGGGCTCTGA 0.602 26 57 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34042934 34042934 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:34042934C>T uc001bxn.1 - 50 7573 c.7544G>A c.(7543-7545)GGC>GAC p.G2515D CSMD2_uc001bxm.1_Missense_Mutation_p.G2513D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2515 Sushi 14.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGGTGGTAGCCCTGGGGGTG 0.617 31 94 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35350614 35350614 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:35350614G>A uc001byc.2 - 6 1965 c.1965C>T c.(1963-1965)TTC>TTT p.F655F NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 655 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CAATAGAGTGGAACTCCCTCC 0.597 37 35 --- --- --- --- PASS TRIT1 54802 broad.mit.edu 37 1 40319707 40319707 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:40319707T>C uc010oiz.1 - 3 363 c.349A>G c.(349-351)ATT>GTT p.I117V TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_5'UTR|TRIT1_uc001ceh.3_5'UTR|TRIT1_uc009vvv.2_5'UTR|TRIT1_uc001cei.3_5'UTR|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron|TRIT1_uc010oja.1_RNA NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 117 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCCACAACAATAGGAATTTTG 0.373 67 35 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45501723 45501723 + Silent SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:45501723A>G uc001cnd.2 - 9 2371 c.2143T>C c.(2143-2145)TTA>CTA p.L715L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 715 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TCCAGCAGTAAGATGCATTGT 0.488 60 46 --- --- --- --- PASS ROR1 4919 broad.mit.edu 37 1 64643964 64643964 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:64643964G>A uc001dbj.2 + 9 2639 c.2240G>A c.(2239-2241)CGG>CAG p.R747Q uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 747 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 GTCCGGCTTCGGTCCTGGGAG 0.512 19 70 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70397238 70397238 + Silent SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:70397238T>C uc001dep.2 + 6 612 c.582T>C c.(580-582)AAT>AAC p.N194N LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 194 LRR 8. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TAGGCAATAATGAATTCGGTG 0.388 12 47 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79404932 79404932 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:79404932C>A uc001diq.3 - 4 493 c.337G>T c.(337-339)GCA>TCA p.A113S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 113 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGGCAGTTTGCATTCACATTT 0.249 15 31 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86306958 86306958 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:86306958A>T uc001dlj.2 - 42 3616 c.3574T>A c.(3574-3576)TAC>AAC p.Y1192N COL24A1_uc001dli.2_Missense_Mutation_p.Y328N|COL24A1_uc010osd.1_Missense_Mutation_p.Y492N|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1192 Collagen-like 12. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TCTCCTGGGTAGCCCTAAAAT 0.328 27 23 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98157303 98157303 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:98157303C>A uc001drv.2 - 7 869 c.732G>T c.(730-732)GAG>GAT p.E244D DPYD_uc010oub.1_RNA NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 244 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTAGCTCAATCTCAAAATTCA 0.368 43 48 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103380351 103380351 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:103380351C>G uc001dul.2 - 51 4151 c.3833G>C c.(3832-3834)AGA>ACA p.R1278T COL11A1_uc001duk.2_Missense_Mutation_p.R474T|COL11A1_uc001dum.2_Missense_Mutation_p.R1290T|COL11A1_uc001dun.2_Missense_Mutation_p.R1239T|COL11A1_uc009weh.2_Missense_Mutation_p.R1162T NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1278 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCTCTCCTCTTTCTCCTTT 0.428 5 17 --- --- --- --- PASS PHTF1 10745 broad.mit.edu 37 1 114269168 114269168 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:114269168C>A uc009wgp.1 - 5 812 c.360G>T c.(358-360)ATG>ATT p.M120I PHTF1_uc001edn.2_Missense_Mutation_p.M120I|PHTF1_uc010own.1_Missense_Mutation_p.M120I|PHTF1_uc001edp.2_Missense_Mutation_p.M120I NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 120 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACAATAGGCATCATCAAAT 0.328 46 38 --- --- --- --- PASS SEC22B 9554 broad.mit.edu 37 1 145112467 145112467 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:145112467G>C uc001eml.1 + 6 581 c.441G>C c.(439-441)AGG>AGC p.R147S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 147 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 ATGTGCAGAGGATCATGGTGG 0.408 14 273 --- --- --- --- PASS NOTCH2NL 388677 broad.mit.edu 37 1 145273192 145273192 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:145273192G>T uc001emn.3 + 3 416 c.46G>T c.(46-48)GAA>TAA p.E16* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Nonsense_Mutation_p.E16*|NOTCH2NL_uc001emo.2_Nonsense_Mutation_p.E16*|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 16 EGF-like 1. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 CAGATGTCCAGAAGGCTTCTT 0.463 11 299 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154574628 154574628 + Nonsense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:154574628T>A uc001ffh.2 - 2 690 c.490A>T c.(490-492)AAA>TAA p.K164* ADAR_uc001ffj.2_Nonsense_Mutation_p.K164*|ADAR_uc001ffi.2_Nonsense_Mutation_p.K164*|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 164 DRADA 1. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GTCCCAAGTTTCCCAGACAGA 0.473 331 418 --- --- --- --- PASS ADAR 103 broad.mit.edu 37 1 154574810 154574810 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:154574810C>T uc001ffh.2 - 2 508 c.308G>A c.(307-309)GGG>GAG p.G103E ADAR_uc001ffj.2_Missense_Mutation_p.G103E|ADAR_uc001ffi.2_Missense_Mutation_p.G103E|ADAR_uc001ffk.2_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Intron|ADAR_uc001ffn.1_Intron NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 103 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TCTCTGGAGCCCCTGACTTCT 0.567 107 144 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157772251 157772251 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:157772251C>A uc001frg.2 - 4 636 c.523G>T c.(523-525)GAG>TAG p.E175* FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Nonsense_Mutation_p.E175*|FCRL1_uc001fri.2_Nonsense_Mutation_p.E175*|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 175 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCATCACTCTCCCTCACTGAA 0.488 198 198 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158645971 158645971 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:158645971G>T uc001fst.1 - 8 1271 c.1072C>A c.(1072-1074)CTG>ATG p.L358M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 358 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTGGTGGCCAGGGCACGAATA 0.488 278 264 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669554 158669554 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:158669554C>A uc001fsu.1 - 1 889 c.889G>T c.(889-891)GAA>TAA p.E297* NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TCTTTTATTTCTTTATTCCTC 0.383 62 96 --- --- --- --- PASS OR10J3 441911 broad.mit.edu 37 1 159283910 159283910 + Nonsense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:159283910A>T uc010piu.1 - 1 540 c.540T>A c.(538-540)TGT>TGA p.C180* NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GTCTCACATCACAGAAGAAGT 0.502 70 93 --- --- --- --- PASS OLFML2B 25903 broad.mit.edu 37 1 161976198 161976198 + Silent SNP G T T rs140833279 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:161976198G>T uc001gbu.2 - 4 1036 c.612C>A c.(610-612)ACC>ACA p.T204T OLFML2B_uc010pkq.1_Silent_p.T204T NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 204 Potential. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TATTCATCTCGGTTCGAATTT 0.433 131 194 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176738762 176738762 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:176738762G>C uc001gkz.2 + 16 5507 c.4343G>C c.(4342-4344)TGT>TCT p.C1448S PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1448 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTGCTCACATGTTCTTCTGGG 0.478 139 25 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196682958 196682958 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:196682958G>A uc001gtj.3 + 10 1670 c.1430G>A c.(1429-1431)TGC>TAC p.C477Y NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 477 Sushi 8. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AAATATCAATGCAAACTAGGA 0.343 22 88 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197522230 197522230 + Nonsense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:197522230G>A uc001guf.3 - 16 1500 c.1162C>T c.(1162-1164)CGA>TGA p.R388* DENND1B_uc010ppe.1_Nonsense_Mutation_p.R368*|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Nonsense_Mutation_p.R358* NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 388 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TTTGCCAGTCGACCATCGATA 0.299 8 134 --- --- --- --- PASS KIF14 9928 broad.mit.edu 37 1 200587391 200587391 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:200587391T>C uc010ppk.1 - 2 900 c.461A>G c.(460-462)AAT>AGT p.N154S KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 154 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 AGAAACACCATTATTTTCTGT 0.358 91 109 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204394051 204394051 + Nonsense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:204394051G>A uc001haw.2 - 34 5313 c.4834C>T c.(4834-4836)CGA>TGA p.R1612* PIK3C2B_uc010pqv.1_Nonsense_Mutation_p.R1584* NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1612 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCCAGCTCTCGCAGGCGGATG 0.637 59 3 --- --- --- --- PASS MAPKAPK2 9261 broad.mit.edu 37 1 206902762 206902762 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:206902762G>T uc001hem.1 + 4 792 c.506G>T c.(505-507)AGC>ATC p.S169I MAPKAPK2_uc001hel.1_Missense_Mutation_p.S169I NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 169 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) ATCATGAAGAGCATCGGTGAG 0.522 235 41 --- --- --- --- PASS MAPKAPK2 9261 broad.mit.edu 37 1 206902763 206902763 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:206902763C>T uc001hem.1 + 4 793 c.507C>T c.(505-507)AGC>AGT p.S169S MAPKAPK2_uc001hel.1_Silent_p.S169S NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 169 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TCATGAAGAGCATCGGTGAGG 0.522 233 40 --- --- --- --- PASS CAMK1G 57172 broad.mit.edu 37 1 209785290 209785290 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:209785290G>A uc001hhd.2 + 11 1171 c.1069G>A c.(1069-1071)GAG>AAG p.E357K CAMK1G_uc001hhf.3_Missense_Mutation_p.E357K|CAMK1G_uc001hhe.2_Missense_Mutation_p.E357K NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 357 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CACCATCACCGAGGCACCTGT 0.647 76 116 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216270521 216270521 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:216270521T>A uc001hku.1 - 22 5049 c.4662A>T c.(4660-4662)GAA>GAT p.E1554D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1554 Laminin G-like 1.|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) CAATCAAACCTTCAGGCACTT 0.408 HNSCC(13;0.011) 100 26 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229631744 229631744 + Silent SNP C A A rs147071617 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:229631744C>A uc001htn.2 - 7 962 c.870G>T c.(868-870)ACG>ACT p.T290T NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 290 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGTTTGAACTCGTCAGGCTAT 0.363 3 117 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947973 237947973 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:237947973G>A uc001hyl.1 + 90 13081 c.12961G>A c.(12961-12963)GGT>AGT p.G4321S RYR2_uc010pya.1_Missense_Mutation_p.G736S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4321 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) CCTCGTCGAAGGTGCTAAAAA 0.522 94 11 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243329385 243329385 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:243329385C>A uc001hzs.2 - 13 2285 c.1877G>T c.(1876-1878)AGA>ATA p.R626I CEP170_uc001hzt.2_Missense_Mutation_p.R528I|CEP170_uc001hzu.2_Missense_Mutation_p.R528I|CEP170_uc001hzv.1_Missense_Mutation_p.R4I NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 626 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GCCAGTACTTCTCACTGTCAT 0.413 41 1 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921531 247921531 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:247921531A>T uc010pza.1 - 1 178 c.178T>A c.(178-180)TAC>AAC p.Y60N NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGAAGAAGTACATAGGGGAA 0.463 50 7 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248085208 248085208 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:248085208G>A uc010pzc.1 + 1 889 c.889G>A c.(889-891)GGA>AGA p.G297R NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAGGTGAAGGGAGCCCTGAC 0.463 227 36 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248344163 248344163 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:248344163C>T uc010pzf.1 + 1 876 c.876C>T c.(874-876)CTC>CTT p.L292L NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 292 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACAGCCTCCGCAACAAGG 0.463 75 230 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525318 248525318 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:248525318C>G uc001ieh.1 + 1 436 c.436C>G c.(436-438)CTT>GTT p.L146V NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 146 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 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) AGAATTTTTCCTTCTAGCCAC 0.522 294 38 --- --- --- --- PASS KCNK3 3777 broad.mit.edu 37 2 26950669 26950669 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:26950669C>T uc002rhn.2 + 2 581 c.418C>T c.(418-420)CTG>TTG p.L140L NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 140 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGTACCTGCTGCACCGCGC 0.622 110 19 --- --- --- --- PASS KCNK3 3777 broad.mit.edu 37 2 26950670 26950670 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:26950670T>G uc002rhn.2 + 2 582 c.419T>G c.(418-420)CTG>CGG p.L140R NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 140 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTACCTGCTGCACCGCGCC 0.622 111 18 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43919696 43919696 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:43919696C>G uc010yny.1 + 4 313 c.230C>G c.(229-231)ACC>AGC p.T77S PLEKHH2_uc002rte.3_Missense_Mutation_p.T77S|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T77S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 77 Potential. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AATATTCAAACCAGTGAATCA 0.308 37 55 --- --- --- --- PASS LRPPRC 10128 broad.mit.edu 37 2 44184548 44184548 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:44184548C>A uc002rtr.2 - 14 1683 c.1625G>T c.(1624-1626)AGT>ATT p.S542I LRPPRC_uc010yob.1_Missense_Mutation_p.S442I NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 542 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAGTAGGCTACTTCTTATAGA 0.388 95 112 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48914948 48914948 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:48914948C>G uc002rwu.3 - 11 2058 c.1988G>C c.(1987-1989)TGC>TCC p.C663S GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 663 Cytoplasmic (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GCCATTTTTGCAGTTGGAGGT 0.423 Familial_Male-Limited_Precocious_Puberty 66 427 --- --- --- --- PASS PUS10 150962 broad.mit.edu 37 2 61238926 61238926 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:61238926G>C uc010fci.2 - 2 160 c.100C>G c.(100-102)CAT>GAT p.H34D PUS10_uc002sao.2_Missense_Mutation_p.H34D|PUS10_uc010ypk.1_5'UTR|PUS10_uc002sap.1_RNA|PUS10_uc002saq.1_RNA NM_144709 NP_653310 Q3MIT2 PUS10_HUMAN pseudouridylate synthase 10 34 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(2)|large_intestine(1)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113) TAAGGTGCATGAAAATCCACA 0.343 26 66 --- --- --- --- PASS ATP6V1B1 525 broad.mit.edu 37 2 71188824 71188824 + Splice_Site SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:71188824G>T uc002shj.2 + 8 872 c.785_splice c.e8+1 p.T262_splice ATP6V1B1_uc002shi.1_Silent_p.T262T|ATP6V1B1_uc010fdv.2_Splice_Site_p.T262_splice|ATP6V1B1_uc010fdw.2_Splice_Site|ATP6V1B1_uc010fdx.2_Splice_Site_p.T220_splice NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 ATGACCCCACGTGAGCTTTCC 0.562 88 101 --- --- --- --- PASS NAT8B 51471 broad.mit.edu 37 2 73928183 73928183 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:73928183G>C uc002sjk.1 - 2 285 c.250C>G c.(250-252)CGG>GGG p.R84G NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 84 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 TCTACATACCGCGTCCAGGGT 0.547 9 236 --- --- --- --- PASS NAT8B 51471 broad.mit.edu 37 2 73928184 73928184 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:73928184C>T uc002sjk.1 - 2 284 c.249G>A c.(247-249)ACG>ACA p.T83T NM_016347 NP_057431 Q9UHF3 NAT8B_HUMAN N-acetyltransferase 8B 83 N-acetyltransferase. gastrulation with mouth forming second integral to membrane N-acetyltransferase activity 0 CTACATACCGCGTCCAGGGTT 0.552 9 241 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75921419 75921419 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:75921419T>C uc002sno.2 - 6 1098 c.968A>G c.(967-969)TAT>TGT p.Y323C C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Missense_Mutation_p.Y154C|C2orf3_uc010fft.2_5'UTR NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 323 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CATGCTTTTATAGAATTTACA 0.303 115 149 --- --- --- --- PASS IL1F7 27178 broad.mit.edu 37 2 113676172 113676172 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:113676172A>G uc002tij.2 + 5 485 c.443A>G c.(442-444)GAA>GGA p.E148G IL1F7_uc002tik.2_Missense_Mutation_p.E127G|IL1F7_uc002til.2_Missense_Mutation_p.E108G|IL1F7_uc002tim.2_Missense_Mutation_p.E87G|IL1F7_uc002tin.2_Missense_Mutation_p.E122G NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 148 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 GCCCAAAAGGAATCAGCACGC 0.532 27 51 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119732098 119732098 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:119732098C>T uc002tln.1 + 6 702 c.570C>T c.(568-570)GGC>GGT p.G190G MARCO_uc010yyf.1_Silent_p.G112G NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 190 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 CCCTTCCAGGCCCCTCGGGAC 0.542 31 25 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125660653 125660653 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:125660653G>C uc002tno.2 + 22 3992 c.3628G>C c.(3628-3630)GTG>CTG p.V1210L CNTNAP5_uc010flu.2_Missense_Mutation_p.V1211L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1210 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TGTGAATGCAGTGACCACGGT 0.522 5 6 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566451 136566451 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:136566451G>T uc002tuu.1 - 8 3477 c.3466C>A c.