Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values CA6 765 broad.mit.edu 37 1 9009453 9009453 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:9009453T>A uc001apm.2 + 2 235 c.211T>A c.(211-213)TAT>AAT p.Y71N CA6_uc009vmn.2_Intron NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 71 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) TATGACAGGCTATGAGACCCA 0.607000 PADI3 51702 broad.mit.edu 37 1 17601163 17601163 + Missense_Mutation SNP C C T rs139324096 by1000genomes TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:17601163C>T uc001bai.2 + 11 1229 c.1189C>T c.(1189-1191)CGC>TGC p.R397C NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 397 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCGGGAACCACGCGACAGGTC 0.602000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HSPG2 3339 broad.mit.edu 37 1 22178378 22178378 + Silent SNP G G A rs145299929 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:22178378G>A uc001bfj.2 - 54 6952 c.6912C>T c.(6910-6912)GCC>GCT p.A2304A HSPG2_uc009vqd.2_Silent_p.A2305A NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2304 Ig-like C2-type 8. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCCCGCATCGGCAGGTGAGG 0.657000 MAN1C1 57134 broad.mit.edu 37 1 26104716 26104716 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:26104716G>A uc001bkm.2 + 9 1708 c.1378G>A c.(1378-1380)GCC>ACC p.A460T MAN1C1_uc009vry.1_Missense_Mutation_p.A280T|MAN1C1_uc001bkn.2_5'Flank NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 460 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GGGCATGATCGCCCTTGGCGC 0.627000 ARID1A 8289 broad.mit.edu 37 1 27101054 27101054 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:27101054C>T uc001bmv.1 + 18 4709 c.4336C>T c.(4336-4338)CGA>TGA p.R1446* ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1445*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R1063*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R292*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1446 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TACTGAGCGCCGACCAGCAGG 0.587000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC KIAA0754 643314 broad.mit.edu 37 1 39876123 39876123 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:39876123G>A uc009vvt.1 + 1 948 c.186G>A c.(184-186)ATG>ATA p.M62I MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 Error:Variant_position_missing_in_O94854_after_alignment 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAAGCACCATGGAAAAGATGG 0.408000 TGFBR3 7049 broad.mit.edu 37 1 92184966 92184966 + Missense_Mutation SNP T T G rs138396794 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:92184966T>G uc001doh.2 - 10 1935 c.1469A>C c.(1468-1470)AAG>ACG p.K490T TGFBR3_uc009wde.2_Missense_Mutation_p.K267T|TGFBR3_uc010osy.1_Missense_Mutation_p.K448T|TGFBR3_uc001doi.2_Missense_Mutation_p.K489T|TGFBR3_uc001doj.2_Missense_Mutation_p.K489T NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 490 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GCCATTCATCTTGGCCTTGCA 0.552000 PALMD 54873 broad.mit.edu 37 1 100152261 100152261 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:100152261A>C uc001dsg.2 + 4 724 c.281A>C c.(280-282)AAA>ACA p.K94T PALMD_uc001dsf.2_Missense_Mutation_p.K94T NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 94 Potential. regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GATCTTGAAAAAGCTGAACTG 0.368000 FRRS1 391059 broad.mit.edu 37 1 100203814 100203814 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:100203814G>A uc001dsh.1 - 7 1189 c.587C>T c.(586-588)TCA>TTA p.S196L NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN stromal cell derived factor receptor 2 homolog 196 electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding skin(1) 1 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CCCACAATCTGAGGCACTGAA 0.403000 CDC14A 8556 broad.mit.edu 37 1 100949859 100949859 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:100949859C>T uc001dtg.3 + 11 1477 c.989C>T c.(988-990)TCG>TTG p.S330L CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.S272L|CDC14A_uc001dte.3_Missense_Mutation_p.S330L|CDC14A_uc001dtf.2_Missense_Mutation_p.S330L|CDC14A_uc009wed.1_Missense_Mutation_p.S37L|CDC14A_uc009wee.2_Missense_Mutation_p.S330L NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 330 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AAACAAGCATCGTTGTGGGTC 0.308000 TBX15 6913 broad.mit.edu 37 1 119428075 119428075 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:119428075A>G uc001ehl.1 - 8 1086 c.771T>C c.(769-771)TCT>TCC p.S257S TBX15_uc009whj.1_Silent_p.S81S NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 363 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) ATAAAAGATGAGAAGAAGCCG 0.488000 DUSP27 92235 broad.mit.edu 37 1 167095276 167095276 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:167095276G>A uc001geb.1 + 5 908 c.908G>A c.(907-909)AGC>AAC p.S303N NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 303 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GGCACTGGGAGCATGCTCGGG 0.662000 ADCY10 55811 broad.mit.edu 37 1 167805735 167805735 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:167805735C>T uc001ger.2 - 23 3419 c.3121G>A c.(3121-3123)GTT>ATT p.V1041I ADCY10_uc009wvj.2_5'Flank|ADCY10_uc009wvk.2_Missense_Mutation_p.V949I|ADCY10_uc010plj.1_Missense_Mutation_p.V888I NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1041 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 TTTGTTAAAACGTGGTCAAAG 0.353000 NAV1 89796 broad.mit.edu 37 1 201618005 201618005 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:201618005G>T uc001gwu.2 + 1 556 c.209G>T c.(208-210)GGC>GTC p.G70V NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 70 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TTCAAGTCCGGCAGCGTGGAC 0.453000 TSNAX 7257 broad.mit.edu 37 1 231678314 231678314 + Silent SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:231678314A>T uc001huw.2 + 4 482 c.324A>T c.(322-324)CTA>CTT p.L108L TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_5'UTR|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_Intron|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_RNA NM_005999 NP_005990 Q99598 TSNAX_HUMAN translin-associated factor X 108 Interaction with C1D. cell differentiation|multicellular organismal development|spermatogenesis nucleus|perinuclear region of cytoplasm protein transporter activity|sequence-specific DNA binding 0 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) CCCAAGAGCTATCAGGGGAAG 0.333000 SLC35F3 148641 broad.mit.edu 37 1 234367425 234367425 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:234367425G>A uc001hwa.1 + 2 567 c.339G>A c.(337-339)CCG>CCA p.P113P SLC35F3_uc001hvy.1_Silent_p.P182P NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 113 Helical; (Potential). transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TATTCTTCCCGTTGTACTACG 0.597000 CHRM3 1131 broad.mit.edu 37 1 240072304 240072304 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr1:240072304A>G uc001hyp.2 + 5 2332 c.1553A>G c.