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 SLC2A7 155184 broad.mit.edu 37 1 9083027 9083027 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:9083027G>A uc009vmo.1 - 3 261 c.261C>T c.(259-261)GGC>GGT p.G87G NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 87 Helical; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CCAACAGGCCGCCCAGAGGAA 0.517 35 260 --- --- --- --- PASS FBXO2 26232 broad.mit.edu 37 1 11710680 11710680 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:11710680C>A uc001asj.2 - 2 576 c.234G>T c.(232-234)TGG>TGT p.W78C FBXO2_uc009vna.2_Missense_Mutation_p.W78C|FBXO2_uc009vnb.1_RNA NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 78 F-box. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCTCCTTCCAGCGCAGGC 0.746 3 9 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27057875 27057875 + Missense_Mutation SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:27057875A>T uc001bmv.1 + 3 1956 c.1583A>T c.(1582-1584)CAG>CTG p.Q528L ARID1A_uc001bmt.1_Missense_Mutation_p.Q528L|ARID1A_uc001bmu.1_Missense_Mutation_p.Q528L|ARID1A_uc001bmw.1_Missense_Mutation_p.Q145L NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 528 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCCACATCAGCAGTCCCCG 0.622 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 27 189 --- --- --- --- PASS LCK 3932 broad.mit.edu 37 1 32742069 32742069 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:32742069C>G uc001bux.2 + 8 901 c.763C>G c.(763-765)CAG>GAG p.Q255E LCK_uc001buy.2_Missense_Mutation_p.Q255E|LCK_uc001buz.2_Missense_Mutation_p.Q255E|LCK_uc010ohc.1_Missense_Mutation_p.Q299E|LCK_uc001bva.2_Intron NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 255 Protein kinase.|ATP (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GGGGGCTGGACAGTTCGGGGA 0.677 T TRB@ T-ALL 7 29 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39927568 39927568 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:39927568C>T uc010oiu.1 + 58 16997 c.16866C>T c.(16864-16866)ACC>ACT p.T5622T MACF1_uc010ois.1_Silent_p.T5120T|MACF1_uc001cde.1_5'UTR|MACF1_uc001cdf.1_5'UTR NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7078 EF-hand 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCCCACCACCAAGTTAGAGA 0.383 34 284 --- --- --- --- PASS PLK3 1263 broad.mit.edu 37 1 45271199 45271199 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:45271199G>T uc001cmn.2 + 15 1890 c.1790G>T c.(1789-1791)GGC>GTC p.G597V PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 597 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) ATTCTCAGTGGCTGGGAGCCC 0.602 71 348 --- --- --- --- PASS TAL1 6886 broad.mit.edu 37 1 47689738 47689738 + Missense_Mutation SNP A G G rs147015002 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:47689738A>G uc001cqx.2 - 3 1056 c.479T>C c.(478-480)ATG>ACG p.M160T TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.M160T|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 160 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 GGTGGTGAACATAGGGAAGGC 0.567 T TRD@|SIL lymphoblastic leukemia/biphasic 21 169 --- --- --- --- PASS ORC1L 4998 broad.mit.edu 37 1 52867041 52867041 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:52867041G>T uc001ctt.2 - 3 435 c.216C>A c.(214-216)TTC>TTA p.F72L ORC1L_uc010oni.1_Missense_Mutation_p.F72L|ORC1L_uc001ctu.2_Missense_Mutation_p.F72L|ORC1L_uc009vzd.2_Intron NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 72 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 CACCATCTTCGAACAACTCAA 0.428 22 247 --- --- --- --- PASS FUBP1 8880 broad.mit.edu 37 1 78432396 78432396 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:78432396C>A uc001dii.2 - 7 544 c.455G>T c.(454-456)GGA>GTA p.G152V FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.G173V NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 152 KH 1. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 TTCAGGTGTTCCAGTTAACAT 0.338 23 99 --- --- --- --- PASS FUBP1 8880 broad.mit.edu 37 1 78432397 78432397 + Nonsense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:78432397C>A uc001dii.2 - 7 543 c.454G>T c.(454-456)GGA>TGA p.G152* FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.G173* NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 152 KH 1. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 TCAGGTGTTCCAGTTAACATA 0.338 23 99 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100357256 100357256 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:100357256A>G uc001dsi.1 + 23 3444 c.3044A>G c.(3043-3045)TAT>TGT p.Y1015C AGL_uc001dsj.1_Missense_Mutation_p.Y1015C|AGL_uc001dsk.1_Missense_Mutation_p.Y1015C|AGL_uc001dsl.1_Missense_Mutation_p.Y1015C|AGL_uc001dsm.1_Missense_Mutation_p.Y999C|AGL_uc001dsn.1_Missense_Mutation_p.Y998C NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1015 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) ATTGGTGCATATACCACTCTT 0.393 31 221 --- --- --- --- PASS PTPN22 26191 broad.mit.edu 37 1 114397560 114397560 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:114397560C>T uc001eds.2 - 8 782 c.652G>A c.(652-654)GAT>AAT p.D218N uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.D218N|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.D218N|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.D218N NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 218 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) 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) ACACTGTCATCCTCTTGGTAA 0.413 37 158 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120050217 120050217 + Missense_Mutation SNP G A A rs141328314 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:120050217G>A uc001ehv.1 + 2 263 c.118G>A c.(118-120)GGA>AGA p.G40R HSD3B1_uc001ehw.2_Missense_Mutation_p.G42R NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 40 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CAAGGCCTTCGGACCAGAATT 0.507 27 118 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120050218 120050218 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:120050218G>T uc001ehv.1 + 2 264 c.119G>T c.(118-120)GGA>GTA p.G40V HSD3B1_uc001ehw.2_Missense_Mutation_p.G42V NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 40 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) AAGGCCTTCGGACCAGAATTG 0.502 27 119 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155171258 155171258 + Missense_Mutation SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:155171258G>C uc001fix.2 - 11 1302 c.1279C>G c.(1279-1281)CAC>GAC p.H427D RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.H418D|THBS3_uc001fiz.2_Missense_Mutation_p.H427D|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.H307D|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 427 EGF-like 4. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCATGGATGTGGCAGGGGCTG 0.622 17 115 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156907135 156907135 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:156907135C>A uc001fqo.2 - 38 5266 c.4226G>T c.(4225-4227)CGC>CTC p.R1409L ARHGEF11_uc010phu.1_Missense_Mutation_p.R825L|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R1449L|MIR765_hsa-mir-765|MI0005116_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1409 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCGGCTGGGGCGTCTTGGATC 0.622 6 64 --- --- --- --- PASS CRP 1401 broad.mit.edu 37 1 159683523 159683523 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:159683523T>A uc001ftw.2 - 2 571 c.467A>T c.(466-468)GAG>GTG p.E156V CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 156 Pentaxin. Calcium 1.|Calcium 2. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GGAATCCTGCTCCTGCCCCAA 0.532 53 401 --- --- --- --- PASS CRP 1401 broad.mit.edu 37 1 159683524 159683524 + Nonsense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:159683524C>A uc001ftw.2 - 2 570 c.466G>T c.(466-468)GAG>TAG p.E156* CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 156 Pentaxin. Calcium 1.|Calcium 2. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GAATCCTGCTCCTGCCCCAAG 0.532 53 407 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160128811 160128811 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:160128811G>A uc001fve.3 + 5 1024 c.545G>A c.(544-546)GGA>GAA p.G182E ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 182 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTAATTCGAGGAGGAGAGAAG 0.468 7 78 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067601 190067601 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:190067601G>T uc001gse.1 - 8 2080 c.1848C>A c.(1846-1848)AAC>AAA p.N616K FAM5C_uc010pot.1_Missense_Mutation_p.N514K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 616 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCTTCCATTTGTTCCCCAGAG 0.448 36 429 --- --- --- --- PASS IPO9 55705 broad.mit.edu 37 1 201844012 201844012 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:201844012G>T uc001gwz.2 + 22 2936 c.2886G>T c.(2884-2886)GAG>GAT p.E962D NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 aggaggaggaggaTGGTTTAG 0.318 4 137 --- --- --- --- PASS PIGR 5284 broad.mit.edu 37 1 207103673 207103673 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:207103673T>C uc001hez.2 - 11 2469 c.2285A>G c.(2284-2286)CAG>CGG p.Q762R PIGR_uc009xbz.2_Missense_Mutation_p.Q762R NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 762 Cytoplasmic (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTAGGCTTCCTGGGGGCCGTC 0.637 7 29 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222715355 222715355 + Nonsense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr1:222715355T>A uc001hnh.1 - 3 1175 c.1117A>T c.(1117-1119)AAA>TAA p.K373* NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 373 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCAGCTTACTTGTTCTGAGCA 0.527 20 98 --- --- --- --- PASS CLIP4 79745 broad.mit.edu 37 2 29379276 29379276 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:29379276G>T uc002rmv.2 + 10 1461 c.1222G>T c.(1222-1224)GGT>TGT p.G408C CLIP4_uc002rmu.2_Missense_Mutation_p.G408C|CLIP4_uc010ezm.1_Missense_Mutation_p.G408C|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Missense_Mutation_p.G390C NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 408 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) ATTGCCTCCTGGTGAAGAACT 0.313 13 89 --- --- --- --- PASS EPCAM 4072 broad.mit.edu 37 2 47612313 47612313 + Silent SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:47612313C>G uc002rvx.2 + 8 1225 c.867C>G c.(865-867)TCC>TCG p.S289S EPCAM_uc002rvw.2_Silent_p.S317S NM_002354 NP_002345 P16422 EPCAM_HUMAN epithelial cell adhesion molecule precursor 289 Cytoplasmic (Potential). positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding skin(1) 1 AGGTTATTTCCAGAAAGAAGA 0.338 Lynch_syndrome 51 309 --- --- --- --- PASS GFPT1 2673 broad.mit.edu 37 2 69569383 69569383 + Splice_Site SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:69569383T>A uc002sfh.2 - 12 1231 c.1052_splice c.e12-1 p.V351_splice NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 CCAAATTCACTGAAATAAAAG 0.398 25 200 --- --- --- --- PASS ZNF2 7549 broad.mit.edu 37 2 95847693 95847693 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:95847693G>A uc002suf.2 + 6 1579 c.1117G>A c.