(3466-3468)CAC>AAC p.H1156N NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1156 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAATGGGGTGAGCAAACCAG 0.567 73 80 --- --- --- --- PASS TBR1 10716 broad.mit.edu 37 2 162280499 162280499 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:162280499G>T uc002ubw.1 + 6 2112 c.1810G>T c.(1810-1812)GCC>TCC p.A604S TBR1_uc010foy.2_Missense_Mutation_p.A317S NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 604 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CGCCGAGGACGCCAAGCCCAA 0.721 3 1 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162804167 162804167 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:162804167T>A uc002ubx.3 + 17 2379 c.2195T>A c.(2194-2196)CTG>CAG p.L732Q SLC4A10_uc002uby.3_Missense_Mutation_p.L702Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.L713Q NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 732 Helical; (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TCTGTGATCCTGTTCTTTTCC 0.433 94 80 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 167760266 167760266 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:167760266C>A uc002udx.2 + 1 292 c.274C>A c.(274-276)CGG>AGG p.R92R XIRP2_uc010fpn.2_Silent_p.R92R|XIRP2_uc010fpo.2_Silent_p.R92R|XIRP2_uc010fpp.2_Silent_p.R92R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGAATATGGTCGGCCAGAAGT 0.522 35 28 --- --- --- --- PASS TLK1 9874 broad.mit.edu 37 2 171863104 171863104 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:171863104G>A uc002ugn.2 - 17 2120 c.1648C>T c.(1648-1650)CTG>TTG p.L550L TLK1_uc002ugo.2_Silent_p.L571L|TLK1_uc002ugp.2_Silent_p.L502L|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.L454L NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 550 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TGTTGCTTCAGATAGAAATCC 0.338 87 78 --- --- --- --- PASS HOXD1 3231 broad.mit.edu 37 2 177054177 177054177 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:177054177G>C uc002ukv.3 + 1 871 c.648G>C c.(646-648)AAG>AAC p.K216N HOXD1_uc010fqy.2_Missense_Mutation_p.K216N|HOXD1_uc010zez.1_Missense_Mutation_p.K216N NM_024501 NP_078777 Q9GZZ0 HXD1_HUMAN homeobox D1 216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) ATGCCTCTAAGAAAGGTAAGT 0.652 19 15 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179436113 179436113 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:179436113C>G uc010zfg.1 - 275 67266 c.67042G>C c.(67042-67044)GTT>CTT p.V22348L uc002umo.2_Intron|uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V16043L|TTN_uc010zfi.1_Missense_Mutation_p.V15976L|TTN_uc010zfj.1_Missense_Mutation_p.V15851L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23275 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) AGTGTGACAACTGGAGTGCCA 0.468 52 145 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179634606 179634606 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:179634606A>T uc010zfg.1 - 37 8926 c.8702T>A c.(8701-8703)TTT>TAT p.F2901Y TTN_uc010zfh.1_Missense_Mutation_p.F2855Y|TTN_uc010zfi.1_Missense_Mutation_p.F2855Y|TTN_uc010zfj.1_Missense_Mutation_p.F2855Y|TTN_uc002unb.2_Missense_Mutation_p.F2901Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2901 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) CTCACACTCAAAAGAGGCAGT 0.388 64 158 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183822296 183822296 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:183822296A>G uc002upc.2 - 19 2312 c.1910T>C c.(1909-1911)ATC>ACC p.I637T NCKAP1_uc002upb.2_Missense_Mutation_p.I643T NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 637 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGCTTGACTGATAGTTTTGGC 0.378 82 68 --- --- --- --- PASS NRP2 8828 broad.mit.edu 37 2 206628623 206628623 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:206628623G>A uc002vaw.2 + 13 3061 c.2270G>A c.(2269-2271)GGG>GAG p.G757E NRP2_uc002vau.2_Missense_Mutation_p.G757E|NRP2_uc002vav.2_Missense_Mutation_p.G757E|NRP2_uc002vax.2_Missense_Mutation_p.G757E|NRP2_uc002vay.2_Missense_Mutation_p.G757E NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 757 Extracellular (Potential).|MAM. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 TGGAAGCACGGGCGGATCATC 0.612 OREG0015155 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 44 --- --- --- --- PASS PLEKHM3 389072 broad.mit.edu 37 2 208866361 208866361 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:208866361C>T uc002vcl.2 - 2 493 c.3G>A c.(1-3)ATG>ATA p.M1I PLEKHM3_uc002vcm.2_Missense_Mutation_p.M1I NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 1 intracellular signal transduction metal ion binding ovary(1) 1 CCAAAGCTTCCATGTCACAGG 0.478 86 72 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211447374 211447374 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:211447374C>A uc002vee.3 + 6 694 c.562C>A c.(562-564)CAG>AAG p.Q188K CPS1_uc010fur.2_Missense_Mutation_p.Q194K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 188 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATTTGAAGGTCAGCCTGTGGA 0.348 68 61 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211502530 211502530 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:211502530T>G uc002vee.3 + 22 2924 c.2792T>G c.(2791-2793)CTG>CGG p.L931R CPS1_uc010fur.2_Missense_Mutation_p.L937R|CPS1_uc010fus.2_Missense_Mutation_p.L480R NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 931 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACAAGGGAGCTGAGGTTAAAG 0.473 58 57 --- --- --- --- PASS USP37 57695 broad.mit.edu 37 2 219350415 219350415 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:219350415C>A uc002vie.2 - 16 2095 c.1642G>T c.(1642-1644)GTC>TTC p.V548F USP37_uc010fvs.1_Missense_Mutation_p.V548F|USP37_uc010zkf.1_Missense_Mutation_p.V548F|USP37_uc002vif.2_Missense_Mutation_p.V548F|USP37_uc002vig.2_Missense_Mutation_p.V476F NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 548 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTGTGCCTGACAAGAGCACAC 0.338 68 46 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227915752 227915752 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:227915752G>T uc010zlt.1 - 33 3745 c.3091C>A c.(3091-3093)CCT>ACT p.P1031T NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1031 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GAGCCTGGAGGGCCTGGGGGT 0.567 114 89 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227973298 227973298 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:227973298G>A uc010zlt.1 - 12 1388 c.734C>T c.(733-735)CCG>CTG p.P245L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 245 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AATTCTTACCGGGTCTCCCAT 0.418 54 128 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228883190 228883190 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:228883190T>C uc002vpq.2 - 7 2427 c.2380A>G c.(2380-2382)AAA>GAA p.K794E SPHKAP_uc002vpp.2_Missense_Mutation_p.K794E|SPHKAP_uc010zlx.1_Missense_Mutation_p.K794E NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 794 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGTCTTGTTTTGAATACATG 0.483 355 269 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238249727 238249727 + Missense_Mutation SNP G T T rs114806654 by1000genomes TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:238249727G>T uc002vwl.2 - 38 8117 c.7832C>A c.(7831-7833)GCG>GAG p.A2611E COL6A3_uc002vwo.2_Missense_Mutation_p.A2405E|COL6A3_uc010znj.1_Missense_Mutation_p.A2004E|COL6A3_uc002vwj.2_5'UTR NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2611 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTCCCTGCCGCTCTCCTGTC 0.512 106 63 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10392220 10392220 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:10392220C>A uc003bvt.2 - 15 2617 c.2178G>T c.(2176-2178)ACG>ACT p.T726T ATP2B2_uc003bvv.2_Silent_p.T681T|ATP2B2_uc003bvw.2_Silent_p.T681T|ATP2B2_uc010hdo.2_Silent_p.T431T NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 726 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCATGCGGACCGTGATGCCTG 0.652 42 14 --- --- --- --- PASS LRRC2 79442 broad.mit.edu 37 3 46569047 46569047 + Silent SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:46569047G>C uc010hji.2 - 7 1162 c.798C>G c.(796-798)CTC>CTG p.L266L LRRC2_uc003cpu.3_Silent_p.L266L NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 266 LRR 7. ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) TTTTATACAAGAGAAAGCTCT 0.418 37 13 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49691379 49691379 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:49691379C>T uc003cxe.3 + 5 4504 c.4390C>T c.(4390-4392)CCT>TCT p.P1464S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1464 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGGTGGCACTCCTCAGCCTTC 0.612 88 19 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118866052 118866052 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:118866052A>T uc003ecb.1 + 1 1056 c.1016A>T c.(1015-1017)CAC>CTC p.H339L IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.H339L NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 339 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) GACAATGCTCACTACACTGAA 0.468 29 55 --- --- --- --- PASS POPDC2 64091 broad.mit.edu 37 3 119361403 119361403 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:119361403T>C uc003ecx.1 - 4 1149 c.1015A>G c.(1015-1017)AGA>GGA p.R339G POPDC2_uc010hqw.1_3'UTR|POPDC2_uc003ecy.1_3'UTR NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN popeye protein 2 339 R -> K (in Ref. 1; AAG23406). integral to membrane central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.242) AGAGGAATTCTAGAAGCTGTG 0.428 49 65 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121417551 121417551 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:121417551C>A uc003eei.3 - 13 1930 c.1804G>T c.(1804-1806)GAG>TAG p.E602* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E607*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E568*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E488*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E566* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 602 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CCCTCACCCTCCATCTGTTTC 0.413 90 172 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121417552 121417552 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:121417552C>G uc003eei.3 - 13 1929 c.1803G>C c.(1801-1803)ATG>ATC p.M601I GOLGB1_uc010hrc.2_Missense_Mutation_p.M606I|GOLGB1_uc003eej.3_Missense_Mutation_p.M567I|GOLGB1_uc011bjm.1_Missense_Mutation_p.M487I|GOLGB1_uc010hrd.1_Missense_Mutation_p.M565I NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 601 Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CCTCACCCTCCATCTGTTTCA 0.413 92 172 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124397156 124397156 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:124397156T>C uc003ehg.2 + 50 7440 c.7313T>C c.(7312-7314)GTT>GCT p.V2438A KALRN_uc003ehk.2_Missense_Mutation_p.V741A NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2437 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AAAGTCTCTGTTAAAGTGAGT 0.498 53 64 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130311403 130311403 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:130311403G>A uc010htl.2 + 13 4322 c.4291G>A c.(4291-4293)GGA>AGA p.G1431R COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1431 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AGGAGCCCCTGGACCAGTGGG 0.408 16 24 --- --- --- --- PASS PLSCR5 389158 broad.mit.edu 37 3 146307484 146307484 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:146307484C>T uc003ewb.2 - 6 1737 c.733G>A c.(733-735)GAT>AAT p.D245N PLSCR5_uc010hvb.2_Missense_Mutation_p.D233N|PLSCR5_uc010hvc.2_Missense_Mutation_p.D245N NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 245 0 ACTGTTACATCTAGATCTGCA 0.383 137 237 --- --- --- --- PASS HPS3 84343 broad.mit.edu 37 3 148885004 148885004 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:148885004C>G uc003ewu.1 + 15 2913 c.2773C>G c.(2773-2775)CAT>GAT p.H925D CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.H760D|HPS3_uc003ewv.1_RNA NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 925 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) ATATGCTAATCATGAACTGAA 0.353 Hermansky-Pudlak_syndrome 34 174 --- --- --- --- PASS PTX3 5806 broad.mit.edu 37 3 157160481 157160481 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:157160481G>C uc003fbl.3 + 3 1002 c.859G>C c.(859-861)GGT>CGT p.G287R VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 287 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GTGGGTAAATGGTGAACTGGC 0.542 47 179 --- --- --- --- PASS IFT80 57560 broad.mit.edu 37 3 160037573 160037573 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:160037573G>C uc011boy.1 - 9 1365 c.932C>G c.(931-933)ACA>AGA p.T311R IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.T174R|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_Missense_Mutation_p.T174R NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 311 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTCGTTAATGTTACTTGAAA 0.373 59 325 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160253340 160253340 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:160253340T>C uc003fdn.2 - 5 554 c.248A>G c.(247-249)GAT>GGT p.D83G NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 83 ARM 1; truncated. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCCTTGGTTATCACTTGAAGC 0.308 89 27 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164735787 164735787 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:164735787C>A uc003fei.2 - 29 3553 c.3491G>T c.(3490-3492)GGT>GTT p.G1164V NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1164 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGAAAACACCATGAGCATT 0.318 HNSCC(35;0.089) 55 239 --- --- --- --- PASS EIF5A2 56648 broad.mit.edu 37 3 170624845 170624845 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:170624845T>G uc003fhd.2 - 3 333 c.203A>C c.(202-204)AAA>ACA p.K68T NM_020390 NP_065123 Q9GZV4 IF5A2_HUMAN eIF-5A2 protein 68 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity 0 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) ATCTTCATATTTTTTGCCCGT 0.343 54 255 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170843853 170843853 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:170843853C>T uc003fhh.2 - 17 2206 c.1861G>A c.(1861-1863)GGG>AGG p.G621R TNIK_uc003fhi.2_Missense_Mutation_p.G566R|TNIK_uc003fhj.2_Missense_Mutation_p.G592R|TNIK_uc003fhk.2_Missense_Mutation_p.G621R|TNIK_uc003fhl.2_Missense_Mutation_p.G537R|TNIK_uc003fhm.2_Missense_Mutation_p.G566R|TNIK_uc003fhn.2_Missense_Mutation_p.G592R|TNIK_uc003fho.2_Missense_Mutation_p.G537R NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 621 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCCTGAAACCCAGAGAGGCCC 0.572 52 363 --- --- --- --- PASS CHRD 8646 broad.mit.edu 37 3 184105818 184105818 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:184105818C>T uc003fov.2 + 20 2797 c.2551C>T c.(2551-2553)CCA>TCA p.P851S CHRD_uc003fow.2_Missense_Mutation_p.P481S|CHRD_uc003fox.2_Missense_Mutation_p.P851S|CHRD_uc003foy.2_Missense_Mutation_p.P481S|CHRD_uc010hyc.2_Missense_Mutation_p.P441S|CHRD_uc011brr.1_Missense_Mutation_p.P393S NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 851 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAAACAGTGTCCAGGTGAGAG 0.602 14 75 --- --- --- --- PASS KNG1 3827 broad.mit.edu 37 3 186450437 186450437 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:186450437G>T uc011bsa.1 + 7 1116 c.904G>T c.(904-906)GAC>TAC p.D302Y KNG1_uc003fqr.2_Missense_Mutation_p.D302Y NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 302 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TTTCAAGATTGACAATGTGAA 0.398 108 597 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186937970 186937970 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:186937970C>T uc003frh.1 - 16 2321 c.1989G>A c.(1987-1989)GTG>GTA p.V663V NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 663 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACACAGTGCCCACCAGGTACC 0.562 OREG0015972 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 169 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47667114 47667114 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:47667114G>A uc003gxm.2 - 11 1617 c.1524C>T c.(1522-1524)TTC>TTT p.F508F CORIN_uc011bzf.1_Silent_p.F369F|CORIN_uc011bzg.1_Silent_p.F441F|CORIN_uc011bzh.1_Silent_p.F471F|CORIN_uc011bzi.1_Silent_p.F471F NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 508 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TGCAAGAAAAGAACATGAGGT 0.418 53 87 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57248730 57248730 + Silent SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:57248730G>T uc003hbn.2 - 3 417 c.264C>A c.(262-264)ATC>ATA p.I88I AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Intron|AASDH_uc003hbo.2_5'UTR|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.I88I|AASDH_uc003hbp.2_Silent_p.I88I|AASDH_uc003hbq.1_Silent_p.I88I NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 88 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AATCTGGCTCGATAGGTACAT 0.323 3 48 --- --- --- --- PASS UGT2B10 7365 broad.mit.edu 37 4 69696583 69696583 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:69696583G>T uc003hee.2 + 6 1598 c.1573G>T c.(1573-1575)GGA>TGA p.G525* UGT2B10_uc011cam.1_Nonsense_Mutation_p.G441* NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 525 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 AGGAAAGAAGGGAAAAAGGGA 0.378 35 295 --- --- --- --- PASS UGT2B10 7365 broad.mit.edu 37 4 69696584 69696584 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:69696584G>T uc003hee.2 + 6 1599 c.1574G>T c.(1573-1575)GGA>GTA p.G525V UGT2B10_uc011cam.1_Missense_Mutation_p.G441V NM_001075 NP_001066 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2B10 isoform 1 525 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GGAAAGAAGGGAAAAAGGGAT 0.378 38 290 --- --- --- --- PASS RUFY3 22902 broad.mit.edu 37 4 71628293 71628293 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:71628293G>T uc003hfq.2 + 2 831 c.236G>T c.(235-237)AGT>ATT p.S79I RUFY3_uc003hfp.3_Missense_Mutation_p.S139I|RUFY3_uc011cax.1_Missense_Mutation_p.S97I|RUFY3_uc003hfr.2_Missense_Mutation_p.S79I|RUFY3_uc011cay.1_Missense_Mutation_p.S15I NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 79 negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) GCCAAGCTGAGTATCAAGGGC 0.468 170 793 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73280574 73280574 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:73280574C>G uc003hgk.1 - 4 656 c.619G>C c.(619-621)GAA>CAA p.E207Q NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 207 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAGCCTGTTCTACAGCTGAT 0.363 70 349 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79301038 79301038 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:79301038C>A uc003hlb.2 + 27 3891 c.3451C>A c.(3451-3453)CTA>ATA p.L1151I FRAS1_uc003hkw.2_Missense_Mutation_p.L1151I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1150 CSPG 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CAATGGTCAGCTAGTGCTCTC 0.473 35 183 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91230018 91230018 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:91230018G>T uc003hsv.3 + 2 923 c.583G>T c.(583-585)GTT>TTT p.V195F FAM190A_uc003hsu.3_Missense_Mutation_p.V195F|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.V195F NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 195 large_intestine(1)|ovary(1) 2 TTCTAAGCCAGTTCTACAGAG 0.398 74 61 --- --- --- --- PASS DDIT4L 115265 broad.mit.edu 37 4 101109190 101109190 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:101109190A>G uc003hvq.2 - 3 429 c.226T>C c.