(1552-1554)GAC>GGC p.D518G NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 518 Extracellular (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) ACCTTTTGTGACAGCTGCATA 0.498000 STAM 8027 broad.mit.edu 37 10 17735260 17735260 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:17735260A>C uc001ipj.1 + 6 700 c.484A>C c.(484-486)AAG>CAG p.K162Q STAM_uc010qcf.1_Missense_Mutation_p.K51Q|STAM_uc009xjw.1_5'Flank NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 162 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 TCTTGTAGCCAAGGATCCTGG 0.408000 MYO3A 53904 broad.mit.edu 37 10 26482178 26482178 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:26482178C>T uc001isn.2 + 32 4843 c.4483C>T c.(4483-4485)CGA>TGA p.R1495* MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1495 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 ACCCCCAAGACGACCCCGGAA 0.378000 KIAA0913 23053 broad.mit.edu 37 10 75556659 75556659 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:75556659C>T uc009xrl.2 + 16 3178 c.3146C>T c.(3145-3147)GCC>GTC p.A1049V KIAA0913_uc001jve.2_Missense_Mutation_p.A1054V|KIAA0913_uc001jvf.2_Missense_Mutation_p.A1049V|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.A484V|KIAA0913_uc010qkr.1_Missense_Mutation_p.A472V|KIAA0913_uc001jvj.2_Missense_Mutation_p.A472V|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1049 zinc ion binding breast(1) 1 Prostate(51;0.0112) GGCCCATCTGCCCCAGGGGCC 0.632000 PTEN 5728 broad.mit.edu 37 10 89692893 89692893 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:89692893C>A uc001kfb.2 + 6 1408 c.377C>A c.(376-378)GCT>GAT p.A126D NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 126 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.A126T(5)|p.R55fs*1(4)|p.A126D(3)|p.?(2)|p.Y27fs*1(2)|p.A126P(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.A126V(1)|p.A126S(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CACTGTAAAGCTGGAAAGGGA 0.408000 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PPRC1 23082 broad.mit.edu 37 10 103909733 103909733 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:103909733T>C uc001kum.2 + 14 4981 c.4942T>C c.(4942-4944)TCT>CCT p.S1648P PPRC1_uc001kun.2_Missense_Mutation_p.S1526P|PPRC1_uc010qqj.1_Missense_Mutation_p.S1384P|PPRC1_uc009xxa.2_RNA|NOLC1_uc001kuo.2_5'Flank|NOLC1_uc001kup.2_5'Flank|NOLC1_uc001kuq.2_5'Flank|NOLC1_uc009xxb.1_5'Flank|NOLC1_uc001kur.2_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CAAATTTGATTCTCTTGACTT 0.468000 SHOC2 8036 broad.mit.edu 37 10 112764475 112764475 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr10:112764475A>G uc001kzl.3 + 5 1433 c.1084A>G c.(1084-1086)ATG>GTG p.M362V SHOC2_uc009xxx.2_Missense_Mutation_p.M362V|SHOC2_uc010qrg.1_Missense_Mutation_p.M1V|SHOC2_uc001kzn.2_Missense_Mutation_p.M316V NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 362 LRR 12. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) TTCCCTCAACATGGAACACAA 0.358000 LRDD 55367 broad.mit.edu 37 11 799981 799981 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr11:799981C>G uc001lro.1 - 15 2450 c.2308G>C c.(2308-2310)GCT>CCT p.A770P SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.A753P|LRDD_uc001lrl.1_Missense_Mutation_p.A613P|LRDD_uc001lrm.1_Missense_Mutation_p.A457P|LRDD_uc001lrn.1_Missense_Mutation_p.A613P|LRDD_uc001lrp.1_Silent_p.G453G NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 770 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GAGAGGCCAGCCCCCCGCCGT 0.622000 MUC5B 727897 broad.mit.edu 37 11 1279575 1279575 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr11:1279575C>T uc009ycr.1 + 65 17708 c.17582C>T c.(17581-17583)TCG>TTG p.S5861L MUC5B_uc001ltb.2_Missense_Mutation_p.S5527L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5524 VWFC 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCTGTGTTCGTACAATGGC 0.647000 CTSD 1509 broad.mit.edu 37 11 1776147 1776147 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr11:1776147G>A uc001luc.1 - 6 949 c.816C>T c.(814-816)GTC>GTT p.V272V CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 272 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTCCAGGTGGACCTGCCAGT 0.642000 C11orf94 143678 broad.mit.edu 37 11 45928464 45928464 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr11:45928464G>T uc001nbs.3 - 2 168 c.131C>A c.(130-132)TCC>TAC p.S44Y NM_001080446 NP_001073915 C9JXX5 CK094_HUMAN hypothetical protein LOC143678 44 extracellular region 0 CAGGGGGGCGGAAAATGCCTC 0.622000 APLNR 187 broad.mit.edu 37 11 57003375 57003375 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr11:57003375T>A uc001njo.2 - 1 1553 c.1104A>T c.(1102-1104)AAA>AAT p.K368N APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 368 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 AGGGGATGGATTTCTCGTGCA 0.637000 ITPR2 3709 broad.mit.edu 37 12 26818914 26818914 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr12:26818914G>T uc001rhg.2 - 14 1897 c.1480C>A c.(1480-1482)CTG>ATG p.L494M NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 494 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ACCACATCCAGAACTTCTTGT 0.333000 NOS1 4842 broad.mit.edu 37 12 117665383 117665383 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr12:117665383C>T uc001twm.1 - 23 4155 c.3469G>A c.(3469-3471)GAG>AAG p.E1157K NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1157 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GATGGGAACTCCTCCAGCACC 0.587000 POLR1D 51082 broad.mit.edu 37 13 28239925 28239925 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr13:28239925C>T uc001urp.2 + 3 322 c.204C>T c.(202-204)GGC>GGT p.G68G POLR1D_uc010aam.2_Silent_p.G40G|POLR1D_uc001urq.2_RNA NM_152705 NP_689918 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 2 Error:Variant_position_missing_in_Q9Y2S0_after_alignment termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) AAAAAGAGGGCGATAAGGAAC 0.453000 NBEA 26960 broad.mit.edu 37 13 36124666 36124666 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr13:36124666G>A uc001uvb.2 + 42 6844 c.6638G>A c.(6637-6639)CGA>CAA p.R2213Q NBEA_uc010abi.2_Missense_Mutation_p.R869Q|NBEA_uc010tee.1_Missense_Mutation_p.R6Q|NBEA_uc010tef.1_Missense_Mutation_p.R6Q|NBEA_uc010teg.1_Missense_Mutation_p.R6Q NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2213 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGCGAGATACGAGCTGTATTT 0.358000 KLHL1 57626 broad.mit.edu 37 13 70275859 70275859 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr13:70275859C>T uc001vip.2 - 11 3016 c.2222G>A c.(2221-2223)TGT>TAT p.C741Y KLHL1_uc010thm.1_Missense_Mutation_p.C680Y NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 741 Kelch 6. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GACTACCACACAGGCACCTGC 0.318000 NALCN 259232 broad.mit.edu 37 13 101747983 101747983 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr13:101747983A>G uc001vox.1 - 28 3400 c.3211T>C c.