(1117-1119)GAA>AAA p.E373K ZNF2_uc002sug.2_Missense_Mutation_p.E331K|ZNF2_uc010yue.1_Missense_Mutation_p.E336K|ZNF2_uc010fhs.2_Missense_Mutation_p.E294K NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 373 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) TGAATGCAGCGAATGCGGGAA 0.527 15 119 --- --- --- --- PASS SLC20A1 6574 broad.mit.edu 37 2 113404520 113404520 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:113404520G>T uc002tib.2 + 2 561 c.115G>T c.(115-117)GTG>TTG p.V39L uc010fkq.1_5'Flank NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 39 Helical; (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 GGCATTCTCCGTGGGAGCCAA 0.493 14 120 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125530467 125530467 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:125530467G>T uc002tno.2 + 17 2986 c.2622G>T c.(2620-2622)TGG>TGT p.W874C CNTNAP5_uc010flu.2_Missense_Mutation_p.W875C NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 874 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ACAACCAATGGCACTATGTCC 0.547 29 170 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141773378 141773378 + Missense_Mutation SNP T G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:141773378T>G uc002tvj.1 - 13 3049 c.2077A>C c.(2077-2079)AAG>CAG p.K693Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 693 Extracellular (Potential).|LDL-receptor class B 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACAGCATCTTTGAAGTCACA 0.418 TSP Lung(27;0.18) 28 121 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 159992709 159992709 + Silent SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:159992709C>G uc002uag.2 + 5 538 c.264C>G c.(262-264)CCC>CCG p.P88P TANC1_uc010fol.1_Silent_p.P88P|TANC1_uc010zcm.1_Silent_p.P88P|TANC1_uc010fom.1_Silent_p.P88P|TANC1_uc002uah.1_5'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 88 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTACAGGTCCCGTCAGGAAGC 0.483 33 200 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162830816 162830816 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:162830816G>A uc002ubx.3 + 24 3401 c.3217G>A c.(3217-3219)GGG>AGG p.G1073R SLC4A10_uc002uby.3_Missense_Mutation_p.G1043R|SLC4A10_uc010zcs.1_Missense_Mutation_p.G1054R NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1073 Cytoplasmic (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 CCCATTGGAAGGGCACTATAG 0.333 4 30 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168104476 168104476 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:168104476A>G uc002udx.2 + 8 6592 c.6574A>G c.(6574-6576)ACA>GCA p.T2192A XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2017A|XIRP2_uc010fpq.2_Missense_Mutation_p.T1970A|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2017 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAGCAAGAAACAAAATATTC 0.408 22 100 --- --- --- --- PASS HAT1 8520 broad.mit.edu 37 2 172844237 172844237 + Nonsense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:172844237C>G uc002uhi.2 + 10 1129 c.1053C>G c.(1051-1053)TAC>TAG p.Y351* HAT1_uc010fqi.2_Nonsense_Mutation_p.Y186*|HAT1_uc002uhj.2_Nonsense_Mutation_p.Y266* NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 351 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) ACAGAAGCTACAGACTGGATA 0.348 27 141 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431690 179431690 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:179431690G>T uc010zfg.1 - 275 71689 c.71465C>A c.(71464-71466)CCA>CAA p.P23822Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P17517Q|TTN_uc010zfi.1_Missense_Mutation_p.P17450Q|TTN_uc010zfj.1_Missense_Mutation_p.P17325Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24749 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) CAAGCTTTTTGGTGGTCCAGG 0.413 33 181 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179590253 179590253 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:179590253T>A uc010zfg.1 - 68 17170 c.16946A>T c.(16945-16947)GAA>GTA p.E5649V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2310V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6576 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) TCTAATCACTTCTTCCTTCTC 0.433 10 94 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621110 179621110 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:179621110G>A uc010zfh.1 - 44 10804 c.10580C>T c.(10579-10581)GCA>GTA p.A3527V TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTCTATCTTTGCACCTTCGTG 0.408 14 98 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197208380 197208380 + Splice_Site SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:197208380C>A uc002utm.1 - 3 583 c.400_splice c.e3+1 p.P134_splice HECW2_uc002utl.1_Splice_Site NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TAGTTACTTACGTTCCATGAA 0.363 16 295 --- --- --- --- PASS INO80D 54891 broad.mit.edu 37 2 206870222 206870222 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:206870222C>A uc002vaz.3 - 11 2359 c.1954G>T c.(1954-1956)GCT>TCT p.A652S NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 652 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 AGCTCCTCAGCCTCTTCGGTA 0.507 8 83 --- --- --- --- PASS MRPL44 65080 broad.mit.edu 37 2 224824686 224824686 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr2:224824686C>T uc002vnr.3 + 2 684 c.615C>T c.(613-615)AGC>AGT p.S205S NM_022915 NP_075066 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 precursor 205 RNase III. RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity central_nervous_system(1) 1 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTTACAGAGCAGTGGACCTG 0.438 17 126 --- --- --- --- PASS C3orf20 84077 broad.mit.edu 37 3 14744711 14744711 + Nonsense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:14744711G>T uc003byy.2 + 6 1224 c.820G>T c.(820-822)GAG>TAG p.E274* C3orf20_uc003byz.2_Nonsense_Mutation_p.E152*|C3orf20_uc003bza.2_Nonsense_Mutation_p.E152*|C3orf20_uc003byx.1_Nonsense_Mutation_p.E274* NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 274 cytoplasm|integral to membrane ovary(3)|skin(1) 4 CAACAGCCTGGAGTTCAGCGA 0.587 35 225 --- --- --- --- PASS NKIRAS1 28512 broad.mit.edu 37 3 23934649 23934649 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:23934649C>G uc003ccj.2 - 5 918 c.516G>C c.(514-516)CAG>CAC p.Q172H NKIRAS1_uc003cck.2_Missense_Mutation_p.Q172H|NKIRAS1_uc003ccl.2_Missense_Mutation_p.Q172H|NKIRAS1_uc003ccm.2_Missense_Mutation_p.Q172H NM_020345 NP_065078 Q9NYS0 KBRS1_HUMAN kappa B-ras 1 172 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity 0 TTGATTTGCTCTGGGGTTGAG 0.378 27 141 --- --- --- --- PASS TREX1 11277 broad.mit.edu 37 3 48508848 48508848 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:48508848G>T uc003ctj.2 + 2 2216 c.959G>T c.(958-960)GGA>GTA p.G320V TREX1_uc010hjy.2_Missense_Mutation_p.G265V|TREX1_uc003ctk.2_Missense_Mutation_p.G126V|TREX1_uc010hjz.2_Missense_Mutation_p.G265V|TREX1_uc010hka.2_Missense_Mutation_p.G320V NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 isoform b 320 G -> R (in Ref. 1; CAB50866). cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCAGCCTTGGAGAGAGCAGG 0.602 Direct_reversal_of_damage|Editing_and_processing_nucleases 4 113 --- --- --- --- PASS GAP43 2596 broad.mit.edu 37 3 115394998 115394998 + Missense_Mutation SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:115394998G>C uc003ebq.2 + 2 555 c.169G>C c.(169-171)GAT>CAT p.D57H GAP43_uc003ebr.2_Missense_Mutation_p.D93H NM_002045 NP_002036 P17677 NEUM_HUMAN growth associated protein 43 isoform 2 57 IQ. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.164) AGAGAAGAAGGATGATGTCCA 0.488 5 110 --- --- --- --- PASS FSTL1 11167 broad.mit.edu 37 3 120122198 120122198 + Silent SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:120122198T>A uc003eds.2 - 8 760 c.585A>T c.(583-585)GGA>GGT p.G195G FSTL1_uc011bjh.1_Silent_p.G160G NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 195 EF-hand 2. BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) CAACACAGAGTCCCCTGAAAC 0.468 16 65 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121410365 121410365 + Missense_Mutation SNP T C C rs116186804 by1000genomes TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:121410365T>C uc003eei.3 - 14 7957 c.7831A>G c.(7831-7833)ATA>GTA p.I2611V GOLGB1_uc010hrc.2_Missense_Mutation_p.I2616V|GOLGB1_uc003eej.3_Missense_Mutation_p.I2577V NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2611 Cytoplasmic (Potential).|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) AGCTGGGATATAGATACTTTC 0.393 33 195 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129370615 129370615 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:129370615C>T uc003emz.3 - 7 2172 c.1671G>A c.(1669-1671)ACG>ACA p.T557T TMCC1_uc003emy.3_Silent_p.T233T|TMCC1_uc011blc.1_Silent_p.T378T|TMCC1_uc010htg.2_Silent_p.T443T NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 557 Potential. integral to membrane skin(1) 1 TGGAGATGCGCGTCTGGCATG 0.587 5 108 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140285066 140285066 + Nonsense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:140285066G>T uc003etn.2 + 17 3029 c.2839G>T c.(2839-2841)GAG>TAG p.E947* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 947 Cytoplasmic (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 AGCCCAGCTGGAGTGGGATGA 0.602 HNSCC(16;0.037) 6 15 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142269086 142269086 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:142269086T>C uc003eux.3 - 14 2986 c.2864A>G c.(2863-2865)CAG>CGG p.Q955R NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 955 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GTCAGCATTCTGGCATGGAGT 0.398 Other_conserved_DNA_damage_response_genes 25 150 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142272128 142272128 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:142272128C>G uc003eux.3 - 13 2868 c.2746G>C c.(2746-2748)GCA>CCA p.A916P NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 916 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CTTTTAGCTGCAACCAGAGCT 0.408 Other_conserved_DNA_damage_response_genes 8 88 --- --- --- --- PASS CPB1 1360 broad.mit.edu 37 3 148563352 148563352 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr3:148563352C>G uc003ewl.2 + 9 943 c.920C>G c.(919-921)TCC>TGC p.S307C NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 307 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CACTCGTACTCCCAAATGATG 0.443 22 140 --- --- --- --- PASS MAN2B2 23324 broad.mit.edu 37 4 6588845 6588845 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:6588845C>G uc003gjf.1 + 4 550 c.514C>G c.