(226-228)TCA>CCA p.S76P NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 76 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) AGGACCTTTGAGCAACCAAGT 0.463 5 203 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122250738 122250738 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:122250738C>T uc010inj.1 - 6 1406 c.1027G>A c.(1027-1029)GTT>ATT p.V343I QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 343 Cytoplasmic (Potential). plasma membrane neuropeptide Y receptor activity 0 GCAGACAAAACATTTTTTTTG 0.328 67 22 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125593263 125593263 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:125593263T>C uc003ifg.3 - 3 1435 c.1169A>G c.(1168-1170)GAT>GGT p.D390G ANKRD50_uc011cgo.1_Missense_Mutation_p.D211G|ANKRD50_uc010inw.2_Missense_Mutation_p.D390G NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 390 central_nervous_system(1) 1 GGAGAGGATATCTAACTTGCG 0.393 6 183 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126237699 126237699 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:126237699C>T uc003ifj.3 + 1 133 c.133C>T c.(133-135)CCG>TCG p.P45S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 45 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CGGGGCCGAGCCGCGCCAGGT 0.622 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G C C rs149680468 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 Mis|N|D|F colorectal|endometrial|T-ALL 78 21 --- --- --- --- PASS NPY1R 4886 broad.mit.edu 37 4 164246622 164246622 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:164246622C>G uc003iqm.1 - 3 1254 c.988G>C c.(988-990)GAC>CAC p.D330H NPY1R_uc011cjj.1_Missense_Mutation_p.D87H NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 330 Cytoplasmic (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AACTGCAAGTCTCTCTGGAAG 0.423 79 27 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176556084 176556084 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:176556084G>T uc003iuf.2 - 7 1613 c.809C>A c.(808-810)TCC>TAC p.S270Y GPM6A_uc011ckj.1_Missense_Mutation_p.S263Y|GPM6A_uc003iug.2_Missense_Mutation_p.S270Y|GPM6A_uc003iuh.2_Missense_Mutation_p.S259Y NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 270 Cytoplasmic (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCGCTCTTTGGAGCGAGTAGA 0.468 62 24 --- --- --- --- PASS HELT 391723 broad.mit.edu 37 4 185940564 185940564 + Silent SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr4:185940564G>C uc011ckq.1 + 2 183 c.183G>C c.(181-183)GTG>GTC p.V61V HELT_uc011cko.1_Silent_p.V17V|HELT_uc003ixa.3_Silent_p.V17V|HELT_uc011ckp.1_5'UTR NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 61 Basic motif. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTCATAAAGTGATAGAAAAGC 0.572 12 2 --- --- --- --- PASS SRD5A1 6715 broad.mit.edu 37 5 6652021 6652021 + Silent SNP G A A rs142854865 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:6652021G>A uc003jdw.2 + 2 550 c.360G>A c.(358-360)GCG>GCA p.A120A SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Intron NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 120 Helical; (Potential). androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) GTACAATGGCGATTATGTTCT 0.423 87 67 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11199612 11199612 + Silent SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:11199612C>G uc003jfa.1 - 11 2068 c.1923G>C c.(1921-1923)CTG>CTC p.L641L CTNND2_uc010itt.2_Silent_p.L550L|CTNND2_uc011cmy.1_Silent_p.L304L|CTNND2_uc011cmz.1_Silent_p.L208L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L208L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 641 ARM 4. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTAACCTCACCAGTGCTGGGA 0.453 92 86 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24535284 24535284 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:24535284C>G uc003jgr.1 - 5 1083 c.751G>C c.(751-753)GGG>CGG p.G251R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 251 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GTGGTTGTCCCCGATAAGCCT 0.512 HNSCC(23;0.051) 40 78 --- --- --- --- PASS AMACR 23600 broad.mit.edu 37 5 34004781 34004781 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:34004781C>A uc003jig.2 - 3 532 c.450G>T c.(448-450)CTG>CTT p.L150L AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Silent_p.L150L|AMACR_uc003jij.2_Silent_p.L150L|AMACR_uc003jil.1_Silent_p.L150L|AMACR_uc003jik.1_Intron NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 150 L -> V (in Ref. 1; CAB44062). bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 CAAAGTCAGCCAGGAGATTCA 0.428 31 86 --- --- --- --- PASS LMBRD2 92255 broad.mit.edu 37 5 36122994 36122994 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:36122994T>C uc003jkb.1 - 8 1307 c.892A>G c.(892-894)AGT>GGT p.S298G NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 298 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGATAGATACTATGCTTTTCA 0.254 28 43 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41143068 41143068 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:41143068G>T uc003jmk.2 - 18 2874 c.2664C>A c.(2662-2664)TGC>TGA p.C888* C6_uc003jml.1_Nonsense_Mutation_p.C888* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 888 Complement control factor I module 2.|C5b-binding domain.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACCCTTGAAGCACTGTGGGG 0.433 34 67 --- --- --- --- PASS ATG10 83734 broad.mit.edu 37 5 81549141 81549141 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:81549141A>G uc003khs.2 + 8 989 c.560A>G c.(559-561)AAC>AGC p.N187S ATG10_uc003khr.2_Missense_Mutation_p.N187S|ATG10_uc010jas.2_Missense_Mutation_p.N151S NM_001131028 NP_001124500 Q9H0Y0 ATG10_HUMAN APG10 autophagy 10-like 187 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding 0 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) AGGAATGTCAACTATATCACA 0.423 52 62 --- --- --- --- PASS HAPLN1 1404 broad.mit.edu 37 5 82937507 82937507 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:82937507C>A uc003kim.2 - 4 944 c.873G>T c.(871-873)CAG>CAT p.Q291H HAPLN1_uc003kin.2_Missense_Mutation_p.Q291H NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 291 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CAGCAAATATCTGGCCCACTT 0.532 89 236 --- --- --- --- PASS MCTP1 79772 broad.mit.edu 37 5 94224657 94224657 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:94224657G>T uc003kkx.2 - 12 1860 c.1860C>A c.(1858-1860)CAC>CAA p.H620Q MCTP1_uc003kkv.2_Missense_Mutation_p.H399Q|MCTP1_uc003kkw.2_Missense_Mutation_p.H353Q|MCTP1_uc003kkz.2_Missense_Mutation_p.H281Q|MCTP1_uc003kku.2_Missense_Mutation_p.H136Q NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 620 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTTTCAGGTTGTGAAATATCC 0.438 66 53 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101599460 101599460 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:101599460A>G uc003knm.2 - 4 1114 c.827T>C c.(826-828)TTA>TCA p.L276S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 276 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGCAGGGCCTAAGATTGACAT 0.368 77 61 --- --- --- --- PASS GIN1 54826 broad.mit.edu 37 5 102440247 102440247 + Nonsense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:102440247G>A uc003koa.1 - 4 719 c.637C>T c.(637-639)CAG>TAG p.Q213* GIN1_uc003kob.1_Nonsense_Mutation_p.Q66*|GIN1_uc003koc.1_Nonsense_Mutation_p.Q213* NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 213 Integrase catalytic. DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGTCTTACCTGTTGAATGAAT 0.338 8 28 --- --- --- --- PASS TSLP 85480 broad.mit.edu 37 5 110407609 110407609 + Silent SNP A G G rs149732987 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:110407609A>G uc003kpb.2 + 1 220 c.21A>G c.(19-21)CTA>CTG p.L7L TSLP_uc003kpa.2_Intron|TSLP_uc010jbt.1_5'Flank NM_033035 NP_149024 Q969D9 TSLP_HUMAN thymic stromal lymphopoietin isoform 1 7 MFPFALLYVLS -> MKCLGQSKKEE (in Ref. 3; AAH40592). extracellular space cytokine activity 0 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) TTGCCTTACTATATGTTCTGT 0.418 119 77 --- --- --- --- PASS WDR36 134430 broad.mit.edu 37 5 110443093 110443093 + Nonsense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:110443093C>G uc003kpd.2 + 12 1566 c.1449C>G c.(1447-1449)TAC>TAG p.Y483* WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 483 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TAGGCGCTTACTTTCTCAAGC 0.383 48 33 --- --- --- --- PASS IL3 3562 broad.mit.edu 37 5 131396427 131396427 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:131396427C>T uc003kwe.1 + 1 81 c.28C>T c.(28-30)CTC>TTC p.L10F NM_000588 NP_000579 P08700 IL3_HUMAN interleukin 3 precursor 10 cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding ovary(2)|central_nervous_system(1) 3 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) CCTGCTCCTGCTCCAACTCCT 0.567 46 12 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161318025 161318025 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:161318025C>A uc010jiw.2 + 9 1293 c.825C>A c.(823-825)AAC>AAA p.N275K GABRA1_uc010jix.2_Missense_Mutation_p.N275K|GABRA1_uc010jiy.2_Missense_Mutation_p.N275K|GABRA1_uc003lyx.3_Missense_Mutation_p.N275K|GABRA1_uc010jiz.2_Missense_Mutation_p.N275K|GABRA1_uc010jja.2_Missense_Mutation_p.N275K|GABRA1_uc010jjb.2_Missense_Mutation_p.N275K NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 275 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TCTGGCTCAACAGAGAGTCTG 0.413 55 24 --- --- --- --- PASS BNIP1 662 broad.mit.edu 37 5 172585748 172585748 + Missense_Mutation SNP A C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr5:172585748A>C uc003mcj.3 + 4 375 c.271A>C c.(271-273)AAT>CAT p.N91H BNIP1_uc003mci.3_Missense_Mutation_p.N134H|BNIP1_uc003mck.3_Intron|BNIP1_uc003mcl.3_Intron NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 91 Cytoplasmic (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAATTCCAGCAATCAGGCCTC 0.478 33 11 --- --- --- --- PASS FAM8A1 51439 broad.mit.edu 37 6 17600920 17600920 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:17600920G>C uc003ncc.2 + 1 403 c.280G>C c.(280-282)GAG>CAG p.E94Q NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 94 integral to membrane 0 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) GGCGGGCTGCGAGGCGCCCGA 0.731 10 1 --- --- --- --- PASS LRRC16A 55604 broad.mit.edu 37 6 25471400 25471400 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:25471400A>G uc011djw.1 + 10 1070 c.694A>G c.(694-696)ACT>GCT p.T232A LRRC16A_uc010jpx.2_Missense_Mutation_p.T232A|LRRC16A_uc010jpy.2_Missense_Mutation_p.T232A|LRRC16A_uc003nez.1_Missense_Mutation_p.T71A NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 232 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GTTACAGTCCACTGATGTCTG 0.348 106 14 --- --- --- --- PASS MAS1L 116511 broad.mit.edu 37 6 29455059 29455059 + Silent SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:29455059T>C uc011dlq.1 - 1 621 c.621A>G c.(619-621)GTA>GTG p.V207V NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 207 Helical; Name=4; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 AAAGTGATTTTACTATGTTGA 0.438 98 11 --- --- --- --- PASS TNF 7124 broad.mit.edu 37 6 31544973 31544973 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:31544973G>A uc003nui.2 + 4 530 c.361G>A c.(361-363)GAT>AAT p.D121N TNF_uc003nuj.2_5'UTR NM_000594 NP_000585 P01375 TNFA_HUMAN tumor necrosis factor alpha 121 Extracellular (Potential). activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding ovary(1)|pancreas(1)|skin(1) 3 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) GGAGCTGAGAGATAACCAGCT 0.632 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 19 220 --- --- --- --- PASS OPN5 221391 broad.mit.edu 37 6 47775994 47775994 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:47775994C>A uc003ozc.2 + 5 866 c.861C>A c.(859-861)CTC>CTA p.L287L OPN5_uc003ozd.2_Silent_p.L122L NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 287 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 CCATACAGCTCTCTGTGGTGC 0.458 314 47 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70972972 70972972 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:70972972C>G uc003pfg.3 - 19 1529 c.1370G>C c.(1369-1371)GGA>GCA p.G457A COL9A1_uc003pfe.3_Missense_Mutation_p.G30A|COL9A1_uc003pff.3_Missense_Mutation_p.G214A NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 457 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TCCAACTTCTCCGAGTTCTCC 0.328 30 7 --- --- --- --- PASS IBTK 25998 broad.mit.edu 37 6 82909857 82909857 + Splice_Site SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:82909857C>A uc003pjl.1 - 21 3552 c.3025_splice c.e21+1 p.G1009_splice IBTK_uc011dyu.1_Splice_Site|IBTK_uc011dyv.1_Splice_Site_p.E1009_splice|IBTK_uc011dyw.1_Splice_Site_p.G808_splice|IBTK_uc010kbi.1_Splice_Site_p.G703_splice|IBTK_uc003pjm.2_Splice_Site_p.G1009_splice NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TTTCCACGAACCTGTAGATGA 0.378 114 67 --- --- --- --- PASS LTV1 84946 broad.mit.edu 37 6 144181587 144181587 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:144181587G>A uc003qjs.2 + 7 927 c.820G>A c.(820-822)GAA>AAA p.E274K LTV1_uc003qju.1_Missense_Mutation_p.E59K|C6orf94_uc010khj.2_5'UTR NM_032860 NP_116249 Q96GA3 LTV1_HUMAN LTV1 homolog 274 ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) TGATGATGATGAAATTGGAGC 0.328 109 41 --- --- --- --- PASS FBXO30 84085 broad.mit.edu 37 6 146127417 146127417 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:146127417T>A uc003qla.2 - 2 324 c.125A>T c.(124-126)CAT>CTT p.H42L uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 42 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) TTTACAAGAATGGAAAACTGC 0.433 111 31 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165832185 165832185 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr6:165832185G>T uc003qun.2 - 12 1147 c.906C>A c.(904-906)GAC>GAA p.D302E PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.D232E|PDE10A_uc003quo.2_Missense_Mutation_p.D312E NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 302 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TATCAAAAAGGTCTGAATATA 0.388 56 22 --- --- --- --- PASS DAGLB 221955 broad.mit.edu 37 7 6487437 6487437 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:6487437T>C uc003sqa.2 - 1 207 c.37A>G c.(37-39)ATC>GTC p.I13V DAGLB_uc011jwu.1_Missense_Mutation_p.I13V|DAGLB_uc003sqb.2_5'UTR|DAGLB_uc003sqc.2_5'UTR|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Intron|DAGLB_uc011jww.1_RNA NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 13 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TCGCTGGCGATGGCCCAGCGC 0.672 14 11 --- --- --- --- PASS TMEM106B 54664 broad.mit.edu 37 7 12258089 12258089 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:12258089G>A uc011jxk.1 + 4 623 c.223G>A c.(223-225)GAA>AAA p.E75K TMEM106B_uc003ssh.2_Missense_Mutation_p.E75K NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 75 integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) TTTAGGGCAAGAAAACCAACT 0.338 35 62 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21737761 21737761 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:21737761T>A uc003svc.2 + 37 6162 c.6131T>A c.(6130-6132)GTG>GAG p.V2044E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2044 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GAAGGTTTTGTGGATGCGCGT 0.413 Kartagener_syndrome 39 45 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33192390 33192390 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:33192390C>G uc003tdn.1 + 3 703 c.190C>G c.(190-192)CAA>GAA p.Q64E BBS9_uc003tdo.1_Missense_Mutation_p.Q64E|BBS9_uc003tdp.1_Missense_Mutation_p.Q64E|BBS9_uc003tdq.1_Missense_Mutation_p.Q64E|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.Q64E NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 64 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AGATGGAGCTCAAGCCGAAGA 0.383 Bardet-Biedl_syndrome 64 96 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43519310 43519310 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:43519310C>G uc003tid.1 + 17 3806 c.3201C>G c.(3199-3201)CAC>CAG p.H1067Q HECW1_uc011kbi.1_Missense_Mutation_p.H1033Q NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1067 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 ACCGACAGCACCTCCAGAGGC 0.552 126 180 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82579563 82579563 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:82579563C>A uc003uhx.2 - 6 10630 c.10341G>T c.(10339-10341)ACG>ACT p.T3447T PCLO_uc003uhv.2_Silent_p.T3447T|PCLO_uc010lec.2_Silent_p.T412T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3378 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CTTCGTCATCCGTTTGTACAC 0.438 53 86 --- --- --- --- PASS TECPR1 25851 broad.mit.edu 37 7 97860615 97860615 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:97860615G>T uc003upg.2 - 14 2250 c.2045C>A c.(2044-2046)GCC>GAC p.A682D TECPR1_uc003uph.1_Missense_Mutation_p.A612D NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 682 PH. integral to membrane protein binding pancreas(1) 1 GGTGTACAGGGCAAAGGAGTG 0.617 11 21 --- --- --- --- PASS C7orf52 375607 broad.mit.edu 37 7 100815720 100815720 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:100815720C>A uc003uxy.1 - 4 989 c.750G>T c.(748-750)CGG>CGT p.R250R C7orf52_uc003uxz.1_Silent_p.R250R NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 250 N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) TTTCGCTAGGCCGGTAGGGCT 0.731 6 10 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106509091 106509091 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:106509091G>C uc003vdv.3 + 2 1170 c.1085G>C c.(1084-1086)AGG>ACG p.R362T PIK3CG_uc003vdu.2_Missense_Mutation_p.R362T|PIK3CG_uc003vdw.2_Missense_Mutation_p.R362T NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 362 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CGCAAGTTCAGGGTCAAGATC 0.562 71 116 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107353040 107353040 + Silent SNP G T T rs139556627 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:107353040G>T uc003vep.2 + 20 2516 c.2292G>T c.(2290-2292)ACG>ACT p.T764T SLC26A4_uc011kmb.1_Silent_p.T351T|SLC26A4_uc011kmc.1_Silent_p.T325T|SLC26A4_uc011kmd.1_Silent_p.T333T NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 764 Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 CAGAGCTGACGGAAGAAGAAC 0.323 Pendred_syndrome 53 76 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 120386051 120386051 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:120386051G>C uc003vjj.1 + 5 2650 c.1685G>C c.(1684-1686)AGA>ACA p.R562T NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 562 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) ATTCAGATCAGATGTGTGGAG 0.453 39 64 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128486185 128486185 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:128486185C>T uc003vnz.3 + 22 4141 c.3932C>T c.(3931-3933)ACC>ATC p.T1311I FLNC_uc003voa.3_Missense_Mutation_p.T1311I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1311 Filamin 11. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGGGACGGCACCTACCGAGTG 0.637 35 35 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133859319 133859319 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:133859319G>A uc003vrm.1 + 8 967 c.951G>A c.(949-951)CTG>CTA p.L317L NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 317 LRR 9. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 TTGCTGAGCTGAGAGAAATAG 0.333 65 98 --- --- --- --- PASS TRIM24 8805 broad.mit.edu 37 7 138255744 138255744 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:138255744C>T uc003vuc.2 + 11 2089 c.1874C>T c.(1873-1875)CCG>CTG p.P625L TRIM24_uc003vub.2_Missense_Mutation_p.P591L NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 625 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 CCCTCTCTTCCGGATGTAAGT 0.308 98 149 --- --- --- --- PASS TAS2R40 259286 broad.mit.edu 37 7 142919923 142919923 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:142919923A>G uc011ksx.1 + 1 752 c.752A>G c.(751-753)TAC>TGC p.Y251C NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 251 Helical; Name=6; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) GCCACCAGCTACTTTCTCATC 0.468 114 143 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147815229 147815229 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr7:147815229C>A uc003weu.1 + 16 2919 c.2403C>A c.(2401-2403)GCC>GCA p.A801A NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 801 Laminin G-like 3.|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) GGAATGCCGCCTCTTTCCCAA 0.448 HNSCC(39;0.1) 91 108 --- --- --- --- PASS DEFA4 1669 broad.mit.edu 37 8 6793613 6793613 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:6793613T>G uc003wqu.1 - 3 274 c.223A>C c.(223-225)ACA>CCA p.T75P NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 75 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CGAAGTTCTGTTCGCCGGCAG 0.507 76 34 --- --- --- --- PASS SPAG11B 10407 broad.mit.edu 37 8 7308655 7308655 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:7308655C>A uc003wrk.2 - 3 448 c.281G>T c.(280-282)AGA>ATA p.R94I SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Missense_Mutation_p.R41I|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron NM_016512 NP_057596 Q08648 SG11B_HUMAN sperm associated antigen 11B isoform A 94 spermatogenesis extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CCTGGCCCATCTAGGCCCTAA 0.443 30 86 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10468457 10468457 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:10468457C>T uc003wtc.2 - 4 3380 c.3151G>A c.(3151-3153)GTT>ATT p.V1051I NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1051 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCCTCGGAAACTCCCTCTGGA 0.692 27 10 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16032698 16032698 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:16032698G>T uc003wwz.2 - 3 413 c.215C>A c.(214-216)GCA>GAA p.A72E MSR1_uc010lsu.2_Missense_Mutation_p.A90E|MSR1_uc003wxa.2_Missense_Mutation_p.A72E|MSR1_uc003wxb.2_Missense_Mutation_p.A72E|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 72 Helical; Signal-anchor for type II membrane protein; (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TACGTTACCTGCCACTATTCC 0.418 77 44 --- --- --- --- PASS LZTS1 11178 broad.mit.edu 37 8 20110905 20110905 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:20110905C>G uc003wzr.2 - 2 648 c.537G>C c.(535-537)ATG>ATC p.M179I LZTS1_uc010ltg.1_Missense_Mutation_p.M179I NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 179 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCAGGCTGGACATGGAGTTCC 0.672 16 62 --- --- --- --- PASS HR 55806 broad.mit.edu 37 8 21984877 21984877 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:21984877C>A uc003xas.2 - 3 1743 c.1078G>T c.(1078-1080)GAG>TAG p.E360* HR_uc003xat.2_Nonsense_Mutation_p.E360* NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 360 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TTCACTTCCTCGCTGGGTTCG 0.627 6 259 --- --- --- --- PASS KCTD9 54793 broad.mit.edu 37 8 25315739 25315739 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:25315739C>T uc003xeo.2 - 1 182 c.24G>A c.(22-24)CTG>CTA p.L8L PPP2R2A_uc003xek.2_Intron|CDCA2_uc003xep.1_5'Flank|CDCA2_uc011lae.1_5'Flank|CDCA2_uc003xeq.1_5'Flank NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 8 KHA. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) GGCTGCCGTTCAGGAACAGGG 0.423 6 31 --- --- --- --- PASS GSR 2936 broad.mit.edu 37 8 30539537 30539537 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:30539537C>G uc003xih.1 - 11 1286 c.1195G>C c.(1195-1197)GAA>CAA p.E399Q NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 399 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TCCTTATATTCAAAAAGTCGA 0.388 127 79 --- --- --- --- PASS ADAM32 203102 broad.mit.edu 37 8 39018484 39018484 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:39018484G>A uc003xmt.3 + 7 839 c.594G>A c.(592-594)TTG>TTA p.L198L ADAM32_uc011lch.1_Silent_p.L205L|ADAM32_uc003xmu.3_Silent_p.L198L NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 198 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ACAAAACTTTGGTATGTGTTT 0.323 6 26 --- --- --- --- PASS PLAG1 5324 broad.mit.edu 37 8 57079300 57079300 + Silent SNP C T T rs150353769 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:57079300C>T uc003xsq.3 - 3 1456 c.1005G>A c.(1003-1005)CCG>CCA p.P335P PLAG1_uc003xsr.3_Silent_p.P335P|PLAG1_uc010lyi.2_Silent_p.P335P|PLAG1_uc010lyj.2_Silent_p.P253P NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 335 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TAGAACTGAACGGATATTTGA 0.428 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 132 93 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67579132 67579132 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:67579132G>A uc003xwn.2 - 1 321 c.62C>T c.(61-63)CCA>CTA p.P21L SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 21 Pro-rich. protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CGGAGTCTGTGGAGCCTCAGG 0.532 5 5 --- --- --- --- PASS JPH1 56704 broad.mit.edu 37 8 75227315 75227315 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:75227315T>C uc003yae.2 - 2 960 c.920A>G c.(919-921)GAG>GGG p.E307G JPH1_uc003yaf.2_Missense_Mutation_p.E307G|JPH1_uc003yag.1_Missense_Mutation_p.E171G NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 307 Cytoplasmic (Potential).|MORN 7. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ATTTGCCCACTCCCCTTCATA 0.512 173 104 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77617186 77617186 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:77617186G>T uc003yav.2 + 2 1250 c.863G>T c.(862-864)GGT>GTT p.G288V ZFHX4_uc003yat.1_Missense_Mutation_p.G288V|ZFHX4_uc003yau.1_Missense_Mutation_p.G288V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G288V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGTCTTTTGGTTATATCAGG 0.433 HNSCC(33;0.089) 70 66 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87755792 87755792 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:87755792G>T uc003ydx.2 - 1 110 c.64C>A c.(64-66)CAA>AAA p.Q22K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 22 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 CGAGAACTTTGTTCATTCTCA 0.418 118 71 --- --- --- --- PASS OTUD6B 51633 broad.mit.edu 37 8 92082567 92082567 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:92082567C>G uc003yeu.3 + 1 144 c.45C>G c.(43-45)AGC>AGG p.S15R uc003yet.2_5'Flank|OTUD6B_uc011lgh.1_5'UTR NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B Error:Variant_position_missing_in_Q8N6M0_after_alignment ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) TGCCTACTAGCCGGTGCAGGT 0.617 5 19 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110439382 110439382 + Silent SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:110439382A>T uc003yne.2 + 25 3101 c.2997A>T c.(2995-2997)CTA>CTT p.L999L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 999 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGAATCTTCTACAGGTTCCCT 0.358 HNSCC(38;0.096) 30 24 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110535548 110535548 + Silent SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:110535548T>C uc003yne.2 + 76 12521 c.12417T>C c.(12415-12417)AGT>AGC p.S4139S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4139 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGGCCTTAGTGGAAATACAA 0.403 HNSCC(38;0.096) 39 120 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964728 123964728 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:123964728G>A uc003ypk.1 + 3 1545 c.978G>A c.(976-978)GTG>GTA p.V326V NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 326 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CAGAAGAGGTGGAGGAGGCCC 0.602 35 125 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 124987425 124987425 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:124987425G>A uc003yqw.2 + 8 768 c.562G>A c.(562-564)GAC>AAC p.D188N NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 188 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCTGCTCACAGACCCTGGTGA 0.532 42 121 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133790097 133790097 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:133790097G>T uc003ytt.2 + 2 348 c.23G>T c.(22-24)CGC>CTC p.R8L PHF20L1_uc003ytr.2_Missense_Mutation_p.R8L|PHF20L1_uc010mdv.2_Missense_Mutation_p.R8L|PHF20L1_uc003yts.2_Missense_Mutation_p.R8L|PHF20L1_uc011lja.1_Missense_Mutation_p.R8L|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.R8L NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 8 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CCCCCAAATCGCCCTGGAATC 0.363 97 62 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139163804 139163804 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:139163804C>A uc003yuy.2 - 13 3085 c.2914G>T c.(2914-2916)GTG>TTG p.V972L FAM135B_uc003yux.2_Missense_Mutation_p.V873L|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V534L|FAM135B_uc003yvb.2_Missense_Mutation_p.V534L NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 972 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AAGGCATTCACTCCTCTATTA 0.498 HNSCC(54;0.14) 32 134 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164776 139164776 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:139164776G>T uc003yuy.2 - 13 2113 c.1942C>A c.(1942-1944)CTG>ATG p.L648M FAM135B_uc003yux.2_Missense_Mutation_p.L549M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L210M|FAM135B_uc003yvb.2_Missense_Mutation_p.L210M NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 648 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGCTCCCTCAGGGTAGAACTT 0.483 HNSCC(54;0.14) 111 70 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139323149 139323149 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:139323149C>A uc003yuy.2 - 3 263 c.92G>T c.(91-93)CGA>CTA p.R31L FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 31 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAAGGTCACTCGGATCTGGTA 0.493 HNSCC(54;0.14) 77 59 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139737671 139737671 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:139737671G>T uc003yvd.2 - 24 2599 c.2152C>A c.(2152-2154)CCC>ACC p.P718T COL22A1_uc011ljo.1_Missense_Mutation_p.P18T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 718 Collagen-like 5.|Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACACCAGGGGGTCCTGGAGGG 0.582 HNSCC(7;0.00092) 147 72 --- --- --- --- PASS FLJ43860 389690 broad.mit.edu 37 8 142500317 142500317 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:142500317G>A uc003ywi.2 - 5 678 c.597C>T c.(595-597)CAC>CAT p.H199H FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 199 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCCGCCACGAGTGCCTGCAGA 0.647 20 8 --- --- --- --- PASS ZNF250 58500 broad.mit.edu 37 8 146108175 146108175 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:146108175C>T uc003zeq.3 - 6 525 c.408G>A c.(406-408)AAG>AAA p.K136K COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.K131K|ZNF250_uc010mgg.2_Silent_p.K131K NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AAATTAATGGCTTCGGACTCA 0.383 62 271 --- --- --- --- PASS ZCCHC7 84186 broad.mit.edu 37 9 37126821 37126821 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:37126821G>C uc003zzq.2 + 2 665 c.492G>C c.(490-492)GAG>GAC p.E164D ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.E163D|ZCCHC7_uc010mlt.2_Missense_Mutation_p.E163D|ZCCHC7_uc003zzs.1_Missense_Mutation_p.E163D NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 164 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) AAGAGGAAGAGAGCACCATTT 0.413 128 43 --- --- --- --- PASS C9orf95 54981 broad.mit.edu 37 9 77684836 77684836 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:77684836C>T uc004aju.2 - 5 890 c.292G>A c.(292-294)GAA>AAA p.E98K C9orf95_uc004ajs.3_Missense_Mutation_p.E102K|C9orf95_uc004ajr.3_Missense_Mutation_p.E98K|C9orf95_uc004ajt.3_Missense_Mutation_p.E98K NM_017881 NP_060351 Q9NWW6 NRK1_HUMAN nicotinamide riboside kinase 1 isoform 1 98 E->A: Loss of activity. pyridine nucleotide biosynthetic process ATP binding|metal ion binding|ribosylnicotinamide kinase activity 0 AGAAAACCTTCGATGATTAAA 0.393 72 108 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84603768 84603768 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:84603768C>A uc004amn.2 + 1 82 c.35C>A c.(34-36)ACT>AAT p.T12N NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 12 integral to membrane 0 AACAGCTATACTGAGACAGGG 0.483 82 131 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606980 84606980 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:84606980T>A uc004amn.2 + 4 1642 c.1595T>A c.(1594-1596)TTC>TAC p.F532Y NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 532 integral to membrane 0 TTTGTATTCTTCAATGGCATT 0.483 120 22 --- --- --- --- PASS MURC 347273 broad.mit.edu 37 9 103340680 103340680 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:103340680C>G uc004bba.2 + 1 345 c.255C>G c.(253-255)ATC>ATG p.I85M NM_001018116 NP_001018126 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 85 cell differentiation|muscle organ development|transcription, DNA-dependent ovary(1) 1 Acute lymphoblastic leukemia(62;0.0461) CAGGGCATATCATTAACAAAT 0.388 227 36 --- --- --- --- PASS GSN 2934 broad.mit.edu 37 9 124064369 124064369 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:124064369G>A uc004blf.1 + 2 334 c.273G>A c.(271-273)ACG>ACA p.T91T GSN_uc004bld.1_Silent_p.T40T|GSN_uc010mvq.1_Silent_p.T51T|GSN_uc010mvr.1_Silent_p.T51T|GSN_uc010mvu.1_Silent_p.T40T|GSN_uc010mvt.1_Silent_p.T40T|GSN_uc010mvs.1_Silent_p.T40T|GSN_uc004ble.1_Silent_p.T40T|GSN_uc010mvv.1_Silent_p.T40T|GSN_uc011lyh.1_Silent_p.T57T|GSN_uc011lyi.1_Silent_p.T40T|GSN_uc011lyj.1_Silent_p.T64T NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 91 Actin-severing (Potential).|Gelsolin-like 1. actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 ACTTCTTCACGGGCGACGCCT 0.597 6 224 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139912256 139912256 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:139912256C>G uc011mem.1 - 15 2339 c.2191G>C c.(2191-2193)GAG>CAG p.E731Q ABCA2_uc011mel.1_Missense_Mutation_p.E732Q|ABCA2_uc004ckl.1_Missense_Mutation_p.E662Q|ABCA2_uc004ckm.1_Missense_Mutation_p.E762Q|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 731 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AGCCGGTGCTCCTTCTCCGCC 0.677 29 4 --- --- --- --- PASS ABCA2 20 broad.mit.edu 37 9 139912311 139912311 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr9:139912311C>T uc011mem.1 - 15 2284 c.2136G>A c.(2134-2136)GTG>GTA p.V712V ABCA2_uc011mel.1_Silent_p.V713V|ABCA2_uc004ckl.1_Silent_p.V643V|ABCA2_uc004ckm.1_Silent_p.V743V|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 712 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCCAGGAGATCACCATGCACA 0.572 43 2 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7218019 7218019 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:7218019C>T uc009xio.1 - 17 2008 c.1917G>A c.(1915-1917)TTG>TTA p.L639L SFMBT2_uc001ijn.1_Silent_p.L639L|SFMBT2_uc010qay.1_Silent_p.L474L NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 639 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CAGGACTAAACAAATTTGGAC 0.423 138 118 --- --- --- --- PASS UPF2 26019 broad.mit.edu 37 10 12043711 12043711 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:12043711C>T uc001ila.2 - 5 2092 c.1618G>A c.(1618-1620)GCT>ACT p.A540T UPF2_uc001ilb.2_Missense_Mutation_p.A540T|UPF2_uc001ilc.2_Missense_Mutation_p.A540T|UPF2_uc009xiz.1_Missense_Mutation_p.A540T NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 540 Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) AGATCTTCAGCTTCATCTCCA 0.353 7 52 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12123485 12123485 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:12123485G>T uc001ild.3 + 2 268 c.169G>T c.(169-171)GCC>TCC p.A57S NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 57 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TCATGGCCTTGCCAGGTTGGT 0.413 135 108 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16967399 16967399 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:16967399A>T uc001ioo.2 - 43 6539 c.6487T>A c.(6487-6489)TCT>ACT p.S2163T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2163 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGGGTGGAGAACAGATATCA 0.388 32 34 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18250781 18250781 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:18250781C>A uc001ipo.2 + 3 806 c.533C>A c.(532-534)TCT>TAT p.S178Y SLC39A12_uc001ipn.2_Missense_Mutation_p.S178Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.S178Y|SLC39A12_uc010qck.1_Missense_Mutation_p.S44Y NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 178 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTTGACACTTCTCAAAGCCAG 0.418 35 80 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18280105 18280105 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:18280105C>A uc001ipo.2 + 8 1568 c.1295C>A c.(1294-1296)GCC>GAC p.A432D SLC39A12_uc001ipn.2_Missense_Mutation_p.A432D|SLC39A12_uc001ipp.2_Missense_Mutation_p.A432D|SLC39A12_uc010qck.1_Missense_Mutation_p.A298D NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 432 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AAGCAGGAAGCCCCAGAATTT 0.348 58 55 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25886785 25886785 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:25886785C>T uc001isj.2 + 11 2290 c.2230C>T c.(2230-2232)CGG>TGG p.R744W GPR158_uc001isk.2_Missense_Mutation_p.R119W NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 744 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CCAGAAAAAGCGGTGCTCGAA 0.498 49 139 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31810466 31810466 + Missense_Mutation SNP C T T rs138456617 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:31810466C>T uc001ivs.3 + 7 2266 c.2203C>T c.(2203-2205)CTT>TTT p.L735F ZEB1_uc001ivr.3_Missense_Mutation_p.L517F|ZEB1_uc010qee.1_Missense_Mutation_p.L517F|ZEB1_uc010qef.1_Missense_Mutation_p.L517F|ZEB1_uc009xlj.1_Missense_Mutation_p.L661F|ZEB1_uc010qeg.1_Missense_Mutation_p.L594F|ZEB1_uc009xlk.1_Missense_Mutation_p.L517F|ZEB1_uc001ivt.3_Missense_Mutation_p.L517F|ZEB1_uc001ivu.3_Missense_Mutation_p.L736F|ZEB1_uc001ivv.3_Missense_Mutation_p.L715F|ZEB1_uc010qeh.1_Missense_Mutation_p.L668F|ZEB1_uc009xlo.1_Missense_Mutation_p.L718F|ZEB1_uc009xlp.2_Missense_Mutation_p.L719F NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 735 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) AGTAGAACCTCTTGATCTTTC 0.428 36 92 --- --- --- --- PASS ARHGAP12 94134 broad.mit.edu 37 10 32106816 32106816 + Splice_Site SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:32106816T>A uc001ivz.1 - 13 1903 c.1633_splice c.e13-1 p.L545_splice ARHGAP12_uc001ivy.1_Splice_Site_p.L491_splice|ARHGAP12_uc009xls.2_Splice_Site_p.L496_splice|ARHGAP12_uc001iwb.1_Splice_Site_p.L538_splice|ARHGAP12_uc001iwc.1_Splice_Site_p.L513_splice|ARHGAP12_uc009xlq.1_Splice_Site_p.L466_splice|ARHGAP12_uc001iwd.1_Splice_Site_p.L513_splice|ARHGAP12_uc009xlr.1_Splice_Site_p.L543_splice NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) AGTTTTCAGCTTTAGAGAAAA 0.338 23 72 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48414071 48414071 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:48414071T>C uc001jfa.1 - 2 960 c.797A>G c.