(3211-3213)TTA>CTA p.L1071L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1071 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTAAATTTAAGTTCTTTGAC 0.358000 BAG5 9529 broad.mit.edu 37 14 104027227 104027227 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr14:104027227A>G uc001yni.1 - 2 509 c.275T>C c.(274-276)ATT>ACT p.I92T KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.I133T|BAG5_uc001ynj.1_Missense_Mutation_p.I92T|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 92 apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) CTGTATTTCAATCCGGTGTGG 0.453000 BUB1B 701 broad.mit.edu 37 15 40462775 40462775 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr15:40462775G>A uc001zkx.3 + 4 489 c.277G>A c.(277-279)GGG>AGG p.G93R NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 93 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCCTCAAGGTGGGAAGGAGAG 0.378000 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome ATP8B4 79895 broad.mit.edu 37 15 50152452 50152452 + Nonsense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr15:50152452A>T uc001zxu.2 - 28 3660 c.3518T>A c.(3517-3519)TTA>TAA p.L1173* ATP8B4_uc010ber.2_Nonsense_Mutation_p.L1046*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.L983*|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Nonsense_Mutation_p.L176* NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1173 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTCTTACATAAATTTTCAAT 0.378000 MAP2K1 5604 broad.mit.edu 37 15 66774131 66774131 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr15:66774131G>A uc010bhq.2 + 6 1082 c.607G>A c.(607-609)GAG>AAG p.E203K MAP2K1_uc010ujp.1_Missense_Mutation_p.E181K NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 203 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 CTCCCGTGGGGAGATCAAGCT 0.522000 Cardiofaciocutaneous_syndrome MEX3B 84206 broad.mit.edu 37 15 82335987 82335987 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr15:82335987G>A uc002bgq.1 - 2 1539 c.1224C>T c.(1222-1224)TCC>TCT p.S408S NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 408 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 GGAAGACCACGgaggaggaag 0.547000 ABCA3 21 broad.mit.edu 37 16 2350053 2350053 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr16:2350053C>T uc002cpy.1 - 13 2276 c.1564G>A c.(1564-1566)GAG>AAG p.E522K ABCA3_uc010bsk.1_Missense_Mutation_p.E464K|ABCA3_uc010bsl.1_Missense_Mutation_p.E522K NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 522 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TCCTCTGGCTCGGCTTCAAAG 0.617000 PRPF8 10594 broad.mit.edu 37 17 1577953 1577953 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:1577953A>T uc002fte.2 - 21 3196 c.3082T>A c.(3082-3084)TAT>AAT p.Y1028N NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1028 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATGATCCCATATGAATTCGTA 0.453000 MYH1 4619 broad.mit.edu 37 17 10397924 10397924 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:10397924G>A uc002gmo.2 - 38 5627 c.5533C>T c.(5533-5535)CGC>TGC p.R1845C uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1845 Potential. R -> H (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCATGTTTGCGTAGACCCTTG 0.393000 CDRT1 374286 broad.mit.edu 37 17 15522558 15522558 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:15522558G>A uc002gov.3 - 1 461 c.269C>T c.(268-270)TCC>TTC p.S90F TRIM16_uc002gor.1_Intron NM_006382 NP_006373 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 90 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) GTCGATCCGGGACCTGTTATA 0.388000 NOS2 4843 broad.mit.edu 37 17 26101464 26101464 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:26101464G>A uc002gzu.2 - 12 1559 c.1295C>T c.(1294-1296)ACC>ATC p.T432I NOS2_uc010crh.1_Missense_Mutation_p.T432I|NOS2_uc010wab.1_Missense_Mutation_p.T432I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 432 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GTCCATGATGGTCACATTCTG 0.577000 HOXB9 3219 broad.mit.edu 37 17 46700468 46700468 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:46700468G>A uc002inx.2 - 2 751 c.547C>T c.(547-549)CGC>TGC p.R183C NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 183 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGGAAGAGCGAGCGTGCAGC 0.552000 MRC2 9902 broad.mit.edu 37 17 60769610 60769610 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr17:60769610C>T uc002jad.2 + 30 4640 c.4238C>T c.(4237-4239)GCG>GTG p.A1413V MRC2_uc002jae.2_Missense_Mutation_p.A484V|MRC2_uc002jaf.2_Missense_Mutation_p.A279V NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1413 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GAGAACCCAGCGGCCCTGGTG 0.682000 COLEC12 81035 broad.mit.edu 37 18 480756 480756 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr18:480756G>A uc002kkm.2 - 2 224 c.9C>T c.(7-9)GAC>GAT p.D3D NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 3 Cytoplasmic (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CTGCGAAGTCGTCTGTGAGAG 0.507000 PTPRM 5797 broad.mit.edu 37 18 8076563 8076563 + Splice_Site SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr18:8076563G>T uc002knn.3 + 9 2054 c.1551_splice c.e9+1 p.E517_splice PTPRM_uc010dkv.2_Splice_Site_p.E517_splice|PTPRM_uc010wzl.1_Splice_Site_p.E304_splice NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TTTATATGAGGTAATATATAT 0.284000 MIB1 57534 broad.mit.edu 37 18 19383901 19383901 + Nonsense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr18:19383901C>T uc002ktq.2 + 10 1405 c.1405C>T c.(1405-1407)CAA>TAA p.Q469* MIB1_uc002ktp.2_Nonsense_Mutation_p.Q108* NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 469 ANK 2. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CACAGCTATGCAAGCTGCTAG 0.338000 ASXL3 80816 broad.mit.edu 37 18 31325922 31325922 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr18:31325922C>T uc010dmg.1 + 12 6165 c.6110C>T c.(6109-6111)CCA>CTA p.P2037L ASXL3_uc002kxq.2_Missense_Mutation_p.P1744L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2037 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 cctccccccccaccacctccg 0.259000 POLI 11201 broad.mit.edu 37 18 51813768 51813768 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr18:51813768G>A uc002lfj.3 + 8 1253 c.1185G>A c.(1183-1185)CAG>CAA p.Q395Q POLI_uc010xds.1_Silent_p.Q316Q|POLI_uc002lfk.3_Silent_p.Q292Q|POLI_uc010dpg.2_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 395 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) ATGTAATTCAGAAATTAGGGA 0.403000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ELAVL3 1995 broad.mit.edu 37 19 11565632 11565632 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:11565632C>T uc002mry.1 - 7 1193 c.813G>A c.(811-813)GCG>GCA p.A271A ELAVL3_uc002mrx.1_Silent_p.A264A NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 271 cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 GGCCCACGCCCGCCAGGCCGC 0.582000 GTPBP3 84705 broad.mit.edu 37 19 17450345 17450345 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:17450345C>T uc010eas.2 + 7 976 c.911C>T c.