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 LPHN2 23266 broad.mit.edu 37 1 82421583 82421583 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:82421583A>T uc001dit.3 + 10 1986 c.1805A>T c.(1804-1806)AAC>ATC p.N602I LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.N602I|LPHN2_uc001div.2_Missense_Mutation_p.N602I|LPHN2_uc009wcd.2_Missense_Mutation_p.N602I|LPHN2_uc001diw.2_Missense_Mutation_p.N186I NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 615 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACAGTGGACAACCTTCTGAGA 0.388000 PKN2 5586 broad.mit.edu 37 1 89273385 89273385 + Nonsense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:89273385A>T uc001dmn.2 + 15 2371 c.2029A>T c.(2029-2031)AAA>TAA p.K677* PKN2_uc010osp.1_Nonsense_Mutation_p.K661*|PKN2_uc010osq.1_Nonsense_Mutation_p.K520*|PKN2_uc009wcv.2_Nonsense_Mutation_p.K629*|PKN2_uc010osr.1_Nonsense_Mutation_p.K342* NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 677 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AGCTGAATATAAAAACACAAA 0.264000 LASS2 29956 broad.mit.edu 37 1 150940919 150940919 + Silent SNP G G A rs143495079 byFrequency TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:150940919G>A uc001evy.2 - 3 630 c.243C>T c.(241-243)AAC>AAT p.N81N LASS2_uc001evz.2_Silent_p.N81N|LASS2_uc009wmh.2_Translation_Start_Site NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 81 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCAAGGTGGCGTTGGGAGGTG 0.557000 IQGAP3 128239 broad.mit.edu 37 1 156524092 156524092 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:156524092G>A uc001fpf.2 - 13 1458 c.1383C>T c.(1381-1383)GGC>GGT p.G461G IQGAP3_uc009wsb.1_Silent_p.G418G NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 461 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCTCCAGAAGCCACTGGCAT 0.607000 CD1C 911 broad.mit.edu 37 1 158261141 158261141 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:158261141T>C uc001fru.2 + 2 571 c.279T>C c.(277-279)TTT>TTC p.F93F CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 93 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TCTACCTCTTTGGATTAACTC 0.378000 SPTA1 6708 broad.mit.edu 37 1 158595998 158595998 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:158595998T>G uc001fst.1 - 42 6047 c.5848A>C c.(5848-5850)AGC>CGC p.S1950R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1950 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCTTTAGGCTTGTTTCCTTA 0.408000 SPTA1 6708 broad.mit.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:158606546T>G uc001fst.1 - 37 5394 c.5195A>C c.(5194-5196)AAG>ACG p.K1732T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1732 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCGTATCAACTTCTCCCTAAA 0.473000 LMX1A 4009 broad.mit.edu 37 1 165182992 165182992 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:165182992A>G uc001gcy.1 - 4 776 c.555T>C c.(553-555)ACT>ACC p.T185T LMX1A_uc001gcz.1_Silent_p.T185T|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 185 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CTTCCTCAGCAGTTCCTTTCC 0.488000 ASPM 259266 broad.mit.edu 37 1 197111713 197111713 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:197111713T>A uc001gtu.2 - 3 1926 c.1669A>T c.(1669-1671)AGT>TGT p.S557C ASPM_uc001gtv.2_Missense_Mutation_p.S557C|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 557 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTTTTATAACTCTTAGATTTA 0.343000 PTPRC 5788 broad.mit.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:198711490A>C uc001gur.1 + 25 2865 c.2685A>C c.(2683-2685)CAA>CAC p.Q895H PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 895 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. Substrate (By similarity). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGATGGTTCAAGTAGAGGTAT 0.363000 MYBPH 4608 broad.mit.edu 37 1 203144565 203144565 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:203144565A>G uc001gzh.1 - 2 289 c.230T>C c.(229-231)CTG>CCG p.L77P FMOD_uc010pqi.1_Intron NM_004997 NP_004988 Q13203 MYBPH_HUMAN myosin binding protein H 77 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) ATCCAGGGTCAGCAGCAGTGG 0.652000 ESRRG 2104 broad.mit.edu 37 1 216692701 216692701 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr1:216692701A>C uc001hkw.1 - 6 1091 c.925T>G c.(925-927)TTG>GTG p.L309V ESRRG_uc001hky.1_Missense_Mutation_p.L286V|ESRRG_uc009xdp.1_Missense_Mutation_p.L286V|ESRRG_uc001hkz.1_Missense_Mutation_p.L247V|ESRRG_uc010puc.1_Missense_Mutation_p.L286V|ESRRG_uc001hla.1_Missense_Mutation_p.L286V|ESRRG_uc001hlb.1_Missense_Mutation_p.L286V|ESRRG_uc010pud.1_Missense_Mutation_p.L117V|ESRRG_uc001hlc.1_Missense_Mutation_p.L286V|ESRRG_uc001hld.1_Missense_Mutation_p.L286V|ESRRG_uc001hkx.1_Missense_Mutation_p.L321V|ESRRG_uc009xdo.1_Missense_Mutation_p.L286V|ESRRG_uc001hle.1_Missense_Mutation_p.L286V NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 309 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCAAGGATCAAAATTTCCATC 0.473000 CUBN 8029 broad.mit.edu 37 10 16918918 16918918 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr10:16918918G>C uc001ioo.2 - 57 9136 c.9084C>G c.(9082-9084)TTC>TTG p.F3028L CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.F384L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3028 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGAAAACTTGAATCCGAAGT 0.433000 MYO3A 53904 broad.mit.edu 37 10 26463375 26463375 + Nonsense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr10:26463375T>A uc001isn.2 + 30 4542 c.4182T>A c.(4180-4182)TAT>TAA p.Y1394* MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1394 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 ATAATTTGTATTCCTATCCCA 0.383000 SORBS1 10580 broad.mit.edu 37 10 97141493 97141493 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr10:97141493G>A uc001kkp.2 - 16 1647 c.1602C>T c.(1600-1602)AGC>AGT p.S534S SORBS1_uc001kkk.2_Silent_p.S112S|SORBS1_uc001kkl.2_Silent_p.S136S|SORBS1_uc001kkn.2_Silent_p.S321S|SORBS1_uc001kkm.2_Silent_p.S390S|SORBS1_uc001kko.2_Silent_p.S556S|SORBS1_uc001kkq.2_Silent_p.S419S|SORBS1_uc001kkr.2_Silent_p.S324S|SORBS1_uc001kks.2_Silent_p.S324S|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.S365S|SORBS1_uc001kkv.2_Silent_p.S456S|SORBS1_uc001kkw.2_Silent_p.S488S|SORBS1_uc010qoe.1_Silent_p.S333S|SORBS1_uc010qof.1_Silent_p.S686S NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 534 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) ATTCGTAAATGCTCTTGGGCT 0.393000 CPN1 1369 broad.mit.edu 37 10 101824989 101824989 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr10:101824989G>A uc001kql.2 - 4 975 c.715C>T c.(715-717)CGC>TGC p.R239C NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 239 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CTGGCGGTGCGGCGGACCCCT 0.607000 OR51D1 390038 broad.mit.edu 37 11 4661157 4661157 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:4661157T>G uc010qyk.1 + 1 137 c.137T>G c.(136-138)TTT>TGT p.F46C NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACTGTGTTTTATGTATGCC 0.522000 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624861 5624861 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:5624861T>C uc001mbf.2 + 2 647 c.403T>C c.(403-405)TTC>CTC p.F135L HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Missense_Mutation_p.F107L|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Missense_Mutation_p.F135L|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 135 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) ACTGCAGCTCTTCTGTCAGGA 0.557000 OR52N1 79473 broad.mit.edu 37 11 5809592 5809592 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:5809592A>G uc010qzo.1 - 1 455 c.455T>C c.(454-456)CTT>CCT p.L152P TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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) CACACCCCTAAGAAAAGTGAG 0.517000 OR2AG2 338755 broad.mit.edu 37 11 6789842 6789842 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:6789842G>A uc001meq.1 - 1 347 c.347C>T c.(346-348)GCC>GTC p.A116V NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGCCATGAAGGCCAGTAGGAG 0.527000 SYT9 143425 broad.mit.edu 37 11 7439317 7439317 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:7439317T>C uc001mfe.2 + 5 1532 c.1295T>C c.(1294-1296)ATT>ACT p.I432T SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 432 Cytoplasmic (Potential).