(796-798)AAG>AGG p.K266R NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 266 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CCTGGTCTCCTTGGTCCCACT 0.572 19 56 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49392891 49392891 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:49392891T>C uc001jgi.2 - 19 2500 c.2393A>G c.(2392-2394)CAA>CGA p.Q798R FRMPD2_uc001jgh.2_Missense_Mutation_p.Q766R|FRMPD2_uc001jgj.2_Missense_Mutation_p.Q776R NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 798 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) AGGGTCAGCTTGGCCTGAATA 0.338 11 39 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61831882 61831882 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:61831882C>A uc001jky.2 - 37 8949 c.8757G>T c.(8755-8757)ATG>ATT p.M2919I ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2919 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATTTTACAGTCATTTCTTTAA 0.403 46 57 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64944447 64944447 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:64944447T>A uc001jmn.2 - 21 7182 c.6882A>T c.(6880-6882)GAA>GAT p.E2294D JMJD1C_uc001jml.2_Missense_Mutation_p.E2057D|JMJD1C_uc001jmm.2_Missense_Mutation_p.E2006D|JMJD1C_uc010qiq.1_Missense_Mutation_p.E2112D|JMJD1C_uc009xpi.2_Missense_Mutation_p.E2112D|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.E201D NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2294 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TGAATTTTCCTTCTGGATTAC 0.363 35 89 --- --- --- --- PASS TTC18 118491 broad.mit.edu 37 10 75056899 75056899 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:75056899G>T uc009xrc.2 - 16 1876 c.1755C>A c.(1753-1755)TAC>TAA p.Y585* TTC18_uc001jty.2_Nonsense_Mutation_p.Y585*|TTC18_uc009xrd.1_Nonsense_Mutation_p.Y399*|TTC18_uc001jtx.2_5'UTR NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 585 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) TTGTCTTCAAGTATTTATCTC 0.438 31 79 --- --- --- --- PASS SEC24C 9632 broad.mit.edu 37 10 75526283 75526283 + Missense_Mutation SNP C T T rs148361947 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:75526283C>T uc001juw.2 + 13 1962 c.1783C>T c.(1783-1785)CGG>TGG p.R595W SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.R453W|SEC24C_uc001jux.2_Missense_Mutation_p.R595W|SEC24C_uc010qko.1_Missense_Mutation_p.R476W|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 595 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) CAATGAGTCTCGGGCAGTTAT 0.517 24 50 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87373339 87373339 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:87373339C>A uc001kdl.1 - 15 2527 c.2426G>T c.(2425-2427)GGC>GTC p.G809V GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G380V NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 809 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GTCACAGCGGCCCATGTGCGG 0.612 Multiple Myeloma(13;0.14) 19 39 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87373340 87373340 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:87373340C>A uc001kdl.1 - 15 2526 c.2425G>T c.(2425-2427)GGC>TGC p.G809C GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G380C NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 809 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCACAGCGGCCCATGTGCGGC 0.607 Multiple Myeloma(13;0.14) 19 42 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118215325 118215325 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:118215325G>T uc001lcl.3 + 5 649 c.548G>T c.(547-549)GGC>GTC p.G183V NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 183 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AGGATACCAGGCCTTGGAAGA 0.443 24 66 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118385573 118385573 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:118385573C>A uc001lcq.2 + 6 347 c.324C>A c.(322-324)GAC>GAA p.D108E PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 107 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) GGCCATCGGACATGTGCAAGG 0.542 12 14 --- --- --- --- PASS NPS 594857 broad.mit.edu 37 10 129350859 129350859 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:129350859G>C uc001ljx.1 + 3 246 c.226G>C c.(226-228)GGC>CGC p.G76R NM_001030013 NP_001025184 P0C0P6 NPS_HUMAN neuropeptide S precursor 76 neuropeptide signaling pathway extracellular region 0 CAATGGAGTTGGCACAGGGAT 0.423 60 198 --- --- --- --- PASS INPP5A 3632 broad.mit.edu 37 10 134563057 134563057 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:134563057G>T uc001llp.2 + 10 1017 c.769G>T c.(769-771)GCC>TCC p.A257S INPP5A_uc001llo.1_Missense_Mutation_p.A257S|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 257 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GACGGTCCGGGCCGCCGACAC 0.627 8 50 --- --- --- --- PASS PAOX 196743 broad.mit.edu 37 10 135203156 135203156 + Missense_Mutation SNP A C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr10:135203156A>C uc001lmv.2 + 6 1377 c.1297A>C c.(1297-1299)ACT>CCT p.T433P PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 571 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CGCCCCGTACACTAGGGGGTC 0.672 55 47 --- --- --- --- PASS UBQLNL 143630 broad.mit.edu 37 11 5536531 5536531 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:5536531G>T uc001maz.3 - 1 1426 c.1141C>A c.(1141-1143)CCA>ACA p.P381T HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 381 large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GGTAAGGCTGGTATCCAAGCT 0.488 83 84 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023660 6023660 + Missense_Mutation SNP G A A rs116778909 by1000genomes TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:6023660G>A uc010qzv.1 - 1 719 c.719C>T c.(718-720)TCC>TTC p.S240F NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGAGTTTGGACACAGACAG 0.443 15 87 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6261348 6261348 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:6261348C>T uc001mco.2 + 4 431 c.324C>T c.(322-324)CGC>CGT p.R108R CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Silent_p.R68R NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 108 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTCGAGTCGCTACGTTCGCA 0.602 134 131 --- --- --- --- PASS LYVE1 10894 broad.mit.edu 37 11 10585798 10585798 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:10585798C>T uc001miv.2 - 2 495 c.209G>A c.(208-210)GGC>GAC p.G70D uc001miu.2_Intron|LYVE1_uc010rca.1_Intron NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 70 Link.|Extracellular (Potential). anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|skin(1) 2 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) TTGGTCCTTGCCGGCCAAACT 0.473 4 108 --- --- --- --- PASS SLC5A12 159963 broad.mit.edu 37 11 26743259 26743259 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:26743259C>A uc001mra.2 - 1 316 c.3G>T c.(1-3)ATG>ATT p.M1I SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Missense_Mutation_p.M1I NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 1 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 TCTTCACCTCCATATTGGAAA 0.408 97 126 --- --- --- --- PASS DDB2 1643 broad.mit.edu 37 11 47259387 47259387 + Splice_Site SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:47259387G>A uc001neb.2 + 8 1219 c.1024_splice c.e8-1 p.A342_splice DDB2_uc001nec.2_Splice_Site|DDB2_uc009yli.1_Splice_Site_p.A278_splice|DDB2_uc001ned.2_Splice_Site|DDB2_uc001nee.2_Splice_Site_p.A153_splice|DDB2_uc001nef.2_Splice_Site_p.A139_splice|DDB2_uc001neg.2_Splice_Site_p.A201_splice|DDB2_uc001neh.2_Splice_Site NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 CCATCTCCTAGGCAGCCTGGC 0.453 Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 65 21 --- --- --- --- PASS PTPRJ 5795 broad.mit.edu 37 11 48145189 48145189 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:48145189G>T uc001ngp.3 + 5 996 c.641G>T c.(640-642)CGT>CTT p.R214L PTPRJ_uc001ngo.3_Missense_Mutation_p.R214L NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 214 Extracellular (Potential).|Fibronectin type-III 2. R -> C (in a colon cancer sample; somatic mutation). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 TCTGATCTCCGTGTTGCCCTC 0.478 48 13 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606581 55606581 + Silent SNP G T T rs139231893 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:55606581G>T uc010rio.1 + 1 354 c.354G>T c.(352-354)GCG>GCT p.A118A NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A118V(1) ovary(4)|skin(1) 5 all_epithelial(135;0.208) TTCTATTTGCGGTGATGGCCT 0.423 128 200 --- --- --- --- PASS OR5F1 338674 broad.mit.edu 37 11 55761527 55761527 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:55761527G>T uc010riv.1 - 1 575 c.575C>A c.(574-576)ACA>AAA p.T192K NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TTTCAGGATTGTGTCAGAACA 0.448 31 69 --- --- --- --- PASS PRG3 10394 broad.mit.edu 37 11 57146214 57146214 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:57146214C>G uc001njv.1 - 4 557 c.447G>C c.(445-447)CAG>CAC p.Q149H NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 precursor 149 C-type lectin. basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding 0 TAGTGCAGCACTGAATGCGAT 0.502 8 491 --- --- --- --- PASS CATSPER1 117144 broad.mit.edu 37 11 65786339 65786339 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:65786339C>T uc001ogt.2 - 10 2298 c.2160G>A c.(2158-2160)CTG>CTA p.L720L NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 720 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 TGAGCCGCTTCAGCATGGTGC 0.587 39 66 --- --- --- --- PASS TMPRSS4 56649 broad.mit.edu 37 11 117978579 117978579 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:117978579G>A uc010rxo.1 + 6 822 c.531G>A c.(529-531)CGG>CGA p.R177R TMPRSS4_uc010rxp.1_Silent_p.R172R|TMPRSS4_uc010rxq.1_Silent_p.R30R|TMPRSS4_uc010rxr.1_Silent_p.R152R|TMPRSS4_uc010rxs.1_Silent_p.R137R|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.R152R NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 177 Extracellular (Potential).|SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TTCGCATGCGGAACTCAAGTG 0.547 27 6 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440209 124440209 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:124440209A>G uc010san.1 + 1 245 c.245A>G c.(244-246)AAT>AGT p.N82S NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 82 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;0.0214) TTTCTCAGCAATCTGTCACTC 0.493 4 151 --- --- --- --- PASS MRPL51 51258 broad.mit.edu 37 12 6601442 6601442 + Nonsense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:6601442G>A uc001qom.2 - 3 551 c.382C>T c.(382-384)CGA>TGA p.R128* MRPL51_uc001qon.1_RNA|NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank NM_016497 NP_057581 Q4U2R6 RM51_HUMAN mitochondrial ribosomal protein L51 precursor 128 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome 0 CTCTTCTATCGAAACTTCCCA 0.438 62 210 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9009779 9009779 + Silent SNP C A A rs56179521 by1000genomes TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:9009779C>A uc001quz.3 + 24 2966 c.2868C>A c.(2866-2868)GCC>GCA p.A956A A2ML1_uc001qva.1_Silent_p.A536A|A2ML1_uc010sgm.1_Silent_p.A456A NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 800 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TGGGCACAGCCCTGCAGAACC 0.507 33 110 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13720031 13720031 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:13720031G>A uc001rbt.2 - 12 2705 c.2526C>T c.(2524-2526)TTC>TTT p.F842F NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 842 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACTGCCAATAGAAAAGGTGTT 0.498 72 47 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21690000 21690000 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:21690000C>T uc001rfb.2 - 16 2255 c.2000G>A c.(1999-2001)AGA>AAA p.R667K NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 667 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 CTCATCGTATCTCTCATCCTC 0.483 92 56 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23998945 23998945 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:23998945C>T uc001rfw.2 - 3 555 c.453G>A c.(451-453)ATG>ATA p.M151I SOX5_uc001rfx.2_Missense_Mutation_p.M138I|SOX5_uc001rfy.2_Missense_Mutation_p.M138I|SOX5_uc010siv.1_Missense_Mutation_p.M138I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.M103I|SOX5_uc001rga.2_Missense_Mutation_p.M116I NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 151 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGAGCTCTTCCATTTTCCTCT 0.443 37 88 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 44917246 44917246 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:44917246C>A uc001rog.2 - 17 2421 c.1826G>T c.(1825-1827)GGG>GTG p.G609V NELL2_uc001rof.3_Missense_Mutation_p.G608V|NELL2_uc001roh.2_Missense_Mutation_p.G609V|NELL2_uc009zkd.2_Missense_Mutation_p.G561V|NELL2_uc010skz.1_Missense_Mutation_p.G659V|NELL2_uc010sla.1_Missense_Mutation_p.G632V|NELL2_uc001roi.1_Missense_Mutation_p.G609V NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 609 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GCTGTGCCTCCCGGTCCCACA 0.448 70 55 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49424703 49424703 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:49424703G>A uc001rta.3 - 40 13644 c.13644C>T c.(13642-13644)AGC>AGT p.S4548S NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4548 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCAAGGCCTCGCTGGCCCTGA 0.627 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 28 11 --- --- --- --- PASS TMPRSS12 283471 broad.mit.edu 37 12 51252600 51252600 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:51252600C>T uc001rwx.3 + 3 463 c.416C>T c.(415-417)ACT>ATT p.T139I TMPRSS12_uc001rwy.2_Missense_Mutation_p.T139I NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 139 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 GTGATTGGAACTAATAATATA 0.279 6 19 --- --- --- --- PASS POU6F1 5463 broad.mit.edu 37 12 51584082 51584082 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:51584082C>T uc001rxy.2 - 5 1046 c.854G>A c.(853-855)CGG>CAG p.R285Q POU6F1_uc001rxz.2_Missense_Mutation_p.R285Q|POU6F1_uc001rya.2_Missense_Mutation_p.R285Q NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 285 Homeobox. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CGTCTGGCGCCGATTGCAGAA 0.542 57 57 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52992806 52992806 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:52992806C>A uc001sar.2 - 2 603 c.517G>T c.(517-519)GAG>TAG p.E173* KRT72_uc001saq.2_Nonsense_Mutation_p.E173*|KRT72_uc010sns.1_Nonsense_Mutation_p.E173*|KRT72_uc010snt.1_5'UTR NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 173 Linker 1.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) TAAATGGGCTCCAGGTTCTTC 0.562 6 198 --- --- --- --- PASS OR10A7 121364 broad.mit.edu 37 12 55615466 55615466 + Missense_Mutation SNP C T T rs138358769 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:55615466C>T uc010spf.1 + 1 658 c.658C>T c.(658-660)CGC>TGC p.R220C NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TTCCTACACCCGCATTATCAT 0.458 27 60 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56711394 56711394 + Nonstop_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:56711394C>A uc001skx.2 - 26 3981 c.3608G>T c.(3607-3609)TGA>TTA p.*1203L CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Nonstop_Mutation_p.*351L|PAN2_uc001skz.2_Nonstop_Mutation_p.*1202L|PAN2_uc001sky.2_Nonstop_Mutation_p.*1199L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 1203 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GAAGGGTAGTCAGAGCGCCAG 0.488 15 12 --- --- --- --- PASS PRIM1 5557 broad.mit.edu 37 12 57144981 57144981 + Splice_Site SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:57144981T>A uc001smd.2 - 2 168 c.104_splice c.e2-1 p.V35_splice PRIM1_uc001sme.1_Splice_Site|PRIM1_uc009zoz.1_Splice_Site|PRIM1_uc001smf.2_Splice_Site_p.V35_splice NM_000946 NP_000937 P49642 PRI1_HUMAN DNA primase polypeptide 1 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 DNA primase activity|metal ion binding 0 TCTTTATCACTGCAAAATAAA 0.318 3 5 --- --- --- --- PASS IRAK3 11213 broad.mit.edu 37 12 66638391 66638391 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:66638391T>A uc001sth.2 + 9 1115 c.1013T>A c.(1012-1014)CTG>CAG p.L338Q IRAK3_uc010ssy.1_Missense_Mutation_p.L277Q NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 338 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) AGTAAACATCTGTGGTACATG 0.428 9 141 --- --- --- --- PASS BEST3 144453 broad.mit.edu 37 12 70048959 70048959 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:70048959C>T uc001svg.2 - 10 1962 c.1735G>A c.(1735-1737)GAA>AAA p.E579K BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E366K|BEST3_uc010stm.1_Missense_Mutation_p.E473K NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 579 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGGTCTTCTTCACAGTTGAAT 0.537 54 30 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70934690 70934690 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:70934690T>C uc001swb.3 - 21 4918 c.4888A>G c.(4888-4890)ATT>GTT p.I1630V PTPRB_uc010sto.1_Missense_Mutation_p.I1540V|PTPRB_uc010stp.1_Missense_Mutation_p.I1540V|PTPRB_uc001swc.3_Missense_Mutation_p.I1848V|PTPRB_uc001swa.3_Missense_Mutation_p.I1760V NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1630 Helical; (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) AGCATGCCAATTAAAAACAGA 0.413 3 15 --- --- --- --- PASS ANO4 121601 broad.mit.edu 37 12 101336160 101336160 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:101336160G>A uc010svm.1 + 5 875 c.303G>A c.(301-303)GTG>GTA p.V101V ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Silent_p.V66V|ANO4_uc001thx.2_Silent_p.V101V NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 101 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TGCAGACAGTGCCAGAAAGAA 0.353 HNSCC(74;0.22) 77 59 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102064101 102064101 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:102064101C>G uc001tii.2 + 23 2608 c.2506C>G c.(2506-2508)CCT>GCT p.P836A MYBPC1_uc001tig.2_Missense_Mutation_p.P843A|MYBPC1_uc010svq.1_Missense_Mutation_p.P805A|MYBPC1_uc001tih.2_Missense_Mutation_p.P843A|MYBPC1_uc001tij.2_Missense_Mutation_p.P818A|MYBPC1_uc010svr.1_Missense_Mutation_p.P818A|MYBPC1_uc010svs.1_Missense_Mutation_p.P836A|MYBPC1_uc010svt.1_Missense_Mutation_p.P806A|MYBPC1_uc010svu.1_Missense_Mutation_p.P799A|MYBPC1_uc001tik.2_Missense_Mutation_p.P792A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 836 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 TCTCTCAGAACCTCCAAAGAT 0.438 43 181 --- --- --- --- PASS CCDC63 160762 broad.mit.edu 37 12 111342414 111342414 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:111342414C>A uc001trv.1 + 11 1560 c.1365C>A c.(1363-1365)AAC>AAA p.N455K CCDC63_uc010sye.1_Missense_Mutation_p.N415K|CCDC63_uc001trw.1_Missense_Mutation_p.N370K NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 455 skin(6)|ovary(1)|pancreas(1) 8 AGAAGACCAACGACCTGCTGC 0.597 27 91 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112622092 112622092 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:112622092C>T uc009zwc.2 - 54 9430 c.9412G>A c.