(514-516)CTC>GTC p.L172V MAN2B2_uc003gje.1_Missense_Mutation_p.L172V|MAN2B2_uc011bwf.1_Missense_Mutation_p.L172V NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 172 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 CAATGCCCACCTCGGCTCCCG 0.662 4 79 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62679551 62679551 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:62679551C>T uc010ihh.2 + 6 1393 c.1220C>T c.(1219-1221)TCA>TTA p.S407L LPHN3_uc003hcq.3_Missense_Mutation_p.S407L|LPHN3_uc003hcs.1_Missense_Mutation_p.S236L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 407 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ggacaagtttcatacatttct 0.119 11 62 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65274916 65274916 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:65274916C>A uc003hcv.2 - 1 263 c.154G>T c.(154-156)GTC>TTC p.V52F TECRL_uc003hcw.2_Missense_Mutation_p.V52F NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 52 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GAATGTTTGACTGCTGGAGTT 0.358 18 75 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72412222 72412222 + Silent SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:72412222A>G uc003hfy.2 + 19 2715 c.2598A>G c.(2596-2598)GAA>GAG p.E866E SLC4A4_uc010iic.2_Silent_p.E866E|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Silent_p.E866E|SLC4A4_uc003hgc.3_Silent_p.E822E|SLC4A4_uc010iid.2_Silent_p.E70E NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 866 Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CACCTGGAGAACAACCAAAGT 0.483 12 63 --- --- --- --- PASS PPM1K 152926 broad.mit.edu 37 4 89186283 89186283 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:89186283T>A uc003hrm.3 - 6 1247 c.857A>T c.(856-858)CAT>CTT p.H286L NM_152542 NP_689755 Q8N3J5 PPM1K_HUMAN protein phosphatase 1K (PP2C domain containing) 286 PP2C-like. protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) ATCAGCATGATGTAACTGCAA 0.413 31 208 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104082506 104082506 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:104082506G>T uc003hxb.1 - 19 2041 c.1951C>A c.(1951-1953)CTG>ATG p.L651M CENPE_uc003hxc.1_Missense_Mutation_p.L626M NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 651 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTCTCCTTCAGCTCCAGATTT 0.333 20 136 --- --- --- --- PASS CTSO 1519 broad.mit.edu 37 4 156863508 156863508 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:156863508C>T uc003ipg.2 - 3 394 c.345G>A c.(343-345)AGG>AGA p.R115R NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 115 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CCTGCTTGTCCCTCCAGTCAA 0.423 14 123 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177081166 177081166 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr4:177081166G>T uc003iuj.2 + 20 2775 c.2619G>T c.(2617-2619)CAG>CAT p.Q873H WDR17_uc003iuk.2_Missense_Mutation_p.Q849H|WDR17_uc003ium.3_Missense_Mutation_p.Q849H|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q92H NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 873 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AATTAATCCAGGAAGATAAGG 0.338 10 98 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5242297 5242297 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:5242297C>T uc003jdl.2 + 17 2793 c.2655C>T c.(2653-2655)TGC>TGT p.C885C ADAMTS16_uc003jdk.1_Silent_p.C885C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 885 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCGTGTCCTGCGGAGGGGGTA 0.612 11 106 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7802424 7802424 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:7802424G>A uc003jdz.1 + 21 2789 c.2722G>A c.(2722-2724)GAG>AAG p.E908K ADCY2_uc011cmo.1_Missense_Mutation_p.E728K|ADCY2_uc010itm.1_Missense_Mutation_p.E104K NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 908 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGTGAACAAGGAGGGCTTGGA 0.498 21 81 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11732318 11732318 + Nonsense_Mutation SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:11732318A>T uc003jfa.1 - 2 249 c.104T>A c.(103-105)TTA>TAA p.L35* CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 35 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 GGAGGTGTTTAAGCCGGGGCT 0.507 19 176 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13870923 13870923 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:13870923T>C uc003jfd.2 - 24 3829 c.3787A>G c.(3787-3789)ATA>GTA p.I1263V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1263 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCCTCCCTTATTTCTTTCAGC 0.338 Kartagener_syndrome 21 134 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21842274 21842274 + Silent SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:21842274G>C uc010iuc.2 - 5 1268 c.810C>G c.(808-810)CCC>CCG p.P270P CDH12_uc011cno.1_Silent_p.P230P|CDH12_uc003jgk.2_Silent_p.P270P NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 270 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ACATACTTTTGGGGAATCGAG 0.408 HNSCC(59;0.17) 48 213 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 31983589 31983589 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:31983589G>A uc003jhl.2 + 3 1193 c.805G>A c.(805-807)GGC>AGC p.G269S PDZD2_uc003jhm.2_Missense_Mutation_p.G269S|PDZD2_uc011cnx.1_Missense_Mutation_p.G95S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 269 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GCTAGAAAATGGCCCAGATTC 0.557 27 189 --- --- --- --- PASS SLC1A3 6507 broad.mit.edu 37 5 36608603 36608603 + Silent SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:36608603A>G uc003jkj.3 + 2 554 c.78A>G c.(76-78)ACA>ACG p.T26T SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Silent_p.T26T NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 26 Cytoplasmic (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GTAAACGCACACTTTTGGCCA 0.458 60 271 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37169315 37169315 + Missense_Mutation SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:37169315G>C uc011cpa.1 - 34 7042 c.6811C>G c.(6811-6813)CTG>GTG p.L2271V C5orf42_uc011coy.1_Missense_Mutation_p.L771V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.L1346V|C5orf42_uc003jkr.1_Missense_Mutation_p.L304V NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2271 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) CTCTGTGGCAGAGCAGGTTGG 0.478 26 158 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40981570 40981570 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:40981570C>T uc003jmh.2 + 18 2541 c.2427C>T c.(2425-2427)AAC>AAT p.N809N NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 809 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) TGGAAGTGAACGGCAAGGAGC 0.542 8 35 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256546 63256546 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:63256546T>C uc011cqt.1 - 1 1001 c.1001A>G c.(1000-1002)AAG>AGG p.K334R NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 334 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CAGGGCCATCTTGCGCTTCGC 0.597 27 144 --- --- --- --- PASS CCDC125 202243 broad.mit.edu 37 5 68590723 68590723 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:68590723G>A uc003jvv.1 - 8 864 c.821C>T c.(820-822)GCG>GTG p.A274V CCDC125_uc003jvx.1_Missense_Mutation_p.A273V|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.A149V NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 274 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCCGAGGACCGCAAGCTTTAA 0.488 5 196 --- --- --- --- PASS ERAP1 51752 broad.mit.edu 37 5 96126064 96126064 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:96126064G>A uc003kmm.2 - 10 1806 c.1459C>T c.(1459-1461)CCT>TCT p.P487S ERAP1_uc003kml.2_Missense_Mutation_p.P487S|ERAP1_uc010jbm.1_Missense_Mutation_p.P299S|ERAP1_uc003kmn.2_Missense_Mutation_p.P487S NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 487 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CCATCTGTAGGGCAAATCTAA 0.363 23 51 --- --- --- --- PASS RAPGEF6 51735 broad.mit.edu 37 5 130799800 130799800 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:130799800A>G uc003kvn.1 - 18 2620 c.2414T>C c.(2413-2415)GTC>GCC p.V805A RAPGEF6_uc003kvp.1_Missense_Mutation_p.V855A|RAPGEF6_uc003kvo.1_Missense_Mutation_p.V810A|RAPGEF6_uc010jdi.1_Missense_Mutation_p.V805A|RAPGEF6_uc010jdj.1_Missense_Mutation_p.V805A|RAPGEF6_uc003kvq.2_Missense_Mutation_p.V522A|RAPGEF6_uc003kvr.2_Missense_Mutation_p.V805A|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.V805A NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 805 Ras-associating. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTGTTTTATGACACCCTCAGG 0.383 3 114 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140792990 140792990 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr5:140792990C>T uc003lkl.1 + 1 248 c.248C>T c.(247-249)CCG>CTG p.P83L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.P83L NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 83 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCTGAACCCGCGCAGCGGC 0.627 23 127 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 56006603 56006603 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr6:56006603G>A uc003pcs.2 - 12 1754 c.1522C>T c.(1522-1524)CCA>TCA p.P508S COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.P508S|COL21A1_uc003pcu.1_Missense_Mutation_p.P505S NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 508 Collagen-like 1. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCTCGCCCTGGTTCTCCTTTG 0.348 14 96 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100841640 100841640 + Silent SNP G A A rs139715467 byFrequency TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr6:100841640G>A uc003pqj.3 - 10 1500 c.1293C>T c.(1291-1293)GAC>GAT p.D431D SIM1_uc010kcu.2_Silent_p.D431D NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 431 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CGCACGATGCGTCGTGCTGGG 0.612 13 86 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121482134 121482134 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr6:121482134C>A uc003pyo.1 - 23 2707 c.2639G>T c.(2638-2640)GGG>GTG p.G880V C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.G440V NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 880 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TTCCAATGGCCCACCAACAAG 0.388 18 88 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128411045 128411045 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr6:128411045G>A uc003qbk.2 - 8 1622 c.1255C>T c.(1255-1257)CGT>TGT p.R419C PTPRK_uc003qbj.2_Missense_Mutation_p.R419C|PTPRK_uc010kfc.2_Missense_Mutation_p.R419C|PTPRK_uc011ebu.1_Missense_Mutation_p.R419C|PTPRK_uc003qbl.1_Missense_Mutation_p.R289C|PTPRK_uc011ebv.1_Missense_Mutation_p.R419C NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 419 Extracellular (Potential).