(910-912)ACG>ATG p.T304M GTPBP3_uc010xpo.1_Missense_Mutation_p.T326M|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.T304M|GTPBP3_uc002ngg.3_Missense_Mutation_p.T336M|GTPBP3_uc002ngi.3_Translation_Start_Site NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 304 GTP (Potential). tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 CTGAGCGACACGGCTGGGTTG 0.721000 ANKRD27 84079 broad.mit.edu 37 19 33090904 33090904 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:33090904G>A uc002ntn.1 - 27 2976 c.2820C>T c.(2818-2820)TAC>TAT p.Y940Y NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 940 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) AGTGGACAAAGTAAAACTGTC 0.249000 CD22 933 broad.mit.edu 37 19 35823667 35823667 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:35823667G>A uc010edt.2 + 3 329 c.252G>A c.(250-252)AAG>AAA p.K84K CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Silent_p.K84K|CD22_uc010edv.2_Silent_p.K84K|CD22_uc002nzb.3_Silent_p.K84K NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 84 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGGATGGGAAGGTTCCTTCTG 0.478000 KIR3DL1 3811 broad.mit.edu 37 19 55330051 55330051 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:55330051A>C uc002qhk.3 + 3 415 c.352A>C c.(352-354)ACA>CCA p.T118P KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.T60P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Missense_Mutation_p.T60P|KIR3DL1_uc002qhl.3_Missense_Mutation_p.T118P NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 118 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) GATCATGGTCACAGGTCAGAG 0.617000 ZFP28 140612 broad.mit.edu 37 19 57058966 57058966 + Missense_Mutation SNP G G C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:57058966G>C uc002qnj.2 + 3 461 c.390G>C c.(388-390)AAG>AAC p.K130N ZFP28_uc002qni.2_Missense_Mutation_p.K130N|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 130 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) TGTACAGGAAGGTGATGTTGG 0.532000 PEG3 5178 broad.mit.edu 37 19 57328826 57328826 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:57328826C>T uc002qnu.2 - 7 1335 c.984G>A c.(982-984)TCG>TCA p.S328S 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_Silent_p.S299S|PEG3_uc002qnv.2_Silent_p.S328S|PEG3_uc002qnw.2_Silent_p.S204S|PEG3_uc002qnx.2_Silent_p.S202S|PEG3_uc010etr.2_Silent_p.S328S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 328 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) TTGCTCTTCCCGATTTGGAAC 0.473000 PEG3 5178 broad.mit.edu 37 19 57335782 57335782 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr19:57335782G>A uc002qnu.2 - 1 593 c.242C>T c.(241-243)ACC>ATC p.T81I ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.T81I|PEG3_uc002qnv.2_Missense_Mutation_p.T81I|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.T81I NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 81 SCAN box. 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) CTCCTCCTTGGTGCGGGTCTC 0.527000 APOB 338 broad.mit.edu 37 2 21252873 21252873 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:21252873T>C uc002red.2 - 11 1495 c.1367A>G c.(1366-1368)AAC>AGC p.N456S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 456 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCTGTAGGGTTTGTCTTATG 0.393000 MAT2A 4144 broad.mit.edu 37 2 85770889 85770889 + Silent SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:85770889A>G uc002spr.2 + 9 1305 c.1182A>G c.(1180-1182)AAA>AAG p.K394K MAT2A_uc010fgk.2_Silent_p.K368K NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 394 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) AAAAGCTTAAATATTGAAAGT 0.483000 C2orf55 343990 broad.mit.edu 37 2 99443575 99443575 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:99443575C>T uc002szf.1 - 6 892 c.598G>A c.(598-600)GAC>AAC p.D200N NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 200 0 AGGCTGTTGTCTGAGATCCGG 0.572000 CNTNAP5 129684 broad.mit.edu 37 2 125547588 125547588 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:125547588G>A uc002tno.2 + 18 3223 c.2859G>A c.(2857-2859)AGG>AGA p.R953R CNTNAP5_uc010flu.2_Silent_p.R954R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 953 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTGGAGTCAGGCCAGGCTGCC 0.547000 POTEF 728378 broad.mit.edu 37 2 130832580 130832580 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:130832580A>C uc010fmh.2 - 17 2865 c.2465T>G c.(2464-2466)ATC>AGC p.I822S NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 822 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 CTCAAACATGATCTGGGTCAT 0.592000 RAB3GAP1 22930 broad.mit.edu 37 2 135926202 135926202 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:135926202C>A uc002tuj.2 + 24 2822 c.2797C>A c.(2797-2799)CCC>ACC p.P933T RAB3GAP1_uc010fnf.2_Missense_Mutation_p.P940T|RAB3GAP1_uc010fng.2_Missense_Mutation_p.P758T|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 933 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) AGACTTCCCACCCCCTGCTGG 0.557000 TTN 7273 broad.mit.edu 37 2 179553493 179553493 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:179553493T>G uc010zfg.1 - 123 28600 c.28376A>C c.(28375-28377)AAG>ACG p.K9459T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6120T|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10386 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACAGTTTTCTTAGAGACTTC 0.358000 TTN 7273 broad.mit.edu 37 2 179590293 179590293 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr2:179590293C>T uc010zfg.1 - 68 17130 c.16906G>A c.(16906-16908)GCC>ACC p.A5636T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2297T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6563 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAGGCTGGGCGCCTTCTATG 0.428000 SIRPA 140885 broad.mit.edu 37 20 1902326 1902326 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr20:1902326G>A uc002wfq.2 + 4 1082 c.722G>A c.(721-723)CGT>CAT p.R241H SIRPA_uc010zps.1_Missense_Mutation_p.R221H|SIRPA_uc002wfr.2_Missense_Mutation_p.R241H|SIRPA_uc002wfs.2_Missense_Mutation_p.R241H|SIRPA_uc002wft.2_Missense_Mutation_p.R241H NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 241 Ig-like C1-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GACCCTCTTCGTGGGACTGCC 0.632000 ZHX3 23051 broad.mit.edu 37 20 39832021 39832021 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr20:39832021G>A uc002xjs.1 - 3 1914 c.1536C>T c.(1534-1536)AGC>AGT p.S512S ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Silent_p.S512S|ZHX3_uc002xjt.1_Silent_p.S512S|ZHX3_uc002xju.1_Silent_p.S512S|ZHX3_uc002xjv.1_Silent_p.S512S|ZHX3_uc002xjw.1_Silent_p.S512S|ZHX3_uc010ggg.1_Silent_p.S512S NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 512 Required for nuclear localization.|Homeobox 2. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) TCCGACAGAAGCTCCCTTTCA 0.507000 DNTTIP1 116092 broad.mit.edu 37 20 44430674 44430674 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr20:44430674G>A uc002xpk.2 + 7 603 c.535G>A c.