(9412-9414)GAG>AAG p.E3138K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GAGGCCGTCTCTGCATTGTCC 0.552 23 67 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124397757 124397757 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:124397757C>A uc001uft.3 + 59 9918 c.9893C>A c.(9892-9894)GCC>GAC p.A3298D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3298 Potential.|Stalk (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) AAATATGAGGCCGCCATACTG 0.502 14 4 --- --- --- --- PASS SCARB1 949 broad.mit.edu 37 12 125294743 125294743 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:125294743C>T uc001ugo.3 - 6 1072 c.819G>A c.(817-819)GAG>GAA p.E273E SCARB1_uc001ugn.3_Silent_p.E273E|SCARB1_uc001ugm.3_Silent_p.E273E|SCARB1_uc010tbd.1_Silent_p.E273E|SCARB1_uc010tbe.1_Silent_p.E232E|SCARB1_uc001ugp.3_Silent_p.E273E NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 273 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) GGCTGTAGAACTCCAGCGAGG 0.572 6 36 --- --- --- --- PASS UBC 7316 broad.mit.edu 37 12 125397880 125397880 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr12:125397880C>A uc001ugs.3 - 2 886 c.438G>T c.(436-438)GTG>GTT p.V146V UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V146V|UBC_uc001ugt.2_Silent_p.V146V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 146 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGCACCAGGTGCA 0.557 189 140 --- --- --- --- PASS C13orf30 144809 broad.mit.edu 37 13 43358264 43358264 + Nonsense_Mutation SNP C T T rs1853636 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr13:43358264C>T uc010tfk.1 + 2 184 c.61C>T c.(61-63)CGA>TGA p.R21* C13orf30_uc010tfl.1_Nonsense_Mutation_p.R21* NM_182508 NP_872314 Q8N7L0 CM030_HUMAN hypothetical protein LOC144809 21 0 Lung NSC(96;0.000369)|Prostate(109;0.0305)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.000512)|OV - Ovarian serous cystadenocarcinoma(117;0.000563)|BRCA - Breast invasive adenocarcinoma(63;0.0677) TCCTTTTATTCGAGTTCCTCC 0.373 30 47 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84455097 84455097 + Silent SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr13:84455097G>C uc001vlk.2 - 1 1432 c.546C>G c.(544-546)CTC>CTG p.L182L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 182 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCCGGAGGTCGAGGTGGGTGA 0.527 71 26 --- --- --- --- PASS RNASE3 6037 broad.mit.edu 37 14 21360008 21360008 + Silent SNP C A A rs115812876 by1000genomes TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:21360008C>A uc001vyj.2 + 2 217 c.163C>A c.(163-165)CGG>AGG p.R55R NM_002935 NP_002926 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 (eosinophil 55 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) CATTGCAATGCGGGCAATTAA 0.463 97 110 --- --- --- --- PASS HAUS4 54930 broad.mit.edu 37 14 23420834 23420834 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:23420834T>C uc001whp.2 - 4 426 c.395A>G c.(394-396)CAG>CGG p.Q132R HAUS4_uc001who.2_Intron|HAUS4_uc001whq.2_Intron|HAUS4_uc001whr.2_Missense_Mutation_p.Q132R|HAUS4_uc001whs.2_Intron|HAUS4_uc001wht.2_Missense_Mutation_p.Q132R|HAUS4_uc001whu.2_Intron|HAUS4_uc001whv.2_Missense_Mutation_p.Q8R|HAUS4_uc001whw.2_Missense_Mutation_p.Q132R|HAUS4_uc001whx.2_Intron NM_017815 NP_060285 Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 132 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle ovary(1) 1 CTCCCTCTCCTGGCTAGGACC 0.498 43 45 --- --- --- --- PASS ACIN1 22985 broad.mit.edu 37 14 23549970 23549970 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:23549970C>A uc001wit.3 - 6 1076 c.748G>T c.(748-750)GAG>TAG p.E250* ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Nonsense_Mutation_p.E250*|ACIN1_uc010tnj.1_Nonsense_Mutation_p.E210* NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 250 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCTTGATCCTCTTCCTCCTCA 0.363 253 396 --- --- --- --- PASS PABPN1 8106 broad.mit.edu 37 14 23777252 23777252 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:23777252C>T uc001wjh.3 + 3 464 c.276C>T c.(274-276)AAC>AAT p.N92N BCL2L2_uc001wjg.3_Silent_p.N92N|BCL2L2_uc001wji.3_Silent_p.N92N NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 Error:Variant_position_missing_in_Q86U42_after_alignment modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) GGGGCCCCAACTGGGGCCGCC 0.577 60 110 --- --- --- --- PASS FBXO33 254170 broad.mit.edu 37 14 39900916 39900916 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:39900916C>G uc001wvk.2 - 1 789 c.451G>C c.(451-453)GGC>CGC p.G151R NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 151 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GGGCCACCGCCGCTCAGATAG 0.672 27 41 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47351380 47351380 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:47351380C>T uc001wwj.3 - 11 2272 c.2076G>A c.(2074-2076)GGG>GGA p.G692G MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.G463G|MDGA2_uc010ani.2_Silent_p.G252G NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 692 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TTTGAATATTCCCATTTATTT 0.378 24 54 --- --- --- --- PASS GPR137C 283554 broad.mit.edu 37 14 53066881 53066881 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:53066881T>C uc001wzu.3 + 3 539 c.539T>C c.(538-540)GTG>GCG p.V180A GPR137C_uc001wzt.3_Missense_Mutation_p.V180A NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 180 Helical; (Potential). integral to membrane 0 Breast(41;0.0716) TTTTTAGTGGTGAACTTGACT 0.343 102 132 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75052758 75052758 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:75052758C>A uc001xqa.2 - 3 1016 c.629G>T c.(628-630)CGC>CTC p.R210L NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 210 EGF-like 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GAAACCAGAGCGGCAGACACA 0.657 7 5 --- --- --- --- PASS ATXN3 4287 broad.mit.edu 37 14 92555162 92555162 + Splice_Site SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:92555162C>T uc001yac.3 - 6 457 c.388_splice c.e6-1 p.W130_splice ATXN3_uc010aug.2_Splice_Site_p.W115_splice|ATXN3_uc001yad.3_Splice_Site_p.W75_splice|ATXN3_uc010auh.2_Splice_Site_p.W64_splice|ATXN3_uc001yae.3_Splice_Site_p.W32_splice|ATXN3_uc010twl.1_Splice_Site NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) AGTTAAACCACTGGAAAAAAA 0.323 143 232 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106208309 106208309 + RNA SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr14:106208309C>T uc010tyt.1 - 3627 c.58905G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Silent_p.L63L|uc001ysf.2_Silent_p.L63L Parts of antibodies, mostly variable regions. 0 CCTTGCCATTCAGCCAGTCCT 0.592 224 308 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23931814 23931814 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:23931814C>T uc001ywk.2 - 1 637 c.551G>A c.(550-552)CGC>CAC p.R184H NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 184 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CATGGGCATGCGGTTGCTCAG 0.642 Prader-Willi_syndrome 27 40 --- --- --- --- PASS ARHGAP11A 9824 broad.mit.edu 37 15 32929724 32929724 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:32929724C>T uc001zgy.1 + 12 3472 c.2750C>T c.(2749-2751)TCA>TTA p.S917L ARHGAP11A_uc010ubw.1_Missense_Mutation_p.S728L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.S728L NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 917 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) GGTGCAATTTCAAAGTCAAGC 0.373 80 108 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34649516 34649516 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:34649516C>A uc001zif.2 + 7 3378 c.3223C>A c.(3223-3225)CGA>AGA p.R1075R C15orf55_uc010ucc.1_Silent_p.R1103R|C15orf55_uc010ucd.1_Silent_p.R1093R NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1075 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GTCTGGGAAGCGAGCTCTAGC 0.592 T BRD3|BRD4 lethal midline carcinoma 22 61 --- --- --- --- PASS BNIP2 663 broad.mit.edu 37 15 59971939 59971939 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:59971939C>T uc010uhc.1 - 4 513 c.510G>A c.(508-510)GTG>GTA p.V170V BNIP2_uc010uhb.1_Silent_p.V111V NM_004330 NP_004321 Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kD interacting protein 2 49 anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding ovary(1) 1 GTTTCTTTCTCACTTTATTTC 0.363 9 26 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 62944323 62944323 + Silent SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:62944323T>C uc002alb.3 + 3 354 c.354T>C c.(352-354)TGT>TGC p.C118C NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 118 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TCACTATTTGTAGCAGAATAG 0.428 71 90 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79749790 79749790 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:79749790G>T uc002bew.1 + 2 1376 c.1301G>T c.(1300-1302)GGG>GTG p.G434V KIAA1024_uc010unk.1_Missense_Mutation_p.G434V NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 434 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 AAACAAAATGGGCTCAAATCT 0.483 54 56 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81585347 81585347 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:81585347C>A uc002bgh.3 + 12 2247 c.1871C>A c.(1870-1872)TCT>TAT p.S624Y IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S666Y|IL16_uc002bgg.2_Missense_Mutation_p.S624Y|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.S118Y|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 624 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TCCTCATGCTCTTCTGGGCAC 0.512 40 48 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89398124 89398124 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr15:89398124G>A uc010upo.1 + 12 2682 c.2308G>A c.(2308-2310)GAA>AAA p.E770K ACAN_uc010upp.1_Missense_Mutation_p.E770K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 770 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGCAACAGAGGAAAGTACAGA 0.537 9 17 --- --- --- --- PASS HAGHL 84264 broad.mit.edu 37 16 779062 779062 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:779062C>A uc002cjl.1 + 7 1048 c.767C>A c.(766-768)GCC>GAC p.A256D CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_3'UTR|HAGHL_uc002cjn.1_3'UTR|HAGHL_uc002cjo.1_Silent_p.R218R|HAGHL_uc010uup.1_Silent_p.R218R NM_207112 NP_996995 Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like isoform 1 256 hydrolase activity|metal ion binding 0 Hepatocellular(780;0.00335) GCGAGGAGCGCCTCTACAACC 0.627 13 19 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2167522 2167522 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:2167522G>A uc002cos.1 - 6 1562 c.1353C>T c.(1351-1353)GCC>GCT p.A451A PKD1_uc002cot.1_Silent_p.A451A NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 451 C-type lectin.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGCGCTGCACGGCGGGACTGT 0.706 7 6 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2812332 2812332 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:2812332G>T uc002crk.2 + 11 2352 c.1803G>T c.(1801-1803)AGG>AGT p.R601S SRRM2_uc002crj.1_Missense_Mutation_p.R505S|SRRM2_uc002crl.1_Missense_Mutation_p.R601S|SRRM2_uc010bsu.1_Missense_Mutation_p.R505S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 601 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CTCCCACCAGGCGTAGGTCTC 0.617 36 66 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3656624 3656624 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:3656624C>T uc002cvp.2 - 3 1238 c.611G>A c.(610-612)CGC>CAC p.R204H BTBD12_uc002cvq.1_Missense_Mutation_p.R204H NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 204 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTGTGCTGTGCGGGGTTTGGA 0.557 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 185 184 --- --- --- --- PASS UQCRC2 7385 broad.mit.edu 37 16 21983385 21983385 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:21983385G>A uc002djx.2 + 10 1044 c.908G>A c.(907-909)AGC>AAC p.S303N UQCRC2_uc002djy.2_Missense_Mutation_p.S303N|UQCRC2_uc010bxa.2_RNA|UQCRC2_uc002djz.1_Missense_Mutation_p.S170N NM_003366 NP_003357 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 303 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding large_intestine(2) 2 GBM - Glioblastoma multiforme(48;0.0264) AAGAGGGGCAGCAACACCACC 0.512 22 37 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27772789 27772789 + Silent SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:27772789T>G uc002dow.2 + 19 3711 c.3687T>G c.(3685-3687)ACT>ACG p.T1229T NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1229 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 TGGGGCTCACTGGCCTGGAAG 0.592 52 65 --- --- --- --- PASS APOB48R 55911 broad.mit.edu 37 16 28507309 28507309 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:28507309G>C uc002dqb.1 + 2 957 c.947G>C c.(946-948)GGG>GCG p.G316A uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 316 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GCCTCAGGCGGGGAGGAGGCT 0.672 7 17 --- --- --- --- PASS ZNF785 146540 broad.mit.edu 37 16 30594536 30594536 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:30594536G>T uc002dyw.1 - 3 641 c.563C>A c.(562-564)GCC>GAC p.A188D uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.A173D|ZNF785_uc010vez.1_Missense_Mutation_p.A153D NM_152458 NP_689671 A8K8V0 ZN785_HUMAN zinc finger protein 785 188 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGGTGGCTGGCCAGGAGGGA 0.642 4 38 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670765 49670765 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:49670765C>G uc002efs.2 - 5 2596 c.2298G>C c.(2296-2298)CAG>CAC p.Q766H ZNF423_uc010vgn.1_Missense_Mutation_p.Q649H NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 766 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGACGTGCACCTGCAGGTCAG 0.602 39 49 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49672375 49672375 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:49672375C>A uc002efs.2 - 5 986 c.688G>T c.(688-690)GGC>TGC p.G230C ZNF423_uc010vgn.1_Missense_Mutation_p.G113C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 230 C2H2-type 5. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GAGGAGAAGCCGCGCTTGCAC 0.592 49 75 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50733863 50733863 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:50733863A>T uc002egm.1 + 2 643 c.538A>T c.(538-540)AGG>TGG p.R180W NOD2_uc010cbj.1_Missense_Mutation_p.R153W|NOD2_uc010cbk.1_Missense_Mutation_p.R153W|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 180 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) ACCGTCCCAGAGGGTGAGGCA 0.532 30 28 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51172604 51172604 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:51172604G>A uc010vgs.1 - 2 3560 c.3529C>T c.(3529-3531)CTT>TTT p.L1177F SALL1_uc010vgr.1_Missense_Mutation_p.L1080F|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1177 C2H2-type 9. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGTACCTTAAGATTGCCTTTA 0.493 30 57 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53302009 53302009 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:53302009G>T uc002ehb.2 + 21 4852 c.4688G>T c.(4687-4689)GGA>GTA p.G1563V CHD9_uc002egy.2_Missense_Mutation_p.G1563V|CHD9_uc002ehc.2_Missense_Mutation_p.G1563V|CHD9_uc002ehf.2_Missense_Mutation_p.G677V|CHD9_uc010cbw.2_5'UTR|CHD9_uc002ehd.2_Missense_Mutation_p.G1089V NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1563 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) ACTGAAGATGGACAGACACGA 0.338 16 15 --- --- --- --- PASS RPGRIP1L 23322 broad.mit.edu 37 16 53720458 53720458 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:53720458C>G uc002ehp.2 - 6 727 c.663G>C c.(661-663)CAG>CAC p.Q221H RPGRIP1L_uc002eho.3_Missense_Mutation_p.Q221H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.Q221H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.Q221H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.Q221H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.Q221H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 221 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) ACTCCTCTATCTGGCCTCTTT 0.373 85 108 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58583753 58583753 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:58583753G>A uc002env.2 - 25 3685 c.3392C>T c.(3391-3393)TCA>TTA p.S1131L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S1126L|CNOT1_uc002enx.2_Missense_Mutation_p.S1131L|CNOT1_uc002enz.1_Missense_Mutation_p.S560L|CNOT1_uc010vik.1_Missense_Mutation_p.S127L|SNORA46_uc002eny.1_5'Flank NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1131 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGATACTGTGAAACCCAAGG 0.388 122 159 --- --- --- --- PASS PLEKHG4 25894 broad.mit.edu 37 16 67314219 67314219 + Nonsense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:67314219C>G uc002eso.3 + 1 2807 c.272C>G c.(271-273)TCA>TGA p.S91* PLEKHG4_uc002esp.3_5'UTR|PLEKHG4_uc002esq.3_Nonsense_Mutation_p.S91*|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc010cef.2_Nonsense_Mutation_p.S91*|PLEKHG4_uc002ess.3_Nonsense_Mutation_p.S91*|PLEKHG4_uc010ceg.2_Nonsense_Mutation_p.S91* NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 91 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GAAAGCTCCTCAGTCCTGTCA 0.612 42 53 --- --- --- --- PASS ZFP90 146198 broad.mit.edu 37 16 68592426 68592426 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:68592426G>C uc010cff.2 + 4 503 c.211G>C c.(211-213)GAG>CAG p.E71Q ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.E71Q|ZFP90_uc002ewe.2_Missense_Mutation_p.E71Q NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN zinc finger protein 90 71 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GCAAGGAGAAGAGCCATGGAT 0.423 25 50 --- --- --- --- PASS MBTPS1 8720 broad.mit.edu 37 16 84103622 84103622 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:84103622T>G uc002fhi.2 - 14 2306 c.1804A>C c.(1804-1806)ACT>CCT p.T602P MBTPS1_uc002fhh.2_Missense_Mutation_p.T106P NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 602 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 ACTGTTGAAGTCTGTTCTGCA 0.408 132 206 --- --- --- --- PASS KIAA0513 9764 broad.mit.edu 37 16 85100945 85100945 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:85100945G>T uc002fiu.2 + 2 488 c.268G>T c.(268-270)GAA>TAA p.E90* KIAA0513_uc002fis.3_Nonsense_Mutation_p.E90*|KIAA0513_uc010voj.1_Nonsense_Mutation_p.E90*|KIAA0513_uc002fit.2_Nonsense_Mutation_p.E90* NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 90 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) TACCCAGGATGAAGAGACCCT 0.617 28 56 --- --- --- --- PASS CDK10 8558 broad.mit.edu 37 16 89761139 89761139 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:89761139C>A uc010cio.2 + 10 778 c.735C>A c.(733-735)ATC>ATA p.I245I CDK10_uc002fob.2_3'UTR|CDK10_uc002fod.2_Silent_p.I174I|CDK10_uc002foe.2_Silent_p.I174I|CDK10_uc002fof.2_Silent_p.I174I|CDK10_uc002fog.3_Silent_p.I174I|CDK10_uc002foh.3_Silent_p.I174I|CDK10_uc002foi.2_5'Flank NM_052988 NP_443714 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 isoform a 245 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) CTTCCGAGATCCACCAGATCG 0.592 3 9 --- --- --- --- PASS FANCA 2175 broad.mit.edu 37 16 89836993 89836993 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr16:89836993G>A uc002fou.1 - 24 2243 c.2201C>T c.(2200-2202)TCC>TTC p.S734F FANCA_uc010vpn.1_Missense_Mutation_p.S734F NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 734 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGCGACACTGGAGGCAGCCAT 0.642 D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 10 14 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and 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.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642 111 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) 34 9 --- --- --- --- PASS ARHGEF15 22899 broad.mit.edu 37 17 8215492 8215492 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:8215492A>T uc002glc.2 + 2 256 c.135A>T c.(133-135)GAA>GAT p.E45D ARHGEF15_uc002glb.1_Missense_Mutation_p.E45D|ARHGEF15_uc002gld.2_Missense_Mutation_p.E45D|ARHGEF15_uc010vuw.1_Missense_Mutation_p.E45D NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 45 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CTCCACAAGAACTACCCCGAA 0.642 69 11 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18212202 18212202 + Nonsense_Mutation SNP A C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:18212202A>C uc002gsx.1 - 2 463 c.234T>G c.(232-234)TAT>TAG p.Y78* TOP3A_uc002gsw.1_5'Flank|TOP3A_uc010vxs.1_Missense_Mutation_p.M1R|TOP3A_uc010cqa.1_Intron NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 78 Toprim. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CTACCTGGCCATACAGATGAT 0.279 14 17 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27959607 27959607 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:27959607C>T uc002heo.1 - 15 2524 c.2524G>A c.(2524-2526)GAA>AAA p.E842K SSH2_uc010wbh.1_Missense_Mutation_p.E869K NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 842 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCAGCTGGTTCCCCTTCTTCC 0.577 215 49 --- --- --- --- PASS AP2B1 163 broad.mit.edu 37 17 33951435 33951435 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:33951435C>T uc002hjr.2 + 6 734 c.545C>T c.(544-546)GCG>GTG p.A182V AP2B1_uc002hjq.2_Missense_Mutation_p.A182V|AP2B1_uc010wci.1_Missense_Mutation_p.A144V|AP2B1_uc002hjs.2_Missense_Mutation_p.A125V|AP2B1_uc002hjt.2_Missense_Mutation_p.A182V|AP2B1_uc010ctv.2_Missense_Mutation_p.A182V|AP2B1_uc010wcj.1_5'UTR NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 182 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AATGCCGTAGCGGCATTATCT 0.463 113 122 --- --- --- --- PASS RPL19 6143 broad.mit.edu 37 17 37357551 37357551 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:37357551G>A uc002hrq.1 + 2 153 c.91G>A c.(91-93)GAA>AAA p.E31K RPL19_uc002hrr.1_Missense_Mutation_p.E29K NM_000981 NP_000972 P84098 RL19_HUMAN ribosomal protein L19 31 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 TGAGACCAATGAAATCGCCAA 0.483 36 222 --- --- --- --- PASS CDK12 51755 broad.mit.edu 37 17 37627540 37627540 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:37627540G>A uc010cvv.2 + 2 2041 c.1455G>A c.(1453-1455)GAG>GAA p.E485E CDK12_uc010wef.1_Silent_p.E484E|CDK12_uc002hrw.3_Silent_p.E485E NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 485 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 AGTTGGATGAGAACTCCGAGA 0.393 TCGA Ovarian(9;0.13) 309 221 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38189317 38189317 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:38189317G>A uc002htt.2 - 8 1127 c.814C>T c.(814-816)CGC>TGC p.R272C MED24_uc010wes.1_Missense_Mutation_p.R132C|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.R297C|MED24_uc002htu.2_Missense_Mutation_p.R259C|MED24_uc010cwn.2_Missense_Mutation_p.R259C|MED24_uc010weu.1_Missense_Mutation_p.R182C|MED24_uc010wev.1_Missense_Mutation_p.R222C|MED24_uc010wew.1_Missense_Mutation_p.R201C|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.R113C|MED24_uc010wfa.1_Missense_Mutation_p.R241C|MED24_uc010wfb.1_Missense_Mutation_p.R284C NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 272 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) ACCTGCATGCGCTTCACCATC 0.642 13 143 --- --- --- --- PASS ATP6V0A1 535 broad.mit.edu 37 17 40630546 40630546 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:40630546G>T uc002hzr.2 + 7 739 c.572G>T c.(571-573)TGC>TTC p.C191F ATP6V0A1_uc002hzq.2_Missense_Mutation_p.C191F|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.C198F|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.C148F|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.C148F|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.C50F NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 191 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TGGCGGGTATGCCGGGGAAAT 0.532 8 69 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44108963 44108963 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:44108963C>A uc002ikb.2 - 14 3282 c.3197G>T c.(3196-3198)CGC>CTC p.R1066L KIAA1267_uc002ikc.2_Missense_Mutation_p.R1066L|KIAA1267_uc002ikd.2_Missense_Mutation_p.R1066L|KIAA1267_uc010dav.2_Missense_Mutation_p.R1065L|KIAA1267_uc010wkb.1_Missense_Mutation_p.R397L|KIAA1267_uc010wkc.1_Missense_Mutation_p.R334L NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 1066 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) GCCTGAGGTGCGTCGAGTGCA 0.687 36 3 --- --- --- --- PASS MAP2K6 5608 broad.mit.edu 37 17 67513001 67513001 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:67513001C>A uc002jij.2 + 3 377 c.89C>A c.(88-90)CCT>CAT p.P30H MAP2K6_uc002jii.2_Missense_Mutation_p.P30H|MAP2K6_uc002jik.2_Missense_Mutation_p.P60H NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 30 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) CTTAGACCACCTCGAGATTTA 0.373 95 14 --- --- --- --- PASS GAA 2548 broad.mit.edu 37 17 78085891 78085891 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:78085891C>T uc002jxo.2 + 13 1928 c.1746C>T c.(1744-1746)GCC>GCT p.A582A GAA_uc002jxp.2_Silent_p.A582A|GAA_uc002jxq.2_Silent_p.A582A NM_001079803 NP_001073271 P10253 LYAG_HUMAN acid alpha-glucosidase preproprotein 582 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AAGCCATCGCCTCCCACAGGT 0.652 77 14 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80788546 80788546 + Silent SNP G A A rs138155684 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr17:80788546G>A uc002kga.2 - 3 1955 c.1644C>T c.(1642-1644)GAC>GAT p.D548D TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 548 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGAGTGGAAGGTCCTGCAGCT 0.607 163 26 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2937714 2937714 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:2937714C>A uc002klo.2 - 7 1383 c.1144G>T c.(1144-1146)GTA>TTA p.V382L NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 382 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGCGAGTCTACTTTAGCTGCC 0.443 55 50 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5428401 5428401 + Silent SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:5428401G>T uc002kmt.1 - 9 1062 c.976C>A c.(976-978)CGG>AGG p.R326R EPB41L3_uc010wzh.1_Silent_p.R326R|EPB41L3_uc002kmu.1_Silent_p.R326R|EPB41L3_uc010dkq.1_Silent_p.R217R|EPB41L3_uc010dks.1_Silent_p.R348R NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 326 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 ATTCGCAGCCGGTCGCGATAT 0.418 135 152 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7037633 7037633 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:7037633G>T uc002knm.2 - 12 1775 c.1681C>A c.(1681-1683)CAG>AAG p.Q561K LAMA1_uc010wzj.1_Missense_Mutation_p.Q37K NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 561 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCAGTCTCTGCATGACCGCG 0.577 60 82 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7037634 7037634 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:7037634C>T uc002knm.2 - 12 1774 c.1680G>A c.(1678-1680)ATG>ATA p.M560I LAMA1_uc010wzj.1_Missense_Mutation_p.M36I NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 560 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGTCTCTGCATGACCGCGG 0.577 59 83 --- --- --- --- PASS ESCO1 114799 broad.mit.edu 37 18 19154258 19154258 + Nonsense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:19154258T>A uc002kth.1 - 4 1481 c.547A>T c.(547-549)AAG>TAG p.K183* ESCO1_uc002kti.1_RNA NM_052911 NP_443143 Q5FWF5 ESCO1_HUMAN establishment of cohesion 1 homolog 1 183 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding 0 GAGTCAGACTTTACTTCCAGT 0.348 10 209 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66513560 66513560 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:66513560G>T uc002lkk.2 + 6 1061 c.838G>T c.(838-840)GCT>TCT p.A280S CCDC102B_uc002lki.2_Missense_Mutation_p.A280S|CCDC102B_uc002lkj.1_Missense_Mutation_p.A280S NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 280 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AATGCGCACAGCTTTGGAAAA 0.328 24 50 --- --- --- --- PASS ADNP2 22850 broad.mit.edu 37 18 77875529 77875529 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr18:77875529T>G uc002lnw.2 + 2 559 c.104T>G c.(103-105)CTG>CGG p.L35R NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 35 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AAGGAGTTACTGAAGGTAAGA 0.413 30 40 --- --- --- --- PASS SPPL2B 56928 broad.mit.edu 37 19 2337594 2337594 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:2337594C>A uc002lvs.2 + 3 419 c.339C>A c.(337-339)CGC>CGA p.R113R SPPL2B_uc010dsw.1_Silent_p.R85R|SPPL2B_uc010dsy.1_Silent_p.R85R|SPPL2B_uc010dsz.1_Silent_p.R113R|SPPL2B_uc002lvr.2_Silent_p.R113R|SPPL2B_uc010dta.1_5'Flank|SPPL2B_uc002lvu.2_5'Flank NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 113 Cytoplasmic (Potential).|PA. Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGAGCACGCGGGCTGCTCA 0.692 34 23 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6833552 6833552 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:6833552C>G uc002mfu.1 + 17 1721 c.1624C>G c.(1624-1626)CAG>GAG p.Q542E VAV1_uc010xjh.1_Missense_Mutation_p.Q510E|VAV1_uc010dva.1_Missense_Mutation_p.Q542E|VAV1_uc002mfv.1_Missense_Mutation_p.Q487E NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 542 Phorbol-ester/DAG-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TACCTTCTATCAGGGCTACCG 0.547 109 76 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9058161 9058161 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:9058161A>T uc002mkp.2 - 3 29489 c.29285T>A c.(29284-29286)CTC>CAC p.L9762H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9764 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGCCTGGGAGGATAAGTGA 0.488 11 39 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9075886 9075886 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:9075886C>T uc002mkp.2 - 3 11764 c.11560G>A c.(11560-11562)GGG>AGG p.G3854R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3855 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGTCTGCCCTTGTCTCTGA 0.483 68 73 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9089841 9089841 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:9089841C>A uc002mkp.2 - 1 2178 c.1974G>T c.(1972-1974)ACG>ACT p.T658T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 658 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGCCAGCAGCCGTCTTGCTCA 0.532 97 97 --- --- --- --- PASS OR7G3 390883 broad.mit.edu 37 19 9236952 9236952 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:9236952G>A uc010xkl.1 - 1 675 c.675C>T c.(673-675)GTC>GTT p.V225V NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAATTTTCATGACAGAGGAGA 0.423 40 93 --- --- --- --- PASS ZNF559 84527 broad.mit.edu 37 19 9453741 9453741 + Silent SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:9453741G>T uc002mlg.2 + 7 2261 c.1614G>T c.(1612-1614)GTG>GTT p.V538V ZNF559_uc002mlf.2_Silent_p.V307V|ZNF559_uc010dwl.1_Silent_p.V307V|ZNF559_uc010xkn.1_Silent_p.V530V|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.V602V|ZNF559_uc010dwk.1_Silent_p.V307V|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGAATGTGTGTGAATTGGGG 0.393 46 98 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10600417 10600417 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:10600417C>A uc002moq.1 - 4 1594 c.1438G>T c.(1438-1440)GGG>TGG p.G480W KEAP1_uc002mop.1_Missense_Mutation_p.G198W|KEAP1_uc002mor.1_Missense_Mutation_p.G480W NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 480 Kelch 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGGTTTGTCCCGTCAAAGCCC 0.582 32 17 --- --- --- --- PASS RGL3 57139 broad.mit.edu 37 19 11510944 11510944 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:11510944G>T uc002mrp.2 - 14 1578 c.1514C>A c.(1513-1515)CCA>CAA p.P505Q RGL3_uc002mrn.2_Missense_Mutation_p.P269Q|RGL3_uc002mrm.2_Missense_Mutation_p.P269Q|RGL3_uc002mro.2_Missense_Mutation_p.P505Q NM_001035223 NP_001030300 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation 505 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular ovary(1) 1 GGAGGCAGCTGGTGGCTCAAT 0.607 44 42 --- --- --- --- PASS ZNF44 51710 broad.mit.edu 37 19 12383910 12383910 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:12383910T>A uc010xmj.1 - 5 1509 c.1304A>T c.(1303-1305)CAC>CTC p.H435L ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.H387L NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 435 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) ATCTCCAGTGTGTGCCATCAT 0.428 58 47 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934929 30934929 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:30934929G>C uc002nsu.1 + 2 598 c.460G>C c.(460-462)GGC>CGC p.G154R ZNF536_uc010edd.1_Missense_Mutation_p.G154R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CACGCACACGGGCGAGAAGCC 0.642 32 48 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31040372 31040372 + Silent SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:31040372T>A uc002nsu.1 + 4 3984 c.3846T>A c.(3844-3846)CTT>CTA p.L1282L ZNF536_uc010edd.1_Silent_p.L1282L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTAACGGACTTGCAAGTAGCA 0.502 63 99 --- --- --- --- PASS ZNF30 90075 broad.mit.edu 37 19 35424541 35424541 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:35424541G>T uc010edp.1 + 4 548 c.170G>T c.(169-171)CGT>CTT p.R57L ZNF30_uc002nxf.2_5'UTR|ZNF30_uc010edq.1_Missense_Mutation_p.R58L|ZNF30_uc010edr.1_Missense_Mutation_p.R58L NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) GGACATTCCCGTTCTAAACCA 0.378 9 7 --- --- --- --- PASS HPN 3249 broad.mit.edu 37 19 35551594 35551594 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:35551594C>T uc002nxq.1 + 10 929 c.684C>T c.(682-684)CAC>CAT p.H228H HPN_uc002nxr.1_Silent_p.H228H|HPN_uc002nxs.1_Silent_p.H70H|HPN_uc010xsh.1_Silent_p.H197H|HPN_uc002nxt.1_Silent_p.H112H|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 228 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CCTCTCCCCACGGTCTGCAGC 0.662 4 110 --- --- --- --- PASS CD22 933 broad.mit.edu 37 19 35837481 35837481 + Missense_Mutation SNP A C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:35837481A>C uc010edt.2 + 14 2502 c.2425A>C c.(2425-2427)AAC>CAC p.N809H CD22_uc010xst.1_Missense_Mutation_p.N637H|CD22_uc010edu.2_Missense_Mutation_p.N721H|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.N632H|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 809 Cytoplasmic (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CGACTATGAGAACGTCATTCC 0.547 6 14 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36277800 36277800 + Silent SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:36277800C>T uc002obr.1 + 20 2513 c.2428C>T c.(2428-2430)CTG>TTG p.L810L ARHGAP33_uc002obs.1_Silent_p.L649L|ARHGAP33_uc002obt.1_Silent_p.L674L|ARHGAP33_uc010eel.2_Silent_p.L398L|ARHGAP33_uc002obv.1_Silent_p.L398L NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 810 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TGTCCTAGAACTGCTGGGGGC 0.706 3 23 --- --- --- --- PASS ZFP14 57677 broad.mit.edu 37 19 36831374 36831374 + Missense_Mutation SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:36831374A>G uc002odx.1 - 4 1447 c.1354T>C c.(1354-1356)TAT>CAT p.Y452H ZFP14_uc010xtd.1_Missense_Mutation_p.Y453H|ZFP14_uc010eex.1_Missense_Mutation_p.Y452H NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 452 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TTACATTCATAAGGTTTCTCA 0.398 41 193 --- --- --- --- PASS ZNF607 84775 broad.mit.edu 37 19 38189345 38189345 + Missense_Mutation SNP A G G rs146672126 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:38189345A>G uc002ohc.1 - 5 2283 c.1687T>C c.(1687-1689)TGT>CGT p.C563R ZNF607_uc002ohb.1_Missense_Mutation_p.C562R NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 563 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CATTCCTTACATTCGTAGGGT 0.418 58 58 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43579557 43579557 + Missense_Mutation SNP G A A rs146901045 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:43579557G>A uc002ovr.2 - 3 751 c.658C>T c.(658-660)CGG>TGG p.R220W PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.R220W|PSG2_uc010eiq.1_Missense_Mutation_p.R220W|PSG2_uc002ovs.3_Missense_Mutation_p.R220W|PSG2_uc002ovt.3_Missense_Mutation_p.R220W NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 220 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) CCTGAGTTCCGTATTTCACAT 0.507 196 302 --- --- --- --- PASS ZNF285 26974 broad.mit.edu 37 19 44891930 44891930 + Silent SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:44891930G>T uc002ozd.3 - 4 564 c.477C>A c.(475-477)CCC>CCA p.P159P ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.P166P NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 GAGAGTTCTGGGGCTCGGTCA 0.443 80 141 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45899676 45899676 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:45899676C>T uc002pbn.2 - 5 808 c.731G>A c.(730-732)CGG>CAG p.R244Q PPP1R13L_uc002pbo.2_Missense_Mutation_p.R244Q|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R244Q NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 244 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGGAGGCCGCCGGCGCAGCGT 0.652 32 51 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46355645 46355645 + Splice_Site SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:46355645T>C uc002pdn.2 - 5 471 c.226_splice c.e5-1 p.E76_splice SYMPK_uc002pdo.1_Splice_Site_p.E76_splice|SYMPK_uc002pdp.1_Splice_Site_p.E76_splice|SYMPK_uc002pdq.1_Splice_Site_p.E76_splice NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GATGATCTCCTGCCAATGTTA 0.527 68 104 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46834442 46834442 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:46834442A>T uc002peh.2 + 13 1771 c.1742A>T c.(1741-1743)GAC>GTC p.D581V HIF3A_uc002peg.3_Missense_Mutation_p.D581V|HIF3A_uc002pei.3_Missense_Mutation_p.D525V|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D525V|HIF3A_uc010xxy.1_Missense_Mutation_p.D512V|HIF3A_uc002pel.2_Missense_Mutation_p.D579V|HIF3A_uc010xxz.1_Missense_Mutation_p.D530V NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 581 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GAGGACGAGGACGAGGGAGTG 0.567 32 66 --- --- --- --- PASS FAM83E 54854 broad.mit.edu 37 19 49107101 49107101 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:49107101C>T uc002pjn.2 - 4 891 c.826G>A c.(826-828)GCC>ACC p.A276T SPACA4_uc002pjo.2_5'Flank NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 276 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) AGGCTGAAGGCGTCAACAATT 0.672 26 40 --- --- --- --- PASS ZNF836 162962 broad.mit.edu 37 19 52659713 52659713 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:52659713T>C uc010ydi.1 - 5 1597 c.1223A>G c.