|Fibronectin type-III 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GTGTGGCAACGCGTAATGTTG 0.463 14 99 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160453653 160453653 + Missense_Mutation SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr6:160453653G>C uc003qta.2 + 8 1101 c.953G>C c.(952-954)TGC>TCC p.C318S NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 318 2.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GAGTATGCCTGCCACAGAGAT 0.478 24 79 --- --- --- --- PASS CHST12 55501 broad.mit.edu 37 7 2472891 2472891 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:2472891A>G uc003smc.2 + 2 752 c.617A>G c.(616-618)CAC>CGC p.H206R CHST12_uc003smd.2_Missense_Mutation_p.H206R NM_018641 NP_061111 Q9NRB3 CHSTC_HUMAN carbohydrate sulfotransferase 12 206 Lumenal (Potential). dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding kidney(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CCGCGCGAGCACGTGCACAAC 0.652 6 34 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11468628 11468628 + Silent SNP A C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:11468628A>C uc003ssf.3 - 14 3441 c.3189T>G c.(3187-3189)CGT>CGG p.R1063R NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1063 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATGGTTTTTCACGCAGCCATT 0.488 HNSCC(18;0.044) 54 360 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15458232 15458232 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:15458232G>A uc003stb.1 - 5 730 c.560C>T c.(559-561)GCT>GTT p.A187V NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 187 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AAGATGAACAGCATATACTGA 0.313 11 84 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31864552 31864552 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:31864552C>A uc003tcm.1 - 13 1804 c.1335G>T c.(1333-1335)ATG>ATT p.M445I PDE1C_uc003tcn.1_Missense_Mutation_p.M445I|PDE1C_uc003tco.1_Missense_Mutation_p.M505I|PDE1C_uc003tcr.2_Missense_Mutation_p.M445I|PDE1C_uc003tcs.2_Missense_Mutation_p.M445I NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 445 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) TCTTCTCGGTCATGTCCGTAA 0.493 22 183 --- --- --- --- PASS ASL 435 broad.mit.edu 37 7 65557066 65557066 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:65557066G>T uc003tuo.2 + 15 1247 c.1136G>T c.(1135-1137)CGC>CTC p.R379L ASL_uc003tup.2_Missense_Mutation_p.R379L|ASL_uc003tur.2_Missense_Mutation_p.R353L|ASL_uc003tuq.2_Missense_Mutation_p.R359L NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 379 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) TACCTGGTCCGCAAAGGGGTA 0.597 44 169 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:72413896A>G uc003twk.2 + 11 3364 c.3364A>G c.(3364-3366)ACC>GCC p.T1122A POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1122 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637 4 13 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91630612 91630612 + Missense_Mutation SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:91630612G>C uc003ulg.2 + 8 1606 c.1381G>C c.(1381-1383)GAG>CAG p.E461Q AKAP9_uc003ule.2_Missense_Mutation_p.E473Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E461Q|AKAP9_uc003uli.2_Missense_Mutation_p.E86Q NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 473 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GGCACAGATGGAGGAAATGAA 0.378 T BRAF papillary thyroid 36 159 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94039566 94039566 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:94039566C>A uc003ung.1 + 20 1519 c.1048C>A c.(1048-1050)CCA>ACA p.P350T COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 350 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGAGCCTGGTCCAGCTGGCTC 0.418 HNSCC(75;0.22) 12 85 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122774500 122774500 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:122774500G>T uc003vkm.2 - 8 921 c.896C>A c.(895-897)TCC>TAC p.S299Y SLC13A1_uc010lks.2_Missense_Mutation_p.S175Y NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 299 Helical; (Potential). integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CCAGATCCAGGATAAGAGTAG 0.413 8 76 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128413743 128413743 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:128413743C>T uc003vnt.3 - 4 887 c.887G>A c.(886-888)TGC>TAC p.C296Y NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 296 Helical; Name=7; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 ATTGTAGATGCAAGCACTCTT 0.473 8 63 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700698 136700698 + Silent SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:136700698C>A uc003vtf.1 + 4 1709 c.1086C>A c.(1084-1086)GCC>GCA p.A362A CHRM2_uc003vtg.1_Silent_p.A362A|CHRM2_uc003vtj.1_Silent_p.A362A|CHRM2_uc003vtk.1_Silent_p.A362A|CHRM2_uc003vtl.1_Silent_p.A362A|CHRM2_uc003vtm.1_Silent_p.A362A|CHRM2_uc003vti.1_Silent_p.A362A|CHRM2_uc003vto.1_Silent_p.A362A|CHRM2_uc003vtn.1_Silent_p.A362A|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 362 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATATTGTAGCCCGCAAGATTG 0.473 10 99 --- --- --- --- PASS KEL 3792 broad.mit.edu 37 7 142640001 142640001 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr7:142640001C>A uc003wcb.2 - 17 2112 c.1902G>T c.(1900-1902)GAG>GAT p.E634D NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 634 Extracellular (Potential). Zinc; catalytic (By similarity). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CTGCAGCATTCTCTAAGAATG 0.517 34 201 --- --- --- --- PASS SORBS3 10174 broad.mit.edu 37 8 22432219 22432219 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:22432219G>T uc003xbv.2 + 21 2334 c.1994G>T c.(1993-1995)GGA>GTA p.G665V SORBS3_uc003xbw.3_Missense_Mutation_p.G323V NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 665 SH3 3.|Binds to SOS. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) ACGTTCCCTGGAAATTACGTT 0.602 OREG0018613 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 133 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59515778 59515778 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:59515778A>G uc003xtt.2 - 13 1250 c.1036T>C c.(1036-1038)TCA>CCA p.S346P NSMAF_uc011lee.1_Missense_Mutation_p.S377P|NSMAF_uc003xtu.2_Missense_Mutation_p.S346P NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 346 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) CCTAGTTCTGAGCTGGAATAA 0.433 32 237 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69021782 69021782 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:69021782G>A uc003xxv.1 + 25 3097 c.3070G>A c.(3070-3072)GAC>AAC p.D1024N PREX2_uc011lez.1_Missense_Mutation_p.D959N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1024 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AGAAACCCAAGACATCTATCA 0.458 25 178 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764061 77764061 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:77764061G>A uc003yav.2 + 10 5156 c.4769G>A c.(4768-4770)GGG>GAG p.G1590E ZFHX4_uc003yau.1_Missense_Mutation_p.G1635E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1590E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1590 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) GTGGCTGGTGGGCACAGCATT 0.502 HNSCC(33;0.089) 10 85 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113253983 113253983 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:113253983T>A uc003ynu.2 - 66 10593 c.10434A>T c.(10432-10434)AGA>AGT p.R3478S CSMD3_uc003yns.2_Missense_Mutation_p.R2680S|CSMD3_uc003ynt.2_Missense_Mutation_p.R3438S|CSMD3_uc011lhx.1_Missense_Mutation_p.R3309S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3478 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAGTGCAGGTCTAGGATCTT 0.299 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 262 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143603331 143603331 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:143603331G>A uc003ywm.2 + 20 3213 c.3030G>A c.(3028-3030)GTG>GTA p.V1010V NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1010 Helical; Name=3; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CACAGGTGGTGTGCACGCTGG 0.692 4 5 --- --- --- --- PASS ZC3H3 23144 broad.mit.edu 37 8 144621338 144621338 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr8:144621338C>T uc003yyd.2 - 2 228 c.199G>A c.(199-201)GGG>AGG p.G67R NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 67 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CACGAAGGCCCATGGTGGGAA 0.667 20 150 --- --- --- --- PASS GLDC 2731 broad.mit.edu 37 9 6553420 6553420 + Missense_Mutation SNP G A A rs121964977 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:6553420G>A uc003zkc.2 - 20 2598 c.2405C>T c.(2404-2406)GCG>GTG p.A802V NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 802 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CCATGGGGCCGCACTGACGGT 0.547 25 84 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14775880 14775880 + Silent SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:14775880A>G uc003zlm.2 - 25 5354 c.4764T>C c.(4762-4764)ACT>ACC p.T1588T FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.T124T NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1588 CSPG 11. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TAAAGCAGTCAGTCTGGGAGT 0.498 19 99 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971082 21971082 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:21971082G>A uc003zpk.2 - 2 488 c.276C>T c.(274-276)GAC>GAT p.D92D MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.H148Y NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 92 ANK 3. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.D92fs*54(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.T93fs*26(1)|p.D92N(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCACCAGCGTGTCCAGGAAGC 0.746 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 8 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37746626 37746626 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:37746626C>G uc004aag.1 + 16 4641 c.4597C>G c.(4597-4599)CAG>GAG p.Q1533E FRMPD1_uc004aah.1_Missense_Mutation_p.Q1533E NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1533 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CACCTACCATCAGTTTATAGA 0.617 38 135 --- --- --- --- PASS ZNF658 26149 broad.mit.edu 37 9 40772779 40772779 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:40772779C>T uc004abs.2 - 5 2648 c.2496G>A c.(2494-2496)GGG>GGA p.G832G ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.G832G NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 832 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGAAAGTTTTCCCACATTGGT 0.408 40 172 --- --- --- --- PASS AGTPBP1 23287 broad.mit.edu 37 9 88272541 88272541 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:88272541C>T uc011ltd.1 - 9 751 c.718G>A c.