|C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CCCGAGAACATTGACCAAATC 0.488000 BTBD10 84280 broad.mit.edu 37 11 13441177 13441177 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:13441177A>C uc001mkz.2 - 4 671 c.414T>G c.(412-414)AGT>AGG p.S138R BTBD10_uc010rcl.1_Missense_Mutation_p.S146R|BTBD10_uc001mla.2_Missense_Mutation_p.S122R|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S90R|BTBD10_uc010rcn.1_Missense_Mutation_p.S107R|BTBD10_uc009ygo.2_Missense_Mutation_p.S90R NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 138 Ser-rich. nucleus 0 Epithelial(150;0.0214) TACCATCTGAACTTGACTGAC 0.463000 TRAF6 7189 broad.mit.edu 37 11 36512115 36512115 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:36512115C>T uc001mwr.1 - 8 1182 c.842G>A c.(841-843)AGC>AAC p.S281N TRAF6_uc001mws.1_Missense_Mutation_p.S281N NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 281 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GGGTATAACGCTCAAACTATG 0.478000 HSD17B12 51144 broad.mit.edu 37 11 43876699 43876699 + Silent SNP G G A rs139099004 byFrequency TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:43876699G>A uc001mxq.3 + 11 1075 c.840G>A c.(838-840)TCG>TCA p.S280S NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 280 Helical; (Potential). long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity 0 CCTAGGGCTCGATAATCTCAA 0.333000 OR4P4 81300 broad.mit.edu 37 11 55405859 55405859 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:55405859T>C uc010rij.1 + 1 26 c.26T>C c.(25-27)TTG>TCG p.L9S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AATAGCACTTTGTTTATTCTC 0.323000 PCNXL3 399909 broad.mit.edu 37 11 65387008 65387008 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:65387008C>T uc001oey.2 + 7 1706 c.1706C>T c.(1705-1707)GCG>GTG p.A569V NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 569 integral to membrane 0 CTCTGGGCAGCGGCCGAGGAG 0.607000 LRRC32 2615 broad.mit.edu 37 11 76371306 76371306 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:76371306G>C uc001oxq.3 - 3 1574 c.1331C>G c.(1330-1332)TCC>TGC p.S444C LRRC32_uc001oxr.3_Missense_Mutation_p.S444C|LRRC32_uc010rsf.1_Missense_Mutation_p.S444C NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 444 LRR 16.|Extracellular (Potential). integral to plasma membrane 0 GCTGCGGAGGGAGGTGATGCC 0.642000 CCDC89 220388 broad.mit.edu 37 11 85396349 85396349 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:85396349C>A uc001pau.1 - 1 972 c.825G>T c.(823-825)TTG>TTT p.L275F NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 275 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACAGCTGCAGCAACTCCTCTT 0.532000 PGR 5241 broad.mit.edu 37 11 100999184 100999184 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:100999184G>A uc001pgh.2 - 1 1361 c.618C>T c.(616-618)TCC>TCT p.S206S PGR_uc001pgi.2_Silent_p.S206S|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 206 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTGGGGCCCCGGACCAGTGAG 0.692000 OR10G7 390265 broad.mit.edu 37 11 123908818 123908818 + Silent SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr11:123908818A>C uc001pzq.1 - 1 891 c.891T>G c.(889-891)GCT>GCG p.A297A NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GCTTCAACAGAGCTTTCTTTA 0.408000 CD163 9332 broad.mit.edu 37 12 7639263 7639263 + Nonsense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr12:7639263C>A uc001qsz.3 - 10 2418 c.2290G>T c.(2290-2292)GAG>TAG p.E764* CD163_uc001qta.3_Nonsense_Mutation_p.E764*|CD163_uc009zfw.2_Nonsense_Mutation_p.E797* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 764 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TTAATGGCCTCTCCACAGCCC 0.532000 A2ML1 144568 broad.mit.edu 37 12 9004550 9004550 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr12:9004550G>A uc001quz.3 + 19 2503 c.2405G>A c.(2404-2406)CGT>CAT p.R802H A2ML1_uc001qva.1_Missense_Mutation_p.R382H|A2ML1_uc010sgm.1_Missense_Mutation_p.R302H NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 646 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TCAGTAGTCCGTGGGGAATCC 0.502000 SP1 6667 broad.mit.edu 37 12 53777235 53777235 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr12:53777235C>G uc001scw.2 + 3 1601 c.1504C>G c.(1504-1506)CTC>GTC p.L502V SP1_uc010sog.1_Missense_Mutation_p.L495V NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 502 Transactivation domain C (highly charged). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) CAACACCACTCTCACACCCAT 0.552000 MYF6 4618 broad.mit.edu 37 12 81101535 81101535 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr12:81101535T>G uc001szf.1 + 1 90 c.37T>G c.(37-39)TTC>GTC p.F13V NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 13 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CTCCTATTTCTTCTACTTGGA 0.493000 OAS1 4938 broad.mit.edu 37 12 113346553 113346553 + Silent SNP G G A rs147639145 by1000genomes TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr12:113346553G>A uc001tud.2 + 2 499 c.393G>A c.(391-393)GCG>GCA p.A131A OAS1_uc010syn.1_Silent_p.A130A|OAS1_uc010syo.1_Silent_p.A130A|OAS1_uc001tub.2_Silent_p.A131A|OAS1_uc001tuc.2_Silent_p.A131A|OAS1_uc009zwf.2_Silent_p.A130A NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 131 Necessary for binding to dsRNA. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 ACCCCCGTGCGCTCAGCTTCG 0.572000 POU4F1 5457 broad.mit.edu 37 13 79175862 79175862 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr13:79175862C>T uc001vkv.2 - 2 1182 c.948G>A c.(946-948)ACG>ACA p.T316T uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 316 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TGTGCGAGAGCGTGAGCGACT 0.652000 NALCN 259232 broad.mit.edu 37 13 101717784 101717784 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr13:101717784C>T uc001vox.1 - 40 4765 c.4576G>A c.(4576-4578)GGC>AGC p.G1526S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1526 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTGACGTCGCCGCCATTGTGG 0.587000 NALCN 259232 broad.mit.edu 37 13 101747941 101747941 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr13:101747941A>G uc001vox.1 - 28 3442 c.3253T>C c.(3253-3255)TGG>CGG p.W1085R NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1085 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CGGGGCACCCAAAATCCAGGT 0.333000 SOS2 6655 broad.mit.edu 37 14 50666574 50666574 + Splice_Site SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr14:50666574C>T uc001wxs.3 - 4 444 c.346_splice c.e4-1 p.E116_splice SOS2_uc010tql.1_Splice_Site_p.E116_splice NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) CTAATACTTCCTGTGAAAAGA 0.294000 ACOT4 122970 broad.mit.edu 37 14 74060458 74060458 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr14:74060458C>T uc001xoo.2 + 2 764 c.510C>T c.(508-510)CTC>CTT p.L170L NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 170 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) GAGGGGGCCTCTTGGAATATC 0.423000 FLRT2 23768 broad.mit.edu 37 14 86089626 86089626 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr14:86089626G>A uc001xvr.2 + 2 2535 c.1768G>A c.(1768-1770)GAG>AAG p.E590K FLRT2_uc010atd.2_Missense_Mutation_p.E590K NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 590 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGATTATTGCGAGGCAGGCAC 0.488000 KIAA1409 57578 broad.mit.edu 37 14 94088470 94088470 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr14:94088470T>G uc001ybv.1 + 28 4509 c.4426T>G c.(4426-4428)TCT>GCT p.S1476A KIAA1409_uc001ybs.1_Missense_Mutation_p.S1454A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1631 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CGACAGCGACTCTCTTGTATT 0.488000 SERPINA5 5104 broad.mit.edu 37 14 95058443 95058443 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr14:95058443C>T uc001ydm.2 + 6 1298 c.1088C>T c.(1087-1089)GCG>GTG p.A363V SERPINA3_uc001ydo.3_5'UTR NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 363 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ACCAGAGCAGCGGCAGCCACG 0.567000 MKRN3 7681 broad.mit.edu 37 15 23811873 23811873 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr15:23811873T>C uc001ywh.3 + 1 1420 c.944T>C c.(943-945)ATG>ACG p.M315T MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.M315T NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 315 RING-type. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGCATCTGCATGGAGGTTGTC 0.498000 BAHD1 22893 broad.mit.edu 37 15 40754422 40754422 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr15:40754422C>T uc001zlu.2 + 3 1815 c.1744C>T c.