(1222-1224)CAT>CGT p.H408R ZNF836_uc010ydj.1_Missense_Mutation_p.H408R NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 408 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTTTCCACTATGAACTGTCTG 0.418 6 165 --- --- --- --- PASS TTYH1 57348 broad.mit.edu 37 19 54940526 54940526 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:54940526G>A uc002qfq.2 + 6 868 c.776G>A c.(775-777)GGC>GAC p.G259D TTYH1_uc010yey.1_Missense_Mutation_p.G308D|TTYH1_uc002qfr.2_Missense_Mutation_p.G259D|TTYH1_uc002qft.2_Missense_Mutation_p.G259D|TTYH1_uc002qfu.1_Missense_Mutation_p.G171D NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 259 Helical; Name=4; (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CTGAGCTGGGGCTCCATGGGC 0.622 62 81 --- --- --- --- PASS RDH13 112724 broad.mit.edu 37 19 55559778 55559778 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:55559778T>C uc002qio.3 - 5 762 c.577A>G c.(577-579)AAG>GAG p.K193E RDH13_uc002qip.2_Missense_Mutation_p.K122E|RDH13_uc010esr.1_RNA NM_001145971 NP_001139443 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 isoform 1 193 binding|oxidoreductase activity large_intestine(1)|ovary(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) GTGTTATACTTCCTCGTCTGC 0.592 47 72 --- --- --- --- PASS SAPS1 22870 broad.mit.edu 37 19 55743015 55743015 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:55743015G>A uc002qjw.3 - 20 2570 c.2328C>T c.(2326-2328)CCC>CCT p.P776P TMEM86B_uc002qjt.2_5'Flank|TMEM86B_uc002qju.2_5'Flank|SAPS1_uc002qjv.2_Silent_p.P838P NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 776 Pro-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GAGGTGCTGAGGGGGGTGTGG 0.672 19 2 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57175617 57175617 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:57175617T>C uc010ygo.1 - 2 1016 c.1016A>G c.(1015-1017)CAG>CGG p.Q339R ZNF835_uc010ygn.1_Missense_Mutation_p.Q317R NM_001005850 NP_001005850 zinc finger protein 835 p.G334fs*26(1) pancreas(3)|skin(1) 4 AGAGGCGCTCTGGCTGAAGAG 0.701 4 8 --- --- --- --- PASS DUXA 503835 broad.mit.edu 37 19 57669821 57669821 + Missense_Mutation SNP G A A rs145101590 TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:57669821G>A uc002qoa.1 - 4 358 c.313C>T c.(313-315)CGT>TGT p.R105C NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 105 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TAGGTGGTACGACACCGTCTG 0.468 51 82 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57910184 57910184 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:57910184G>T uc002qom.2 + 3 779 c.529G>T c.(529-531)GAG>TAG p.E177* ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Nonsense_Mutation_p.E180* NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCTCAAAGCGAGTGGAAGCC 0.512 36 53 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58549521 58549521 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:58549521G>T uc002qrc.1 + 3 564 c.317G>T c.(316-318)TGC>TTC p.C106F ZSCAN1_uc002qra.1_Missense_Mutation_p.C106F|ZSCAN1_uc002qrb.1_Missense_Mutation_p.C106F NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 106 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCCGAAGCTGCAGGGAGGCC 0.692 7 9 --- --- --- --- PASS ZBTB45 84878 broad.mit.edu 37 19 59028370 59028370 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr19:59028370T>A uc002qtd.2 - 2 963 c.671A>T c.(670-672)GAA>GTA p.E224V ZBTB45_uc002qte.2_Missense_Mutation_p.E224V|ZBTB45_uc002qtf.2_Missense_Mutation_p.E224V NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GCCGCCACCTTCGCCATCCTC 0.662 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 118 339 --- --- --- --- PASS C20orf103 24141 broad.mit.edu 37 20 9510324 9510324 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr20:9510324G>C uc002wni.1 + 6 929 c.700G>C c.(700-702)GAA>CAA p.E234Q C20orf103_uc010zrc.1_Missense_Mutation_p.E190Q NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 234 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) GGAGCAACTGGAAGAAACCTT 0.483 46 87 --- --- --- --- PASS TASP1 55617 broad.mit.edu 37 20 13509103 13509103 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr20:13509103T>C uc002woi.2 - 10 968 c.851A>G c.(850-852)TAC>TGC p.Y284C TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.Y261C|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 284 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 AGCTGTGGAGTAGGGGTTATG 0.368 11 23 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35444018 35444018 + Nonsense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr20:35444018G>T uc002xgd.1 - 5 1440 c.1113C>A c.(1111-1113)TGC>TGA p.C371* C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 371 0 Myeloproliferative disorder(115;0.00874) GCGTACTCTGGCAGGAGGCGA 0.667 6 11 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10952962 10952962 + Missense_Mutation SNP T C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:10952962T>C uc002yip.1 - 9 603 c.235A>G c.(235-237)AGC>GGC p.S79G TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S61G|TPTE_uc002yir.1_Missense_Mutation_p.S41G|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 79 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAATCTTGCTGCTGCAAAAA 0.259 12 82 --- --- --- --- PASS HSPA13 6782 broad.mit.edu 37 21 15746135 15746135 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:15746135C>T uc002yjt.2 - 5 1288 c.1219G>A c.(1219-1221)GGC>AGC p.G407S HSPA13_uc011abx.1_Missense_Mutation_p.G199S NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 407 endoplasmic reticulum|microsome ATP binding kidney(1) 1 CGAGTGGAGCCCCCAACTAAA 0.448 65 140 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35140086 35140086 + Silent SNP A G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:35140086A>G uc002yta.1 + 11 1264 c.996A>G c.(994-996)GAA>GAG p.E332E DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.E332E|ITSN1_uc010gmg.2_Silent_p.E295E|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Silent_p.E332E|ITSN1_uc010gmi.2_Silent_p.E295E|ITSN1_uc010gmj.2_Silent_p.E216E|ITSN1_uc002ysy.2_Silent_p.E332E|ITSN1_uc002ysx.2_Silent_p.E295E|ITSN1_uc002ytb.1_Silent_p.E332E|ITSN1_uc002ytc.1_Silent_p.E332E|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.E295E|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Silent_p.E332E|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.E266E NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 332 KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TACCAGAGGAACCAGTTTTAG 0.358 22 62 --- --- --- --- PASS TTC3 7267 broad.mit.edu 37 21 38459620 38459620 + Silent SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:38459620T>A uc002yvz.2 + 2 168 c.63T>A c.(61-63)CCT>CCA p.P21P TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Silent_p.P21P|TTC3_uc002ywb.2_Silent_p.P21P|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Silent_p.P21P NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 21 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) AAGATTGCCCTCACGTGGATG 0.428 238 176 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46330676 46330676 + Silent SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:46330676G>A uc002zgd.2 - 1 66 c.22C>T c.(22-24)CTG>TTG p.L8L ITGB2_uc002zge.2_Silent_p.L8L|ITGB2_uc002zgf.3_Silent_p.L8L|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.L8L|ITGB2_uc002zgg.2_Silent_p.L8L NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 8 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) AGGGCGAGCAGTGGGGGGCGC 0.662 11 5 --- --- --- --- PASS PRMT2 3275 broad.mit.edu 37 21 48068521 48068521 + Missense_Mutation SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr21:48068521G>T uc002zjx.2 + 6 793 c.479G>T c.(478-480)CGG>CTG p.R160L PRMT2_uc002zjw.2_Missense_Mutation_p.R160L|PRMT2_uc002zjy.2_Missense_Mutation_p.R160L|PRMT2_uc010gqm.2_Missense_Mutation_p.R160L|PRMT2_uc011aga.1_Missense_Mutation_p.R160L|PRMT2_uc011agb.1_Missense_Mutation_p.R160L|PRMT2_uc011agc.1_Missense_Mutation_p.R160L|PRMT2_uc002zjz.1_Missense_Mutation_p.R46L NM_206962 NP_996845 P55345 ANM2_HUMAN HMT1 hnRNP methyltransferase-like 1 160 Interaction with RB1 (By similarity).|Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity ovary(1) 1 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) CACTATGCGCGGCCTAGAGCG 0.577 40 119 --- --- --- --- PASS PEX26 55670 broad.mit.edu 37 22 18567938 18567938 + Missense_Mutation SNP C T T rs149153003 byFrequency TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:18567938C>T uc002znp.3 + 5 937 c.728C>T c.(727-729)GCG>GTG p.A243V TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A243V|PEX26_uc002znt.2_Intron NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 243 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 TGGGACTCTGCGGTGAGCCAC 0.542 21 112 --- --- --- --- PASS GAL3ST1 9514 broad.mit.edu 37 22 30952021 30952021 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:30952021C>A uc003aig.1 - 4 331 c.191G>T c.(190-192)CGG>CTG p.R64L GAL3ST1_uc003aih.1_Missense_Mutation_p.R64L|GAL3ST1_uc003aii.1_Missense_Mutation_p.R64L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R64L NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 64 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GCCGTTGGCCCGGATCACTGC 0.682 22 44 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31836783 31836783 + Missense_Mutation SNP A T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:31836783A>T uc003akz.1 - 18 2787 c.2623T>A c.(2623-2625)TAC>AAC p.Y875N EIF4ENIF1_uc003akx.1_Missense_Mutation_p.Y530N|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.Y555N|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.Y875N|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.Y701N|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.Y365N NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 875 nucleus protein binding|protein transporter activity ovary(1) 1 GGTAAAGGGTAAAAGGGCTGA 0.527 57 97 --- --- --- --- PASS BAIAP2L2 80115 broad.mit.edu 37 22 38503901 38503901 + Missense_Mutation SNP C T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:38503901C>T uc003auw.2 - 4 378 c.234G>A c.(232-234)ATG>ATA p.M78I NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 78 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) GGGTGTCAGACATCTGCACCA 0.612 51 116 --- --- --- --- PASS ATF4 468 broad.mit.edu 37 22 39917980 39917980 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:39917980T>A uc003axz.2 + 3 709 c.429T>A c.(427-429)CAT>CAA p.H143Q ATF4_uc011aol.1_Missense_Mutation_p.H55Q|ATF4_uc003aya.2_Missense_Mutation_p.H143Q NM_182810 NP_877962 P18848 ATF4_HUMAN activating transcription factor 4 143 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Melanoma(58;0.04) CAATTGGCCATCTCCCAGAAA 0.532 270 220 --- --- --- --- PASS PPPDE2 27351 broad.mit.edu 37 22 42003316 42003316 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:42003316G>A uc003ban.1 - 3 203 c.130C>T c.(130-132)CAC>TAC p.H44Y PPPDE2_uc011apb.1_Intron NM_015704 NP_056519 Q6ICB0 PPDE2_HUMAN PPPDE peptidase domain containing 2 44 PPPDE peptidase. 0 TCATCCTTGTGCACAACTATG 0.493 47 37 --- --- --- --- PASS TNFRSF13C 115650 broad.mit.edu 37 22 42322214 42322214 + Silent SNP G T T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:42322214G>T uc003bbl.2 - 2 302 c.258C>A c.(256-258)GGC>GGA p.G86G WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|TNFRSF13C_uc010gyp.1_Silent_p.G87G NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN BAFF receptor 86 Helical; Signal-anchor for type III membrane protein; (Potential). integral to membrane receptor activity 0 ccagtgccaggcccagcAGCG 0.657 3 23 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47108146 47108146 + Nonsense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr22:47108146C>A uc003bia.2 - 4 531 c.424G>T c.(424-426)GGA>TGA p.G142* CERK_uc010hae.2_Translation_Start_Site NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 142 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGTCCTTTTCCTCCAAACGGG 0.393 57 60 --- --- --- --- PASS ASB9 140462 broad.mit.edu 37 X 15268561 15268561 + Missense_Mutation SNP G C C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:15268561G>C uc004cwl.2 - 5 806 c.559C>G c.(559-561)CTG>GTG p.L187V ASB9_uc004cwk.2_Missense_Mutation_p.L187V|ASB9_uc004cwm.2_Missense_Mutation_p.L177V|ASB9_uc010ner.2_Missense_Mutation_p.L187V|ASB9_uc004cwn.2_Missense_Mutation_p.L158V NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 187 ANK 5. intracellular signal transduction 0 Hepatocellular(33;0.183) CCTGACTCCAGAAGCTTCTTG 0.348 90 20 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32361367 32361367 + Missense_Mutation SNP T G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:32361367T>G uc004dda.1 - 40 5867 c.5623A>C c.(5623-5625)ATT>CTT p.I1875L DMD_uc004dcw.2_Missense_Mutation_p.I531L|DMD_uc004dcx.2_Missense_Mutation_p.I534L|DMD_uc004dcz.2_Missense_Mutation_p.I1752L|DMD_uc004dcy.1_Missense_Mutation_p.I1871L|DMD_uc004ddb.1_Missense_Mutation_p.I1867L|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1875 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGATGAGAAATTTCTAGAGCC 0.393 76 10 --- --- --- --- PASS PJA1 64219 broad.mit.edu 37 X 68382648 68382648 + Missense_Mutation SNP T A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:68382648T>A uc004dxh.2 - 2 720 c.434A>T c.(433-435)AAG>ATG p.K145M PJA1_uc011mpi.1_Translation_Start_Site|PJA1_uc004dxg.2_Intron|PJA1_uc004dxi.2_Missense_Mutation_p.K90M NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 145 zinc ion binding 0 ATCTTTAAACTTGCCAGTTTT 0.517 17 1 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70597469 70597469 + Missense_Mutation SNP G A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:70597469G>A uc004dzu.3 + 6 779 c.728G>A c.(727-729)CGT>CAT p.R243H BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R264H NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 243 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CGTTTTCTACGTCTTTTTGGA 0.473 17 48 --- --- --- --- PASS SLC16A2 6567 broad.mit.edu 37 X 73740856 73740856 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:73740856C>A uc004ebt.2 + 2 850 c.684C>A c.(682-684)ATC>ATA p.I228I NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 154 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) TGGGTATGATCTTCTTCTGTT 0.522 101 12 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88009119 88009119 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:88009119C>A uc004efd.3 + 3 963 c.704C>A c.(703-705)TCT>TAT p.S235Y CPXCR1_uc004efc.3_Missense_Mutation_p.S235Y NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 235 intracellular zinc ion binding ovary(3) 3 ATTGTGAGGTCTGTGCTCTTT 0.358 17 4 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090590 91090590 + Silent SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:91090590C>A uc004efk.1 + 1 932 c.87C>A c.(85-87)ACC>ACA p.T29T PCDH11X_uc004efl.1_Silent_p.T29T|PCDH11X_uc004efo.1_Silent_p.T29T|PCDH11X_uc010nmv.1_Silent_p.T29T|PCDH11X_uc004efm.1_Silent_p.T29T|PCDH11X_uc004efn.1_Silent_p.T29T|PCDH11X_uc004efh.1_Silent_p.T29T|PCDH11X_uc004efj.1_Silent_p.T29T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 29 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AAAACTACACCATCCGAGAAG 0.493 79 10 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125298566 125298566 + Missense_Mutation SNP C G G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:125298566C>G uc004euk.1 - 1 1369 c.1342G>C c.(1342-1344)GGG>CGG p.G448R NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 448 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GGGAGAGGCCCCCCAGCCACA 0.562 45 14 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142717087 142717087 + Missense_Mutation SNP C A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chrX:142717087C>A uc004fbx.2 - 2 2214 c.1838G>T c.(1837-1839)GGG>GTG p.G613V SLITRK4_uc004fby.2_Missense_Mutation_p.G613V NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 613 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGGCACTGGCCCACCAGGAGG 0.458 91 13 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196227362 196227362 + Frame_Shift_Del DEL T - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr1:196227362delT uc001gtd.1 - 26 3233 c.3173delA c.(3172-3174)AATfs p.N1058fs KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Frame_Shift_Del_p.N991fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.N1034fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Frame_Shift_Del_p.N562fs NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1058 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTTCATTCTATTTTTCACAAG 0.393 32 181 --- --- --- --- SNTG2 54221 broad.mit.edu 37 2 1241743 1241743 + Frame_Shift_Del DEL G - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:1241743delG uc002qwq.2 + 10 931 c.803delG c.(802-804)TGGfs p.W268fs SNTG2_uc010ewi.2_Frame_Shift_Del_p.W141fs NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 268 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GGCACCGACTGGCTGCGGGCG 0.582 2 7 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179664389 179664397 + In_Frame_Del DEL GCCCAGCGG - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr2:179664389_179664397delGCCCAGCGG uc002und.2 - 6 956_964 c.731_739delCCGCTGGGC c.(730-741)GCCGCTGGGCAA>GAA p.244_247AAGQ>E TTN_uc010zfg.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfh.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfi.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc010zfj.1_In_Frame_Del_p.244_247AAGQ>E|TTN_uc002unb.2_In_Frame_Del_p.244_247AAGQ>E Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 244_247 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) GGCAGCTGTTGCCCAGCGGCACCATCTAT 0.493 42 26 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14551459 14551459 + Frame_Shift_Del DEL G - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:14551459delG uc011avi.1 - 18 2241 c.2241delC c.(2239-2241)ACCfs p.T747fs GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Frame_Shift_Del_p.T278fs NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 649 synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 CGGCACCTGTGGTCTCCAGCT 0.547 4 2 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168833655 168833656 + Frame_Shift_Ins INS - A A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr3:168833655_168833656insA uc003ffi.3 - 7 1709_1710 c.1440_1441insT c.(1438-1443)ATTGCTfs p.I480fs MECOM_uc010hwk.1_Frame_Shift_Ins_p.I503fs|MECOM_uc003ffj.3_Frame_Shift_Ins_p.I545fs|MECOM_uc011bpi.1_Frame_Shift_Ins_p.I481fs|MECOM_uc003ffn.3_Frame_Shift_Ins_p.I480fs|MECOM_uc003ffk.2_Frame_Shift_Ins_p.I480fs|MECOM_uc003ffl.2_Frame_Shift_Ins_p.I640fs|MECOM_uc011bpj.1_Frame_Shift_Ins_p.I668fs|MECOM_uc011bpk.1_Frame_Shift_Ins_p.I470fs|MECOM_uc010hwn.2_Frame_Shift_Ins_p.I668fs NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 480_481 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TATTTTTCAGCAATAGAAGCAA 0.426 449 216 --- --- --- --- ZNF703 80139 broad.mit.edu 37 8 37554759 37554760 + Frame_Shift_Del DEL GC - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr8:37554759_37554760delGC uc003xjy.1 + 2 537_538 c.340_341delGC c.(340-342)GCGfs p.A114fs NM_025069 NP_079345 Q9H7S9 ZN703_HUMAN zinc finger protein 703 114 Poly-Ala. adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) CAACTCGGTGGCGGCGGCGGCC 0.733 7 10 --- --- --- --- OR8B8 26493 broad.mit.edu 37 11 124310284 124310284 + Frame_Shift_Del DEL C - - TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx eb955f72-83bf-4635-a7ed-89e4d66e08f4 71cfd62e-551f-4cb5-92c1-d583e1b6c941 g.chr11:124310284delC uc010sal.1 - 1 698 c.698delG c.(697-699)GGCfs p.G233fs NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;0.0277) TTTGGACCTGCCCTCCGTGGA 0.463 33 108 --- --- --- ---