(718-720)GCT>ACT p.A240T AGTPBP1_uc011ltc.1_Missense_Mutation_p.A138T|AGTPBP1_uc010mqc.2_Missense_Mutation_p.A240T|AGTPBP1_uc011lte.1_Missense_Mutation_p.A292T NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 240 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CTGTCTACAGCTCTCCTGGCA 0.343 3 91 --- --- --- --- PASS PKN3 29941 broad.mit.edu 37 9 131476641 131476641 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:131476641C>T uc004bvw.2 + 11 1871 c.1478C>T c.(1477-1479)CCC>CTC p.P493L PKN3_uc010myh.2_Missense_Mutation_p.P493L|PKN3_uc011mbk.1_Missense_Mutation_p.P43L NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 493 Pro-rich. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 CCTGCCACTCCCAGGTGAGGA 0.622 16 58 --- --- --- --- PASS ASAH2 56624 broad.mit.edu 37 10 52008284 52008284 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr10:52008284G>T uc001jjd.2 - 1 87 c.87C>A c.(85-87)AGC>AGA p.S29R ASAH2_uc009xos.2_Missense_Mutation_p.S29R NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 29 Helical; Signal-anchor for type II membrane protein; (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 TAAACAAGAGGCTGAGAAGGG 0.443 29 93 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 53564377 53564377 + Silent SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr10:53564377C>A uc001jjm.2 + 4 774 c.580C>A c.(580-582)CGA>AGA p.R194R PRKG1_uc001jjn.2_Silent_p.R209R|PRKG1_uc001jjo.2_Silent_p.R209R NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 194 cGMP 1. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GGCCATTGATCGACAATGTTT 0.343 9 74 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67680256 67680256 + Silent SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr10:67680256C>A uc009xpn.1 - 18 2643 c.2520G>T c.(2518-2520)GGG>GGT p.G840G CTNNA3_uc001jmw.2_Silent_p.G840G NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 840 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GGTGCCGGGGCCCAGCAGGAC 0.468 32 194 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70332267 70332267 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr10:70332267G>T uc001jok.3 + 2 677 c.172G>T c.(172-174)GTT>TTT p.V58F NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 58 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 AGAAAGAGATGTTAAGAAAAA 0.423 7 130 --- --- --- --- PASS GPR26 2849 broad.mit.edu 37 10 125426542 125426542 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr10:125426542G>A uc001lhh.2 + 1 672 c.619G>A c.(619-621)GAC>AAC p.D207N NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 207 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CAAGCGCATCGACGTGATCAC 0.642 3 16 --- --- --- --- PASS TALDO1 6888 broad.mit.edu 37 11 755975 755975 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:755975C>A uc001lqz.2 + 2 244 c.194C>A c.(193-195)GCG>GAG p.A65E TALDO1_uc010qwl.1_Missense_Mutation_p.A65E|TALDO1_uc001lra.2_Missense_Mutation_p.A65E NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 65 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GTGGAGGAGGCGATTGCCTAT 0.632 3 57 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1268600 1268600 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:1268600C>G uc009ycr.1 + 50 12200 c.12074C>G c.(12073-12075)GCA>GGA p.A4025G MUC5B_uc001ltb.2_Missense_Mutation_p.A3500G NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3497 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCCCAGCAGCAACCACCAGT 0.662 20 69 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5799147 5799147 + Missense_Mutation SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:5799147A>T uc010qzn.1 - 1 718 c.718T>A c.(718-720)TCA>ACA p.S240T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 240 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CGAGCATCTGATGAAGAGAGG 0.453 10 92 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5799598 5799598 + Silent SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:5799598A>G uc010qzn.1 - 1 267 c.267T>C c.(265-267)AAT>AAC p.N89N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGCAGAGTGCATTGGGTAGAG 0.448 13 132 --- --- --- --- PASS OR56B4 196335 broad.mit.edu 37 11 6129241 6129241 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:6129241G>T uc010qzx.1 + 1 233 c.233G>T c.(232-234)GGC>GTC p.G78V NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 78 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGACATTGGCCTGGCCACC 0.502 7 75 --- --- --- --- PASS NRIP3 56675 broad.mit.edu 37 11 9005642 9005642 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:9005642G>T uc001mhg.2 - 5 706 c.592C>A c.(592-594)CTA>ATA p.L198I NRIP3_uc010rbu.1_3'UTR NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 198 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) AGAGTCTGTAGACCAAGGGAC 0.393 19 203 --- --- --- --- PASS GALNTL4 374378 broad.mit.edu 37 11 11354266 11354266 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:11354266T>C uc001mjo.2 - 8 1812 c.1391A>G c.(1390-1392)TAC>TGC p.Y464C NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 464 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) GATGTCGGAGTACATCCTCAT 0.527 4 82 --- --- --- --- PASS IGSF22 283284 broad.mit.edu 37 11 18745750 18745750 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:18745750C>T uc009yht.2 - 2 224 c.34G>A c.(34-36)GAG>AAG p.E12K IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 12 ovary(4)|large_intestine(2)|kidney(1) 7 GACACGTGCTCCTGCAGCATC 0.592 13 214 --- --- --- --- PASS ALX4 60529 broad.mit.edu 37 11 44286713 44286713 + Silent SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:44286713G>T uc001myb.2 - 4 1031 c.927C>A c.(925-927)CTC>CTA p.L309L NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 309 hair follicle development 0 CGTTGTTGCCGAGCCAGGACG 0.692 3 11 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322397 55322397 + Silent SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:55322397C>A uc010rig.1 + 1 615 c.615C>A c.(613-615)GGC>GGA p.G205G NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GGACAGGGGGCCTCTTGCATT 0.468 HNSCC(20;0.049) 19 162 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258430 56258430 + Silent SNP C A A rs141674595 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:56258430C>A uc001nix.1 - 1 417 c.417G>T c.(415-417)GTG>GTT p.V139V NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 139 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GGAAGGAGCACACACTCTTGG 0.527 21 83 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995755 57995755 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:57995755C>A uc010rkd.1 - 1 593 c.593G>T c.(592-594)CGC>CTC p.R198L NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 198 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) CTGGTGCACGCGGATGTCAGC 0.597 9 48 --- --- --- --- PASS PATL1 219988 broad.mit.edu 37 11 59420456 59420456 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:59420456C>T uc001noe.3 - 10 1300 c.1157G>A c.(1156-1158)GGA>GAA p.G386E PATL1_uc009yms.1_Missense_Mutation_p.G356E|PATL1_uc010rkw.1_Missense_Mutation_p.G91E NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 386 Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 CCGGTGACTTCCTCTATCTCC 0.438 44 214 --- --- --- --- PASS VWCE 220001 broad.mit.edu 37 11 61050268 61050268 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:61050268G>A uc001nra.2 - 6 930 c.651C>T c.(649-651)TCC>TCT p.S217S VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 217 EGF-like 3; calcium-binding (Potential). extracellular region calcium ion binding ovary(1) 1 TACCTACACAGGAGTGCCGGT 0.552 29 274 --- --- --- --- PASS PRKRIR 5612 broad.mit.edu 37 11 76063785 76063785 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:76063785C>A uc001oxh.1 - 5 409 c.409G>T c.(409-411)GCT>TCT p.A137S PRKRIR_uc010rrz.1_5'UTR NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 137 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 GGGTTCTGAGCATTGCTATTG 0.368 6 45 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117258018 117258018 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:117258018G>T uc001prc.2 + 15 1971 c.1824G>T c.(1822-1824)AGG>AGT p.R608S CEP164_uc001prb.2_Missense_Mutation_p.R611S|CEP164_uc010rxk.1_Missense_Mutation_p.R582S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R41S NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 608 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGACCAGAGGCACCTGCTGG 0.587 32 146 --- --- --- --- PASS C11orf63 79864 broad.mit.edu 37 11 122756635 122756635 + Silent SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr11:122756635A>T uc001pym.2 + 2 375 c.78A>T c.(76-78)ACA>ACT p.T26T C11orf63_uc001pyl.1_Silent_p.T26T NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 26 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TCCAGTCCACACACCCACCTT 0.383 10 157 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2933085 2933085 + Missense_Mutation SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:2933085A>T uc001qlb.1 + 11 1280 c.1216A>T c.(1216-1218)AGC>TGC p.S406C ITFG2_uc010seb.1_Missense_Mutation_p.S229C|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 406 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGAGTACCACAGCCTGCTGCA 0.597 18 98 --- --- --- --- PASS NECAP1 25977 broad.mit.edu 37 12 8245544 8245544 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:8245544C>T uc001qtx.2 + 6 647 c.569C>T c.(568-570)CCG>CTG p.P190L NECAP1_uc001qty.2_Missense_Mutation_p.P48L NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 190 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) CTCCCACCCCCGCCAGGAGGC 0.512 16 176 --- --- --- --- PASS CLEC1A 51267 broad.mit.edu 37 12 10241723 10241723 + Missense_Mutation SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:10241723A>G uc001qxb.2 - 2 298 c.214T>C c.(214-216)TTT>CTT p.F72L CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 72 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 GCAGACTTACACAAAAGCCCC 0.512 11 47 --- --- --- --- PASS WBP11 51729 broad.mit.edu 37 12 14947514 14947514 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:14947514G>A uc001rci.2 - 7 839 c.678C>T c.(676-678)CCC>CCT p.P226P NM_016312 NP_057396 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 226 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding ovary(1)|lung(1) 2 GCCTACGAGGGGGAAGATCTA 0.488 67 403 --- --- --- --- PASS RASSF8 11228 broad.mit.edu 37 12 26218104 26218104 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:26218104G>A uc001rgx.2 + 3 998 c.777G>A c.(775-777)AAG>AAA p.K259K RASSF8_uc001rgy.2_Silent_p.K259K|RASSF8_uc001rgz.2_Silent_p.K259K|RASSF8_uc009zjd.1_Silent_p.K259K|RASSF8_uc009zje.1_Silent_p.K259K NM_007211 NP_009142 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family 259 Glu-rich. signal transduction 0 Colorectal(261;0.0847) ACAAATTAAAGGACTATTTGG 0.373 10 199 --- --- --- --- PASS ARNTL2 56938 broad.mit.edu 37 12 27553684 27553684 + Silent SNP A G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:27553684A>G uc001rht.1 + 10 1155 c.1137A>G c.