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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut DNAJC16 23341 broad.mit.edu 37 1 15890542 15890542 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:15890542G>T uc001aws.2 + 10 1577 c.1457G>T c.(1456-1458)CGT>CTT p.R486L DNAJC16_uc001awr.1_Missense_Mutation_p.R486L|DNAJC16_uc001awt.2_Missense_Mutation_p.R174L|DNAJC16_uc001awu.2_RNA NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 486 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GACCAGCTGCGTAAAGATCCA 0.542 NA 58 200 8.81991e-31 2.14429e-30 0.01441 1 0 TAS1R2 80834 broad.mit.edu 37 1 19168239 19168239 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:19168239G>A uc001bba.1 - 5 1576 c.1575C>T c.(1573-1575)TTC>TTT p.F525F NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 525 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTGGTTGAGGAAGGTGCCGG 0.448 NA 13 52 0 0 0.013537 0 0 STX12 23673 broad.mit.edu 37 1 28144412 28144412 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:28144412C>T uc001bou.3 + 7 752 c.627C>T c.(625-627)ATC>ATT p.I209I NM_177424 NP_803173 Q86Y82 STX12_HUMAN syntaxin 12 209 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) CCATGATGATCCATGACCAGG 0.284 Ovarian(5;5 342 2097 9488 34083) NA 10 45 0 0 0.013537 0 0 STX12 23673 broad.mit.edu 37 1 28144414 28144414 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:28144414A>C uc001bou.3 + 7 754 c.629A>C c.(628-630)CAT>CCT p.H210P NM_177424 NP_803173 Q86Y82 STX12_HUMAN syntaxin 12 210 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) ATGATGATCCATGACCAGGGT 0.279 Ovarian(5;5 342 2097 9488 34083) NA 9 45 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34092172 34092172 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:34092172A>T uc001bxn.1 - 33 5119 c.5090T>A c.(5089-5091)CTG>CAG p.L1697Q CSMD2_uc001bxm.1_Missense_Mutation_p.L1737Q|CSMD2_uc001bxo.1_Missense_Mutation_p.L610Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1697 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCCAAGGGCAGTGATTCTCC 0.557 NA 6 18 0 0 0.001984 0 0 GNL2 29889 broad.mit.edu 37 1 38059394 38059394 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:38059394G>A uc001cbk.2 - 2 281 c.118C>T c.(118-120)CGC>TGC p.R40C GNL2_uc010oif.1_5'UTR|GNL2_uc009vve.2_Missense_Mutation_p.R40C NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 40 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) ATATTCAGGCGCCGGATGGTG 0.512 NA 6 136 0 0 0.00308 0 0 USP33 23032 broad.mit.edu 37 1 78207102 78207102 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:78207102C>A uc001dht.2 - 4 534 c.187G>T c.(187-189)GAT>TAT p.D63Y USP33_uc001dhu.2_Missense_Mutation_p.D32Y|USP33_uc001dhv.2_5'UTR|USP33_uc001dhw.2_Missense_Mutation_p.D63Y NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 63 UBP-type. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 ACTTTACAATCCTGACAAGTA 0.303 Melanoma(152;72 1870 11110 26780 42647) NA 28 155 1.16021e-09 2.19611e-09 0.007291 1 0 AGL 178 broad.mit.edu 37 1 100343333 100343333 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:100343333C>T uc001dsi.1 + 12 1960 c.1560C>T c.(1558-1560)TTC>TTT p.F520F AGL_uc001dsj.1_Silent_p.F520F|AGL_uc001dsk.1_Silent_p.F520F|AGL_uc001dsl.1_Silent_p.F520F|AGL_uc001dsm.1_Silent_p.F504F|AGL_uc001dsn.1_Silent_p.F503F NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 520 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CAACTTATTTCCAGGGAGTAC 0.393 NA 16 67 0 0 0.006122 0 0 CCDC76 54482 broad.mit.edu 37 1 100614308 100614308 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:100614308G>T uc001dsv.2 + 11 1397 c.1378G>T c.(1378-1380)GTG>TTG p.V460L CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_3'UTR NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 460 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) AGACCCTCTGGTGTCTTTGGA 0.393 NA 7 45 8.12818e-05 0.000128212 0.001984 1 0 SYT6 148281 broad.mit.edu 37 1 114640500 114640500 + Splice_Site SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:114640500C>A uc001eev.2 - 6 1360 c.1110_splice c.e6-1 p.R370_splice SYT6_uc001eeu.2_Splice_Site_p.R15_splice NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGCCCACTCTGAGGGAGAA 0.577 NA 8 42 0.000442599 0.000681912 0.006214 1 0 VANGL1 81839 broad.mit.edu 37 1 116233804 116233804 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:116233804C>T uc001efv.1 + 8 1650 c.1379C>T c.(1378-1380)TCT>TTT p.S460F VANGL1_uc009wgy.1_Missense_Mutation_p.S458F NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 460 Cytoplasmic (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CGCTGGCTCTCTACACAGTGG 0.522 NA 15 38 0 0 0.00245 0 0 MAN1A2 10905 broad.mit.edu 37 1 118003128 118003128 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:118003128G>T uc001ehd.1 + 7 1689 c.968G>T c.(967-969)TGG>TTG p.W323L MAN1A2_uc009whg.1_Missense_Mutation_p.W113L NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 323 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) GGGCGAAACTGGGGCTGGGCA 0.423 Ovarian(33;199 881 8228 13687 31538) NA 32 94 9.65963e-10 1.85493e-09 0.003271 1 0 TXNIP 10628 broad.mit.edu 37 1 145438883 145438883 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:145438883G>T uc001enn.3 + 1 422 c.81G>T c.(79-81)GTG>GTT p.V27V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 27 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGAGAAGGTGGCTGGCCGGG 0.507 NA 60 65 1.14385e-22 2.73082e-22 0.01441 1 0 FLG2 388698 broad.mit.edu 37 1 152324797 152324797 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:152324797C>A uc001ezw.3 - 3 5538 c.5465G>T c.(5464-5466)CGA>CTA p.R1822L uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1822 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGTGTCCTCGTGAGTGTGG 0.522 NA 32 333 1.36615e-20 3.17569e-20 0.013726 1 0 LCE3E 353145 broad.mit.edu 37 1 152538635 152538635 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:152538635G>T uc001faa.2 - 2 106 c.50C>A c.(49-51)CCC>CAC p.P17H NM_178435 NP_848522 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 17 keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) CTTGGGTGAGGGGCACTTGGG 0.592 NA 12 114 2.27111e-07 3.85798e-07 0.013537 1 0 CHRNB2 1141 broad.mit.edu 37 1 154544242 154544242 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:154544242A>T uc001ffg.2 + 5 1207 c.943A>T c.(943-945)AGC>TGC p.S315C NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 315 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CATCGTCACCAGCGTGTGCGT 0.627 NA 29 38 0 0 0.008361 0 0 CADM3 57863 broad.mit.edu 37 1 159170598 159170598 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:159170598C>A uc001ftl.2 + 9 1225 c.1083C>A c.(1081-1083)ACC>ACA p.T361T CADM3_uc001ftk.2_Silent_p.T395T|uc001ftm.1_Intron NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 361 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) ACACAGGAACCTACCTGACAC 0.582 NA 35 61 1.26612e-14 2.72781e-14 0.003271 1 0 SLAMF8 56833 broad.mit.edu 37 1 159799681 159799681 + Silent SNP T T C rs141549313 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:159799681T>C uc001fue.3 + 2 276 c.66T>C c.(64-66)GGT>GGC p.G22G NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 22 integral to membrane 0 all_hematologic(112;0.0597) CAGTTACTGGTGCCCAAGTGC 0.587 NA 36 139 0 0 0.003755 0 0 ITLN1 55600 broad.mit.edu 37 1 160850401 160850401 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:160850401G>C uc001fxc.2 - 6 778 c.662C>G c.(661-663)TCT>TGT p.S221C NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 221 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGAGTAATAAGATGCTGTTTT 0.448 NA 65 257 0 0 0.01441 0 0 FMO4 2329 broad.mit.edu 37 1 171303751 171303751 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:171303751C>T uc001gho.2 + 8 1246 c.1029C>T c.(1027-1029)AGC>AGT p.S343S NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 343 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCTTAAAAGCCTCTGTACAA 0.383 Pancreas(24;816 862 7754 7993 32832) NA 12 121 0 0 0.010729 0 0 TNN 63923 broad.mit.edu 37 1 175092548 175092548 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:175092548C>A uc001gkl.1 + 12 2776 c.2663C>A c.(2662-2664)CCC>CAC p.P888H NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 888 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTGACGGCCCCAAAAACCTA 0.473 NA 29 62 3.73148e-12 7.37941e-12 0.007291 1 0 TNR 7143 broad.mit.edu 37 1 175375611 175375611 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:175375611G>T uc001gkp.1 - 1 321 c.240C>A c.(238-240)TCC>TCA p.S80S TNR_uc009wwu.1_Silent_p.S80S|TNR_uc010pmz.1_Silent_p.S80S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 80 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTAGCCCTGAGGAGCAGAGGT 0.562 NA 39 79 1.90571e-15 4.17366e-15 0.004289 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213415205 213415205 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:213415205G>T uc010ptr.1 + 11 2545 c.2386G>T c.