(535-537)GAC>AAC p.D179N NM_052951 NP_443183 Q9H147 TDIF1_HUMAN terminal deoxynucleotidyltransferase interacting 179 nucleus ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.0122) CCTGTCAAGCGACCGGGCAGC 0.597000 ZMYND8 23613 broad.mit.edu 37 20 45852980 45852980 + Nonsense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr20:45852980G>T uc002xta.1 - 19 3440 c.3186C>A c.(3184-3186)TGC>TGA p.C1062* ZMYND8_uc010ghq.1_Nonsense_Mutation_p.C693*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.C964*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.C944*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.C935*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.C990*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.C768*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.C768*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.C991*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.C953*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.C1089*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.C1036*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.C1062*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.C930*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.C1036*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.C1011*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.C1016*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.C1062*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.C1082*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.C161* NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1062 MYND-type. protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CTGACTGGGTGCAGGACTTCA 0.582000 PRPF6 24148 broad.mit.edu 37 20 62654204 62654204 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr20:62654204C>T uc002yho.2 + 13 1910 c.1742C>T c.(1741-1743)GCG>GTG p.A581V PRPF6_uc002yhp.2_Missense_Mutation_p.A581V NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 581 HAT 4. assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) CTGCGCGCCGCGTACTTCGAG 0.572000 MTMR3 8897 broad.mit.edu 37 22 30416326 30416326 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr22:30416326C>T uc003agv.3 + 17 3006 c.2678C>T c.(2677-2679)CCC>CTC p.P893L MTMR3_uc003agu.3_Missense_Mutation_p.P893L|MTMR3_uc003agw.3_Missense_Mutation_p.P893L NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 893 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GTCGAGAGGCCCCAAGTGGGG 0.552000 DEPDC5 9681 broad.mit.edu 37 22 32218693 32218693 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr22:32218693G>A uc003als.2 + 24 2163 c.2021G>A c.(2020-2022)CGC>CAC p.R674H DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.R674H|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.R674H|DEPDC5_uc003alu.2_Missense_Mutation_p.R114H|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_5'UTR|DEPDC5_uc011alt.1_Intron NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 674 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AGCAATTCCCGCCAGCCTGGT 0.542000 PNPLA3 80339 broad.mit.edu 37 22 44335951 44335951 + Missense_Mutation SNP A A G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr22:44335951A>G uc003bei.1 + 7 1231 c.1058A>G c.(1057-1059)TAT>TGT p.Y353C PNPLA3_uc010gzm.1_RNA NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 353 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) ATAATGTCTTATGTAATGCTG 0.378000 FBLN2 2199 broad.mit.edu 37 3 13679190 13679190 + Missense_Mutation SNP C C T rs112412824 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:13679190C>T uc011avb.1 + 17 3451 c.3326C>T c.(3325-3327)GCG>GTG p.A1109V FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 1109 Domain III. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ATTGGCCCCGCGCCAGCCTTC 0.622000 ZNF660 285349 broad.mit.edu 37 3 44636501 44636501 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:44636501A>C uc003cnl.1 + 3 1149 c.816A>C c.(814-816)AAA>AAC p.K272N NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CTGGAGAGAAACCCTATAAAT 0.388000 GTF2E1 2960 broad.mit.edu 37 3 120495484 120495484 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:120495484G>A uc003edz.3 + 4 979 c.865G>A c.(865-867)GCA>ACA p.A289T NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 289 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) TGTCCAAGGGGCATATGGTTC 0.428000 MME 4311 broad.mit.edu 37 3 154866382 154866382 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:154866382A>T uc010hvr.1 + 16 1752 c.1541A>T c.(1540-1542)AAT>ATT p.N514I MME_uc003fab.1_Missense_Mutation_p.N514I|MME_uc003fac.1_Missense_Mutation_p.N514I|MME_uc003fad.1_Missense_Mutation_p.N514I|MME_uc003fae.1_Missense_Mutation_p.N514I NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 514 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ATAATTCAAAATTTGAAATTC 0.313000 TIPARP 25976 broad.mit.edu 37 3 156395626 156395626 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:156395626G>A uc003fav.2 + 2 388 c.140G>A c.(139-141)AGA>AAA p.R47K LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.R47K NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 47 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|breast(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GATCAGAAAAGATTGGGAACT 0.428000 SKIL 6498 broad.mit.edu 37 3 170102413 170102413 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:170102413C>T uc003fgu.2 + 4 2001 c.1289C>T c.(1288-1290)GCA>GTA p.A430V SKIL_uc011bps.1_Missense_Mutation_p.A410V|SKIL_uc003fgv.2_Missense_Mutation_p.A430V|SKIL_uc003fgw.2_Missense_Mutation_p.A430V NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 430 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AAGACAGAGGCAAGTAAGTCC 0.413000 PIK3CA 5290 broad.mit.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:178916876G>A uc003fjk.2 + 2 420 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 88 PI3K-ABD. R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R88Q(26) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAACAAGACGACTTTGTGAC 0.363000 R88Q(SKUT1_SOFT_TISSUE)|R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SNGM_ENDOMETRIUM) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178952074 178952074 + Missense_Mutation SNP G G T rs121913283 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:178952074G>T uc003fjk.2 + 21 3286 c.3129G>T c.(3127-3129)ATG>ATT p.M1043I NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043I(33)|p.M1043V(14)|p.M1043T(3) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAACAAATGAATGATGCAC 0.368000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) MUC20 200958 broad.mit.edu 37 3 195453120 195453120 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr3:195453120C>A uc010hzo.2 + 3 1259 c.1133C>A c.(1132-1134)GCA>GAA p.A378E MUC20_uc010hzp.2_Missense_Mutation_p.A343E|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 549 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) GTCTCAGGAGCAGCTCCGGTC 0.562000 MSX1 4487 broad.mit.edu 37 4 4864504 4864504 + Silent SNP G G A rs140353960 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:4864504G>A uc003gif.2 + 2 781 c.546G>A c.(544-546)GCG>GCA p.A182A NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 176 Homeobox. apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCACCACCGCGCAGCTGCTGG 0.647000 MAN2B2 23324 broad.mit.edu 37 4 6602463 6602463 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:6602463G>A uc003gjf.1 + 10 1555 c.1519G>A c.(1519-1521)GGC>AGC p.G507S MAN2B2_uc003gje.1_Missense_Mutation_p.G507S|MAN2B2_uc011bwf.1_Missense_Mutation_p.G456S NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 507 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 AGATGAGGCGGGCCACCCAGT 0.597000 ATP8A1 10396 broad.mit.edu 37 4 42414995 42414995 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:42414995C>T uc003gwr.2 - 37 3665 c.3433G>A c.(3433-3435)GTT>ATT p.V1145I ATP8A1_uc003gwq.2_Missense_Mutation_p.V371I|ATP8A1_uc003gws.2_Missense_Mutation_p.V1130I NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 1145 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) GACTGTGAAACGATTCCATTT 0.438000 SYNPO2 171024 broad.mit.edu 37 4 119978661 119978661 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:119978661G>A uc010inb.2 + 5 3554 c.3358G>A c.(3358-3360)GAT>AAT p.D1120N SYNPO2_uc011cgh.1_Silent_p.P121P|SYNPO2_uc010inc.2_Missense_Mutation_p.D990N NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TAAACCAACCGATGGACTAGA 0.488000 FHDC1 85462 broad.mit.edu 37 4 153897817 153897817 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:153897817G>A uc003inf.2 + 11 3449 c.3374G>A c.(3373-3375)CGT>CAT p.R1125H NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1125 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GCCTCCCTCCGTCGGAAGGAC 0.657000 AGA 175 broad.mit.edu 37 4 178358635 178358635 + Nonsense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr4:178358635G>T uc003iuu.1 - 5 608 c.546C>A c.(544-546)TAC>TAA p.Y182* AGA_uc010irt.1_5'Flank|AGA_uc003iuv.1_Nonsense_Mutation_p.Y86*|AGA_uc003iuw.2_Nonsense_Mutation_p.Y86* NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 182 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) CAGGTGGTTTGTAGGGTCCGC 0.343000 KIAA0947 23379 broad.mit.edu 37 5 5463516 5463516 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:5463516G>T uc003jdm.3 + 13 4291 c.4069G>T c.(4069-4071)GAT>TAT p.D1357Y NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1357 ovary(1)|central_nervous_system(1) 2 CAGGCAAACCGATGGTGGGGA 0.562000 CTNND2 1501 broad.mit.edu 37 5 11199625 11199625 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:11199625C>A uc003jfa.1 - 11 2055 c.1910G>T c.(1909-1911)GGC>GTC p.G637V CTNND2_uc010itt.2_Missense_Mutation_p.G546V|CTNND2_uc011cmy.1_Missense_Mutation_p.G300V|CTNND2_uc011cmz.1_Missense_Mutation_p.G204V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G204V NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 637 ARM 4. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGCTGGGATGCCACCACAGTT 0.478000 CDH12 1010 broad.mit.edu 37 5 21755818 21755818 + Silent SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:21755818G>T uc010iuc.2 - 11 2225 c.1767C>A c.(1765-1767)GTC>GTA p.V589V CDH12_uc011cno.1_Silent_p.V549V|CDH12_uc003jgk.2_Silent_p.V589V|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 589 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CACATCTACAGACTCGAATAG 0.458000 HNSCC(59;0.17) NNT 23530 broad.mit.edu 37 5 43656015 43656015 + Silent SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:43656015T>G uc003joe.2 + 15 2388 c.2133T>G c.(2131-2133)GGT>GGG p.G711G NNT_uc003jof.2_Silent_p.G711G NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 711 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GTTTAGTGGGTTTGGCAGCTG 0.393000 TMEM171 134285 broad.mit.edu 37 5 72424237 72424237 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:72424237C>T uc003kcm.2 + 3 865 c.661C>T c.(661-663)CCA>TCA p.P221S TMEM171_uc003kcn.3_Missense_Mutation_p.P221S NM_173490 NP_775761 Q8WVE6 TM171_HUMAN transmembrane protein 171 isoform 1 221 integral to membrane 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) AATAATATTTCCACCCCCTCC 0.403000 PCDHA2 56146 broad.mit.edu 37 5 140175138 140175138 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:140175138G>A uc003lhd.2 + 1 695 c.589G>A c.(589-591)GGG>AGG p.G197R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.G197R|PCDHA2_uc011czy.1_Missense_Mutation_p.G197R NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 197 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCGTGCTGGGGAAATCGCT 0.458000 PCDHA4 56144 broad.mit.edu 37 5 140188221 140188221 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:140188221C>T uc003lhi.2 + 1 1550 c.1449C>T c.(1447-1449)GAC>GAT p.D483D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.D483D|PCDHA4_uc011daa.1_Silent_p.D483D NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 483 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACGCGGACGCGCAGGAGA 0.657000 ITK 3702 broad.mit.edu 37 5 156667170 156667170 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:156667170C>G uc003lwo.1 + 10 1032 c.950C>G c.(949-951)CCT>CGT p.P317R NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 317 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATTCCATCCCTCTTCTCATC 0.318000 T SYK peripheral T-cell lymphoma GABRG2 2566 broad.mit.edu 37 5 161522503 161522503 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr5:161522503A>C uc003lyz.3 + 3 620 c.262A>C c.(262-264)AAG>CAG p.K88Q GABRG2_uc010jjc.2_Missense_Mutation_p.K88Q|GABRG2_uc003lyy.3_Missense_Mutation_p.K88Q|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 88 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CTTTACAGTGAAGCCAACGTT 0.318000 NCR2 9436 broad.mit.edu 37 6 41304116 41304116 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:41304116C>A uc003oqh.2 + 2 431 c.344C>A c.(343-345)TCT>TAT p.S115Y NCR2_uc003oqi.2_Missense_Mutation_p.S115Y|NCR2_uc003oqj.2_Missense_Mutation_p.S115Y NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 115 Extracellular (Potential).|Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) TACCGCCCTTCTGACAACTCT 0.522000 HSP90AB1 3326 broad.mit.edu 37 6 44219805 44219805 + Missense_Mutation SNP T T C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:44219805T>C uc003oxa.1 + 10 1616 c.1532T>C c.(1531-1533)GTA>GCA p.V511A HSP90AB1_uc011dvr.1_Missense_Mutation_p.V501A|HSP90AB1_uc003oxb.1_Missense_Mutation_p.V511A|HSP90AB1_uc011dvs.1_Missense_Mutation_p.V331A|HSP90AB1_uc003oxc.1_Missense_Mutation_p.V149A NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 511 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTCGAGGTGGTATATATGACC 0.517000 ZNF292 23036 broad.mit.edu 37 6 87971005 87971005 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:87971005C>T uc003plm.3 + 8 7699 c.7658C>T c.(7657-7659)GCA>GTA p.A2553V NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GCTGAACCAGCATCAGCAGCT 0.378000 MDN1 23195 broad.mit.edu 37 6 90459388 90459388 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:90459388C>T uc003pnn.1 - 25 3605 c.3489G>A c.(3487-3489)GCG>GCA p.A1163A NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1163 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCCTATTCAGCGCCTCTAACA 0.398000 C6orf204 387119 broad.mit.edu 37 6 118887330 118887330 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:118887330T>G uc003pxz.1 - 3 970 c.382A>C c.(382-384)AGC>CGC p.S128R C6orf204_uc003pya.1_Missense_Mutation_p.S131R|C6orf204_uc003pyb.2_Missense_Mutation_p.S128R|C6orf204_uc011ebj.1_Missense_Mutation_p.S26R|C6orf204_uc003pyc.2_Missense_Mutation_p.S131R|C6orf204_uc011ebl.1_Missense_Mutation_p.S26R NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 128 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TGCATGAGGCTTGTACTCCAT 0.473000 RNF217 154214 broad.mit.edu 37 6 125397843 125397843 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr6:125397843G>T uc003pzs.2 + 6 784 c.446G>T c.(445-447)TGC>TTC p.C149F RNF217_uc003pzr.2_Missense_Mutation_p.C206F|RNF217_uc003pzt.2_RNA NM_152553 NP_689766 Q8TC41 RN217_HUMAN ring finger protein 217 149 RING-type. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) CATATGACCTGCTCACAATGT 0.423000 MPP6 51678 broad.mit.edu 37 7 24681385 24681385 + Missense_Mutation SNP C C G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr7:24681385C>G uc003swx.2 + 4 467 c.168C>G c.(166-168)AAC>AAG p.N56K MPP6_uc003swy.2_Missense_Mutation_p.N56K NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 56 L27 2. protein complex assembly protein binding 0 GTGACAATAACTTGGAATTAG 0.338000 PILRA 29992 broad.mit.edu 37 7 99997468 99997468 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr7:99997468C>T uc003uuo.1 + 7 1062 c.850C>T c.(850-852)CCC>TCC p.P284S PILRA_uc011kjo.1_Missense_Mutation_p.S198F|PILRA_uc003uup.1_Missense_Mutation_p.P211S|PILRA_uc003uuq.1_3'UTR NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 284 Cytoplasmic (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGAGCACCTCCCAGCCACCG 0.562000 LHFPL3 375612 broad.mit.edu 37 7 104377336 104377336 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr7:104377336G>T uc003vce.2 + 2 784 c.660G>T c.(658-660)GAG>GAT p.E220D LHFPL3_uc003vcf.2_Missense_Mutation_p.E220D NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 206 integral to membrane 0 TGATGGCAGAGGAACTGAAGG 0.433000 CSMD1 64478 broad.mit.edu 37 8 2820858 2820858 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:2820858G>A uc011kwk.1 - 60 9733 c.9343C>T c.(9343-9345)CGC>TGC p.R3115C CSMD1_uc011kwj.1_Missense_Mutation_p.R2444C|CSMD1_uc010lrg.2_Missense_Mutation_p.R1006C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3115 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAGCCCCAGCGGAAATCACTT 0.557000 BLK 640 broad.mit.edu 37 8 11403589 11403589 + Missense_Mutation SNP C C T rs140188373 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:11403589C>T uc003wty.2 + 3 733 c.152C>T c.(151-153)CCG>CTG p.P51L BLK_uc003wtz.2_5'UTR NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 51 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ACTCCTCCACCGCCCGATGAA 0.552000 C8orf58 541565 broad.mit.edu 37 8 22459490 22459490 + Silent SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:22459490C>T uc003xce.2 + 4 775 c.663C>T c.(661-663)CCC>CCT p.P221P C8orf58_uc011kzl.1_Silent_p.P221P|C8orf58_uc003xcf.2_Silent_p.P221P|KIAA1967_uc003xch.2_5'Flank NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 221 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CATAGGATCCCGGCGAGGAGG 0.637000 TACC1 6867 broad.mit.edu 37 8 38704287 38704287 + Missense_Mutation SNP C C T rs149836912 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:38704287C>T uc010lwp.2 + 12 2678 c.2299C>T c.(2299-2301)CGC>TGC p.R767C TACC1_uc003xma.2_Missense_Mutation_p.R205C|TACC1_uc003xlz.2_Missense_Mutation_p.R572C|TACC1_uc003xmc.3_Missense_Mutation_p.R571C|TACC1_uc011lbz.1_Missense_Mutation_p.R754C|TACC1_uc003xmb.3_Missense_Mutation_p.R693C|TACC1_uc003xmf.3_Missense_Mutation_p.R357C|TACC1_uc011lca.1_Missense_Mutation_p.R750C|TACC1_uc011lcb.1_Missense_Mutation_p.R543C|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.R584C|TACC1_uc010lwq.2_Missense_Mutation_p.R583C NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 767 |Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) TGCTGGACTCCGCAAAGAGCA 0.507000 IMPAD1 54928 broad.mit.edu 37 8 57905926 57905926 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:57905926G>A uc003xte.3 - 1 502 c.219C>T c.(217-219)GCC>GCT p.A73A NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 73 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) CGCGGACTGCGGCCAGCACTG 0.572000 PREX2 80243 broad.mit.edu 37 8 69046341 69046341 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:69046341G>T uc003xxv.1 + 32 3841 c.3814G>T c.(3814-3816)GTG>TTG p.V1272L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1272 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CCAGACTCTTGTGGCCACTGT 0.473000 PDP1 54704 broad.mit.edu 37 8 94935067 94935067 + Silent SNP C C T rs140224111 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:94935067C>T uc003yge.2 + 2 1049 c.780C>T c.(778-780)CTC>CTT p.L260L PDP1_uc003ygf.2_Silent_p.L285L|PDP1_uc010max.2_Silent_p.L285L|PDP1_uc011lgm.1_Silent_p.L260L|PDP1_uc011lgn.1_Silent_p.L319L NM_018444 NP_060914 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic 260 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 ATTCTTTTCTCAACTACCTGG 0.473000 DCAF13 25879 broad.mit.edu 37 8 104427608 104427608 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:104427608G>A uc003yln.2 + 1 667 c.390G>A c.(388-390)GGG>GGA p.G130G SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 TCGCCTGTGGGAGGAGGTGGC 0.627000 TRPS1 7227 broad.mit.edu 37 8 116617160 116617160 + Missense_Mutation SNP A A C TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr8:116617160A>C uc003ynz.2 - 3 1456 c.997T>G c.(997-999)TTC>GTC p.F333V TRPS1_uc011lhy.1_Missense_Mutation_p.F337V|TRPS1_uc003yny.2_Missense_Mutation_p.F346V|TRPS1_uc010mcy.2_Missense_Mutation_p.F333V NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 333 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTACAGCGGAAATACTTGGTG 0.408000 Langer-Giedion_syndrome VPS13A 23230 broad.mit.edu 37 9 79933352 79933352 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr9:79933352G>A uc004akr.2 + 41 5418 c.5158G>A c.(5158-5160)GAG>AAG p.E1720K VPS13A_uc004akp.3_Missense_Mutation_p.E1720K|VPS13A_uc004akq.3_Missense_Mutation_p.E1720K|VPS13A_uc004aks.2_Missense_Mutation_p.E1681K|VPS13A_uc004akt.2_Missense_Mutation_p.E60K|VPS13A_uc010mpo.1_Missense_Mutation_p.E316K NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1720 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACCCAAAGGCGAGATGATAAA 0.353000 NR4A3 8013 broad.mit.edu 37 9 102590479 102590479 + Missense_Mutation SNP C C A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr9:102590479C>A uc004baf.1 + 3 884 c.155C>A c.(154-156)ACC>AAC p.T52N NR4A3_uc004bae.2_Missense_Mutation_p.T52N|NR4A3_uc004bag.1_Missense_Mutation_p.T52N|NR4A3_uc004bai.2_Missense_Mutation_p.T63N NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 52 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GCTACAGCCACCACGTCCCTG 0.562000 T EWSR1 extraskeletal myxoid chondrosarcoma ZBTB26 57684 broad.mit.edu 37 9 125681219 125681219 + Missense_Mutation SNP C C T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr9:125681219C>T uc004bnj.2 - 2 1207 c.995G>A c.(994-996)GGG>GAG p.G332E ZBTB26_uc004bnk.2_Missense_Mutation_p.G332E NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 332 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGGTTTTCCCACAGATTTT 0.418000 NLGN4X 57502 broad.mit.edu 37 X 5810979 5810979 + Missense_Mutation SNP T T A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:5810979T>A uc010ndh.2 - 6 2831 c.2330A>T c.(2329-2331)AAC>ATC p.N777I NLGN4X_uc004crp.2_Missense_Mutation_p.N797I|NLGN4X_uc004crq.2_Missense_Mutation_p.N777I|NLGN4X_uc010ndi.2_Missense_Mutation_p.N814I|NLGN4X_uc004crr.2_Missense_Mutation_p.N777I|NLGN4X_uc010ndj.2_Missense_Mutation_p.N777I NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 777 Cytoplasmic (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 GGTGATGGTGTTTGGCGTCAT 0.547000 WWC3 55841 broad.mit.edu 37 X 10093130 10093130 + Silent SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:10093130G>A uc004csx.3 + 14 2091 c.1893G>A c.(1891-1893)GCG>GCA p.A631A WWC3_uc010nds.2_Silent_p.A295A|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 631 C2. ovary(4) 4 CGGGGCTGGCGGTGAAGGAAG 0.612000 CLCN5 1184 broad.mit.edu 37 X 49846487 49846487 + Missense_Mutation SNP G G A TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:49846487G>A uc004dos.1 + 6 954 c.706G>A c.(706-708)GAA>AAA p.E236K CLCN5_uc004dor.1_Missense_Mutation_p.E306K|CLCN5_uc004doq.1_Missense_Mutation_p.E306K|CLCN5_uc004dot.1_Missense_Mutation_p.E236K NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 236 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) CAGGAAGAATGAAGCCAAGCG 0.373000 ITIH5L 347365 broad.mit.edu 37 X 54823454 54823454 + Missense_Mutation SNP A A T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:54823454A>T uc004dtj.2 - 2 208 c.178T>A c.(178-180)TTT>ATT p.F60I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 60 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TGTGGATTAAACAGGACAGAG 0.478000 VSIG4 11326 broad.mit.edu 37 X 65242139 65242139 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:65242139T>G uc004dwh.2 - 8 1293 c.1166A>C c.(1165-1167)GAG>GCG p.E389A VSIG4_uc004dwi.2_Missense_Mutation_p.E295A|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 389 Cytoplasmic (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GGCCAGAAACTCATAATCCAG 0.512000 PCDH11X 27328 broad.mit.edu 37 X 91132785 91132785 + Missense_Mutation SNP G G T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:91132785G>T uc004efk.1 + 2 2391 c.1546G>T c.(1546-1548)GAT>TAT p.D516Y PCDH11X_uc004efl.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D516Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D516Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D516Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 516 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATTCAGCCTGGATTGTCGTAC 0.438000 BCORL1 63035 broad.mit.edu 37 X 129185952 129185952 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:129185952T>G uc004evb.1 + 12 4928 c.4814T>G c.(4813-4815)CTT>CGT p.L1605R BCORL1_uc004evc.1_Missense_Mutation_p.L441R NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1605 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GACAAGCCTCTTCTCCCTTGC 0.527000 F8 2157 broad.mit.edu 37 X 154088774 154088774 + Missense_Mutation SNP T T G TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:154088774T>G uc004fmt.2 - 25 7004 c.6833A>C c.(6832-6834)GAG>GCG p.E2278A F8_uc004fms.2_Missense_Mutation_p.E143A NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2278 F5/8 type C 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GATGAGGAACTCCTTCACATA 0.418000 PRRG3 79057 broad.mit.edu 37 X 150869083 150869084 + Frame_Shift_Ins INS - - T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:150869083_150869084insT uc004few.1 + 4 664_665 c.274_275insT c.(274-276)CTGfs p.L92fs NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 92 Helical; (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGCACTGCTGATTGTCATC 0.579 ASB15 142685 broad.mit.edu 37 7 123276961 123276970 + Frame_Shift_Del DEL CTACCACCAG CTACCACCAG - rs145871395 TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr7:123276960_123276969TCTACCACCAG>T uc003vku.1 + 11 1984_1993 c.1692_1701TCTACCACCAG>T c.(1690-1701)cctctaccaccafs p.P564fs ASB15_uc003vkw.1_Frame_Shift_Del_p.P564fs NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 564 SOCS box. intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGAAGCTTCCTCTACCACCAGCTATTCAAA 0.348 OR4N2 390429 broad.mit.edu 37 14 20296524 20296524 + Frame_Shift_Del DEL T T - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr14:20296523_20296523AT>A uc010tkv.2 + 0 916 c.916_916AT>A c.(916-918)atafs p.I306fs NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAATAAGCACATAGCCTGAAA 0.338 LIPI 149998 broad.mit.edu 37 21 15517057 15517057 + Frame_Shift_Del DEL A A - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr21:15517056_15517056CA>C uc002yjm.3 - 8 1256 c.1246_1246TG>G c.(1246-1248)gtafs p.V416fs LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Frame_Shift_Del_p.V365fs|LIPI_uc021whh.1_Frame_Shift_Del_p.V389fs|LIPI_uc021whi.1_Frame_Shift_Del_p.V230fs|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Frame_Shift_Del_p.V360fs|LIPI_uc021whf.1_Frame_Shift_Del_p.V395fs NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 395 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GAAATATTTACAAAGTCATTA 0.318 TNFRSF13C 115650 broad.mit.edu 37 22 42321482 42321484 + In_Frame_Del DEL AGG AGG - TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chr22:42321481_42321483CAGG>C uc010gyp.1 - 2 490_492 c.446_448CCTG>G c.(445-450)cctggg>cGgg p.149_150PG>R bK250D10.C22.8_uc003bba.1_Intron|TNFRSF13C_uc003bbl.2_In_Frame_Del_p.148_149PG>R NM_052945 NP_443177 Q96RJ3 TR13C_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 13C (TNFRSF13C), mRNA. 148 integral to membrane receptor activity lung(2)|urinary_tract(1) 3 GGGTCTTCCCCAGGAGGAGGCCA 0.645 PRRG3 79057 broad.mit.edu 37 X 150869084 150869085 + Frame_Shift_Ins INS - - T TCGA-D7-5577-01A-01D-1600-08 TCGA-D7-5577-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2e22c70-8295-481b-a853-e756e7a7d8e7 000c187a-0896-4c4a-81e8-36479b55b228 g.chrX:150869083_150869084C>CT uc022cgt.1 + 3 323_324 c.274_275C>CT c.(274-276)ctgfs p.L92fs PRRG3_uc004few.2_Frame_Shift_Ins_p.L92fs NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN Homo sapiens proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) (PRRG3), transcript variant 1, mRNA. 92 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGCACTGCTGATTGTCATC 0.579