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 PLCH2 9651 broad.mit.edu 37 1 2411398 2411398 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr1:2411398G>A uc001aji.1 + 3 771 c.497G>A c.(496-498)CGC>CAC p.R166H PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 166 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CTGGCTCGCCGCCAGCGCACC 0.687 PTPN22 26191 broad.mit.edu 37 1 114399229 114399229 + Missense_Mutation SNP G A A rs115552198 byFrequency TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr1:114399229G>A uc001eds.2 - 6 551 c.421C>T c.(421-423)CGC>TGC p.R141C uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.R141C|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 141 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) GCCCAGTAGCGCTCACACTTT 0.438 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG - - rs140875805 byFrequency TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr1:152324558_152324559delTG uc001ezw.3 - 3 5776_5777 c.5703_5704delCA c.(5701-5706)CACAGCfs p.H1901fs uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1901_1902 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT - - TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr1:214557049_214557051delCCT uc001hkk.1 - 13 2418_2420 c.2147_2149delAGG c.(2146-2151)GAGGCT>GCT p.E716del PTPN14_uc010pty.1_In_Frame_Del_p.E617del NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 SUV39H2 79723 broad.mit.edu 37 10 14938880 14938880 + Missense_Mutation SNP G T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr10:14938880G>T uc001inh.2 + 2 89 c.33G>T c.(31-33)TGG>TGT p.W11C SUV39H2_uc001ing.2_Missense_Mutation_p.W71C|SUV39H2_uc001ini.2_Missense_Mutation_p.W11C|SUV39H2_uc001inj.2_Missense_Mutation_p.W11C NM_024670 NP_078946 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 71 Chromo. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|ovary(1) 3 GGAAAGGATGGCCAGATTCTA 0.323 MKI67 4288 broad.mit.edu 37 10 129901939 129901947 + In_Frame_Del DEL CTCTTTGTG - - rs1050767 byFrequency TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr10:129901939_129901947delCTCTTTGTG uc001lke.2 - 13 8352_8360 c.8157_8165delCACAAAGAG c.(8155-8166)AGCACAAAGAGG>AGG p.STK2719del MKI67_uc001lkf.2_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2719_2721 16 X 122 AA approximate repeats.|15. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGAGATGCCTCTTTGTGCTTGCTGTGG 0.483 SYTL2 54843 broad.mit.edu 37 11 85445443 85445443 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr11:85445443C>T uc010rth.1 - 6 1202 c.926G>A c.(925-927)AGA>AAA p.R309K SYTL2_uc010rtg.1_Missense_Mutation_p.R310K|SYTL2_uc010rti.1_Missense_Mutation_p.R309K|SYTL2_uc010rtj.1_Missense_Mutation_p.R261K|SYTL2_uc001pbf.3_Missense_Mutation_p.R309K|SYTL2_uc010rtf.1_Missense_Mutation_p.R167K NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 309 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCAGAAATTCTCTCATGGAT 0.438 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr11:115080343G>T uc001ppi.3 - 8 1158 c.1029C>A c.(1027-1029)ACC>ACA p.T343T CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 343 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.269 PDZD3 79849 broad.mit.edu 37 11 119058000 119058000 + Missense_Mutation SNP A T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr11:119058000A>T uc001pwb.2 + 3 1074 c.550A>T c.(550-552)AGC>TGC p.S184C PDZD3_uc001pvy.2_Missense_Mutation_p.S118C|PDZD3_uc001pvz.2_Missense_Mutation_p.S118C|PDZD3_uc010rzd.1_Missense_Mutation_p.S105C|PDZD3_uc001pwa.2_5'UTR Q86UT5 NHRF4_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4; 184 PDZ 1. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1) 1 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CATCCGGGCCAGCAGCCCTCG 0.632 PRIM1 5557 broad.mit.edu 37 12 57140741 57140741 + Missense_Mutation SNP T C C TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr12:57140741T>C uc001smd.2 - 3 401 c.337A>G c.(337-339)ACA>GCA p.T113A PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_Intron|PRIM1_uc001smf.2_Missense_Mutation_p.T113A NM_000946 NP_000937 P49642 PRI1_HUMAN DNA primase polypeptide 1 113 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding 0 TCATAGTCTGTCATGTCAATG 0.428 IL26 55801 broad.mit.edu 37 12 68619487 68619487 + Missense_Mutation SNP G C C TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr12:68619487G>C uc001stx.1 - 1 85 c.50C>G c.