(2386-2388)GAT>TAT p.D796Y RPS6KC1_uc001hkd.2_Missense_Mutation_p.D784Y|RPS6KC1_uc010pts.1_Missense_Mutation_p.D584Y|RPS6KC1_uc010ptt.1_Missense_Mutation_p.D584Y|RPS6KC1_uc010ptu.1_Missense_Mutation_p.D615Y|RPS6KC1_uc010ptv.1_Missense_Mutation_p.D331Y|RPS6KC1_uc001hke.2_Missense_Mutation_p.D615Y NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 796 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACCCAGCTCAGATCCTAAGTT 0.418 NA 54 79 4.88482e-21 1.15578e-20 0.01441 1 0 USH2A 7399 broad.mit.edu 37 1 215956216 215956216 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:215956216C>T uc001hku.1 - 53 10836 c.10449G>A c.(10447-10449)GGG>GGA p.G3483G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3483 Fibronectin type-III 19.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGTCCTCGCCCATAGCTGT 0.443 NA HNSCC(13;0.011) 8 68 0 0 0.004482 0 0 ESRRG 2104 broad.mit.edu 37 1 216850479 216850479 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:216850479C>A uc001hkw.1 - 2 577 c.411G>T c.(409-411)GGG>GGT p.G137G ESRRG_uc001hky.1_Silent_p.G114G|ESRRG_uc009xdp.1_Silent_p.G114G|ESRRG_uc001hkz.1_Silent_p.G114G|ESRRG_uc010puc.1_Silent_p.G114G|ESRRG_uc001hla.1_Silent_p.G114G|ESRRG_uc001hlb.1_Silent_p.G114G|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.G114G|ESRRG_uc001hld.1_Silent_p.G114G|ESRRG_uc001hkx.1_Silent_p.G142G|ESRRG_uc009xdo.1_Silent_p.G114G|ESRRG_uc001hle.1_Silent_p.G114G NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 137 Nuclear receptor.|NR C4-type. 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) CATAGTGGTACCCAGAAGCGA 0.498 NA 21 117 1.28384e-07 2.2092e-07 0.012319 1 0 RYR2 6262 broad.mit.edu 37 1 237880622 237880622 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:237880622C>A uc001hyl.1 + 72 10568 c.10448C>A c.(10447-10449)CCT>CAT p.P3483H RYR2_uc010pxz.1_Missense_Mutation_p.P438H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3483 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCTGTGCCCCTGGGGACCAG 0.498 NA 21 25 1.28384e-07 2.2092e-07 0.012319 1 0 C10orf114 399726 broad.mit.edu 37 10 21784774 21784774 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:21784774G>T uc001iqn.3 - 2 636 c.166C>A c.(166-168)CCG>ACG p.P56T NM_001010911 NP_001010911 Q5T4H9 CJ114_HUMAN hypothetical protein LOC399726 56 0 GAGGCGCCCGGCACCTGCAGG 0.786 NA OREG0020066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 5.18039e-06 8.52673e-06 0.00308 1 0 ARMC4 55130 broad.mit.edu 37 10 28233185 28233185 + Missense_Mutation SNP C C T rs140569195 byFrequency TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:28233185C>T uc009xky.2 - 12 1807 c.1709G>A c.(1708-1710)CGG>CAG p.R570Q ARMC4_uc010qds.1_Missense_Mutation_p.R95Q|ARMC4_uc010qdt.1_Missense_Mutation_p.R262Q|ARMC4_uc001itz.2_Missense_Mutation_p.R570Q|ARMC4_uc010qdu.1_Missense_Mutation_p.R262Q NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 570 binding ovary(4)|skin(2) 6 CCTCACCACCCGCCGTGCTCT 0.498 NA 12 36 0 0 0.013537 0 0 SVIL 6840 broad.mit.edu 37 10 29824951 29824951 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:29824951C>A uc001iut.1 - 7 1628 c.875G>T c.(874-876)GGG>GTG p.G292V SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.G292V NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 292 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AGGTGTGTCCCCTTCGGAATC 0.473 NA OREG0020098 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 57 9.65021e-13 1.98241e-12 0.010818 1 0 AGAP7 653268 broad.mit.edu 37 10 51465433 51465433 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:51465433G>T uc001jio.2 - 7 1149 c.1023C>A c.(1021-1023)TCC>TCA p.S341S PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 341 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CCATGTCCTTGGATAGGCCAT 0.567 NA 35 565 6.97489e-18 1.55323e-17 0.004878 1 0 USP54 159195 broad.mit.edu 37 10 75289936 75289936 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:75289936C>A uc001juo.2 - 12 1810 c.1793G>T c.(1792-1794)GGC>GTC p.G598V USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.G598V|USP54_uc010qkl.1_Missense_Mutation_p.G598V NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 598 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) CTGGGTATAGCCACAGTGCTT 0.398 Colon(195;880 2046 8854 25025 38456) NA 70 106 6.00099e-30 1.44569e-29 0.01441 1 0 MYST4 23522 broad.mit.edu 37 10 76790413 76790413 + Missense_Mutation SNP A A G rs143966521 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:76790413A>G uc001jwn.1 + 18 6324 c.5831A>G c.(5830-5832)TAT>TGT p.Y1944C MYST4_uc001jwo.1_Missense_Mutation_p.Y1652C|MYST4_uc001jwp.1_Missense_Mutation_p.Y1761C NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1944 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TCACAAATCTATGGGCGCTCC 0.552 NA T CREBBP AML 21 107 0 0 0.012319 0 0 POLR3A 11128 broad.mit.edu 37 10 79745855 79745855 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:79745855G>A uc001jzn.2 - 22 3058 c.2964C>T c.(2962-2964)GGC>GGT p.G988G NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 988 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TATCATTGATGCCATATTTAT 0.418 NA 52 112 0 0 0.01441 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057200 102057200 + Nonsense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:102057200G>A uc001kqx.1 - 5 1278 c.895C>T c.(895-897)CGA>TGA p.R299* PKD2L1_uc009xwm.1_Nonsense_Mutation_p.R252* NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 299 Extracellular (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AACACCACTCGAGTGCCCCTG 0.572 NA 15 74 0 0 0.006122 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609681 115609681 + Missense_Mutation SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:115609681T>C uc001law.2 - 2 2101 c.1183A>G c.(1183-1185)ACT>GCT p.T395A NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 395 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) TAAGGCAAAGTACTCTCATTA 0.393 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 7 75 0 0 0.001984 0 0 STK32C 282974 broad.mit.edu 37 10 134038741 134038741 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:134038741C>A uc001lle.1 - 7 1012 c.872G>T c.(871-873)GGA>GTA p.G291V STK32C_uc001lld.1_Missense_Mutation_p.G174V|STK32C_uc010quu.1_Missense_Mutation_p.G304V|STK32C_uc009ybc.1_Missense_Mutation_p.G174V|STK32C_uc009ybd.1_3'UTR|STK32C_uc001llb.2_Missense_Mutation_p.G62V|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 291 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCATACCCATCCTCGCAGCAG 0.667 NA 5 14 0.000602214 0.000922467 0.000602 1 0 NLRP6 171389 broad.mit.edu 37 11 280512 280512 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:280512C>A uc010qvs.1 + 4 778 c.778C>A c.(778-780)CGC>AGC p.R260S NLRP6_uc010qvt.1_Missense_Mutation_p.R260S NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 260 NACHT. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GTGCCCCGACCGCGGCGCGCC 0.751 NA 3 9 0.004672 0.00687822 0.004672 1 0 OR51B5 282763 broad.mit.edu 37 11 5363838 5363838 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:5363838G>T uc001map.1 - 1 917 c.917C>A c.(916-918)ACT>AAT p.T306N HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTATGGGTAGTAAAAAGGTG 0.368 NA 12 44 9.31168e-06 1.49551e-05 0.001855 1 0 CCKBR 887 broad.mit.edu 37 11 6292297 6292297 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:6292297A>T uc001mcp.2 + 5 1061 c.868A>T c.(868-870)AGC>TGC p.S290C CCKBR_uc001mcq.2_Missense_Mutation_p.S218C|CCKBR_uc001mcr.2_Missense_Mutation_p.S290C|CCKBR_uc001mcs.2_Missense_Mutation_p.S359C|CCKBR_uc001mct.1_RNA NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 290 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGCGAAGACAGCGATGGCTG 0.687 NA 13 65 0 0 0.004007 0 0 OR10A3 26496 broad.mit.edu 37 11 7960402 7960402 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:7960402C>A uc010rbi.1 - 1 666 c.666G>T c.(664-666)CTG>CTT p.L222L NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGATGGCAAACAGAACTCGAA 0.453 NA 8 40 0.00307968 0.00458492 0.00308 1 0 NLRP10 338322 broad.mit.edu 37 11 7981827 7981827 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:7981827G>T uc001mfv.1 - 2 1349 c.1332C>A c.(1330-1332)GCC>GCA p.A444A NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 444 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCAGGAAAGCGGCAAGCCTGG 0.488 NA 19 144 1.22574e-08 2.2248e-08 0.014323 1 0 GALNTL4 374378 broad.mit.edu 37 11 11362424 11362424 + Missense_Mutation SNP T T G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:11362424T>G uc001mjo.2 - 7 1641 c.1220A>C c.(1219-1221)GAA>GCA p.E407A NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 407 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CATCCAGACTTCAGCCACCCT 0.572 NA 32 192 0 0 0.008361 0 0 LOC440040 440040 broad.mit.edu 37 11 49805552 49805552 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:49805552G>A uc010rhy.1 + 3 1227 c.749G>A c.(748-750)GGC>GAC p.G250D LOC440040_uc009ymb.2_Missense_Mutation_p.G250D NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 TTCTGTGAGGGCATGACGGTG 0.517 NA 4 75 0 0 0.009096 0 0 OR4C46 119749 broad.mit.edu 37 11 51515432 51515433 + Missense_Mutation DNP CC CC AA TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:51515432_51515433CC>AA uc010ric.1 + 1 151_152 c.151_152CC>AA c.(151-153)CCA>AAA p.P51K NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 51 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CACTGCCAGCCCATCACTGGGG 0.45 NA 42 238 0 0 0.004672 0 0 MS4A6A 64231 broad.mit.edu 37 11 59949055 59949055 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:59949055C>A uc001nor.2 - 2 384 c.146G>T c.(145-147)GGG>GTG p.G49V MS4A6A_uc001noq.2_Missense_Mutation_p.G49V|MS4A6A_uc001nos.3_Missense_Mutation_p.G77V|MS4A6A_uc009ymv.2_Missense_Mutation_p.G49V|MS4A6A_uc001not.2_Missense_Mutation_p.G49V|MS4A6A_uc010rla.1_Missense_Mutation_p.G77V|MS4A6A_uc010rlb.1_Missense_Mutation_p.G49V NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 49 Helical; (Potential). integral to membrane receptor activity 0 TAGATTTACCCCAATAACTTT 0.478 NA 14 100 2.61681e-11 5.13671e-11 0.00245 1 0 LRP5 4041 broad.mit.edu 37 11 68191071 68191071 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:68191071A>G uc001ont.2 + 14 3217 c.3142A>G c.(3142-3144)ATC>GTC p.I1048V LRP5_uc009ysg.2_Missense_Mutation_p.I458V NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1048 LDL-receptor class B 17.|Beta-propeller 4.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CACCAATACCATCAACGTCCA 0.637 NA 12 104 0 0 0.013537 0 0 ODZ4 26011 broad.mit.edu 37 11 78433921 78433921 + Nonsense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:78433921G>A uc001ozl.3 - 24 4055 c.3592C>T c.(3592-3594)CAG>TAG p.Q1198* NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1198 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGAGGCTGCTGAGACACAAAC 0.562 NA 10 37 0 0 0.006214 0 0 ATM 472 broad.mit.edu 37 11 108123623 108123623 + Nonsense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:108123623C>T uc001pkb.1 + 12 2267 c.1882C>T c.(1882-1884)CAA>TAA p.Q628* ATM_uc009yxr.1_Nonsense_Mutation_p.Q628* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 628 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTTTTTCCAAAGCGTGCC 0.318 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 7 59 0 0 0.00308 0 0 ATM 472 broad.mit.edu 37 11 108205768 108205768 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:108205768G>T uc001pkb.1 + 55 8468 c.8083G>T c.(8083-8085)GGT>TGT p.G2695C ATM_uc009yxr.1_Missense_Mutation_p.G2695C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.G1347C NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2695 G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695A(2) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTAGCAGGAGGTGTAAATTT 0.398 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 31 58 3.00307e-07 5.06887e-07 0.008361 1 0 ZC3H12C 85463 broad.mit.edu 37 11 110035384 110035384 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:110035384C>T uc009yxw.2 + 6 1625 c.1574C>T c.(1573-1575)CCA>CTA p.P525L ZC3H12C_uc010rwc.1_Missense_Mutation_p.P526L|ZC3H12C_uc010rwd.1_Missense_Mutation_p.P526L|ZC3H12C_uc001pkr.3_Missense_Mutation_p.P494L NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 525 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GTTAGCATCCCAGCTACTTCT 0.448 NA 27 63 0 0 0.004656 0 0 LRTM2 654429 broad.mit.edu 37 12 1943635 1943635 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:1943635G>A uc001qjt.2 + 5 1667 c.861G>A c.(859-861)CCG>CCA p.P287P CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Silent_p.P287P|LRTM2_uc010sdx.1_Silent_p.P287P|LRTM2_uc001qjv.2_Silent_p.P49P NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 287 Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) AGCCGGAGCCGGAGCCCAGCA 0.677 NA 11 35 0 0 0.013537 0 0 ITFG2 55846 broad.mit.edu 37 12 2932973 2932973 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:2932973C>T uc001qlb.1 + 11 1168 c.1104C>T c.(1102-1104)TGC>TGT p.C368C ITFG2_uc010seb.1_Silent_p.C191C|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 368 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) ACAGCCCCTGCCTCGTATATG 0.552 NA 19 238 0 0 0.007413 0 0 CD163L1 283316 broad.mit.edu 37 12 7548699 7548699 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:7548699A>G uc001qsy.2 - 8 2068 c.2042T>C c.(2041-2043)ATC>ACC p.I681T CD163L1_uc010sge.1_Missense_Mutation_p.I691T NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 681 SRCR 6.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 ACCAGAACAGATCACTCCAAC 0.443 NA 4 44 0 0 0.001168 0 0 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 NA 4 6 0 0 0.009096 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 19 0.00448238 0.00663593 0.004482 1 0 OVCH1 341350 broad.mit.edu 37 12 29608259 29608259 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:29608259C>A uc001rix.1 - 20 2360 c.2360G>T c.(2359-2361)GGC>GTC p.G787V NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 787 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CTGGACACAGCCAGCTCCCCA 0.448 NA 27 78 2.12542e-12 4.26693e-12 0.00632 1 0 C12orf35 55196 broad.mit.edu 37 12 32135902 32135902 + Silent SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:32135902A>G uc001rks.2 + 4 2427 c.2013A>G c.(2011-2013)GAA>GAG p.E671E NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 671 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) GTTCCATGGAAGTGCTAGCAA 0.428 NA 10 37 0 0 0.013537 0 0 CCDC41 51134 broad.mit.edu 37 12 94806266 94806266 + Missense_Mutation SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:94806266T>C uc001tdd.2 - 3 587 c.1A>G c.(1-3)ATG>GTG p.M1V CCDC41_uc001tde.2_Missense_Mutation_p.M1V|CCDC41_uc009zsw.1_Intron|CCDC41_uc001tdf.2_Missense_Mutation_p.M1V NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen Error:Variant_position_missing_in_Q9Y592_after_alignment 0 CTGACAACCATGTAAAAATAA 0.393 NA 19 57 0 0 0.012319 0 0 CRY1 1407 broad.mit.edu 37 12 107391114 107391114 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:107391114C>T uc001tmi.3 - 10 2402 c.1543G>A c.(1543-1545)GGA>AGA p.G515R NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 515 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 GCAGAATATCCCATGAAGCCT 0.333 NA 18 276 0 0 0.012319 0 0 SELPLG 6404 broad.mit.edu 37 12 109017390 109017390 + Missense_Mutation SNP G G T rs113452057 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:109017390G>T uc001tni.2 - 2 854 c.694C>A c.(694-696)CAG>AAG p.Q232K SELPLG_uc001tnh.2_Missense_Mutation_p.Q222K|SELPLG_uc010sxe.1_Missense_Mutation_p.Q248K NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 232 12 X 10 AA tandem repeats.|Extracellular (Potential).|10. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 GCAGTGGTCTGTGCCTCCATG 0.617 NA 31 166 2.68265e-12 5.34513e-12 0.013726 1 0 FOXN4 121643 broad.mit.edu 37 12 109719546 109719546 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:109719546C>T uc001toe.3 - 9 1065 c.960G>A c.(958-960)CCG>CCA p.P320P FOXN4_uc009zvg.2_Silent_p.P117P|FOXN4_uc001tof.3_Silent_p.P140P NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 320 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 CTGGTTCCCCCGGTTTGCCGG 0.672 NA 4 25 0 0 0.009096 0 0 LCP1 3936 broad.mit.edu 37 13 46716467 46716467 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr13:46716467G>A uc001vaz.3 - 13 1588 c.1462C>T c.(1462-1464)CGC>TGC p.R488C LCP1_uc010ack.2_Missense_Mutation_p.R57C|LCP1_uc001vay.3_Missense_Mutation_p.R85C|LCP1_uc001vba.3_Missense_Mutation_p.R488C NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 488 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GTGAGAGTGCGGTTTCCTTCA 0.413 NA T BCL6 NHL 6 118 0 0 0.001168 0 0 RAB20 55647 broad.mit.edu 37 13 111176305 111176305 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr13:111176305C>A uc001vqy.2 - 2 617 c.412G>T c.(412-414)GGG>TGG p.G138W NM_017817 NP_060287 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 138 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) ACACGGTCCCCAGCGTCCATA 0.572 NA 8 44 0.000157383 0.000243898 0.00308 1 0 TEP1 7011 broad.mit.edu 37 14 20854332 20854332 + Nonsense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:20854332C>A uc001vxe.2 - 20 2924 c.2884G>T c.(2884-2886)GAG>TAG p.E962* TEP1_uc010ahk.2_Nonsense_Mutation_p.E312*|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.E854* NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 962 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTCTCCACCTCCCCAAGGCAC 0.552 NA 19 129 5.3912e-06 8.81895e-06 0.006122 1 0 OR10G2 26534 broad.mit.edu 37 14 22102089 22102089 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:22102089G>T uc010tmc.1 - 1 910 c.910C>A c.(910-912)CTG>ATG p.L304M NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) ATCCTCTTCAGGGCAGACTTC 0.473 NA 21 143 2.44723e-14 5.22997e-14 0.004656 1 0 FAM179B 23116 broad.mit.edu 37 14 45433416 45433416 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:45433416G>A uc001wvv.2 + 1 2001 c.1792G>A c.(1792-1794)GGG>AGG p.G598R FAM179B_uc001wvw.2_Missense_Mutation_p.G598R|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.G598R|FAM179B_uc001wvu.2_Missense_Mutation_p.G598R NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 598 binding skin(2)|upper_aerodigestive_tract(1) 3 ATCTTCTGCCGGGGGTAGGTC 0.512 NA 42 65 0 0 0.010771 0 0 SYT16 83851 broad.mit.edu 37 14 62567300 62567300 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:62567300G>T uc001xfu.1 + 6 2010 c.1813G>T c.(1813-1815)GAG>TAG p.E605* SYT16_uc010tse.1_Nonsense_Mutation_p.E163* NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 605 C2 2. central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GAAGCGTAAAGAGATGATTGG 0.488 NA 7 30 0.00307968 0.00458492 0.00308 1 0 PAPLN 89932 broad.mit.edu 37 14 73720461 73720461 + Splice_Site SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:73720461G>T uc010ttx.1 + 11 1258 c.1095_splice c.e11-1 p.R365_splice PAPLN_uc001xnw.3_Splice_Site_p.R338_splice|PAPLN_uc010arl.2_Splice_Site|PAPLN_uc010ttw.1_Splice_Site|PAPLN_uc010tty.1_Splice_Site_p.R365_splice NM_173462 NP_775733 O95428 PPN_HUMAN papilin proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCTCCTGCCAGCTGGAAGGCA 0.662 NA 13 41 0.00244969 0.00368846 0.00245 1 0 SLC24A4 123041 broad.mit.edu 37 14 92915520 92915520 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:92915520C>T uc001yak.2 + 10 813 c.789C>T c.(787-789)GAC>GAT p.D263D SLC24A4_uc001yai.2_Silent_p.D216D|SLC24A4_uc010twm.1_Intron|SLC24A4_uc001yaj.2_Intron|SLC24A4_uc010auj.2_Intron|SLC24A4_uc010twn.1_Silent_p.D36D|uc001yal.1_RNA NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 280 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ATTTCTATGACGGTAGCTATG 0.493 NSCLC(10;315 435 10383 28450 38798) NA 6 54 0 0 0.001984 0 0 BCL11B 64919 broad.mit.edu 37 14 99640726 99640726 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:99640726C>A uc001yga.2 - 4 2714 c.2447G>T c.(2446-2448)CGG>CTG p.R816L BCL11B_uc001ygb.2_Missense_Mutation_p.R745L NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 816 C2H2-type 4. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GGTGTGGCTCCGCCGGTGCAC 0.597 NA T TLX3 T-ALL 7 22 0.000157383 0.000243898 0.00308 1 0 C15orf2 23742 broad.mit.edu 37 15 24924482 24924482 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:24924482G>T uc001ywo.2 + 1 3942 c.3468G>T c.(3466-3468)CCG>CCT p.P1156P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1156 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCCAACTTCCGTAAGAGCACC 0.423 NA 7 51 5.18039e-06 8.52673e-06 0.00308 1 0 GABRA5 2558 broad.mit.edu 37 15 27160003 27160003 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:27160003C>A uc001zbd.1 + 8 890 c.551C>A c.(550-552)GCG>GAG p.A184E GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 184 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCGATGGATGCGCACGCTTGC 0.443 NA 12 59 9.31168e-06 1.49551e-05 0.001855 1 0 HERC2 8924 broad.mit.edu 37 15 28478865 28478865 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:28478865G>A uc001zbj.2 - 28 4402 c.4296C>T c.(4294-4296)CCC>CCT p.P1432P NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1432 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTCTTCCACGGGATGCTCGG 0.458 NA 13 71 0 0 0.00245 0 0 TJP1 7082 broad.mit.edu 37 15 30092877 30092877 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:30092877C>A uc001zcr.2 - 2 531 c.56G>T c.(55-57)TGG>TTG p.W19L TJP1_uc010azl.2_Missense_Mutation_p.W7L|TJP1_uc001zcq.2_Missense_Mutation_p.W23L|TJP1_uc001zcs.2_Missense_Mutation_p.W19L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 19 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATGTTGTTCCCATATAGCTGT 0.368 Melanoma(77;681 1843 6309 6570) NA 5 95 1.024e-07 1.79709e-07 0.000602 1 0 LPCAT4 254531 broad.mit.edu 37 15 34653713 34653713 + Missense_Mutation SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:34653713T>C uc001zig.2 - 11 1125 c.1031A>G c.(1030-1032)GAC>GGC p.D344G NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 344 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 TGCCCCAGCGTCCACATAGCC 0.577 NA 7 41 0 0 0.004482 0 0 WDR90 197335 broad.mit.edu 37 16 716792 716793 + Splice_Site DNP GG GG TT TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:716792_716793GG>TT uc002cii.1 + 39 5058 c.5004_splice c.e39+1 p.Q1668_splice WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Splice_Site|WDR90_uc002cin.1_Splice_Site_p.Q283_splice|WDR90_uc010uul.1_Splice_Site_p.Q219_splice|WDR90_uc002cio.1_Splice_Site_p.Q267_splice|WDR90_uc010bqx.1_Splice_Site_p.Q219_splice|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 ovary(1) 1 Hepatocellular(780;0.0218) GCCAGAAGCAGGTACACGCAGC 0.658 NA 24 54 0 0 0.004672 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818201 1818201 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:1818201C>A uc002cmk.2 + 30 3681 c.3561C>A c.(3559-3561)GCC>GCA p.A1187A MAPK8IP3_uc002cml.2_Silent_p.A1181A|MAPK8IP3_uc010uvl.1_Silent_p.A1188A NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1187 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 TCCCTGCAGCCAATAAGACAT 0.657 NA 5 95 0.00116845 0.00177953 0.001168 1 0 ABCC1 4363 broad.mit.edu 37 16 16218667 16218667 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:16218667G>T uc010bvi.2 + 25 3787 c.3612G>T c.(3610-3612)GAG>GAT p.E1204D ABCC1_uc010bvj.2_Missense_Mutation_p.E1145D|ABCC1_uc010bvk.2_Missense_Mutation_p.E1148D|ABCC1_uc010bvl.2_Missense_Mutation_p.E1204D|ABCC1_uc010bvm.2_Missense_Mutation_p.E1089D|ABCC1_uc002del.3_Missense_Mutation_p.E1098D NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1204 ABC transmembrane type-1 2.|Helical; Name=16. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGCGGCTGGAGTGTGTGGGCA 0.582 NA 20 52 4.96729e-08 8.83444e-08 0.008871 1 0 CD19 930 broad.mit.edu 37 16 28947911 28947911 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:28947911C>T uc002drs.2 + 7 1136 c.1074C>T c.(1072-1074)ACC>ACT p.T358T uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.T358T NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 358 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CCACACCCACCTCAGGCCTCG 0.652 NA 7 26 0 0 0.00308 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369710 77369710 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:77369710C>A uc002ffc.3 - 12 2221 c.1802G>T c.(1801-1803)TGT>TTT p.C601F ADAMTS18_uc010chc.1_Missense_Mutation_p.C189F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.C297F NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 601 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGTCCGGGAACATTCTGACCA 0.562 NA 88 138 4.64247e-43 1.18294e-42 0.01441 1 0 RABEP1 9135 broad.mit.edu 37 17 5235390 5235390 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:5235390G>T uc002gbm.3 + 3 534 c.310G>T c.(310-312)GAT>TAT p.D104Y RABEP1_uc010clc.1_Missense_Mutation_p.D104Y|RABEP1_uc010cld.1_Missense_Mutation_p.D61Y|RABEP1_uc010vsw.1_Missense_Mutation_p.D61Y|RABEP1_uc002gbl.3_Missense_Mutation_p.D104Y|RABEP1_uc002gbj.2_Missense_Mutation_p.D104Y|RABEP1_uc002gbk.2_Missense_Mutation_p.D104Y NM_004703 NP_004694 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 104 Potential. apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity large_intestine(1)|ovary(1) 2 AGAAGCTATAGATGAAGTGAA 0.418 NA 15 51 2.32078e-09 4.33104e-09 0.003163 1 0 DHRS7C 201140 broad.mit.edu 37 17 9694562 9694562 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:9694562G>A uc010vvb.1 - 1 40 c.40C>T c.(40-42)CTG>TTG p.L14L DHRS7C_uc010cof.2_Silent_p.L14L NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 14 extracellular region binding|oxidoreductase activity 0 CTGATTCCCAGCAGCAGCAGG 0.542 NA 5 9 0 0 0.001168 0 0 GLP2R 9340 broad.mit.edu 37 17 9792853 9792853 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:9792853A>G uc002gmd.1 + 13 1493 c.1493A>G c.(1492-1494)AAC>AGC p.N498S NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 498 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) CCCTCACTTAACAGTGGGCGG 0.622 NA 8 50 0 0 0.006214 0 0 GPR142 350383 broad.mit.edu 37 17 72368582 72368582 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:72368582T>A uc010wqy.1 + 4 1232 c.1232T>A c.(1231-1233)TTC>TAC p.F411Y GPR142_uc010wqx.1_Missense_Mutation_p.F323Y NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 411 Helical; Name=7; (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCAGCCAACTTCGGCCTCTAC 0.607 NA 23 61 0 0 0.003954 0 0 TMC6 11322 broad.mit.edu 37 17 76117707 76117707 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:76117707C>G uc002juj.1 - 10 1439 c.1313G>C c.(1312-1314)TGG>TCG p.W438S TMC6_uc002jui.1_Missense_Mutation_p.W77S|TMC6_uc010dhf.1_Missense_Mutation_p.W271S|TMC6_uc002juk.2_Missense_Mutation_p.W438S|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.W438S|TMC6_uc002jum.3_Missense_Mutation_p.W229S|TMC6_uc002jun.3_Missense_Mutation_p.W438S|TMC6_uc002juo.2_Missense_Mutation_p.W211S NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 438 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ACACAGCAGCCACACAAGCCC 0.721 NA Epidermodysplasia_Verruciformis_Familial_Clustering_of 3 16 0 0 0.001168 0 0 LAMA1 284217 broad.mit.edu 37 18 6959354 6959354 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr18:6959354C>A uc002knm.2 - 54 7858 c.7764G>T c.(7762-7764)TTG>TTT p.L2588F LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Missense_Mutation_p.L41F|LAMA1_uc010wzj.1_Missense_Mutation_p.L2064F NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2588 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTCCTGACCAAGGAGATGG 0.582 NA 20 90 8.10497e-08 1.43188e-07 0.010504 1 0 SERPINB12 89777 broad.mit.edu 37 18 61233938 61233938 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr18:61233938G>T uc010xen.1 + 7 912 c.912G>T c.(910-912)CTG>CTT p.L304L SERPINB12_uc010xeo.1_Silent_p.L324L NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 304 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 GGTTCACCCTGGAAGACAGCT 0.458 NA 77 179 4.03997e-35 9.91289e-35 0.01441 1 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:9577542C>T uc002mlp.1 - 10 2291 c.2081G>A c.(2080-2082)CGA>CAA p.R694Q ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CATGGAATTTCGAAAGGAATT 0.378 NA 39 153 0 0 0.00623 0 0 CACNA1A 773 broad.mit.edu 37 19 13339571 13339571 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:13339571C>T uc010dze.2 - 37 5806 c.5570G>A c.(5569-5571)CGA>CAA p.R1857Q CACNA1A_uc010xnd.1_Intron|CACNA1A_uc002mwx.3_Intron|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1382Q|CACNA1A_uc002mwy.3_Intron|CACNA1A_uc002mwv.3_Missense_Mutation_p.R373Q NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1857 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGATATTACTCGTAATAAACT 0.478 NA 18 30 0 0 0.00333 0 0 HCST 10870 broad.mit.edu 37 19 36393396 36393397 + Translation_Start_Site DNP GG GG CA TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:36393396_36393397GG>CA uc002ocl.1 + 1 15_16 c.-99_-98GG>CA c.(-101--96)AGGGTG>AGCATG NFKBID_uc002oci.1_5'Flank|NFKBID_uc002ocj.1_5'Flank|HCST_uc002ock.1_Translation_Start_Site NM_014266 NP_055081 Q9UBK5 HCST_HUMAN hematopoietic cell signal transducer isoform 1 regulation of immune response integral to membrane|plasma membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACACCAGCAGGGTGACATCCGC 0.381 NA 19 99 0 0 0.004672 0 0 GGN 199720 broad.mit.edu 37 19 38876275 38876275 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:38876275A>C uc002oij.1 - 3 1762 c.1627T>G c.(1627-1629)TTG>GTG p.L543V GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 543 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCTCCATGCAAGCCATCCTTA 0.542 NA 6 52 0 0 0.001984 0 0 RYR1 6261 broad.mit.edu 37 19 38976748 38976748 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:38976748C>G uc002oit.2 + 34 5583 c.5453C>G c.(5452-5454)GCG>GGG p.A1818G RYR1_uc002oiu.2_Missense_Mutation_p.A1818G NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1818 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGGGGGAGGCGGTGCGCGAC 0.706 NA 35 74 0 0 0.003755 0 0 CYP2S1 29785 broad.mit.edu 37 19 41703808 41703808 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:41703808G>T uc002opw.2 + 3 523 c.468G>T c.(466-468)CTG>CTT p.L156L CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 156 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 CCCGGTGTCTGGTGGAGACAT 0.632 NA 6 33 4.096e-09 7.59049e-09 0.001168 1 0 SHANK1 50944 broad.mit.edu 37 19 51215303 51215303 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:51215303C>T uc002psx.1 - 6 880 c.861G>A c.(859-861)ACG>ACA p.T287T NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 287 ANK 3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCACCATGGCCGTGTGGAACA 0.617 NA 5 56 0 0 0.000602 0 0 ZNF160 90338 broad.mit.edu 37 19 53572754 53572754 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:53572754C>G uc010eqk.2 - 7 1449 c.1033G>C c.(1033-1035)GAG>CAG p.E345Q ZNF160_uc002qaq.3_Missense_Mutation_p.E345Q|ZNF160_uc002qar.3_Missense_Mutation_p.E345Q NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 345 C2H2-type 4. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) TTTCCACACTCATTACACTTG 0.403 NA 9 75 0 0 0.004482 0 0 ZIM3 114026 broad.mit.edu 37 19 57647012 57647012 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57647012G>T uc002qnz.1 - 5 1079 c.693C>A c.(691-693)GCC>GCA p.A231A NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 231 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTGCTTGTAGGCATTTCCAC 0.408 NA 28 136 1.75199e-13 3.71421e-13 0.007291 1 0 ZNF547 284306 broad.mit.edu 37 19 57883173 57883174 + Missense_Mutation DNP GG GG TT TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57883173_57883174GG>TT uc002qol.2 + 3 241_242 c.48_49GG>TT c.(46-51)GTGGCC>GTTTCC p.A17S ZNF547_uc010ygx.1_Missense_Mutation_p.A17S NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGAAGACGTGGCCATATATTT 0.431 NA 35 226 0 0 0.004672 0 0 KIF3C 3797 broad.mit.edu 37 2 26151869 26151869 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:26151869G>T uc002rgu.2 - 8 3017 c.2360C>A c.(2359-2361)GCA>GAA p.A787E KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.A785E NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 787 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCCACTGTTGCAGGGCGCAG 0.622 NA 12 95 1.99824e-07 3.41634e-07 0.00499 1 0 THUMPD2 80745 broad.mit.edu 37 2 39988520 39988520 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:39988520C>A uc002rru.2 - 6 879 c.842G>T c.(841-843)GGA>GTA p.G281V THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.G172V|THUMPD2_uc010ynu.1_3'UTR NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 281 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) AGATCGCAGTCCAGCTGTCTT 0.363 NA 25 233 1.12875e-08 2.06289e-08 0.00632 1 0 CNGA3 1261 broad.mit.edu 37 2 99012411 99012411 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:99012411G>C uc002syt.2 + 8 1195 c.778G>C c.(778-780)GAC>CAC p.D260H CNGA3_uc002syu.2_Missense_Mutation_p.D242H|CNGA3_uc010fij.2_Missense_Mutation_p.D264H NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 260 D -> N (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GGTCCCCACCGACCTGGCTTA 0.517 NA 12 76 0 0 0.00245 0 0 TMEM177 80775 broad.mit.edu 37 2 120438630 120438630 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:120438630G>T uc010flg.1 + 2 674 c.201G>T c.(199-201)GAG>GAT p.E67D TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.E67D|TMEM177_uc002tmd.2_Missense_Mutation_p.E67D|TMEM177_uc010flh.2_Missense_Mutation_p.E67D NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 67 integral to membrane ovary(1) 1 Colorectal(110;0.196) TCTTCCAAGAGGTGCTACAGG 0.592 NA 65 150 1.34159e-35 3.32264e-35 0.01441 1 0 WDR33 55339 broad.mit.edu 37 2 128481960 128481960 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:128481960C>A uc002tpg.1 - 11 1326 c.1143G>T c.(1141-1143)CTG>CTT p.L381L NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 381 WD 7. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GATGCCAAGCCAGACTCCAGA 0.448 NA 13 87 1.5842e-08 2.85587e-08 0.001855 1 0 SLC4A10 57282 broad.mit.edu 37 2 162807357 162807357 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:162807357A>T uc002ubx.3 + 19 2724 c.2540A>T c.(2539-2541)AAG>ATG p.K847M SLC4A10_uc002uby.3_Missense_Mutation_p.K817M|SLC4A10_uc010zcs.1_Missense_Mutation_p.K828M NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 847 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CATAAGCTAAAGGTATATTTT 0.308 NA 6 13 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 167992572 167992573 + Splice_Site DNP GG GG TT TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:167992572_167992573GG>TT uc002udx.2 + 2 580 c.562_splice c.e2+1 p.A188_splice XIRP2_uc010fpn.2_Splice_Site_p.A188_splice|XIRP2_uc010fpo.2_Splice_Site_p.A188_splice|XIRP2_uc010fpp.2_Splice_Site_p.A188_splice|XIRP2_uc002udy.2_Splice_Site_p.A13_splice NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CATCTTTGAAGGTTAGCATAAC 0.366 NA 5 54 0 0 0.004672 0 0 DNAH7 56171 broad.mit.edu 37 2 196636407 196636407 + Missense_Mutation SNP C C A rs113133988 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:196636407C>A uc002utj.3 - 61 11511 c.11410G>T c.(11410-11412)GTA>TTA p.V3804L DNAH7_uc002uti.3_Missense_Mutation_p.V287L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3804 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TGAATATTTACGCACGAATCT 0.318 NA 21 138 1.10513e-12 2.25277e-12 0.014323 1 0 BOLL 66037 broad.mit.edu 37 2 198646540 198646541 + Missense_Mutation DNP GG GG TT TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:198646540_198646541GG>TT uc002uus.2 - 2 344_345 c.34_35CC>AA c.(34-36)CCT>AAT p.P12N BOLL_uc002uur.2_Missense_Mutation_p.P18N|BOLL_uc002uut.2_Missense_Mutation_p.P24N|BOLL_uc010zha.1_Translation_Start_Site|BOLL_uc002uuu.1_Missense_Mutation_p.P18N NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 12 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 AGGTGACACAGGATTAGGGGAT 0.396 NA 17 104 0 0 0.004672 0 0 SP100 6672 broad.mit.edu 37 2 231327148 231327148 + Splice_Site SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:231327148A>T uc002vqt.2 + 10 1115 c.974_splice c.e10-2 p.V325_splice SP100_uc002vqs.2_Splice_Site_p.V325_splice|SP100_uc002vqu.1_Splice_Site_p.V325_splice|SP100_uc010zmb.1_Splice_Site_p.V325_splice|SP100_uc002vqq.1_Splice_Site_p.V325_splice|SP100_uc002vqr.1_Splice_Site_p.V300_splice|SP100_uc010zmc.1_Splice_Site_p.V300_splice|SP100_uc002vqv.1_Splice_Site_p.V289_splice NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCCTTTGTGCAGTCATCAGCA 0.498 NA 16 51 0 0 0.00499 0 0 FRG1B 284802 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:29614328G>A uc010ztk.1 + 1 67 c.-6_splice c.e1+1 FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site RecName: Full=Protein FRG1B; 0 TGATACGTTGGTGAGTCAGTT 0.219 NA 5 59 0 0 0.000602 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356236 37356236 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:37356236G>T uc002xjc.2 + 2 795 c.532G>T c.(532-534)GAG>TAG p.E178* NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 178 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGAAGACGGCGAGGTGGTGCG 0.637 NA 7 37 1.06961e-07 1.86479e-07 0.00308 1 0 PLCG1 5335 broad.mit.edu 37 20 39788290 39788290 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:39788290C>T uc002xjp.1 + 2 383 c.262C>T c.(262-264)CGG>TGG p.R88W PLCG1_uc002xjo.1_Missense_Mutation_p.R88W NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 88 PH 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GAAGACCTCACGGGACTTTGA 0.512 NA 12 49 0 0 0.010729 0 0 PREX1 57580 broad.mit.edu 37 20 47296209 47296209 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:47296209G>C uc002xtw.1 - 12 1542 c.1519C>G c.(1519-1521)CTG>GTG p.L507V NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 507 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATGTCCTCCAGCTCACTTCGG 0.592 NA 25 70 0 0 0.007291 0 0 CYP24A1 1591 broad.mit.edu 37 20 52782307 52782307 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:52782307C>A uc002xwv.2 - 5 1104 c.706G>T c.(706-708)GTG>TTG p.V236L CYP24A1_uc002xwu.1_Missense_Mutation_p.V94L|CYP24A1_uc002xww.2_Missense_Mutation_p.V236L NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 236 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ATGAAGTTCACAGCTTCATCC 0.383 NA 25 63 5.61819e-17 1.24068e-16 0.005443 1 0 GATA5 140628 broad.mit.edu 37 20 61039900 61039900 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:61039900A>T uc002ycx.1 - 7 1248 c.1186T>A c.(1186-1188)TTG>ATG p.L396M NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN GATA binding protein 5 396 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) ACCTAGGCCAAGGCCAGCGCA 0.662 NA 8 50 0 0 0.006214 0 0 KCNQ2 3785 broad.mit.edu 37 20 62046267 62046267 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:62046267T>A uc002yey.1 - 13 1691 c.1514A>T c.(1513-1515)CAG>CTG p.Q505L KCNQ2_uc002yez.1_Missense_Mutation_p.Q475L|KCNQ2_uc002yfa.1_Missense_Mutation_p.Q487L|KCNQ2_uc002yfb.1_Missense_Mutation_p.Q477L NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 505 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TTCTGAGTTCTGCCGTGACGC 0.672 NA 35 64 0 0 0.00623 0 0 OR11H1 81061 broad.mit.edu 37 22 16449670 16449670 + Silent SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr22:16449670G>C uc011agd.1 - 1 135 c.135C>G c.(133-135)CTC>CTG p.L45L NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) TTGTAGTAAAGAGTGAGAAGA 0.428 NA 10 170 0 0 0.00499 0 0 SYNGR1 9145 broad.mit.edu 37 22 39770447 39770447 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr22:39770447G>T uc003axq.3 + 2 288 c.226G>T c.(226-228)GTG>TTG p.V76L SYNGR1_uc003axo.3_Missense_Mutation_p.V76L|SYNGR1_uc003axp.3_Silent_p.A6A|TAB1_uc003axr.2_5'UTR|SYNGR1_uc003axs.3_Missense_Mutation_p.V77L NM_004711 NP_004702 O43759 SNG1_HUMAN synaptogyrin 1 isoform 1a 76 Helical; (Potential).|MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity cell junction|integral to plasma membrane|melanosome 0 Melanoma(58;0.04) GGCCGTGGGCGTGCTCGCCTT 0.627 NA 8 56 0.000157383 0.000243898 0.00308 1 0 SETD5 55209 broad.mit.edu 37 3 9488802 9488802 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:9488802G>A uc003brt.2 + 14 2028 c.1593G>A c.(1591-1593)CGG>CGA p.R531R SETD5_uc003brs.1_Silent_p.R512R|SETD5_uc003bru.2_Silent_p.R433R|SETD5_uc003brv.2_Silent_p.R420R|SETD5_uc010hck.2_Silent_p.R13R|SETD5_uc003brx.2_Silent_p.R200R NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 531 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAAAGAAGCGGCGGGATCAGC 0.443 NA 37 37 0 0 0.003755 0 0 C3orf14 57415 broad.mit.edu 37 3 62317051 62317051 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:62317051C>T uc003dlf.2 + 5 373 c.229C>T c.(229-231)CGG>TGG p.R77W C3orf14_uc010hnq.2_Missense_Mutation_p.R77W|C3orf14_uc003dlg.2_Missense_Mutation_p.R77W NM_020685 NP_065736 Q9HBI5 CC014_HUMAN hypothetical protein LOC57415 77 central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) CCCACTTCCACGGCCTGAGGT 0.388 NA 30 142 0 0 0.003755 0 0 OR5K1 26339 broad.mit.edu 37 3 98188897 98188897 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:98188897T>A uc003dsm.2 + 1 477 c.477T>A c.(475-477)CAT>CAA p.H159Q NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 CCATGATTCATGTAGGGCTTG 0.423 NA 32 252 0 0 0.012213 0 0 GABRA2 2555 broad.mit.edu 37 4 46252550 46252550 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:46252550A>T uc003gxc.3 - 9 1804 c.1131T>A c.(1129-1131)AAT>AAA p.N377K GABRA2_uc010igc.2_Missense_Mutation_p.N377K|GABRA2_uc011bzc.1_Missense_Mutation_p.N382K NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 377 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTTGAAAGATTCGGGGCAT 0.408 NA 45 176 0 0 0.010771 0 0 ANKRD56 345079 broad.mit.edu 37 4 77817780 77817780 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:77817780C>A uc003hki.2 - 1 1223 c.1223G>T c.(1222-1224)AGC>ATC p.S408I NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 408 0 CCCACTGCTGCTCTCCTCACT 0.582 NA 18 75 4.96729e-08 8.83444e-08 0.008871 1 0 FRAS1 80144 broad.mit.edu 37 4 79360172 79360172 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:79360172C>T uc003hlb.2 + 40 5923 c.5483C>T c.(5482-5484)CCT>CTT p.P1828L FRAS1_uc003hkw.2_Missense_Mutation_p.P1828L|FRAS1_uc010ijj.1_Missense_Mutation_p.P248L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1827 CSPG 7.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATGATCACTCCTGCTGAAAAT 0.408 NA 49 241 0 0 0.01441 0 0 C4orf37 285555 broad.mit.edu 37 4 99055589 99055589 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:99055589G>A uc003htt.1 - 2 221 c.131C>T c.(130-132)TCT>TTT p.S44F NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 44 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) GGCAGTCAAAGAAAGAAATGG 0.353 NA 9 99 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 4 119434968 119434968 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:119434968G>C uc010imy.1 + 2 323 c.254G>C c.(253-255)GGA>GCA p.G85A CEP170L_uc003icb.2_5'Flank Homo sapiens cDNA, FLJ98257. NA GCAGTAAATGGAGAGACTCTC 0.413 NA 11 40 0 0 0.003163 0 0 C4orf27 54969 broad.mit.edu 37 4 170652978 170652978 + Missense_Mutation SNP C C A rs1047673 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:170652978C>A uc003isl.3 - 7 851 c.786G>T c.(784-786)GAG>GAT p.E262D NM_017867 NP_060337 Q9NWY4 CD027_HUMAN hypothetical protein LOC54969 262 nucleus ovary(1)|pancreas(1) 2 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) TTAGTCTCTCCTCATCACTTG 0.363 NA 5 61 0.00136819 0.00207184 0.013537 1 0 DNAH5 1767 broad.mit.edu 37 5 13721350 13721350 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:13721350C>G uc003jfd.2 - 71 12080 c.12038G>C c.(12037-12039)CGC>CCC p.R4013P DNAH5_uc003jfc.2_Missense_Mutation_p.R181P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4013 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GATGTACTTGCGGGCCTGCCA 0.333 NA Kartagener_syndrome 6 64 0 0 0.001168 0 0 SPEF2 79925 broad.mit.edu 37 5 35740120 35740120 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:35740120A>G uc003jjo.2 + 22 3274 c.3163A>G c.(3163-3165)ACT>GCT p.T1055A SPEF2_uc003jjp.1_Missense_Mutation_p.T541A NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1055 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGACCAGCATACTGTGCTTGC 0.333 NA 16 83 0 0 0.00499 0 0 C7 730 broad.mit.edu 37 5 40964946 40964946 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:40964946G>C uc003jmh.2 + 14 1967 c.1853G>C c.(1852-1854)CGG>CCG p.R618P C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 618 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GAAGATTTACGGTGGCTTGTT 0.393 NA 54 126 0 0 0.01441 0 0 GPX8 493869 broad.mit.edu 37 5 54456928 54456928 + Nonsense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:54456928T>A uc003jpq.2 + 2 348 c.311T>A c.(310-312)TTG>TAG p.L104* CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Nonsense_Mutation_p.L53* NM_001008397 NP_001008398 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 104 response to oxidative stress integral to membrane glutathione peroxidase activity 0 Glutathione(DB00143) TTCAGCGTGTTGGCTTTTCCC 0.473 NA 13 77 0 0 0.001855 0 0 SSBP2 23635 broad.mit.edu 37 5 80724479 80724479 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:80724479C>A uc003kho.2 - 16 1192 c.981G>T c.(979-981)CTG>CTT p.L327L RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Silent_p.L212L|SSBP2_uc003khn.2_Silent_p.L201L|SSBP2_uc003khp.2_Silent_p.L335L|SSBP2_uc011ctp.1_Silent_p.L307L|SSBP2_uc011ctq.1_Silent_p.L305L|SSBP2_uc011ctr.1_Intron NM_012446 NP_036578 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 327 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) haematopoietic_and_lymphoid_tissue(4)|skin(1) 5 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GTTGATTACTCAGGCTCATAT 0.368 NA 22 49 1.5548e-18 3.49171e-18 0.005443 1 0 TTC37 9652 broad.mit.edu 37 5 94865853 94865853 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:94865853A>C uc003klb.2 - 11 1102 c.832T>G c.(832-834)TTA>GTA p.L278V TTC37_uc010jbf.1_Missense_Mutation_p.L230V NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 278 TPR 3. binding ovary(3)|pancreas(1) 4 TTAATGCCTAAGCCAATGAGG 0.378 NA 20 47 0 0 0.010504 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476407 140476407 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:140476407C>A uc003lil.2 + 1 2171 c.2033C>A c.(2032-2034)GCG>GAG p.A678E PCDHB2_uc003lim.1_Missense_Mutation_p.A339E NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 678 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A678V(1) ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCGGAGGCGGCACCGGCC 0.682 NA 47 137 6.08268e-21 1.42647e-20 0.01441 1 0 PCDHB9 56127 broad.mit.edu 37 5 140568427 140568428 + Missense_Mutation DNP CC CC AA TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:140568427_140568428CC>AA uc003liw.1 + 3 1536_1537 c.1536_1537CC>AA c.(1534-1539)CACCTG>CAAATG p.512_513HL>QM NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 512_513 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAATGGCCACCTGTTTGCCCT 0.678 NA 24 188 0 0 0.004672 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725310 140725310 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:140725310C>T uc003ljm.1 + 1 1710 c.1710C>T c.(1708-1710)GAC>GAT p.D570D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.D330D|PCDHGA3_uc011dap.1_Silent_p.D570D NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 570 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.672 NA 28 176 0 0 0.008361 0 0 PDE6A 5145 broad.mit.edu 37 5 149286941 149286942 + Splice_Site DNP CC CC AG TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:149286941_149286942CC>AG uc003lrg.3 - 7 1119 c.999_splice c.e7-1 p.P333_splice NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GAGGTGGATTCCTGTGAAGGCC 0.5 NA 10 72 0 0 0.004672 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552041 178552041 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:178552041G>T uc003mjw.2 - 19 2891 c.2891C>A c.(2890-2892)CCC>CAC p.P964H NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 964 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCGGCTCTCGGGCCGGGCGTC 0.706 NA 28 72 8.88839e-20 2.04819e-19 0.010818 1 0 ATXN1 6310 broad.mit.edu 37 6 16327605 16327605 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:16327605G>A uc003nbt.2 - 8 1908 c.937C>T c.(937-939)CGG>TGG p.R313W ATXN1_uc010jpi.2_Missense_Mutation_p.R313W|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 313 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TGCTGCAGCCGGCTGCTCTCA 0.677 NA 16 77 0 0 0.006122 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271476 26271476 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:26271476G>T uc003nhi.2 - 1 137 c.137C>A c.(136-138)ACC>AAC p.T46N uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank NM_003534 NP_003525 P68431 H31_HUMAN H3 histone family, member H 46 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 CAGAGCCACGGTGCCGGGACG 0.637 NA 14 69 2.23348e-06 3.74603e-06 0.004007 1 0 HTR1E 3354 broad.mit.edu 37 6 87725649 87725649 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:87725649G>T uc003pli.2 + 2 1300 c.597G>T c.(595-597)CTG>CTT p.L199L NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 199 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTTTGATACTGATTCTCTATT 0.478 NA 6 38 3.59834e-05 5.74433e-05 0.001168 1 0 EPHA7 2045 broad.mit.edu 37 6 93956606 93956606 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:93956606C>A uc003poe.2 - 15 2871 c.2630G>T c.(2629-2631)CGT>CTT p.R877L EPHA7_uc003pof.2_Missense_Mutation_p.R872L|EPHA7_uc011eac.1_Missense_Mutation_p.R873L NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 877 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTTTCAGCACGCTCCTTTTG 0.423 NA 12 60 1.05317e-09 2.00784e-09 0.00245 1 0 PTPRK 5796 broad.mit.edu 37 6 128306976 128306976 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:128306976C>A uc003qbk.2 - 22 3505 c.3138G>T c.(3136-3138)ACG>ACT p.T1046T PTPRK_uc003qbj.2_Silent_p.T1047T|PTPRK_uc010kfc.2_Silent_p.T1053T|PTPRK_uc011ebu.1_Silent_p.T1069T NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1046 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CAGGCCAGCCCGTGAAATGGA 0.473 NA 13 53 4.93089e-13 1.02889e-12 0.00245 1 0 C6orf118 168090 broad.mit.edu 37 6 165715464 165715464 + Missense_Mutation SNP G G T rs150870882 byFrequency TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:165715464G>T uc003qum.3 - 2 383 c.347C>A c.(346-348)ACG>AAG p.T116K C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 116 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GACCAGGGCCGTGTGGATGGT 0.667 NA 12 72 9.31168e-06 1.49551e-05 0.001855 1 0 ZNF679 168417 broad.mit.edu 37 7 63720641 63720641 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:63720641G>T uc003tsx.2 + 3 351 c.82G>T c.(82-84)GAG>TAG p.E28* NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATTCTCTCTGGAGGAGTGGCA 0.398 NA 13 89 7.03913e-09 1.29539e-08 0.013537 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99758491 99758491 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:99758491G>A uc003utt.2 - 3 1538 c.521C>T c.(520-522)TCC>TTC p.S174F C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.S174F|GAL3ST4_uc010lgq.2_Missense_Mutation_p.S112F NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 174 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGATGAGGTGGATTTATAGTA 0.572 NA 9 65 0 0 0.006214 0 0 LRRN3 54674 broad.mit.edu 37 7 110764827 110764827 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:110764827C>G uc003vft.3 + 4 3045 c.1999C>G c.(1999-2001)CAG>GAG p.Q667E IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.Q667E|LRRN3_uc003vfs.3_Missense_Mutation_p.Q667E NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 667 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GAATTACTTACAGAAACCAAC 0.418 NA 25 94 0 0 0.007291 0 0 PLXNA4 91584 broad.mit.edu 37 7 131859563 131859563 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:131859563C>A uc003vra.3 - 21 4220 c.3991G>T c.(3991-3993)GAC>TAC p.D1331Y NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1331 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ACAGGGTGGTCTTCAATTCCT 0.433 NA 34 64 1.04352e-10 2.03332e-10 0.003755 1 0 SSPO 23145 broad.mit.edu 37 7 149503133 149503133 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:149503133G>T uc010lpk.2 + 59 8637 c.8637G>T c.(8635-8637)ACG>ACT p.T2879T NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2879 TSP type-1 8. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGCAACACGCAGCCCTGCA 0.637 NA 7 42 8.12818e-05 0.000128212 0.001984 1 0 POLR3D 661 broad.mit.edu 37 8 22105494 22105494 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr8:22105494G>T uc003xbl.2 + 4 417 c.334G>T c.(334-336)GGC>TGC p.G112C uc011kzd.1_5'Flank|MIR320A_hsa-mir-320a|MI0000542_5'Flank|POLR3D_uc003xbm.2_Missense_Mutation_p.G112C|POLR3D_uc011kze.1_RNA NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 112 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTTTGAGCAGGGCCCAGCTGA 0.522 NA 24 38 1.85244e-09 3.48154e-09 0.00333 1 0 POTEA 340441 broad.mit.edu 37 8 43171053 43171053 + Silent SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr8:43171053A>T uc003xpz.1 + 7 967 c.924A>T c.(922-924)ACA>ACT p.T308T POTEA_uc003xqa.1_Silent_p.T262T NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 308 ovary(1) 1 TAAAGCTGACATCAGAGGAAG 0.279 NA 30 62 0 0 0.003271 0 0 ANXA2P2 304 broad.mit.edu 37 9 33624919 33624919 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:33624919C>G uc010mjx.2 + 1 697 c.648C>G c.(646-648)ATC>ATG p.I216M NM_004039 NP_004030 annexin A2 isoform 2 0 GGATCAGCATCATGACCGAGC 0.468 NA 8 44 0 0 0.004482 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702806 40702806 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:40702806C>A uc010mmj.2 + 4 492 c.463C>A c.(463-465)CCG>ACG p.P155T NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 155 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTTAGCTTCCCCGGATCCTCA 0.602 NA 53 373 2.41709e-19 5.4746e-19 0.01441 1 0 ZNF462 58499 broad.mit.edu 37 9 109701363 109701363 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:109701363G>T uc004bcz.2 + 7 6691 c.6402G>T c.(6400-6402)CCG>CCT p.P2134P ZNF462_uc010mto.2_Silent_p.P2043P|ZNF462_uc004bda.2_Silent_p.P2042P|ZNF462_uc011lvz.1_Silent_p.P91P|ZNF462_uc004bdb.1_Silent_p.P42P NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2134 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AAGCTACCCCGGCTGAAGAAG 0.532 NA 20 116 2.37509e-13 4.99523e-13 0.010504 1 0 ODF2 4957 broad.mit.edu 37 9 131231471 131231471 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:131231471C>T uc011mbd.1 + 5 570 c.259C>T c.(259-261)CAT>TAT p.H87Y ODF2_uc011maz.1_Missense_Mutation_p.H87Y|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Missense_Mutation_p.H63Y|ODF2_uc011mbb.1_Missense_Mutation_p.H21Y|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Missense_Mutation_p.H40Y|ODF2_uc004bvb.2_Missense_Mutation_p.H63Y|ODF2_uc011mbe.1_Missense_Mutation_p.H82Y|ODF2_uc004bvc.2_Missense_Mutation_p.H63Y|ODF2_uc010myc.2_Intron|ODF2_uc011mbf.1_Missense_Mutation_p.H68Y|ODF2_uc004bvd.3_Missense_Mutation_p.H87Y|ODF2_uc004bve.2_Missense_Mutation_p.H68Y NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 87 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GAATCCACCTCATTGCCTGGA 0.473 NA 21 96 0 0 0.014323 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713008 138713008 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:138713008C>A uc004cgr.3 - 11 3499 c.3499G>T c.(3499-3501)GAC>TAC p.D1167Y CAMSAP1_uc004cgq.3_Missense_Mutation_p.D1057Y|CAMSAP1_uc010nbg.2_Missense_Mutation_p.D889Y NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1167 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CTGTAACTGTCGAAGAGACAC 0.567 NA 17 118 1.56452e-12 3.16488e-12 0.007413 1 0 ZNF630 57232 broad.mit.edu 37 X 47918714 47918714 + Missense_Mutation SNP T T G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:47918714T>G uc004div.3 - 5 1369 c.1117A>C c.(1117-1119)AAG>CAG p.K373Q ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K249Q NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TCAAAGGGCTTCTCTCTGGTA 0.418 NA 28 19 0 0 0.009535 0 0 TEX13A 56157 broad.mit.edu 37 X 104463895 104463895 + Silent SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:104463895T>A uc004ema.2 - 5 1093 c.981A>T c.(979-981)CCA>CCT p.P327P IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q328L NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 327 intracellular zinc ion binding ovary(2) 2 GAGGCGGAACTGGTGCTGTGA 0.542 NA 21 22 0 0 0.014323 0 0 ENOX2 10495 broad.mit.edu 37 X 129759305 129759305 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:129759305C>A uc004evw.2 - 16 2234 c.1816G>T c.(1816-1818)GGC>TGC p.G606C ENOX2_uc004evx.2_Missense_Mutation_p.G577C|ENOX2_uc004evy.2_Missense_Mutation_p.G577C|ENOX2_uc004evv.2_Missense_Mutation_p.G431C NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 606 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 AGCTTCAAGCCCTCGAAGCCA 0.423 Ovarian(101;828 1506 2951 9500 35258) NA 44 60 3.73646e-36 9.34114e-36 0.01441 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905997 144905997 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:144905997A>T uc004fcd.2 + 5 3044 c.2054A>T c.(2053-2055)TAC>TTC p.Y685F SLITRK2_uc010nsp.2_Missense_Mutation_p.Y685F|SLITRK2_uc010nso.2_Missense_Mutation_p.Y685F|SLITRK2_uc011mwq.1_Missense_Mutation_p.Y685F|SLITRK2_uc011mwr.1_Missense_Mutation_p.Y685F|SLITRK2_uc011mws.1_Missense_Mutation_p.Y685F|SLITRK2_uc004fcg.2_Missense_Mutation_p.Y685F|SLITRK2_uc011mwt.1_Missense_Mutation_p.Y685F|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 685 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGCCATGTCTACAACTATATC 0.473 NA 38 41 0 0 0.006999 0 0 SSR4 6748 broad.mit.edu 37 X 153060161 153060161 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:153060161C>G uc004fiw.2 + 1 68 c.19C>G c.(19-21)CTC>GTC p.L7V IDH3G_uc004fio.2_5'Flank|IDH3G_uc004fip.2_5'Flank|IDH3G_uc004fiq.2_5'Flank|IDH3G_uc010num.2_5'Flank|IDH3G_uc004fir.2_5'Flank|IDH3G_uc004fit.1_5'Flank|IDH3G_uc004fis.2_5'Flank|SSR4_uc004fiv.2_Missense_Mutation_p.L18V NM_006280 NP_006271 P51571 SSRD_HUMAN signal sequence receptor, delta precursor 7 intracellular protein transport integral to membrane|Sec61 translocon complex calcium ion binding|protein binding 0 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGCATCTCTCGGCGCCCT 0.637 NA 18 14 0 0 0.007413 0 0 MST1P9 11223 broad.mit.edu 37 1 17086085 17086086 + Frame_Shift_Ins INS - - C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:17086085_17086086insC uc010ock.1 - 7 811_812 c.811_812insG c.(811-813)GCGfs p.A271fs CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 GGCAAGGTACGCCGCGGTGGTG 0.649 NA 3 5 --- --- --- --- NA NA NA NA NA SMARCD1 6602 broad.mit.edu 37 12 50479213 50479213 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:50479213delG uc001rvx.3 + 1 231 c.61delG c.(61-63)GGGfs p.G21fs SMARCD1_uc010smo.1_Frame_Shift_Del_p.G21fs|SMARCD1_uc001rvy.3_Frame_Shift_Del_p.G21fs|SMARCD1_uc009zlp.2_Frame_Shift_Del_p.G21fs NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN SWI/SNF-related matrix-associated 21 chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity ovary(1) 1 AGCCTCAGGAGGGGCGGGCGC 0.736 NA 2 4 --- --- --- --- NA NA NA NA NA FBN1 2200 broad.mit.edu 37 15 48757810 48757811 + In_Frame_Ins INS - - GCG TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:48757810_48757811insGCG uc001zwx.1 - 40 5224_5225 c.4896_4897insCGC c.(4894-4899)insCGC p.1632_1633insR FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1632_1633 EGF-like 27; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCGGTTGGACAGCGGCACTGGA 0.46 NA 7 120 --- --- --- --- NA NA NA NA NA ABCC11 85320 broad.mit.edu 37 16 48244967 48244967 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:48244967delG uc002eff.1 - 10 1850 c.1500delC c.(1498-1500)AACfs p.N500fs ABCC11_uc002efg.1_Frame_Shift_Del_p.N500fs|ABCC11_uc002efh.1_Frame_Shift_Del_p.N500fs|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 500 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AAGCATGCCCGTTCCTCTCCA 0.592 NA Cerumen_Type 16 60 --- --- --- --- NA NA NA NA NA TMEM149 79713 broad.mit.edu 37 19 36231408 36231408 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:36231408delG uc002obc.2 - 3 316 c.215delC c.(214-216)CCGfs p.P72fs TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Frame_Shift_Del_p.P72fs|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Frame_Shift_Del_p.P152fs NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 72 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTTTCGGAACGGGGGCGTTAC 0.672 NA 7 53 --- --- --- --- NA NA NA NA NA PEG3 5178 broad.mit.edu 37 19 57327542 57327542 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57327542delG uc002qnu.2 - 7 2619 c.2268delC c.(2266-2268)CCCfs p.P756fs ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.P727fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.P756fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.P632fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.P630fs|PEG3_uc010etr.2_Frame_Shift_Del_p.P756fs NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 756 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTTTTCATAGGGGTTAGAGC 0.408 NA 37 203 --- --- --- --- NA NA NA NA NA HOXA5 3202 broad.mit.edu 37 7 27182704 27182704 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:27182704delG uc003syn.1 - 1 584 c.523delC c.(523-525)CAGfs p.Q175fs NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 175 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGTAGATCTGGGGTTGGGCG 0.692 Colon(119;75 2200 7557 42868) NA 36 278 --- --- --- --- NA NA NA NA NA MID1IP1 58526 broad.mit.edu 37 X 38664680 38664681 + Frame_Shift_Del DEL CT CT - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:38664680_38664681delCT uc004dei.3 + 3 905_906 c.481_482delCT c.(481-483)CTCfs p.L161fs MID1IP1_uc010ngz.2_Frame_Shift_Del_p.L161fs|MID1IP1_uc004dej.3_Frame_Shift_Del_p.L161fs NM_001098790 NP_001092260 Q9NPA3 M1IP1_HUMAN MID1 interacting G12-like protein 161 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus 0 GCTCTCGAAACTCACGCGCAAA 0.624 NA 7 10 --- --- --- --- NA NA NA NA NA