(1135-1137)GGA>GGG p.G379G ARNTL2_uc001rhw.2_Silent_p.G342G|ARNTL2_uc010sjp.1_Silent_p.G342G|ARNTL2_uc001rhu.1_Silent_p.G365G|ARNTL2_uc009zji.1_Silent_p.G345G|ARNTL2_uc001rhv.1_Silent_p.G331G|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 379 PAS 2. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) CAGTGAATGGAAAATTTGTCT 0.348 25 147 --- --- --- --- PASS FAM113B 91523 broad.mit.edu 37 12 47629351 47629351 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:47629351G>T uc001rpn.2 + 4 1236 c.505G>T c.(505-507)GGC>TGC p.G169C FAM113B_uc010slj.1_Missense_Mutation_p.G49C|FAM113B_uc001rpq.2_Missense_Mutation_p.G169C NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 169 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) CATGCCTGTGGGCGAGGAAGT 0.612 7 86 --- --- --- --- PASS SMUG1 23583 broad.mit.edu 37 12 54576119 54576119 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:54576119C>G uc001sff.1 - 4 703 c.574G>C c.(574-576)GGG>CGG p.G192R SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.G192R|SMUG1_uc009znf.1_Missense_Mutation_p.G192R|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 192 depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 TCACAGATCCCAAGAAGCTGT 0.632 BER_DNA_glycosylases 10 130 --- --- --- --- PASS MMP19 4327 broad.mit.edu 37 12 56234994 56234994 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:56234994G>T uc001sib.2 - 3 321 c.200C>A c.(199-201)CCA>CAA p.P67Q MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Intron|MMP19_uc010spw.1_Missense_Mutation_p.P67Q NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 67 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 ACCTGAGACTGGAAGTTCAGA 0.512 8 82 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57957931 57957931 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:57957931G>T uc001sor.1 + 4 540 c.332G>T c.(331-333)CGA>CTA p.R111L KIF5A_uc010srr.1_Intron NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 111 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 ATCATTCCTCGAATTGCCCGA 0.527 9 123 --- --- --- --- PASS FRS2 10818 broad.mit.edu 37 12 69968278 69968278 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:69968278C>G uc001suy.2 + 10 1580 c.1070C>G c.(1069-1071)CCT>CGT p.P357R FRS2_uc001suz.2_Missense_Mutation_p.P357R|FRS2_uc009zrj.2_Missense_Mutation_p.P357R|FRS2_uc009zrk.2_Missense_Mutation_p.P357R NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 357 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TCTTTGCCTCCTGTTTGGGAA 0.418 19 154 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70963667 70963667 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:70963667C>T uc001swb.3 - 12 2798 c.2768G>A c.(2767-2769)AGC>AAC p.S923N PTPRB_uc010sto.1_Missense_Mutation_p.S923N|PTPRB_uc010stp.1_Missense_Mutation_p.S833N|PTPRB_uc001swc.3_Missense_Mutation_p.S1141N|PTPRB_uc001swa.3_Missense_Mutation_p.S1053N|PTPRB_uc001swd.3_Missense_Mutation_p.S1140N|PTPRB_uc009zrr.1_Missense_Mutation_p.S1020N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 923 Fibronectin type-III 11.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CACCGTCAGGCTATCTGTTGC 0.428 11 49 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88508920 88508920 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:88508920C>A uc001tar.2 - 19 2208 c.1864G>T c.(1864-1866)GAT>TAT p.D622Y CEP290_uc001tat.2_Missense_Mutation_p.D415Y|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 622 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CTTTCTAAATCTCTTTCTTTT 0.249 5 33 --- --- --- --- PASS RPH3A 22895 broad.mit.edu 37 12 113312915 113312915 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:113312915G>T uc010syl.1 + 11 1185 c.823G>T c.(823-825)GCC>TCC p.A275S RPH3A_uc001ttz.2_Missense_Mutation_p.A275S|RPH3A_uc001tty.2_Missense_Mutation_p.A271S|RPH3A_uc009zwe.1_Missense_Mutation_p.A271S|RPH3A_uc010sym.1_Missense_Mutation_p.A226S|RPH3A_uc001tua.2_Missense_Mutation_p.A35S NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 275 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) CTCAGTCCAGGCCTCCAGACC 0.602 3 8 --- --- --- --- PASS OGFOD2 79676 broad.mit.edu 37 12 123463863 123463863 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:123463863C>T uc001uea.1 + 7 1044 c.1023C>T c.(1021-1023)CCC>CCT p.P341P OGFOD2_uc001uds.1_Silent_p.P177P|OGFOD2_uc001udt.1_Silent_p.P177P|OGFOD2_uc001udu.1_Silent_p.P177P|OGFOD2_uc001udv.1_Silent_p.P177P|OGFOD2_uc009zxs.1_Silent_p.P177P|OGFOD2_uc001udw.1_Silent_p.P177P|OGFOD2_uc001udx.1_Silent_p.P177P|OGFOD2_uc001udy.1_Silent_p.P177P|OGFOD2_uc001udz.1_Silent_p.P281P|OGFOD2_uc001ueb.1_Silent_p.P177P|ARL6IP4_uc001uec.2_5'Flank|ARL6IP4_uc001ued.2_5'Flank|ARL6IP4_uc001uee.2_5'Flank|ARL6IP4_uc001uef.2_5'Flank|ARL6IP4_uc001ueg.2_5'Flank|ARL6IP4_uc009zxt.2_5'Flank|ARL6IP4_uc001ueh.2_5'Flank|ARL6IP4_uc001uei.2_5'Flank NM_024623 NP_078899 Q6N063 OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase 341 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen pancreas(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) GAGAGGAGCCCGCCACGGTGG 0.647 4 57 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124840069 124840069 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr12:124840069G>A uc010tba.1 - 24 3431 c.3314C>T c.(3313-3315)CCG>CTG p.P1105L NCOR2_uc010tay.1_Missense_Mutation_p.P1104L|NCOR2_uc010taz.1_Missense_Mutation_p.P1088L|NCOR2_uc010tbb.1_Missense_Mutation_p.P1097L|NCOR2_uc010tbc.1_Missense_Mutation_p.P1087L|NCOR2_uc001ugj.1_Missense_Mutation_p.P1105L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1105 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGTGGGCGCGGCAGGACGGG 0.657 6 35 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38357198 38357198 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr13:38357198G>T uc001uws.2 - 2 508 c.273C>A c.(271-273)AGC>AGA p.S91R TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.S91R|TRPC4_uc010tey.1_Missense_Mutation_p.S91R|TRPC4_uc010abw.2_Missense_Mutation_p.S91R|TRPC4_uc010abx.2_Missense_Mutation_p.S91R|TRPC4_uc010aby.2_Missense_Mutation_p.S91R NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 91 ANK 2.|Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGACATTAAAGCTTAAGAGTA 0.219 31 126 --- --- --- --- PASS GPC6 10082 broad.mit.edu 37 13 94197638 94197638 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr13:94197638C>T uc001vlt.2 + 2 915 c.283C>T c.(283-285)CGC>TGC p.R95C GPC6_uc010tig.1_Missense_Mutation_p.R95C|GPC6_uc001vlu.1_Missense_Mutation_p.R25C NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 95 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CCATTTTGTGCGCACCACTTT 0.398 43 178 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113460563 113460563 + Missense_Mutation SNP G A A rs150693839 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr13:113460563G>A uc001vsi.3 + 4 377 c.289G>A c.(289-291)GGA>AGA p.G97R ATP11A_uc001vsj.3_Missense_Mutation_p.G97R|ATP11A_uc001vsm.1_5'UTR NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 97 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AGTGACAAGCGGACTTCCACT 0.398 64 161 --- --- --- --- PASS DHRS4L2 317749 broad.mit.edu 37 14 24470661 24470661 + Silent SNP G C C rs144732095 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:24470661G>C uc001wli.3 + 6 730 c.600G>C c.(598-600)CTG>CTC p.L200L DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Silent_p.L123L|DHRS4L2_uc010alb.2_Silent_p.L74L NM_198083 NP_932349 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 138 binding|oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) CCATAGAGCTGGCCCCAAGGA 0.502 18 287 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24877097 24877097 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:24877097G>T uc001wpf.3 + 3 539 c.221G>T c.(220-222)AGC>ATC p.S74I NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 74 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GGCCTGTGCAGCCCAGAGCTG 0.617 30 129 --- --- --- --- PASS SSTR1 6751 broad.mit.edu 37 14 38679133 38679133 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:38679133G>T uc001wul.1 + 3 1156 c.539G>T c.(538-540)GGC>GTC p.G180V SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 180 Helical; Name=4; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GTAAACCTGGGCGTGTGGGTG 0.647 28 74 --- --- --- --- PASS GPHN 10243 broad.mit.edu 37 14 67555743 67555743 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:67555743C>T uc001xiy.2 + 11 2210 c.1089C>T c.(1087-1089)GAC>GAT p.D363D GPHN_uc001xix.2_Silent_p.D396D|GPHN_uc010tss.1_Silent_p.D409D|GPHN_uc010tst.1_Silent_p.D332D|GPHN_uc010tsu.1_Silent_p.D286D NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 363 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ATGCAAAAGACAATTTACCCC 0.388 T MLL AL 20 64 --- --- --- --- PASS RPS6KA5 9252 broad.mit.edu 37 14 91369242 91369242 + Missense_Mutation SNP T G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:91369242T>G uc001xys.2 - 9 1244 c.1029A>C c.(1027-1029)TTA>TTC p.L343F RPS6KA5_uc010twi.1_Missense_Mutation_p.L264F|RPS6KA5_uc001xyt.2_Missense_Mutation_p.L343F|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 343 AGC-kinase C-terminal. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TACTCACATCTAATTCATCTC 0.418 33 120 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92480787 92480787 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:92480787T>C uc001xzy.2 - 7 1746 c.958A>G c.(958-960)AAA>GAA p.K320E TRIP11_uc010auf.1_Missense_Mutation_p.K85E NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 320 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) Gataattttttatttatatct 0.279 T PDGFRB AML 5 90 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106993807 106993807 + RNA SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr14:106993807C>A uc010tyt.1 - 187 c.8640G>T Parts of antibodies, mostly variable regions. 0 CCTCCCCTCACTGTGTCTCTC 0.572 59 153 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22383115 22383115 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr15:22383115C>T uc001yuc.1 + 7 1624 c.643C>T c.(643-645)CTG>TTG p.L215L LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.L215L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGGGGCTTCTGGCTTCCTA 0.517 14 119 --- --- --- --- PASS SPTBN5 51332 broad.mit.edu 37 15 42158429 42158429 + Splice_Site SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr15:42158429T>A uc001zos.2 - 38 6859 c.6526_splice c.e38-1 p.K2176_splice NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CTCTCCCTTCTGGAGGGAGAG 0.647 6 18 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54799355 54799355 + Nonsense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr15:54799355C>G uc002ack.2 + 21 5342 c.5342C>G c.(5341-5343)TCA>TGA p.S1781* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1781 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAATTGTATCAAGTGATTTC 0.323 3 26 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83935686 83935686 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr15:83935686C>A uc002bjt.1 - 3 425 c.337G>T c.(337-339)GAC>TAC p.D113Y BNC1_uc010uos.1_Missense_Mutation_p.D101Y NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 113 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAGAGCCGGTCCAGTAGGATT 0.502 18 129 --- --- --- --- PASS LONP2 83752 broad.mit.edu 37 16 48295410 48295410 + Missense_Mutation SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr16:48295410A>T uc002efi.1 + 5 888 c.799A>T c.(799-801)AAT>TAT p.N267Y LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.N223Y NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 267 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 AGATGAAGATAATGATGACAT 0.338 37 217 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65016007 65016007 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr16:65016007G>A uc002eoi.2 - 8 1631 c.1197C>T c.(1195-1197)GGC>GGT p.G399G CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.G399G|CDH11_uc010vin.1_Silent_p.G273G|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 399 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CAACCACGGTGCCAGCAGCTG 0.493 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 28 192 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77355045 77355045 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr16:77355045C>A uc002ffc.3 - 15 2637 c.2218G>T c.(2218-2220)GTT>TTT p.V740F ADAMTS18_uc010chc.1_Missense_Mutation_p.V328F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.V436F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 740 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CCTTTGCAAACGCCACAAGCA 0.383 23 182 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77375655 77375655 + Missense_Mutation SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr16:77375655C>G uc002ffc.3 - 11 2075 c.1656G>C c.(1654-1656)AGG>AGC p.R552S ADAMTS18_uc010chc.1_Missense_Mutation_p.R140S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R248S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 552 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGGTCTCACACCTGTGGCCTA 0.398 8 73 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11648345 11648345 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:11648345G>T uc002gne.2 + 31 6411 c.6343G>T c.(6343-6345)GTT>TTT p.V2115F DNAH9_uc010coo.2_Missense_Mutation_p.V1409F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2115 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGAAGCTTTGGTTAGGAAGGC 0.517 15 81 --- --- --- --- PASS TRIM16L 147166 broad.mit.edu 37 17 18634465 18634465 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:18634465G>A uc002gug.1 + 8 971 c.284G>A c.(283-285)CGC>CAC p.R95H TRIM16L_uc010vyf.1_Missense_Mutation_p.R149H|TRIM16L_uc002guh.1_Missense_Mutation_p.R95H|TRIM16L_uc010cqg.1_Missense_Mutation_p.R197H|TRIM16L_uc002gui.1_Missense_Mutation_p.R95H|TRIM16L_uc010vyg.1_Missense_Mutation_p.R95H|TRIM16L_uc010vyh.1_Intron NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 95 cytoplasm 0 TCGGGCATCCGCAAAGTTATC 0.443 4 125 --- --- --- --- PASS HOXB7 3217 broad.mit.edu 37 17 46685369 46685369 + Silent SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:46685369C>A uc002inv.2 - 2 592 c.489G>T c.(487-489)ACG>ACT p.T163T NM_004502 NP_004493 P09629 HXB7_HUMAN homeobox B7 163 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCGCCGCCGCGTCAGGTAGC 0.557 15 149 --- --- --- --- PASS HOXB7 3217 broad.mit.edu 37 17 46685422 46685422 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:46685422G>A uc002inv.2 - 2 539 c.436C>T c.(436-438)CGC>TGC p.R146C NM_004502 NP_004493 P09629 HXB7_HUMAN homeobox B7 146 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTCTGGTAGCGGGTGTAGGTC 0.507 9 109 --- --- --- --- PASS GH1 2688 broad.mit.edu 37 17 61995185 61995185 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:61995185C>T uc002jdj.2 - 4 453 c.391G>A c.(391-393)GCC>ACC p.A131T GH1_uc002jdi.2_Missense_Mutation_p.A116T|GH1_uc002jdk.2_Missense_Mutation_p.A91T|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 131 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 CTGTCAGAGGCGCCGTACACC 0.612 21 106 --- --- --- --- PASS SLC39A11 201266 broad.mit.edu 37 17 71027694 71027694 + Splice_Site SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:71027694C>A uc002jjb.2 - 4 421 c.306_splice c.e4+1 p.L102_splice SLC39A11_uc002jja.2_Splice_Site_p.L102_splice|SLC39A11_uc002jjc.1_Splice_Site_p.L102_splice NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 GTGGTACTCACCAAGTGAGGC 0.493 6 74 --- --- --- --- PASS ASPSCR1 79058 broad.mit.edu 37 17 79974718 79974718 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:79974718C>T uc002kcx.2 + 14 1545 c.1448C>T c.(1447-1449)CCA>CTA p.P483L ASPSCR1_uc002kcw.1_Missense_Mutation_p.P483L|ASPSCR1_uc002kcy.2_Missense_Mutation_p.P577L|ASPSCR1_uc002kcz.2_Missense_Mutation_p.P377L|ASPSCR1_uc002kda.2_Missense_Mutation_p.P431L NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 483 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCCATCTCCCCATCTGCGGCC 0.662 T TFE3 alveolar soft part sarcoma 4 38 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55355660 55355660 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr18:55355660C>A uc002lgw.2 - 12 1300 c.1300G>T c.(1300-1302)GCA>TCA p.A434S uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 434 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) CTAGCTTTTGCGGGTGTGTCC 0.443 Byler_disease 40 187 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6897289 6897289 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:6897289G>T uc002mfw.2 + 4 406 c.368G>T c.(367-369)GGA>GTA p.G123V EMR1_uc010dvc.2_Missense_Mutation_p.G123V|EMR1_uc010dvb.2_Intron|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Missense_Mutation_p.G123V NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 123 Extracellular (Potential).|EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TGGGTCCCAGGAAAGCCGGGC 0.498 25 81 --- --- --- --- PASS LRRC8E 80131 broad.mit.edu 37 19 7965541 7965541 + Nonsense_Mutation SNP G T T rs149479952 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:7965541G>T uc002mir.2 + 3 2235 c.2134G>T c.(2134-2136)GAG>TAG p.E712* NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 712 LRR 9. integral to membrane lung(1)|pancreas(1) 2 CAATGCCCTGGAGGCCCTGCC 0.647 4 121 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8550883 8550883 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:8550883G>A uc010dwe.2 + 14 1651 c.1571G>A c.(1570-1572)CGC>CAC p.R524H HNRNPM_uc010xke.1_Missense_Mutation_p.R470H|HNRNPM_uc010dwd.2_Missense_Mutation_p.R485H|HNRNPM_uc002mka.2_Missense_Mutation_p.R389H|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 524 17.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 GCCATCGAGCGCATGGGCCTG 0.697 4 95 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063188 9063188 + Silent SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:9063188T>A uc002mkp.2 - 3 24462 c.24258A>T c.(24256-24258)CCA>CCT p.P8086P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8088 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 TAATAACCATTGGAGATGTGA 0.473 20 93 --- --- --- --- PASS DDA1 79016 broad.mit.edu 37 19 17426741 17426741 + Splice_Site SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:17426741A>T uc002ngd.2 + 4 264 c.137_splice c.e4-2 p.I46_splice DDA1_uc002nge.2_Splice_Site NM_024050 NP_076955 Q9BW61 DDA1_HUMAN DET1 and DDB1 associated 1 ovary(1) 1 TTTCCTCCTTAGTCATCGTGA 0.527 109 474 --- --- --- --- PASS KIAA1683 80726 broad.mit.edu 37 19 18377695 18377695 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:18377695T>C uc002nin.2 - 3 871 c.655A>G c.(655-657)ACC>GCC p.T219A KIAA1683_uc010ebn.2_Missense_Mutation_p.T219A|KIAA1683_uc010xqe.1_Missense_Mutation_p.T173A NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 219 mitochondrion ovary(2) 2 GGCTCTGGGGTACCCTGAGCT 0.627 22 48 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155926 22155926 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:22155926T>C uc002nqp.2 - 5 1759 c.1610A>G c.(1609-1611)TAC>TGC p.Y537C ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTACATTTGTAGGGCTTCTC 0.398 24 115 --- --- --- --- PASS GRAMD1A 57655 broad.mit.edu 37 19 35505200 35505200 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:35505200C>T uc010xse.1 + 10 1115 c.978C>T c.(976-978)GAC>GAT p.D326D GRAMD1A_uc002nxi.1_Silent_p.D413D|GRAMD1A_uc002nxk.2_Silent_p.D319D|GRAMD1A_uc002nxl.2_Silent_p.D92D|GRAMD1A_uc010xsf.1_Silent_p.D331D|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 326 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCCAGCCTGACGGGCCCACCA 0.632 8 192 --- --- --- --- PASS AKT2 208 broad.mit.edu 37 19 40761067 40761067 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:40761067C>T uc002onf.2 - 4 547 c.285G>A c.(283-285)GAG>GAA p.E95E AKT2_uc010egs.2_Silent_p.E95E|AKT2_uc010egt.2_Silent_p.E33E|AKT2_uc010xvj.1_Silent_p.E33E|AKT2_uc010egu.1_Silent_p.E33E|AKT2_uc010xvk.1_Silent_p.E95E NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 95 PH. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) AGACTGACCTCTCGTCTGGAG 0.567 A ovarian|pancreatic 9 141 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46357737 46357737 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:46357737C>T uc002pdn.2 - 2 262 c.17G>A c.(16-18)GGA>GAA p.G6E SYMPK_uc002pdo.1_Missense_Mutation_p.G6E|SYMPK_uc002pdp.1_Missense_Mutation_p.G6E|SYMPK_uc002pdq.1_Missense_Mutation_p.G6E NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 6 Interaction with HSF1. 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) GACGCTGTCTCCACTGCCGCT 0.617 6 66 --- --- --- --- PASS CEACAM18 729767 broad.mit.edu 37 19 51981926 51981926 + Silent SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:51981926G>T uc002pwv.1 + 2 213 c.213G>T c.(211-213)CTG>CTT p.L71L NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 71 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GATGGAGCCTGTGGAGGAGGG 0.627 5 55 --- --- --- --- PASS LILRB3 11025 broad.mit.edu 37 19 54724576 54724576 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:54724576C>T uc002qef.1 - 6 1191 c.1080G>A c.(1078-1080)GGG>GGA p.G360G LILRB3_uc002qee.1_Silent_p.G360G|LILRB3_uc002qeh.1_Silent_p.G360G|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.G360G|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Silent_p.G360G|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.G360G|LILRB3_uc002qep.1_Silent_p.G360G|LILRB3_uc002qeq.1_Silent_p.G360G|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.G360G|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 360 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GATGGGCTGCCCCTTCTTTGG 0.582 13 52 --- --- --- --- PASS KIR2DL3 3804 broad.mit.edu 37 19 55263135 55263135 + Silent SNP C G G TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:55263135C>G uc002qgv.2 + 6 768 c.750C>G c.(748-750)ACC>ACG p.T250T KIR2DL3_uc002qgx.2_Silent_p.T250T|KIR2DL3_uc002qgy.2_Silent_p.T152T|KIR2DL3_uc010erw.1_Silent_p.T250T|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 250 Helical; (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) TGATTGGGACCTCAGTGGtca 0.378 6 204 --- --- --- --- PASS ZNF211 10520 broad.mit.edu 37 19 58152510 58152510 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr19:58152510C>T uc002qpq.2 + 3 836 c.656C>T c.(655-657)GCG>GTG p.A219V ZNF211_uc010yhb.1_Missense_Mutation_p.A223V|ZNF211_uc002qpp.2_Missense_Mutation_p.A232V|ZNF211_uc002qpr.2_Missense_Mutation_p.A283V|ZNF211_uc002qps.2_Missense_Mutation_p.A284V|ZNF211_uc002qpt.2_Missense_Mutation_p.A231V|ZNF211_uc010yhc.1_Missense_Mutation_p.A231V|ZNF211_uc010yhd.1_Missense_Mutation_p.A158V|ZNF211_uc010yhe.1_Missense_Mutation_p.A210V NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 219 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AACAAGTGTGCGGTGGCCTTT 0.473 22 101 --- --- --- --- PASS PROKR2 128674 broad.mit.edu 37 20 5294767 5294767 + Missense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr20:5294767C>A uc010zqw.1 - 1 249 c.249G>T c.(247-249)AAG>AAT p.K83N PROKR2_uc010zqx.1_Missense_Mutation_p.K83N|PROKR2_uc010zqy.1_Missense_Mutation_p.K83N|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 83 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGTTGCGCAACTTCTTATAGC 0.547 HNSCC(71;0.22) 25 89 --- --- --- --- PASS TM9SF4 9777 broad.mit.edu 37 20 30747829 30747829 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr20:30747829G>T uc002wxj.2 + 16 1839 c.1604G>T c.(1603-1605)GGC>GTC p.G535V TM9SF4_uc010zts.1_Missense_Mutation_p.G442V|TM9SF4_uc002wxk.2_Missense_Mutation_p.G518V|TM9SF4_uc010gdz.2_Missense_Mutation_p.G414V NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 535 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TACCTCTTTGGCTTCCTGTTC 0.532 23 78 --- --- --- --- PASS TP53TG5 27296 broad.mit.edu 37 20 44004180 44004180 + Silent SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr20:44004180G>A uc002xny.2 - 4 348 c.267C>T c.(265-267)GCC>GCT p.A89A SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 89 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 TTTTATTGCAGGCACTGTTTT 0.522 22 206 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50769440 50769440 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr20:50769440C>T uc002xwl.2 - 6 1640 c.1291G>A c.(1291-1293)GAT>AAT p.D431N ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.D429N|ZFP64_uc002xwn.2_Missense_Mutation_p.D377N NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 431 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 AAGGAGGCATCGCATATATCG 0.562 7 61 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19770581 19770581 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr21:19770581T>A uc002ykw.2 - 2 242 c.211A>T c.(211-213)AAT>TAT p.N71Y NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 71 Extracellular (Potential).|SEA. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 AAATTAGGATTATATGTAACT 0.358 25 94 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18028975 18028975 + Nonsense_Mutation SNP C A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:18028975C>A uc010gqw.1 + 16 4058 c.3932C>A c.(3931-3933)TCA>TAA p.S1311* CECR2_uc010gqv.1_Nonsense_Mutation_p.S1169*|CECR2_uc002zml.2_Nonsense_Mutation_p.S1170*|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1353 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GGATTTGGTTCATCTGCATTT 0.572 57 122 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18028976 18028976 + Silent SNP A T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:18028976A>T uc010gqw.1 + 16 4059 c.3933A>T c.(3931-3933)TCA>TCT p.S1311S CECR2_uc010gqv.1_Silent_p.S1169S|CECR2_uc002zml.2_Silent_p.S1170S|CECR2_uc002zmo.2_RNA NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1353 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GATTTGGTTCATCTGCATTTC 0.572 57 121 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22385737 22385737 + RNA SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:22385737C>T uc011aim.1 + 2 c.217C>T uc002zvu.2_Intron Parts of antibodies, mostly variable regions. 0 TGATGGCAGCCACAGCAAGGG 0.602 21 68 --- --- --- --- PASS SH3BP1 23616 broad.mit.edu 37 22 38043285 38043285 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:38043285T>C uc003ati.2 + 12 1159 c.1048T>C c.(1048-1050)TCC>CCC p.S350P SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.S350P|SH3BP1_uc003ath.1_Missense_Mutation_p.S350P|SH3BP1_uc003atj.1_Missense_Mutation_p.S286P|SH3BP1_uc003atk.1_Missense_Mutation_p.S264P|uc003atl.1_Intron NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 350 Rho-GAP. signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) TGCCCTCAAGTCCTATCTGCG 0.622 17 235 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40814895 40814895 + Missense_Mutation SNP G A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:40814895G>A uc003ayv.1 - 9 1754 c.1547C>T c.(1546-1548)GCG>GTG p.A516V MKL1_uc003ayw.1_Missense_Mutation_p.A516V|MKL1_uc010gye.1_Missense_Mutation_p.A516V|MKL1_uc010gyf.1_Missense_Mutation_p.A466V NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 516 Potential. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTCTAGCTCCGCCCGCCCCCC 0.682 T RBM15 acute megakaryocytic leukemia 26 39 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40816853 40816853 + Silent SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr22:40816853T>C uc003ayv.1 - 7 1086 c.879A>G c.(877-879)CCA>CCG p.P293P MKL1_uc003ayw.1_Silent_p.P293P|MKL1_uc010gye.1_Silent_p.P293P|MKL1_uc010gyf.1_Silent_p.P243P NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 293 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GTGCCTACTTTGGCGGGGCAG 0.637 T RBM15 acute megakaryocytic leukemia 14 32 --- --- --- --- PASS SHOX 6473 broad.mit.edu 37 X 591828 591828 + Missense_Mutation SNP T A A TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:591828T>A uc004cph.1 + 2 887 c.196T>A c.(196-198)TGC>AGC p.C66S SHOX_uc004cpi.2_Missense_Mutation_p.C66S NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 66 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCGGCCACTGCCCGGTGCA 0.592 7 97 --- --- --- --- PASS SHOX 6473 broad.mit.edu 37 X 601573 601573 + Silent SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:601573G>T uc004cph.1 + 4 1195 c.504G>T c.(502-504)CGG>CGT p.R168R SHOX_uc004cpi.2_Silent_p.R168R NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 168 Homeobox. R -> W (in LMD). skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCAGAACCGGAGAGCCAAGT 0.592 18 151 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5821841 5821841 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:5821841G>T uc010ndh.2 - 5 1379 c.878C>A c.(877-879)CCG>CAG p.P293Q NLGN4X_uc004crp.2_Missense_Mutation_p.P313Q|NLGN4X_uc004crq.2_Missense_Mutation_p.P293Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.P330Q|NLGN4X_uc004crr.2_Missense_Mutation_p.P293Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.P293Q NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 293 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GTACTTGGCCGGCTGGTAGTT 0.542 26 56 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31893457 31893457 + Missense_Mutation SNP T C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:31893457T>C uc004dda.1 - 48 7190 c.6946A>G c.(6946-6948)ATT>GTT p.I2316V DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.I972V|DMD_uc004dcx.2_Missense_Mutation_p.I975V|DMD_uc004dcz.2_Missense_Mutation_p.I2193V|DMD_uc004dcy.1_Missense_Mutation_p.I2312V|DMD_uc004ddb.1_Missense_Mutation_p.I2308V|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2316 Spectrin 16. Missing (in DMD). 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) TGAGCTTCAATTTCTCCTTGT 0.343 12 20 --- --- --- --- PASS USP26 83844 broad.mit.edu 37 X 132161178 132161178 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:132161178C>T uc010nrm.1 - 6 1541 c.1071G>A c.(1069-1071)AAG>AAA p.K357K USP26_uc011mvf.1_Silent_p.K357K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 357 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GTAACATCTCCTTGATTTCTA 0.383 32 74 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135441478 135441478 + Silent SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:135441478C>T uc004ezu.1 + 11 7299 c.7008C>T c.(7006-7008)GCC>GCT p.A2336A GPR112_uc010nsb.1_Silent_p.A2131A|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2336 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCATAAAAGCCAGCTCTTCCT 0.373 38 161 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152826170 152826170 + Missense_Mutation SNP C T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:152826170C>T uc004fht.1 + 17 3002 c.2876C>T c.(2875-2877)GCG>GTG p.A959V ATP2B3_uc004fhs.1_Missense_Mutation_p.A959V|ATP2B3_uc010nuf.1_5'UTR|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 959 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGAGGAATGCGCCCCTGCAC 0.562 13 38 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152826171 152826171 + Silent SNP G C C TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:152826171G>C uc004fht.1 + 17 3003 c.2877G>C c.(2875-2877)GCG>GCC p.A959A ATP2B3_uc004fhs.1_Silent_p.A959A|ATP2B3_uc010nuf.1_5'UTR|ATP2B3_uc004fhu.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 959 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAATGCGCCCCTGCACT 0.562 13 37 --- --- --- --- PASS VAMP7 6845 broad.mit.edu 37 X 155149501 155149501 + Missense_Mutation SNP G T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chrX:155149501G>T uc004fnr.2 + 6 632 c.458G>T c.(457-459)AGA>ATA p.R153I VAMP7_uc004fnt.2_Missense_Mutation_p.R112I|VAMP7_uc011naa.1_Missense_Mutation_p.R114I|VAMP7_uc011nab.1_Missense_Mutation_p.R52I|VAMP7_uc004fns.2_Intron|VAMP7_uc011nac.1_Missense_Mutation_p.R86I NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 153 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGAGGAGAAAGATTGGAATTA 0.303 21 161 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 141015240 141015241 + Frame_Shift_Ins INS - T T TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr9:141015240_141015241insT uc004cog.2 + 45 6541_6542 c.6396_6397insT c.(6394-6399)CGCTTTfs p.R2132fs CACNA1B_uc004coi.2_Frame_Shift_Ins_p.R1344fs NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2132_2133 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCTGCGACCGCTTTGGGGGCCG 0.708 4 2 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - G G rs113730440 TCGA-39-5039-01A-01D-1441-08 TCGA-39-5039-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 0c14e914-abd4-4406-be82-a810b10a1320 102b74a1-6b90-4599-abf6-43a8259b5027 g.chr17:26684394_26684395insG uc002haz.2 - 2 210 c.78_splice c.e2+1 p.W26_splice POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 4 3 --- --- --- ---