(1744-1746)CGC>TGC p.R582C BAHD1_uc001zlt.2_Missense_Mutation_p.R581C|BAHD1_uc010bbp.1_Missense_Mutation_p.R581C|BAHD1_uc001zlv.2_Missense_Mutation_p.R582C NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 582 Arg-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ACGCCCTCGCCGCCGCCGTCG 0.647000 PKM2 5315 broad.mit.edu 37 15 72511293 72511293 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr15:72511293C>T uc002atx.1 - 2 387 c.146G>A c.(145-147)TGT>TAT p.C49Y PKM2_uc010bit.1_Missense_Mutation_p.C54Y|PKM2_uc010uki.1_Missense_Mutation_p.C123Y|PKM2_uc002atv.1_Missense_Mutation_p.C84Y|PKM2_uc002atw.1_Missense_Mutation_p.C49Y|PKM2_uc002aty.1_Missense_Mutation_p.C49Y|PKM2_uc010ukj.1_Missense_Mutation_p.V65I|PKM2_uc010ukk.1_Missense_Mutation_p.C49Y|PKM2_uc010biu.1_Missense_Mutation_p.C70Y|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 49 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) ACCAATGGTACAGATGATGCC 0.527000 BBS4 585 broad.mit.edu 37 15 73023934 73023934 + Silent SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr15:73023934C>G uc002avb.2 + 12 946 c.903C>G c.(901-903)CCC>CCG p.P301P BBS4_uc010ukv.1_Silent_p.P289P|BBS4_uc002avc.2_Silent_p.P129P|BBS4_uc002avd.2_Silent_p.P309P|BBS4_uc010bja.2_Silent_p.P57P NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 301 Interaction with PCM1.|TPR 7. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 ACTTGGCACCCTTTGATTGGA 0.473000 Bardet-Biedl_syndrome HAPLN3 145864 broad.mit.edu 37 15 89421211 89421211 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr15:89421211C>T uc002bnc.2 - 5 1201 c.1073G>A c.(1072-1074)CGC>CAC p.R358H HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R420H NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 358 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) CTAGTGCTGGCGGTAGCAGTA 0.587000 TRAF7 84231 broad.mit.edu 37 16 2223996 2223996 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:2223996G>A uc002cow.2 + 13 1309 c.1210G>A c.(1210-1212)GTC>ATC p.V404I NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 404 WD 1. activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 GTGTCTCTGCGTCTACTCCAT 0.597000 SULT1A2 6799 broad.mit.edu 37 16 28606764 28606764 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:28606764G>T uc002dqg.1 - 4 647 c.296C>A c.(295-297)ACA>AAA p.T99K uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.T99K NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 99 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TGGGGCTGGTGTGTTTTTCAG 0.537000 KIF22 3835 broad.mit.edu 37 16 29810471 29810471 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:29810471G>A uc002dts.3 + 5 749 c.725G>A c.(724-726)CGC>CAC p.R242H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.R174H|KIF22_uc010vdw.1_Missense_Mutation_p.R174H|KIF22_uc010bzf.2_Missense_Mutation_p.R174H NM_007317 NP_015556 Q14807 KIF22_HUMAN kinesin family member 22 242 Kinesin-motor. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding 0 CTCAACCAGCGCTCCTCCCGC 0.612000 SALL1 6299 broad.mit.edu 37 16 51173596 51173596 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:51173596G>A uc010vgs.1 - 2 2568 c.2537C>T c.(2536-2538)GCC>GTC p.A846V SALL1_uc010vgr.1_Missense_Mutation_p.A749V|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 846 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTCTTGGGAGGCGTCTGCAGA 0.478000 IRX6 79190 broad.mit.edu 37 16 55363013 55363013 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:55363013A>C uc002ehy.2 + 5 1656 c.1123A>C c.(1123-1125)AGT>CGT p.S375R IRX6_uc002ehx.2_Missense_Mutation_p.S375R NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 375 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 TAGGCCACGAAGTCCTGAGTG 0.637000 KARS 3735 broad.mit.edu 37 16 75665710 75665710 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:75665710C>T uc002feq.2 - 8 1007 c.959G>A c.(958-960)CGC>CAC p.R320H KARS_uc002fer.2_Missense_Mutation_p.R348H|KARS_uc002fes.2_Missense_Mutation_p.R164H NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 320 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) CCGGAACTGGCGTCCAATTTC 0.438000 CNTNAP4 85445 broad.mit.edu 37 16 76569647 76569647 + Silent SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr16:76569647T>G uc002feu.1 + 20 3346 c.2961T>G c.(2959-2961)ACT>ACG p.T987T CNTNAP4_uc002fev.1_Silent_p.T851T|CNTNAP4_uc010chb.1_Silent_p.T914T|CNTNAP4_uc002fex.1_Silent_p.T990T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 987 Extracellular (Potential).|EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GTGACTGCACTTTCTCTGCAT 0.458000 SMG6 23293 broad.mit.edu 37 17 2202841 2202841 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr17:2202841C>A uc002fub.1 - 2 1261 c.1206G>T c.(1204-1206)CGG>CGT p.R402R SMG6_uc002fud.1_Silent_p.R371R NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 402 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 GACCACGACCCCGAAGTTCTT 0.532000 TP53 7157 broad.mit.edu 37 17 7573994 7573994 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr17:7573994T>C uc002gim.2 - 10 1227 c.1033A>G c.(1033-1035)AAT>GAT p.N345D TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.N213D|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.N345D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 345 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Nuclear export signal.|Interaction with HIPK2. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.N345fs*25(3)|p.L344fs*23(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAGGCCTCATTCAGCTCTCGG 0.527000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SSH2 85464 broad.mit.edu 37 17 27999110 27999110 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr17:27999110C>T uc002heo.1 - 8 571 c.571G>A c.(571-573)GCC>ACC p.A191T SSH2_uc010wbh.1_Missense_Mutation_p.A218T|SSH2_uc002hep.1_Missense_Mutation_p.A191T NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 191 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TGCGCTCTGGCGACTTCACAA 0.468000 THRA 7067 broad.mit.edu 37 17 38244651 38244651 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr17:38244651G>A uc002htw.2 + 8 1363 c.880G>A c.(880-882)GTA>ATA p.V294I THRA_uc010cwp.1_Missense_Mutation_p.V294I|THRA_uc002htv.2_Missense_Mutation_p.V294I|THRA_uc002htx.2_Missense_Mutation_p.V294I NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 294 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) CGGCCTGGGCGTAGTCTCCGA 0.607000 COLEC12 81035 broad.mit.edu 37 18 321787 321787 + Missense_Mutation SNP G G A rs138304922 TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:321787G>A uc002kkm.2 - 9 2299 c.2084C>T c.(2083-2085)CCG>CTG p.P695L NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 695 Extracellular (Potential).|C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCAGTTATCCGGCTGTCCAGC 0.428000 DLGAP1 9229 broad.mit.edu 37 18 3879582 3879582 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:3879582C>T uc002kmf.2 - 1 554 c.487G>A c.(487-489)GTC>ATC p.V163I DLGAP1_uc010wyz.1_Missense_Mutation_p.V163I|DLGAP1_uc002kmk.2_Missense_Mutation_p.V163I|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 163 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CCCCCGTTGACGCTGCCCTTG 0.716000 C18orf34 374864 broad.mit.edu 37 18 30847187 30847187 + Silent SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:30847187T>A uc002kxn.2 - 12 1393 c.1251A>T c.(1249-1251)GCA>GCT p.A417A C18orf34_uc010dme.1_5'Flank|C18orf34_uc010xbr.1_Silent_p.A417A|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.A417A|C18orf34_uc002kxp.2_Silent_p.A417A NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 417 ovary(1) 1 AATCATTAACTGCTTCCAGAT 0.318000 ASXL3 80816 broad.mit.edu 37 18 31324793 31324793 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:31324793G>A uc010dmg.1 + 12 5036 c.4981G>A c.(4981-4983)GTA>ATA p.V1661I ASXL3_uc002kxq.2_Missense_Mutation_p.V1368I NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1661 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CAGGAATCTTGTAACAAATGT 0.438000 CDH7 1005 broad.mit.edu 37 18 63511174 63511174 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:63511174G>T uc002ljz.2 + 7 1433 c.1108G>T c.(1108-1110)GAT>TAT p.D370Y CDH7_uc002lka.2_Missense_Mutation_p.D370Y|CDH7_uc002lkb.2_Missense_Mutation_p.D370Y NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 370 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AATTGTGGAAGATGTAGATGA 0.493000 CDH7 1005 broad.mit.edu 37 18 63547907 63547907 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr18:63547907G>T uc002ljz.2 + 12 2460 c.2135G>T c.(2134-2136)TGG>TTG p.W712L CDH7_uc002lkb.2_Missense_Mutation_p.W712L NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 712 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GAATTTATTTGGGAAAGATTA 0.438000 DAPK3 1613 broad.mit.edu 37 19 3969700 3969700 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:3969700G>A uc002lzc.1 - 1 127 c.34C>T c.(34-36)CAT>TAT p.H12Y DAPK3_uc002lzd.1_Missense_Mutation_p.H12Y NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 12 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCATAATGGTCCTCCACG 0.632000 OREG0025158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MUC16 94025 broad.mit.edu 37 19 9087815 9087815 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:9087815T>C uc002mkp.2 - 1 4204 c.4000A>G c.(4000-4002)AGT>GGT p.S1334G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1334 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 TGAGCTGAACTTGTATCCTTA 0.527000 ZNF208 7757 broad.mit.edu 37 19 22155381 22155381 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:22155381T>A uc002nqp.2 - 5 2304 c.2155A>T c.(2155-2157)ACC>TCC p.T719S 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) GTAGTAAGGGTTGAGACCTTA 0.353000 HKR1 284459 broad.mit.edu 37 19 37853775 37853775 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:37853775A>G uc002ogb.2 + 6 1347 c.1078A>G c.(1078-1080)AAG>GAG p.K360E HKR1_uc002ofx.2_Missense_Mutation_p.K76E|HKR1_uc002ofy.2_Missense_Mutation_p.K76E|HKR1_uc002oga.2_Missense_Mutation_p.K342E|HKR1_uc010xto.1_Missense_Mutation_p.K342E|HKR1_uc002ogc.2_Missense_Mutation_p.K341E|HKR1_uc010xtp.1_Missense_Mutation_p.K299E|HKR1_uc002ogd.2_Missense_Mutation_p.K299E NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 360 C2H2-type 3. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATGTGTGCAAGGAATGTGG 0.517000 PSG4 5672 broad.mit.edu 37 19 43698670 43698670 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:43698670G>A uc002ovy.2 - 5 1167 c.1065C>T c.(1063-1065)TTC>TTT p.F355F PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.F262F|PSG4_uc002ovz.2_Silent_p.F262F NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 355 Ig-like C2-type 3. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) TAGACTCGGCGAAGCAGGACA 0.453000 CARD8 22900 broad.mit.edu 37 19 48733886 48733886 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:48733886C>A uc002pie.3 - 6 839 c.526G>T c.(526-528)GCC>TCC p.A176S CARD8_uc002pii.3_Missense_Mutation_p.A282S|CARD8_uc010xzi.1_Missense_Mutation_p.A177S|CARD8_uc010els.2_Missense_Mutation_p.A215S|CARD8_uc010xzj.1_Missense_Mutation_p.A282S|CARD8_uc010xzk.1_Missense_Mutation_p.A201S|CARD8_uc002pif.3_Missense_Mutation_p.A176S|CARD8_uc002pig.3_Missense_Mutation_p.A7S|CARD8_uc002pih.3_Missense_Mutation_p.A232S|CARD8_uc010xzl.1_Missense_Mutation_p.A232S|CARD8_uc010xzm.1_Missense_Mutation_p.A282S NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 176 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) TCCACCCGGGCTGGATGCTCC 0.577000 PTOV1 53635 broad.mit.edu 37 19 50360274 50360274 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:50360274C>T uc002pqf.1 + 6 771 c.601C>T c.(601-603)CGC>TGC p.R201C PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.R169C|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 201 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CTGTGAGGTGCGCGTGCTCAT 0.657000 ZNF534 147658 broad.mit.edu 37 19 52937331 52937331 + Missense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:52937331C>G uc002pzk.2 + 2 200 c.139C>G c.(139-141)CTA>GTA p.L47V ZNF534_uc002pzj.1_Missense_Mutation_p.L47V|ZNF534_uc010epo.1_Missense_Mutation_p.L47V|ZNF534_uc002pzl.2_Missense_Mutation_p.L47V NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTGGTCTCCCTAGGTGAGGA 0.498000 NLRP7 199713 broad.mit.edu 37 19 55449462 55449462 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:55449462C>A uc002qih.3 - 5 2155 c.2079G>T c.(2077-2079)CGG>CGT p.R693R NLRP7_uc002qig.3_Silent_p.R665R|NLRP7_uc002qii.3_Silent_p.R693R|NLRP7_uc010esk.2_Silent_p.R693R|NLRP7_uc010esl.2_Silent_p.R721R NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 693 LRR 2. R -> W (in HYDM).|R -> P (in HYDM).|R -> Q (in HYDM). ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CACAAAGAATCCGCACAGAAG 0.468000 USP29 57663 broad.mit.edu 37 19 57641627 57641627 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:57641627A>G uc002qny.2 + 4 1940 c.1584A>G c.(1582-1584)CAA>CAG p.Q528Q NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 528 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATAACGAGCAAGTTTATATTC 0.408000 ZNF135 7694 broad.mit.edu 37 19 58578607 58578607 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:58578607G>A uc010yhq.1 + 5 887 c.791G>A c.(790-792)CGG>CAG p.R264Q ZNF135_uc002qre.2_Missense_Mutation_p.R252Q|ZNF135_uc002qrd.1_Missense_Mutation_p.R210Q|ZNF135_uc002qrf.2_Missense_Mutation_p.R210Q|ZNF135_uc002qrg.2_Missense_Mutation_p.R222Q|ZNF135_uc010yhr.1_Missense_Mutation_p.R73Q NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 264 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AAAGGCTTCCGGAACAGCTCG 0.507000 A1BG 1 broad.mit.edu 37 19 58862776 58862776 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr19:58862776G>A uc002qsd.3 - 5 953 c.891C>T c.(889-891)GTC>GTT p.V297V NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor 297 Ig-like V-type 3. extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GAATCAGCTCGACCGGCGCGC 0.662000 ALK 238 broad.mit.edu 37 2 29416759 29416759 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:29416759C>T uc002rmy.2 - 29 5101 c.4194G>A c.(4192-4194)CCG>CCA p.P1398P ALK_uc010ymo.1_Silent_p.P330P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1398 Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATATTCTATCGGCAAAGCGG 0.398000 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome PCBP1 5093 broad.mit.edu 37 2 70315122 70315122 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:70315122A>T uc002sgf.2 + 1 538 c.247A>T c.(247-249)ATC>TTC p.I83F ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank NM_006196 NP_006187 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 83 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding 0 GGAGGAAGATATCAACAGCTC 0.592000 DPP10 57628 broad.mit.edu 37 2 116503686 116503686 + Nonsense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:116503686A>T uc002tla.1 + 10 1334 c.877A>T c.(877-879)AAA>TAA p.K293* DPP10_uc002tlb.1_Nonsense_Mutation_p.K243*|DPP10_uc002tlc.1_Nonsense_Mutation_p.K289*|DPP10_uc002tle.2_Nonsense_Mutation_p.K297*|DPP10_uc002tlf.1_Nonsense_Mutation_p.K286* NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 293 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CCCAACAATAAAATTATATGT 0.333000 LRP1B 53353 broad.mit.edu 37 2 140995737 140995737 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:140995737A>C uc002tvj.1 - 89 14516 c.13544T>G c.(13543-13545)ATG>AGG p.M4515R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4515 Cytoplasmic (Potential). 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) TGGGTCTATCATAAAGCCAGG 0.373000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141093238 141093238 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:141093238A>G uc002tvj.1 - 78 13034 c.12062T>C c.(12061-12063)CTC>CCC p.L4021P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4021 Extracellular (Potential).|LDL-receptor class B 34. 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) ATTTGTTAAGAGTCTGGTGCA 0.413000 TSP Lung(27;0.18) SCN3A 6328 broad.mit.edu 37 2 166003271 166003271 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:166003271T>C uc002ucx.2 - 12 2141 c.1649A>G c.(1648-1650)AAA>AGA p.K550R SCN3A_uc002ucy.2_Missense_Mutation_p.K550R|SCN3A_uc002ucz.2_Missense_Mutation_p.K550R|SCN3A_uc002uda.1_Missense_Mutation_p.K419R|SCN3A_uc002udb.1_Missense_Mutation_p.K419R NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 550 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GCAGAATTTTTTGTCACTGGT 0.398000 HOXD10 3236 broad.mit.edu 37 2 176981726 176981726 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:176981726G>A uc002ukj.2 + 1 235 c.165G>A c.(163-165)CCG>CCA p.P55P NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 55 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GACTGCTCCCGTCTCTGGCCA 0.488000 TTN 7273 broad.mit.edu 37 2 179413171 179413171 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:179413171C>T uc010zfg.1 - 288 85702 c.85478G>A c.(85477-85479)CGT>CAT p.R28493H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22188H|TTN_uc010zfi.1_Missense_Mutation_p.R22121H|TTN_uc010zfj.1_Missense_Mutation_p.R21996H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29420 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) CTGCCAACTACGGCGACTTGC 0.498000 TTN 7273 broad.mit.edu 37 2 179424681 179424681 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:179424681T>G uc010zfg.1 - 275 78698 c.78474A>C c.(78472-78474)AAA>AAC p.K26158N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K19853N|TTN_uc010zfi.1_Missense_Mutation_p.K19786N|TTN_uc010zfj.1_Missense_Mutation_p.K19661N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27085 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) TATTGACAGATTTTACTCTGA 0.403000 TTN 7273 broad.mit.edu 37 2 179439187 179439187 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:179439187A>G uc010zfg.1 - 275 64192 c.63968T>C c.(63967-63969)CTT>CCT p.L21323P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L15018P|TTN_uc010zfi.1_Missense_Mutation_p.L14951P|TTN_uc010zfj.1_Missense_Mutation_p.L14826P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22250 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) ACCATCTGTAAGTCCACTTGA 0.418000 TTN 7273 broad.mit.edu 37 2 179600580 179600580 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:179600580A>G uc010zfg.1 - 47 11085 c.10861T>C c.(10861-10863)TAT>CAT p.Y3621H TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y282H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4548 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) TTACAAGAATAAACTCCTCTA 0.413000 ZDBF2 57683 broad.mit.edu 37 2 207172843 207172843 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr2:207172843T>C uc002vbp.2 + 5 3841 c.3591T>C c.(3589-3591)TCT>TCC p.S1197S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1197 nucleic acid binding|zinc ion binding ovary(3) 3 GTTGTGGTTCTGAAGTAAGTT 0.418000 PROKR2 128674 broad.mit.edu 37 20 5294674 5294674 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr20:5294674G>A uc010zqw.1 - 1 342 c.342C>T c.(340-342)TAC>TAT p.Y114Y PROKR2_uc010zqx.1_Silent_p.Y114Y|PROKR2_uc010zqy.1_Silent_p.Y114Y|uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 114 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCCGTACCACGTAGTAGTCCA 0.582000 HNSCC(71;0.22) DNMT3B 1789 broad.mit.edu 37 20 31387101 31387101 + Nonsense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr20:31387101C>T uc002wyc.2 + 16 2047 c.1726C>T c.(1726-1728)CGA>TGA p.R576* DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Nonsense_Mutation_p.R556*|DNMT3B_uc002wye.2_Nonsense_Mutation_p.R556*|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Nonsense_Mutation_p.R514*|DNMT3B_uc010zua.1_Nonsense_Mutation_p.R480*|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.R568*|DNMT3B_uc002wyg.2_Nonsense_Mutation_p.R275*|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 576 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 GCGGCCCATTCGAGTCCTGTC 0.587000 DLGAP4 22839 broad.mit.edu 37 20 35125434 35125434 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr20:35125434G>T uc002xff.2 + 8 2410 c.1975G>T c.(1975-1977)GCC>TCC p.A659S DLGAP4_uc010zvp.1_Missense_Mutation_p.A659S|DLGAP4_uc002xfg.2_5'UTR|DLGAP4_uc002xfh.2_Missense_Mutation_p.A120S|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'Flank NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 659 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCCCGAGGCCGCCCCCAAAAG 0.577000 ZHX3 23051 broad.mit.edu 37 20 39830759 39830759 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr20:39830759C>T uc002xjs.1 - 3 3176 c.2798G>A c.(2797-2799)CGT>CAT p.R933H ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Intron|ZHX3_uc002xjt.1_Missense_Mutation_p.R933H|ZHX3_uc002xju.1_Missense_Mutation_p.R933H|ZHX3_uc010ggg.1_Missense_Mutation_p.R933H NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 933 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CTCAGGGACACGGGGCTCCCA 0.602000 BCAS1 8537 broad.mit.edu 37 20 52674669 52674669 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr20:52674669C>A uc002xws.2 - 3 435 c.97G>T c.(97-99)GTT>TTT p.V33F BCAS1_uc002xwt.2_Missense_Mutation_p.V33F|BCAS1_uc010gil.1_Missense_Mutation_p.V33F|BCAS1_uc010zzc.1_Intron NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 33 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ACCACTGGAACCCCGTTCAGA 0.537000 MYH9 4627 broad.mit.edu 37 22 36696948 36696948 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr22:36696948C>A uc003apg.2 - 22 3018 c.2787G>T c.(2785-2787)GAG>GAT p.E929D MYH9_uc003aph.1_Missense_Mutation_p.E793D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 929 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GCTGGCAGCGCTCCTCCTCCT 0.667000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated NAGA 4668 broad.mit.edu 37 22 42458989 42458989 + Missense_Mutation SNP G G A rs138546784 TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr22:42458989G>A uc003bbx.2 - 8 936 c.799C>T c.(799-801)CGG>TGG p.R267W NAGA_uc003bby.2_Missense_Mutation_p.R267W|NAGA_uc003bbw.3_Missense_Mutation_p.R267W NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 267 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 ATCTGGGCCCGGGATTGCTCT 0.582000 DAG1 1605 broad.mit.edu 37 3 49568587 49568587 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:49568587C>T uc003cxc.3 + 3 1061 c.643C>T c.(643-645)CGG>TGG p.R215W NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 215 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCACAGGATGCGGAGCTTCTC 0.507000 LRTM1 57408 broad.mit.edu 37 3 54958847 54958847 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:54958847T>C uc003dhl.2 - 2 537 c.403A>G c.(403-405)AGC>GGC p.S135G CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 135 LRR 4.|Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) GGAAGGTGGCTTATGTTGTTT 0.473000 FLNB 2317 broad.mit.edu 37 3 58109299 58109299 + Nonsense_Mutation SNP C C G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:58109299C>G uc003djj.2 + 21 3771 c.3606C>G c.(3604-3606)TAC>TAG p.Y1202* FLNB_uc010hne.2_Nonsense_Mutation_p.Y1202*|FLNB_uc003djk.2_Nonsense_Mutation_p.Y1202*|FLNB_uc010hnf.2_Nonsense_Mutation_p.Y1202*|FLNB_uc003djl.2_Nonsense_Mutation_p.Y1033*|FLNB_uc003djm.2_Nonsense_Mutation_p.Y1033* NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1202 Interaction with FBLP1.|Filamin 10. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGGCATGTACACGTTGACCA 0.577000 OR5H14 403273 broad.mit.edu 37 3 97868494 97868494 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:97868494A>G uc003dsg.1 + 1 265 c.265A>G c.(265-267)AGT>GGT p.S89G NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTAGCTAAGAGTAAGATGAT 0.388000 AMOTL2 51421 broad.mit.edu 37 3 134080535 134080535 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:134080535G>A uc003eqf.2 - 6 1685 c.1568C>T c.(1567-1569)GCG>GTG p.A523V AMOTL2_uc003eqg.1_Missense_Mutation_p.A465V|AMOTL2_uc003eqh.1_Missense_Mutation_p.A465V|AMOTL2_uc003eqe.1_Missense_Mutation_p.A90V NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 465 Potential. large_intestine(1) 1 CCGGCCCTGCGCATTGCCCAG 0.682000 PLD1 5337 broad.mit.edu 37 3 171330103 171330103 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr3:171330103G>A uc003fhs.2 - 25 2964 c.2848C>T c.(2848-2850)CGG>TGG p.R950W PLD1_uc003fht.2_Missense_Mutation_p.R912W|PLD1_uc003fhu.3_Missense_Mutation_p.R244W NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 950 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CGGGCAAACCGGCCAGCTTGG 0.542000 GAK 2580 broad.mit.edu 37 4 861053 861053 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:861053C>T uc003gbm.3 - 21 2762 c.2563G>A c.(2563-2565)GGG>AGG p.G855R GAK_uc003gbn.3_Missense_Mutation_p.G776R|GAK_uc010ibk.1_Missense_Mutation_p.G749R|GAK_uc010ibi.2_Missense_Mutation_p.G36R|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.G719R NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 855 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) TGCACCAGCCCTGCTGCCAGG 0.662000 TADA2B 93624 broad.mit.edu 37 4 7056285 7056285 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:7056285G>A uc003gjw.3 + 2 918 c.767G>A c.(766-768)CGC>CAC p.R256H TADA2B_uc010idi.2_Missense_Mutation_p.R181H NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 AAGGAGCTGCGCCTGAAGCTG 0.522000 PCDH7 5099 broad.mit.edu 37 4 30724803 30724803 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:30724803G>A uc003gsk.1 + 1 2767 c.1759G>A c.(1759-1761)GAT>AAT p.D587N PCDH7_uc011bxw.1_Missense_Mutation_p.D540N|PCDH7_uc011bxx.1_Missense_Mutation_p.D587N NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 587 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CATCGATCCCGATTCTGGGGA 0.572000 GRXCR1 389207 broad.mit.edu 37 4 42895621 42895621 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:42895621T>C uc003gwt.2 + 1 338 c.338T>C c.(337-339)GTG>GCG p.V113A NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 113 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 AAATACAAAGTGAGTGCTGGC 0.428000 CXCL9 4283 broad.mit.edu 37 4 76925962 76925962 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:76925962C>A uc003hjh.1 - 3 315 c.276G>T c.(274-276)CAG>CAT p.Q92H NM_002416 NP_002407 Q07325 CXCL9_HUMAN small inducible cytokine B9 precursor 92 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTCACCAACCTGTTTCTCCC 0.328000 GRID2 2895 broad.mit.edu 37 4 94137982 94137982 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:94137982A>C uc011cdt.1 + 6 1141 c.883A>C c.(883-885)AGT>CGT p.S295R GRID2_uc010ikx.2_Missense_Mutation_p.S295R|GRID2_uc011cdu.1_Missense_Mutation_p.S200R|GRID2_uc010ikz.1_5'UTR NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 295 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CCAGAACATAAGTCAGCGGTG 0.403000 C4orf31 79625 broad.mit.edu 37 4 121961132 121961132 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:121961132T>A uc003idq.1 - 3 793 c.266A>T c.(265-267)AAG>ATG p.K89M NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 89 0 GAGGCTCAGCTTCCACTCCAA 0.512000 EDNRA 1909 broad.mit.edu 37 4 148407147 148407147 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:148407147T>G uc003iky.2 + 2 1006 c.314T>G c.(313-315)ATT>AGT p.I105S EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.I105S|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.I105S NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 105 Cytoplasmic (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CTCAGGATCATTTACCAGAAC 0.418000 DCHS2 54798 broad.mit.edu 37 4 155254538 155254538 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:155254538T>C uc003inw.2 - 9 1325 c.1325A>G c.(1324-1326)GAG>GGG p.E442G DCHS2_uc003inx.2_Missense_Mutation_p.E941G NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 442 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GGGCTGCGTCTCGTGATCCAG 0.587000 GLRB 2743 broad.mit.edu 37 4 158041808 158041808 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:158041808T>G uc003ipj.2 + 3 425 c.223T>G c.(223-225)TTC>GTC p.F75V NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 75 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AAGACCAAACTTCAAAGGTTT 0.343000 RAPGEF2 9693 broad.mit.edu 37 4 160251157 160251157 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:160251157A>T uc003iqg.3 + 6 1124 c.814A>T c.(814-816)ATC>TTC p.I272F NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 272 N-terminal Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ACACATTGTCATCAAGGTAGG 0.393000 WDR17 116966 broad.mit.edu 37 4 177052829 177052829 + Missense_Mutation SNP G G C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:177052829G>C uc003iuj.2 + 8 1266 c.1110G>C c.(1108-1110)TTG>TTC p.L370F WDR17_uc003iuk.2_Missense_Mutation_p.L346F|WDR17_uc003ium.3_Missense_Mutation_p.L346F|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 370 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) GTTGTTTCTTGGATGGTGGAG 0.383000 AGA 175 broad.mit.edu 37 4 178355641 178355641 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:178355641C>T uc003iuu.1 - 7 763 c.701G>A c.(700-702)CGT>CAT p.R234H AGA_uc010irt.1_RNA|AGA_uc003iuv.1_Missense_Mutation_p.V113M|AGA_uc003iuw.2_Intron NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 234 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GTCTCCTACACGGCTTTGAGA 0.478000 ING2 3622 broad.mit.edu 37 4 184431507 184431507 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr4:184431507T>C uc003ivs.1 + 2 374 c.245T>C c.(244-246)CTA>CCA p.L82P ING2_uc011ckk.1_Missense_Mutation_p.L42P NM_001564 NP_001555 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 82 Potential. chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding ovary(1) 1 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AAGAAACGTCTACAGCAGCTT 0.333000 PLEKHG4B 153478 broad.mit.edu 37 5 156286 156286 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:156286C>T uc003jak.2 + 8 1291 c.1241C>T c.(1240-1242)GCG>GTG p.A414V NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 414 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) ACCGTCCTGGCGCGGCTGAGG 0.617000 ADCY2 108 broad.mit.edu 37 5 7789859 7789859 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:7789859C>T uc003jdz.1 + 20 2641 c.2574C>T c.(2572-2574)AAC>AAT p.N858N ADCY2_uc011cmo.1_Silent_p.N678N|ADCY2_uc010itm.1_Silent_p.N54N NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 858 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 p.N858N(1) ovary(5)|pancreas(1)|skin(1) 7 TGCTGGAGAACGTGCTTCCCG 0.557000 ADCY2 108 broad.mit.edu 37 5 7820795 7820795 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:7820795A>G uc003jdz.1 + 24 3183 c.3116A>G c.(3115-3117)AAA>AGA p.K1039R ADCY2_uc011cmo.1_Missense_Mutation_p.K859R|ADCY2_uc010itm.1_Missense_Mutation_p.K235R NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1039 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 GTCCTGGACAAAATACAGGTA 0.443000 CTNND2 1501 broad.mit.edu 37 5 11022936 11022936 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:11022936G>A uc003jfa.1 - 17 3089 c.2944C>T c.(2944-2946)CGG>TGG p.R982W CTNND2_uc010itt.2_Missense_Mutation_p.R891W|CTNND2_uc011cmy.1_Missense_Mutation_p.R645W|CTNND2_uc011cmz.1_Missense_Mutation_p.R549W|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R574W NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 982 ARM 9. 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 CCGGCATCCCGTAAGGCCTTG 0.507000 JMY 133746 broad.mit.edu 37 5 78533384 78533384 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:78533384T>A uc003kfx.3 + 1 1431 c.911T>A c.(910-912)ATC>AAC p.I304N NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 304 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) GGCTGGAAGATCCTCTCCCAG 0.607000 VCAN 1462 broad.mit.edu 37 5 82836238 82836238 + Silent SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:82836238A>G uc003kii.3 + 8 7772 c.7416A>G c.(7414-7416)CCA>CCG p.P2472P VCAN_uc003kij.3_Silent_p.P1485P|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.P1136P NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2472 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGAGGTGCCAAGCGCTAAAG 0.468000 HAPLN1 1404 broad.mit.edu 37 5 82937440 82937440 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:82937440C>T uc003kim.2 - 4 1011 c.940G>A c.(940-942)GTC>ATC p.V314I HAPLN1_uc003kin.2_Missense_Mutation_p.V314I NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 314 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GGGTAGCGGACGCTGCCATCC 0.537000 SLCO4C1 353189 broad.mit.edu 37 5 101593707 101593707 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:101593707A>C uc003knm.2 - 7 1500 c.1213T>G c.(1213-1215)TTA>GTA p.L405V NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 405 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AATTTAGGTAAAAATGTAGCA 0.294000 CAMK4 814 broad.mit.edu 37 5 110712565 110712565 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:110712565T>G uc011cvj.1 + 5 410 c.311T>G c.(310-312)CTT>CGT p.L104R CAMK4_uc003kpf.2_Missense_Mutation_p.L104R|CAMK4_uc010jbv.2_Intron NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 104 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) TAGATAAAACTTAAAGAGATA 0.343000 MATR3 9782 broad.mit.edu 37 5 138658622 138658622 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:138658622G>A uc003ldu.2 + 15 2541 c.2114G>A c.(2113-2115)AGT>AAT p.S705N MATR3_uc010jfb.2_Missense_Mutation_p.S705N|MATR3_uc003ldt.2_Missense_Mutation_p.S367N|MATR3_uc003ldw.2_Missense_Mutation_p.S705N|MATR3_uc003ldx.2_Missense_Mutation_p.S705N|MATR3_uc010jfc.2_Missense_Mutation_p.S705N|MATR3_uc003ldy.2_Missense_Mutation_p.S382N|MATR3_uc011czb.1_Missense_Mutation_p.S417N|MATR3_uc003ldz.2_Missense_Mutation_p.S705N|MATR3_uc003lea.2_Missense_Mutation_p.S705N|MATR3_uc003leb.2_Missense_Mutation_p.S367N|MATR3_uc003lec.2_Missense_Mutation_p.S382N NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 705 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAAGATGGAAGTGCTTCAGCA 0.363000 PCDHA13 56136 broad.mit.edu 37 5 140263637 140263637 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:140263637G>A uc003lif.2 + 1 1784 c.1784G>A c.(1783-1785)CGC>CAC p.R595H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R595H|PCDHA13_uc003lid.2_Missense_Mutation_p.R595H NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 595 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAAGGTGCGCGCGGTGGAC 0.706000 PCDHB3 56132 broad.mit.edu 37 5 140480968 140480968 + Silent SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:140480968G>T uc003lio.2 + 1 735 c.735G>T c.(733-735)CCG>CCT p.P245P uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 245 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGCACAGCCGCTCTATGAGG 0.498000 PCDHB11 56125 broad.mit.edu 37 5 140579789 140579789 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:140579789G>A uc003liy.2 + 1 442 c.442G>A c.(442-444)GTT>ATT p.V148I PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 148 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAACAGTCCCGTTGGTGCTGT 0.398000 JAKMIP2 9832 broad.mit.edu 37 5 147016608 147016608 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:147016608G>T uc003loq.1 - 11 1916 c.1534C>A c.(1534-1536)CAA>AAA p.Q512K JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q470K|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q512K|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Q512K NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 512 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGTTCTTGAGCCTGGTGA 0.433000 RANBP17 64901 broad.mit.edu 37 5 170722912 170722912 + Missense_Mutation SNP A A C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:170722912A>C uc003mba.2 + 27 3080 c.3064A>C c.(3064-3066)AGT>CGT p.S1022R RANBP17_uc003mbb.2_Missense_Mutation_p.S347R|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 1022 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACTGAGAGCAAGTTTGATAAA 0.532000 T TRD@ ALL BTN1A1 696 broad.mit.edu 37 6 26508948 26508948 + Missense_Mutation SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr6:26508948G>T uc003nif.3 + 7 1147 c.1127G>T c.(1126-1128)AGG>ATG p.R376M NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 376 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GGCGTGTGTAGGGAGAATGTG 0.552000 RARS2 57038 broad.mit.edu 37 6 88224725 88224725 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr6:88224725C>T uc003pme.2 - 19 1660 c.1600G>A c.(1600-1602)GTG>ATG p.V534M RARS2_uc003pmb.2_Missense_Mutation_p.V359M|RARS2_uc003pmc.2_Missense_Mutation_p.V359M|RARS2_uc003pmd.2_Missense_Mutation_p.V146M|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 534 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) TTGTGTGCCACAGCTGCAAGA 0.393000 BEND3 57673 broad.mit.edu 37 6 107390253 107390253 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr6:107390253C>T uc003prs.2 - 5 2792 c.2142G>A c.(2140-2142)CCG>CCA p.P714P NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 714 ovary(3) 3 GAGAAGGCACCGGGAAGTCAG 0.647000 PLG 5340 broad.mit.edu 37 6 161143543 161143543 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr6:161143543T>C uc003qtm.3 + 10 1263 c.1200T>C c.(1198-1200)TCT>TCC p.S400S NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 400 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTGTCAGTCTTGGTCATCTA 0.517000 FOXK1 221937 broad.mit.edu 37 7 4800738 4800738 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:4800738G>A uc003snc.1 + 8 1750 c.1740G>A c.(1738-1740)GCG>GCA p.A580A FOXK1_uc003sna.1_Silent_p.A417A NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 580 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CAATCCCCGCGGCTGGTGGAG 0.652000 RNF216 54476 broad.mit.edu 37 7 5780920 5780920 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:5780920C>T uc003soy.1 - 4 747 c.557G>A c.(556-558)CGT>CAT p.R186H RNF216_uc010ksz.1_Translation_Start_Site|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.R243H NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 186 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TGTTATTTCACGGGGCTGTTG 0.512000 EIF2AK1 27102 broad.mit.edu 37 7 6082613 6082613 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:6082613C>T uc003spp.2 - 8 888 c.742G>A c.(742-744)GCC>ACC p.A248T EIF2AK1_uc003spq.2_Missense_Mutation_p.A247T|EIF2AK1_uc011jwm.1_Missense_Mutation_p.A124T|EIF2AK1_uc003spr.1_Missense_Mutation_p.A40T NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 248 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) AACTCAATGGCAGCTCTGTCT 0.408000 ZNF12 7559 broad.mit.edu 37 7 6731622 6731622 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:6731622T>G uc003sqt.1 - 5 1505 c.951A>C c.(949-951)AGA>AGC p.R317S ZNF12_uc011jxa.1_Missense_Mutation_p.R155S|ZNF12_uc003sqs.1_Missense_Mutation_p.R279S NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 317 C2H2-type 2. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CTGTGTGTGTTCTCTGATGCA 0.438000 ZPBP 11055 broad.mit.edu 37 7 50057879 50057879 + Missense_Mutation SNP C C A rs147255783 TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:50057879C>A uc003tou.2 - 6 810 c.740G>T c.(739-741)CGA>CTA p.R247L ZPBP_uc011kci.1_Missense_Mutation_p.R173L|ZPBP_uc010kyw.2_Missense_Mutation_p.R246L NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 247 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GTCTGTACATCGCTTGGGTCC 0.313000 NPTX2 4885 broad.mit.edu 37 7 98257796 98257796 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:98257796G>A uc003upl.2 + 5 1328 c.1151G>A c.(1150-1152)CGC>CAC p.R384H NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 384 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CGCGTCCTTCGCGCACAAGAA 0.567000 AGK 55750 broad.mit.edu 37 7 141336807 141336807 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:141336807G>A uc003vwi.2 + 11 887 c.716G>A c.(715-717)AGC>AAC p.S239N AGK_uc011krg.1_RNA NM_018238 NP_060708 Q53H12 AGK_HUMAN acylglycerol kinase precursor 239 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity ovary(1)|breast(1) 2 Melanoma(164;0.0171) CACTTTTTCAGCACTCTTAAG 0.318000 CSMD1 64478 broad.mit.edu 37 8 2832041 2832041 + Missense_Mutation SNP A A T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:2832041A>T uc011kwk.1 - 56 9065 c.8675T>A c.(8674-8676)CTC>CAC p.L2892H CSMD1_uc011kwj.1_Missense_Mutation_p.L2221H|CSMD1_uc010lrg.2_Missense_Mutation_p.L902H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2892 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGCCTATGAGGCTCTCGCT 0.602000 PREX2 80243 broad.mit.edu 37 8 68995528 68995528 + Silent SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:68995528T>A uc003xxv.1 + 18 1959 c.1932T>A c.(1930-1932)GTT>GTA p.V644V PREX2_uc003xxu.1_Silent_p.V644V|PREX2_uc011lez.1_Silent_p.V579V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 644 PDZ 1. 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 GTGACCTAGTTTTTATGAGAC 0.348000 C8orf34 116328 broad.mit.edu 37 8 69445301 69445301 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:69445301A>G uc010lyz.2 + 7 813 c.764A>G c.(763-765)GAT>GGT p.D255G C8orf34_uc010lyy.1_Missense_Mutation_p.D255G|C8orf34_uc003xyb.2_Missense_Mutation_p.D230G NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 255 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CTCTCTCAAGATTCTTTTGAG 0.368000 CRISPLD1 83690 broad.mit.edu 37 8 75937820 75937820 + Missense_Mutation SNP T T A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:75937820T>A uc003yan.2 + 13 1659 c.1284T>A c.(1282-1284)CAT>CAA p.H428Q CRISPLD1_uc011lfk.1_Missense_Mutation_p.H240Q|CRISPLD1_uc011lfl.1_Missense_Mutation_p.H240Q NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 428 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CAAATCCACATTATGCTCGTG 0.254000 RGS22 26166 broad.mit.edu 37 8 100999827 100999827 + Silent SNP G G T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:100999827G>T uc003yjb.1 - 21 3234 c.3039C>A c.(3037-3039)ATC>ATA p.I1013I RGS22_uc003yja.1_Silent_p.I832I|RGS22_uc003yjc.1_Silent_p.I1001I NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1013 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAGATGAAGAGATCCACTTAC 0.353000 DCAF13 25879 broad.mit.edu 37 8 104427572 104427572 + Silent SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:104427572T>C uc003yln.2 + 1 631 c.354T>C c.(352-354)ACT>ACC p.T118T SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 GTCACGTGACTGGAAGTAGTC 0.637000 CSMD3 114788 broad.mit.edu 37 8 113421186 113421186 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:113421186T>C uc003ynu.2 - 33 5630 c.5471A>G c.(5470-5472)CAA>CGA p.Q1824R CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1784R|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1720R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1824 Extracellular (Potential).|CUB 10. 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 CAGAGAAGATTGCTGAGTTGG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113599416 113599416 + Missense_Mutation SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr8:113599416G>A uc003ynu.2 - 23 3923 c.3764C>T c.(3763-3765)CCA>CTA p.P1255L CSMD3_uc003yns.2_Missense_Mutation_p.P527L|CSMD3_uc003ynt.2_Missense_Mutation_p.P1215L|CSMD3_uc011lhx.1_Missense_Mutation_p.P1151L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1255 Extracellular (Potential).|CUB 7. 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 TGGATAATTTGGAGACAGCAA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TLE4 7091 broad.mit.edu 37 9 82323081 82323081 + Silent SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr9:82323081C>A uc004ald.2 + 13 1909 c.1060C>A c.(1060-1062)CGA>AGA p.R354R TLE4_uc004alc.2_Silent_p.R329R|TLE4_uc010mpr.2_Silent_p.R208R|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.R297R|TLE4_uc010mps.2_Silent_p.R253R|TLE4_uc004alf.2_Silent_p.R268R NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CCCTACTCCACGAACTGATGC 0.443000 OR13F1 138805 broad.mit.edu 37 9 107267259 107267259 + Nonsense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr9:107267259C>A uc011lvm.1 + 1 716 c.716C>A c.(715-717)TCA>TAA p.S239* NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 AAAGCCTTTTCAACGTGCACA 0.478000 DBH 1621 broad.mit.edu 37 9 136507403 136507403 + Silent SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr9:136507403C>T uc004cel.2 + 3 570 c.561C>T c.(559-561)GGC>GGT p.G187G NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 187 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) ACGGCTCGGGCCTGCAGATGG 0.632000 KIAA0649 9858 broad.mit.edu 37 9 138378506 138378506 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr9:138378506C>T uc004cfr.1 + 4 2699 c.2150C>T c.(2149-2151)GCG>GTG p.A717V NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 717 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CCCAGGGCTGCGTGCAGGAAG 0.612000 ABCA2 20 broad.mit.edu 37 9 139911417 139911417 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr9:139911417C>T uc011mem.1 - 18 2858 c.2710G>A c.(2710-2712)GTG>ATG p.V904M ABCA2_uc011mel.1_Missense_Mutation_p.V905M|ABCA2_uc004ckl.1_Missense_Mutation_p.V835M|ABCA2_uc004ckm.1_Missense_Mutation_p.V935M|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 904 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCATAGACCACGGCGTCCACC 0.652000 ARSD 414 broad.mit.edu 37 X 2826865 2826866 + Missense_Mutation DNP GC GC AT TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:2826865_2826866GC>AT uc004cqy.2 - 9 1392_1393 c.1316_1317GC>AT c.(1315-1317)AGC>AAT p.S439N ARSD_uc004cqz.1_Intron NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 439 lysosome arylsulfatase activity|metal ion binding 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) AGGGTACCAGGCTGTGGCCATC 0.535000 DMD 1756 broad.mit.edu 37 X 31515045 31515045 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:31515045T>C uc004dda.1 - 57 8651 c.8407A>G c.(8407-8409)AGT>GGT p.S2803G DMD_uc004dcq.1_Missense_Mutation_p.S74G|DMD_uc004dcr.1_Missense_Mutation_p.S343G|DMD_uc004dcs.1_Missense_Mutation_p.S343G|DMD_uc004dct.1_Missense_Mutation_p.S343G|DMD_uc004dcu.1_Missense_Mutation_p.S343G|DMD_uc004dcv.1_Missense_Mutation_p.S343G|DMD_uc004dcw.2_Missense_Mutation_p.S1459G|DMD_uc004dcx.2_Missense_Mutation_p.S1462G|DMD_uc004dcz.2_Missense_Mutation_p.S2680G|DMD_uc004dcy.1_Missense_Mutation_p.S2799G|DMD_uc004ddb.1_Missense_Mutation_p.S2795G NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2803 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) TGGTCAGAACTGGCTTCCAAA 0.438000 FAM47A 158724 broad.mit.edu 37 X 34149532 34149532 + Silent SNP G G A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:34149532G>A uc004ddg.2 - 1 897 c.864C>T c.(862-864)GAC>GAT p.D288D NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 288 ovary(4)|central_nervous_system(1) 5 CTGTGGGTTCGTCAGTTGTCT 0.577000 ALAS2 212 broad.mit.edu 37 X 55052271 55052271 + Missense_Mutation SNP C C T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:55052271C>T uc004dua.3 - 2 301 c.163G>A c.(163-165)GCA>ACA p.A55T ALAS2_uc004dub.3_Missense_Mutation_p.A79T|ALAS2_uc004dud.3_Missense_Mutation_p.A55T NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 55 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) GCCTTTGTTGCCTTAAGGTGG 0.493000 RAB40A 142684 broad.mit.edu 37 X 102755054 102755054 + Missense_Mutation SNP T T C TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:102755054T>C uc004ekk.2 - 3 973 c.631A>G c.(631-633)AAG>GAG p.K211E NM_080879 NP_543155 Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 211 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 AGCGGGAGCTTGTCCACCAGA 0.587000 TRPC5 7224 broad.mit.edu 37 X 111155645 111155645 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:111155645T>G uc004epl.1 - 3 1693 c.774A>C c.(772-774)CAA>CAC p.Q258H TRPC5_uc004epm.1_Missense_Mutation_p.Q258H NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 258 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AGCTCCGAGCTTGGTCCAGCA 0.542000 SLITRK4 139065 broad.mit.edu 37 X 142716880 142716880 + Missense_Mutation SNP C C A TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:142716880C>A uc004fbx.2 - 2 2421 c.2045G>T c.(2044-2046)AGC>ATC p.S682I SLITRK4_uc004fby.2_Missense_Mutation_p.S682I NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 682 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGCTTCTGTGCTCAGTCCATC 0.473000 FMR1NB 158521 broad.mit.edu 37 X 147088343 147088343 + Missense_Mutation SNP T T G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:147088343T>G uc004fcm.2 + 3 593 c.519T>G c.(517-519)TGT>TGG p.C173W NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 173 P-type.|Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GCTTCAAATGTTTTGCTCCAT 0.348000 CNGA2 1260 broad.mit.edu 37 X 150912264 150912264 + Missense_Mutation SNP A A G TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chrX:150912264A>G uc004fey.1 + 7 1513 c.1289A>G c.(1288-1290)AAG>AGG p.K430R NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 430 Extracellular (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAAATTCTCAAGAATCTGCCA 0.498000 AKAP9 10142 broad.mit.edu 37 7 91570197 91570198 + Translation_Start_Site INS - - GGC TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:91570197_91570198insGGC uc003ulg.2 + 1 9_10 c.-216_-215insGGC c.(-218--213)GATGGC>GATGGCGGC AKAP9_uc003uld.3_Translation_Start_Site|AKAP9_uc003ule.2_Translation_Start_Site|AKAP9_uc003ulf.2_Translation_Start_Site NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 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) GAGACGAAGATggcggcggcgg 0.629 T BRAF papillary thyroid SLC9A3 6550 broad.mit.edu 37 5 483432 483432 + Frame_Shift_Del DEL C C - TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr5:483432delC uc003jbe.2 - 6 1210 c.1098delG c.(1096-1098)TGGfs p.W366fs SLC9A3_uc011clx.1_Frame_Shift_Del_p.W366fs NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 366 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGGCCGTGTTCCAGGTCCAGA 0.647 TRPV5 56302 broad.mit.edu 37 7 142630549 142630549 + Frame_Shift_Del DEL C C - rs149773774 byFrequency TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr7:142630548_142630548AC>A uc003wby.1 - 0 273 c.9_9GT>T c.(7-9)ggtfs p.G3fs TRPV5_uc003wbz.3_Frame_Shift_Del_p.G3fs NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA. 3 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) TAGGTAGAAAACCCCCCATGT 0.512 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-BR-8080-01A-11D-2340-08 TCGA-BR-8080-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e4058de-9986-4dfe-b5f8-2503d0346e2e b3aac2f9-d2de-4398-a22c-4b4a2509e824 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653