(49-51)TCT>TGT p.S17C NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 17 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) AATGGCAAGAGACAGAGTGAC 0.478 MIPEP 4285 broad.mit.edu 37 13 24448985 24448985 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr13:24448985C>T uc001uox.3 - 5 703 c.603G>A c.(601-603)AAG>AAA p.K201K NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 201 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AAAGATGTACCTTTTCTTTGT 0.333 ERCC5 2073 broad.mit.edu 37 13 103520596 103520596 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr13:103520596C>T uc001vpw.2 + 12 3110 c.2667C>T c.(2665-2667)CTC>CTT p.L889L ERCC5_uc001vpu.1_Silent_p.L1343L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Silent_p.L721L NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 889 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGGAACCTCTCCTAAAATTCT 0.373 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ARHGEF7 8874 broad.mit.edu 37 13 111896312 111896315 + Splice_Site DEL AAGT - - TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr13:111896312_111896315delAAGT uc001vrs.2 + 8 1167 c.917_splice c.e8+1 p.K306_splice ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Splice_Site_p.K128_splice|ARHGEF7_uc001vrv.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.3_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.3_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.1_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GACCAGTGAGAAGTAAGTTAGATG 0.324 DLK1 8788 broad.mit.edu 37 14 101200827 101200827 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr14:101200827C>T uc001yhs.3 + 5 899 c.746C>T c.(745-747)GCG>GTG p.A249V DLK1_uc001yhu.3_Intron NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 249 Extracellular (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) AAGAAGCGCGCGCTGAGCCCC 0.682 SIN3A 25942 broad.mit.edu 37 15 75693090 75693090 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr15:75693090C>T uc002bai.2 - 11 1977 c.1718G>A c.(1717-1719)CGG>CAG p.R573Q SIN3A_uc002baj.2_Missense_Mutation_p.R573Q|SIN3A_uc010uml.1_Missense_Mutation_p.R573Q NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 573 Interactions with SUDS3 and SAP130.|Interaction with NCOR1 (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 GAGAGGAGTCCGTCCTGTACA 0.493 Unknown 0 broad.mit.edu 37 16 66940 66940 + Silent SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr16:66940G>A uc002cfg.1 - 5 1355 c.696C>T c.(694-696)AGC>AGT p.S232S NM_182905 NP_878908 WAS protein family homolog 1 GCTCTCTCTTGCTGATGGACA 0.597 PKD1 5310 broad.mit.edu 37 16 2156265 2156265 + Silent SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr16:2156265G>A uc002cos.1 - 19 7739 c.7530C>T c.(7528-7530)TAC>TAT p.Y2510Y PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2510 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCAGCAGGGCGTACACCAGCG 0.687 CREBBP 1387 broad.mit.edu 37 16 3779062 3779062 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr16:3779062C>T uc002cvv.2 - 31 6190 c.5986G>A c.(5986-5988)GCC>ACC p.A1996T CREBBP_uc002cvw.2_Missense_Mutation_p.A1958T NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1996 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTCACGGGGGCCATCTGGCTC 0.697 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome ANKS3 124401 broad.mit.edu 37 16 4755095 4755095 + Splice_Site SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr16:4755095C>T uc002cxj.1 - 8 1163 c.868_splice c.e8+1 p.E290_splice ANKS3_uc002cxi.1_Splice_Site_p.E217_splice|ANKS3_uc002cxk.2_Splice_Site_p.E161_splice|ANKS3_uc002cxl.2_Splice_Site_p.E117_splice|ANKS3_uc010uxs.1_Splice_Site_p.E217_splice|ANKS3_uc002cxm.2_Splice_Site_p.E84_splice NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 0 GGGCCACTCACCATAGCGAGG 0.597 CNGB1 1258 broad.mit.edu 37 16 57918280 57918280 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr16:57918280C>T uc002emt.2 - 33 3609 c.3544G>A c.(3544-3546)GAC>AAC p.D1182N CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1182 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCGGGTGGGTCGGTGGCGGCC 0.721 KRT39 390792 broad.mit.edu 37 17 39116542 39116542 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr17:39116542G>A uc002hvo.1 - 6 1244 c.1208C>T c.(1207-1209)TCG>TTG p.S403L KRT39_uc010wfm.1_Missense_Mutation_p.S136L NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 403 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) CTTGCCATCCGAGCTCTCCAG 0.468 ONECUT2 9480 broad.mit.edu 37 18 55103358 55103358 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr18:55103358C>T uc002lgo.2 + 1 442 c.410C>T c.(409-411)TCG>TTG p.S137L NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 137 organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCCTGCGACTCGTCTCCGCCT 0.617 APC2 10297 broad.mit.edu 37 19 1466495 1466496 + Frame_Shift_Ins INS - T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:1466495_1466496insT uc002lsr.1 + 15 3403_3404 c.3195_3196insT c.(3193-3198)CTCTCGfs p.L1065fs APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 1065_1066 Interaction with CTNNB1.|1.|5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGGCCACTCTCGCTGTCCCG 0.683 CELF5 60680 broad.mit.edu 37 19 3293345 3293345 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:3293345C>T uc002lxm.2 + 12 1396 c.1359C>T c.(1357-1359)AGC>AGT p.S453S CELF5_uc002lxl.1_3'UTR|CELF5_uc010dtj.1_3'UTR|CELF5_uc010xhg.1_3'UTR|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 453 RRM 3. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 ACCCGGCCAGCGCCCAGGCAG 0.622 TNFSF14 8740 broad.mit.edu 37 19 6664993 6664993 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:6664993G>A uc002mfk.1 - 5 1049 c.667C>T c.(667-669)CGC>TGC p.R223C TNFSF14_uc002mfj.1_Missense_Mutation_p.R187C NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 223 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 CGAACCAGGCGTTCATCCAGC 0.612 TNFSF14 8740 broad.mit.edu 37 19 6665273 6665273 + Silent SNP G A A rs147375196 TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:6665273G>A uc002mfk.1 - 5 769 c.387C>T c.(385-387)CAC>CAT p.H129H TNFSF14_uc002mfj.1_Silent_p.H93H NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 129 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 GGGCCCCATCGTGGTAGCTGA 0.647 LRRC8E 80131 broad.mit.edu 37 19 7964176 7964176 + Nonsense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:7964176C>T uc002mir.2 + 3 870 c.769C>T c.(769-771)CGA>TGA p.R257* NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 257 integral to membrane lung(1)|pancreas(1) 2 CATGTACATCCGACAGACGGT 0.532 LDLR 3949 broad.mit.edu 37 19 11221368 11221368 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:11221368C>T uc002mqk.3 + 7 1149 c.981C>T c.(979-981)CAC>CAT p.H327H LDLR_uc010xlk.1_Silent_p.H327H|LDLR_uc010xll.1_Silent_p.H286H|LDLR_uc010xlm.1_Silent_p.H180H|LDLR_uc010xln.1_Silent_p.H200H|LDLR_uc010xlo.1_Silent_p.H159H NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 327 Extracellular (Potential).|EGF-like 1. H -> Y (in FH). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GCTGTTCCCACGTCTGCAATG 0.627 FFAR2 2867 broad.mit.edu 37 19 35941517 35941517 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:35941517C>T uc002nzg.2 + 2 981 c.901C>T c.(901-903)CGC>TGC p.R301C FFAR2_uc010eea.2_Missense_Mutation_p.R301C NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 301 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGTTGGGACGCAGAGGCAA 0.567 PSG8 440533 broad.mit.edu 37 19 43359720 43359720 + Missense_Mutation SNP C G G TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:43359720C>G uc002oul.3 - 1 151 c.52G>C c.(52-54)GTC>CTC p.V18L PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG8_uc002oum.3_Missense_Mutation_p.V18L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.V18L|PSG10_uc010eip.2_RNA|PSG1_uc002our.1_Intron|PSG1_uc010eio.1_Intron|PSG1_uc002oux.1_Intron|PSG1_uc002ouy.1_Intron NM_001130168 NP_001123640 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 18 extracellular region 0 Prostate(69;0.00899) GTGAGCAGGACCCCCTTCCAT 0.567 CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA - - TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:45911859_45911861delGAA uc002pbq.1 + 3 1121_1123 c.633_635delGAA c.(631-636)CGGAAG>CGG p.K217del PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_In_Frame_Del_p.K219del NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 217 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 KIR2DS4 3809 broad.mit.edu 37 19 55351111 55351111 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:55351111C>T uc002qhm.1 + 5 667 c.621C>T c.(619-621)TAC>TAT p.Y207Y KIR2DS4_uc010yfj.1_Missense_Mutation_p.T193M|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.T200M|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 207 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACGCTCCCTACGAGTGGTCAA 0.562 NLRP2 55655 broad.mit.edu 37 19 55495082 55495082 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:55495082C>T uc002qij.2 + 6 2102 c.2016C>T c.(2014-2016)GAC>GAT p.D672D NLRP2_uc010yfp.1_Silent_p.D649D|NLRP2_uc010esn.2_Silent_p.D648D|NLRP2_uc010eso.2_Silent_p.D669D|NLRP2_uc010esp.2_Silent_p.D650D NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 672 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTGAATCAGACGCCGAGGTTG 0.507 PTPRH 5794 broad.mit.edu 37 19 55693402 55693402 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr19:55693402C>T uc002qjq.2 - 19 3253 c.3180G>A c.(3178-3180)CCG>CCA p.P1060P PTPRH_uc010esv.2_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1060 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCACCATCAACGGCCGACTCT 0.637 DYSF 8291 broad.mit.edu 37 2 71801344 71801344 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr2:71801344C>T uc002sie.2 + 30 3567 c.3191C>T c.(3190-3192)GCG>GTG p.A1064V DYSF_uc010feg.2_Missense_Mutation_p.A1095V|DYSF_uc010feh.2_Missense_Mutation_p.A1050V|DYSF_uc002sig.3_Missense_Mutation_p.A1050V|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.A1064V|DYSF_uc010fef.2_Missense_Mutation_p.A1081V|DYSF_uc010fei.2_Missense_Mutation_p.A1081V|DYSF_uc010fek.2_Missense_Mutation_p.A1082V|DYSF_uc010fej.2_Missense_Mutation_p.A1051V|DYSF_uc010fel.2_Missense_Mutation_p.A1051V|DYSF_uc010feo.2_Missense_Mutation_p.A1096V|DYSF_uc010fem.2_Missense_Mutation_p.A1065V|DYSF_uc010fen.2_Missense_Mutation_p.A1082V|DYSF_uc002sif.2_Missense_Mutation_p.A1065V|DYSF_uc010yqy.1_5'Flank NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1064 Cytoplasmic (Potential).|Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAGGCGGAGGCGGAGGGCGAG 0.662 SLC9A4 389015 broad.mit.edu 37 2 103095611 103095611 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr2:103095611C>T uc002tbz.3 + 2 1027 c.570C>T c.(568-570)GAC>GAT p.D190D NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 190 Extracellular (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCCTGGGCGACGTCAACCTGC 0.632 DPP10 57628 broad.mit.edu 37 2 116447456 116447456 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr2:116447456G>A uc002tla.1 + 7 992 c.535G>A c.(535-537)GTC>ATC p.V179I DPP10_uc002tlb.1_Missense_Mutation_p.V129I|DPP10_uc002tlc.1_Missense_Mutation_p.V175I|DPP10_uc002tle.2_Missense_Mutation_p.V183I|DPP10_uc002tlf.1_Missense_Mutation_p.V172I NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 179 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AGAGGACTCCGTCTTGCAGTA 0.438 ABCB11 8647 broad.mit.edu 37 2 169850255 169850255 + Missense_Mutation SNP G C C TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr2:169850255G>C uc002ueo.1 - 8 875 c.749C>G c.(748-750)CCT>CGT p.P250R NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 250 Helical; (Potential).|ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CCCAATGAGAGGGCTGACAGA 0.453 ZNF337 26152 broad.mit.edu 37 20 25666266 25666266 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr20:25666266G>A uc002wva.2 - 3 709 c.187C>T c.(187-189)CGG>TGG p.R63W ZNF337_uc010ztg.1_Intron|ZNF337_uc002wvb.2_Missense_Mutation_p.R63W|ZNF337_uc002wvc.2_Missense_Mutation_p.R63W NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCTCTAGCCGCCTGATGAGT 0.577 STAU1 6780 broad.mit.edu 37 20 47741010 47741010 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr20:47741010C>T uc002xud.2 - 7 1135 c.724G>A c.(724-726)GCC>ACC p.A242T STAU1_uc002xua.2_Missense_Mutation_p.A161T|STAU1_uc002xub.2_Missense_Mutation_p.A167T|STAU1_uc002xuc.2_Missense_Mutation_p.A161T|STAU1_uc002xue.2_Missense_Mutation_p.A161T|STAU1_uc002xuf.2_Missense_Mutation_p.A167T|STAU1_uc002xug.2_Missense_Mutation_p.A242T NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 242 DRBM 2. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding p.A242T(1) ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) ACAGCTATGGCGGCATTTTTC 0.468 FBLN2 2199 broad.mit.edu 37 3 13670777 13670777 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr3:13670777G>A uc011avb.1 + 12 2811 c.2686G>A c.(2686-2688)GGC>AGC p.G896S FBLN2_uc011auz.1_Missense_Mutation_p.G922S|FBLN2_uc011ava.1_Missense_Mutation_p.G943S|FBLN2_uc011avc.1_Missense_Mutation_p.G943S NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 896 EGF-like 6; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GGATGCCTTTGGCCGGGGCTG 0.662 TRAT1 50852 broad.mit.edu 37 3 108549621 108549621 + Nonsense_Mutation SNP C T T rs148894492 TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr3:108549621C>T uc003dxi.1 + 2 256 c.112C>T c.(112-114)CGA>TGA p.R38* TRAT1_uc010hpx.1_Intron NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 38 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 GGAAAAGCAACGACAAGGTAA 0.418 IFT80 57560 broad.mit.edu 37 3 160083930 160083930 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr3:160083930C>T uc011boy.1 - 6 883 c.450G>A c.(448-450)GTG>GTA p.V150V IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.V13V|IFT80_uc003fdd.1_Intron|IFT80_uc003fde.1_Silent_p.V13V NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 150 WD 3. cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTACTGAATACACTGGTGTTC 0.353 RBM47 54502 broad.mit.edu 37 4 40440481 40440481 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:40440481C>T uc003gvc.2 - 4 1140 c.430G>A c.(430-432)GTG>ATG p.V144M RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 144 RRM 1. nucleus nucleotide binding|RNA binding breast(3) 3 CTGCAGCACACGCCGAGCAGG 0.637 LRRC66 339977 broad.mit.edu 37 4 52869513 52869513 + Missense_Mutation SNP T C C TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:52869513T>C uc003gzi.2 - 2 555 c.542A>G c.(541-543)AAT>AGT p.N181S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 181 LRR 4. integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CAATATCCCATTGAATGACAG 0.313 SULT1B1 27284 broad.mit.edu 37 4 70596318 70596318 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:70596318G>A uc003hen.2 - 7 977 c.679C>T c.(679-681)CAC>TAC p.H227Y NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 227 PAPS (By similarity). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 AATGAGGTGTGATGGATGATC 0.378 C4orf40 401137 broad.mit.edu 37 4 71021774 71021774 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:71021774C>T uc003hfa.3 + 3 128 c.55C>T c.(55-57)CGG>TGG p.R19W C4orf40_uc003hfb.3_Missense_Mutation_p.R19W NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 19 extracellular region 0 ATTTTAGAGACGGTTCCCCTT 0.259 AFM 173 broad.mit.edu 37 4 74365901 74365901 + Missense_Mutation SNP A C C rs149561663 TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:74365901A>C uc003hhb.2 + 12 1634 c.1603A>C c.(1603-1605)ATG>CTG p.M535L NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 535 Albumin 3. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCACGCAGACATGTGTCAATC 0.393 AGXT2L1 64850 broad.mit.edu 37 4 109667553 109667553 + Splice_Site SNP A G G TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:109667553A>G uc003hzc.2 - 11 1484 c.1303_splice c.e11+1 p.V435_splice AGXT2L1_uc010imc.2_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.1_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.1_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.1_Splice_Site_p.V377_splice NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) CCATGGACCCACCTGTTAGAA 0.413 SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - G G rs141446866 TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:119745869_119745870insG uc003ici.3 - 3 425_426 c.153_154insC c.(151-156)ACCGCCfs p.T51fs SEC24D_uc003icj.3_Frame_Shift_Ins_p.T51fs|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 51_52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 CCCCTAGTGGCGGTGGCCCCCA 0.540 SYNPO2 171024 broad.mit.edu 37 4 119948017 119948017 + Nonsense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr4:119948017C>T uc003icm.3 + 3 689 c.493C>T c.(493-495)CAA>TAA p.Q165* SYNPO2_uc010ina.2_Nonsense_Mutation_p.Q165*|SYNPO2_uc010inb.2_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Nonsense_Mutation_p.Q93* NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 165 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CCCGAGCTACCAAAGGGCTCC 0.557 CAMK4 814 broad.mit.edu 37 5 110818505 110818505 + Missense_Mutation SNP A C C TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr5:110818505A>C uc011cvj.1 + 11 950 c.851A>C c.(850-852)GAT>GCT p.D284A CAMK4_uc003kpf.2_Missense_Mutation_p.D284A|CAMK4_uc010jbv.2_Missense_Mutation_p.D87A|CAMK4_uc003kpg.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 284 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATTGTTTTGGATCCAAAGAAA 0.423 PCDHB7 56129 broad.mit.edu 37 5 140553289 140553289 + Silent SNP G T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr5:140553289G>T uc003lit.2 + 1 1047 c.873G>T c.(871-873)ACG>ACT p.T291T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 291 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTCAAAACGTTTCAAATCA 0.418 KIAA1244 57221 broad.mit.edu 37 6 138559683 138559683 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr6:138559683G>A uc003qhu.2 + 6 458 c.458G>A c.(457-459)CGT>CAT p.R153H NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 153 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TGTCACCAGCGTAGCATAAAC 0.453 RNASET2 8635 broad.mit.edu 37 6 167360227 167360227 + Nonsense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr6:167360227C>T uc003qve.2 - 4 611 c.204G>A c.(202-204)TGG>TGA p.W68* RNASET2_uc003qvh.2_Intron|RNASET2_uc003qvf.2_5'UTR|RNASET2_uc003qvg.2_Silent_p.K5K|RNASET2_uc003qvi.1_Intron NM_003730 NP_003721 O00584 RNT2_HUMAN ribonuclease T2 precursor 68 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) TTTTATCGGGCCTGGAAATTC 0.348 ABCA13 154664 broad.mit.edu 37 7 48443394 48443394 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr7:48443394C>T uc003toq.2 + 39 12013 c.11988C>T c.(11986-11988)ACC>ACT p.T3996T ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3996 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGTCGAGGACCGTGGTTCTGG 0.572 EIF4H 7458 broad.mit.edu 37 7 73601967 73601967 + Missense_Mutation SNP G T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr7:73601967G>T uc003uad.1 + 2 94 c.86G>T c.(85-87)GGT>GTT p.G29V RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc010lbm.2_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V|EIF4H_uc003uaf.1_Intron NM_022170 NP_071496 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 29 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 GGTGGCCATGGTTCCCGTAGC 0.527 PILRA 29992 broad.mit.edu 37 7 99996939 99996939 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr7:99996939C>T uc003uuo.1 + 5 945 c.733C>T c.(733-735)CCA>TCA p.P245S PILRA_uc011kjo.1_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 245 Cytoplasmic (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACAGAGGAGCCATATGAGAA 0.483 GRM8 2918 broad.mit.edu 37 7 126249517 126249517 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr7:126249517C>T uc003vlr.2 - 7 1704 c.1393G>A c.(1393-1395)GGA>AGA p.G465R GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 465 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGAGCATCTCCGTTTTCATTA 0.378 HNSCC(24;0.065) IDO1 3620 broad.mit.edu 37 8 39782809 39782809 + Missense_Mutation SNP T A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr8:39782809T>A uc003xnm.2 + 9 889 c.775T>A c.(775-777)TTT>ATT p.F259I IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 259 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) CCCAAAGGAGTTTGCAGGGGG 0.507 RAD21 5885 broad.mit.edu 37 8 117875483 117875483 + Missense_Mutation SNP G A A TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr8:117875483G>A uc003yod.2 - 3 448 c.160C>T c.(160-162)CGG>TGG p.R54W NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 54 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CCTGATGTCCGTAATGCCATT 0.348 PALM2-AKAP2 445815 broad.mit.edu 37 9 112686091 112686091 + Silent SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chr9:112686091C>T uc004bei.2 + 4 526 c.334C>T c.(334-336)CTG>TTG p.L112L PALM2_uc004bef.2_Silent_p.L114L|PALM2_uc004beg.2_Silent_p.L114L|PALM2_uc004beh.3_Silent_p.L112L|PALM2-AKAP2_uc004bek.3_Silent_p.L112L|PALM2-AKAP2_uc004bej.3_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:Variant_position_missing_in_Q9Y2D5_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CCTAGAGAAACTGAAGGAAAC 0.403 SERPINA7 6906 broad.mit.edu 37 X 105280734 105280734 + Missense_Mutation SNP C T T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 6eef4a0e-3fef-4529-8193-21b380d96344 cebad0a3-5b2f-4236-baff-dc3cfb5e886f g.chrX:105280734C>T uc004eme.1 - 1 332 c.316G>A c.(316-318)GTA>ATA p.V106I SERPINA7_uc010npd.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.1_Missense_Mutation_p.V106I NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 106 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGATCTCTACCATTGGAGTG 0.478