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 SCNN1D 6339 broad.mit.edu 37 1 1222237 1222237 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:1222237G>T uc001adu.1 + 7 1133 c.509G>T c.(508-510)GGC>GTC p.G170V SCNN1D_uc001adt.1_Missense_Mutation_p.G334V|SCNN1D_uc001adw.2_Missense_Mutation_p.G236V|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Missense_Mutation_p.G170V NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CTCAGCAAAGGCAGAGCCGCC 0.667000 DMBX1 127343 broad.mit.edu 37 1 46972811 46972811 + Silent SNP G G A rs145308708 byFrequency TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:46972811G>A uc001cpx.2 + 1 144 c.129G>A c.(127-129)GCG>GCA p.A43A DMBX1_uc001cpw.2_Silent_p.A43A NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 43 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CAGTGCATGCGCTTACATTGG 0.637000 BEND5 79656 broad.mit.edu 37 1 49193689 49193689 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:49193689C>G uc001crx.3 - 6 1179 c.1135G>C c.(1135-1137)GAA>CAA p.E379Q AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.E210Q NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 379 BEN. skin(1) 1 TCCACAGTTTCTTGTGCTATT 0.353000 BEND5 79656 broad.mit.edu 37 1 49208340 49208340 + Silent SNP G G A rs146041042 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:49208340G>A uc001crx.3 - 4 893 c.849C>T c.(847-849)CCC>CCT p.P283P AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Silent_p.P114P NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 283 skin(1) 1 GCGCAGGAGCGGGGTAATAGG 0.468000 BARHL2 343472 broad.mit.edu 37 1 91178119 91178119 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:91178119G>A uc001dns.2 - 3 956 c.914C>T c.(913-915)TCG>TTG p.S305L NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 305 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CTGCAGCGCCGAGTAGTTCCC 0.627000 CDC7 8317 broad.mit.edu 37 1 91977205 91977205 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:91977205T>C uc001doe.2 + 5 552 c.387T>C c.(385-387)CAT>CAC p.H129H CDC7_uc001dof.2_Silent_p.H129H|CDC7_uc010osw.1_Silent_p.H101H|CDC7_uc009wdc.2_Silent_p.H129H NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 129 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) AGAATGATCATGTAGTTATTG 0.333000 GFI1 2672 broad.mit.edu 37 1 92941605 92941605 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:92941605G>A uc001dou.3 - 7 1414 c.1250C>T c.(1249-1251)ACG>ATG p.T417M GFI1_uc001dov.3_Missense_Mutation_p.T417M|GFI1_uc001dow.3_Missense_Mutation_p.T417M NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 417 C2H2-type 6. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CCCATGCTGCGTCTCCCGGTG 0.612000 COL11A1 1301 broad.mit.edu 37 1 103387081 103387081 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:103387081C>T uc001dul.2 - 48 4019 c.3701G>A c.(3700-3702)GGA>GAA p.G1234E COL11A1_uc001duk.2_Missense_Mutation_p.G430E|COL11A1_uc001dum.2_Missense_Mutation_p.G1246E|COL11A1_uc001dun.2_Missense_Mutation_p.G1195E|COL11A1_uc009weh.2_Missense_Mutation_p.G1118E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1234 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACATCAGCTCCATTGGGACC 0.363000 NOTCH2 4853 broad.mit.edu 37 1 120529603 120529603 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:120529603C>T uc001eik.2 - 5 1110 c.854G>A c.(853-855)CGC>CAC p.R285H NOTCH2_uc001eil.2_Missense_Mutation_p.R285H|NOTCH2_uc001eim.3_Missense_Mutation_p.R202H NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 285 EGF-like 7; calcium-binding (Potential).|Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGGGGACAGCGGCAGTTGTA 0.468000 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome HIST2H2AB 317772 broad.mit.edu 37 1 149859253 149859253 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:149859253G>A uc001ete.2 - 1 214 c.214C>T c.(214-216)CGG>TGG p.R72W HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 72 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTGTTGTCCCGAGCCGCGTTG 0.632000 SELENBP1 8991 broad.mit.edu 37 1 151337403 151337403 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:151337403T>C uc001exx.2 - 11 1302 c.1255A>G c.(1255-1257)AGG>GGG p.R419G SELENBP1_uc010pcy.1_Missense_Mutation_p.R461G|SELENBP1_uc001exy.2_Missense_Mutation_p.R316G|SELENBP1_uc001exz.2_Missense_Mutation_p.R316G|SELENBP1_uc010pcz.1_Missense_Mutation_p.R357G|SELENBP1_uc009wms.2_Missense_Mutation_p.R255G|SELENBP1_uc009wmt.2_Missense_Mutation_p.R316G|SELENBP1_uc001eya.2_Missense_Mutation_p.R355G|SELENBP1_uc009wmu.2_3'UTR NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 419 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTTCTCACCTGATGAGATCA 0.572000 FLG 2312 broad.mit.edu 37 1 152275879 152275879 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:152275879G>A uc001ezu.1 - 3 11519 c.11483C>T c.(11482-11484)TCG>TTG p.S3828L NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3828 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTGACGCGACCCTGAGTG 0.592000 Ichthyosis ADAR 103 broad.mit.edu 37 1 154570392 154570392 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:154570392C>T uc001ffh.2 - 4 2046 c.1846G>A c.(1846-1848)GTC>ATC p.V616I ADAR_uc001ffj.2_Missense_Mutation_p.V616I|ADAR_uc001ffi.2_Missense_Mutation_p.V616I|ADAR_uc001ffk.2_Missense_Mutation_p.V321I NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 616 DRBM 2. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) AGTGTGGTGACGGGGCTCTTC 0.502000 CADM3 57863 broad.mit.edu 37 1 159169578 159169578 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:159169578C>G uc001ftl.2 + 8 1132 c.990C>G c.(988-990)CAC>CAG p.H330Q CADM3_uc001ftk.2_Missense_Mutation_p.H364Q|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 330 Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) GCACCTACCACGCCATCATCG 0.542000 DDR2 4921 broad.mit.edu 37 1 162740230 162740230 + Missense_Mutation SNP C C G rs34869543 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:162740230C>G uc001gcf.2 + 13 1897 c.1432C>G c.(1432-1434)CGC>GGC p.R478G DDR2_uc001gcg.2_Missense_Mutation_p.R478G NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 478 Cytoplasmic (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTTTCCCCTTCGCCCTGACTA 0.532000 RASAL2 9462 broad.mit.edu 37 1 178427010 178427010 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:178427010G>A uc001glr.2 + 12 2285 c.2160G>A c.(2158-2160)GTG>GTA p.V720V RASAL2_uc001glq.2_Silent_p.V861V|RASAL2_uc009wxc.2_Silent_p.V234V NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 720 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CTGCTCAAGTGGAGCATGCAT 0.517000 MOSC1 64757 broad.mit.edu 37 1 220971337 220971337 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:220971337G>T uc001hms.2 + 4 982 c.734G>T c.(733-735)GGA>GTA p.G245V MOSC1_uc001hmt.2_Missense_Mutation_p.G245V NM_022746 NP_073583 Q5VT66 MOSC1_HUMAN MOCO sulphurase C-terminal domain containing 1 245 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.0358) GTAATTTCAGGATGCGATGTC 0.423000 ARID4B 51742 broad.mit.edu 37 1 235345675 235345675 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr1:235345675G>A uc001hwq.2 - 20 3057 c.2559C>T c.(2557-2559)TGC>TGT p.C853C ARID4B_uc001hwr.2_Silent_p.C767C|ARID4B_uc001hws.3_Silent_p.C767C|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Silent_p.C534C NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TGTTTTCCATGCAAAGTGATT 0.368000 SLC39A12 221074 broad.mit.edu 37 10 18250745 18250745 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:18250745A>G uc001ipo.2 + 3 770 c.497A>G c.(496-498)GAT>GGT p.D166G SLC39A12_uc001ipn.2_Missense_Mutation_p.D166G|SLC39A12_uc001ipp.2_Missense_Mutation_p.D166G|SLC39A12_uc010qck.1_Missense_Mutation_p.D32G NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 166 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GAGACAGAAGATATCTTGGCT 0.423000 ZEB1 6935 broad.mit.edu 37 10 31812911 31812911 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:31812911G>C uc001ivs.3 + 8 2715 c.2652G>C c.(2650-2652)CAG>CAC p.Q884H ZEB1_uc001ivr.3_Missense_Mutation_p.Q666H|ZEB1_uc010qee.1_Missense_Mutation_p.Q666H|ZEB1_uc010qef.1_Missense_Mutation_p.Q666H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q666H|ZEB1_uc001ivt.3_Missense_Mutation_p.Q666H|ZEB1_uc001ivu.3_Missense_Mutation_p.Q885H|ZEB1_uc001ivv.3_Missense_Mutation_p.Q864H|ZEB1_uc010qeh.1_Missense_Mutation_p.Q817H|ZEB1_uc009xlp.2_Missense_Mutation_p.Q868H NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 884 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) TAGAGGATCAGAATGACTCTG 0.358000 PRKG1 5592 broad.mit.edu 37 10 53893600 53893600 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:53893600G>T uc001jjm.2 + 8 1085 c.891G>T c.(889-891)GGG>GGT p.G297G PRKG1_uc001jjo.2_Silent_p.G312G|PRKG1_uc009xow.1_Missense_Mutation_p.R15S NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 297 cGMP 2. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTTCACATAGGGAAGATGTGA 0.318000 PCDH15 65217 broad.mit.edu 37 10 55663110 55663110 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:55663110T>C uc001jju.1 - 26 3789 c.3394A>G c.(3394-3396)ATT>GTT p.I1132V PCDH15_uc010qhq.1_Missense_Mutation_p.I1137V|PCDH15_uc010qhr.1_Missense_Mutation_p.I1132V|PCDH15_uc010qhs.1_Missense_Mutation_p.I1144V|PCDH15_uc010qht.1_Missense_Mutation_p.I1139V|PCDH15_uc010qhu.1_Missense_Mutation_p.I1132V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1132V|PCDH15_uc010qhw.1_Missense_Mutation_p.I1095V|PCDH15_uc010qhx.1_Missense_Mutation_p.I1061V|PCDH15_uc010qhy.1_Missense_Mutation_p.I1137V|PCDH15_uc010qhz.1_Missense_Mutation_p.I1132V|PCDH15_uc010qia.1_Missense_Mutation_p.I1110V|PCDH15_uc010qib.1_Missense_Mutation_p.I1110V NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1132 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TGAATCTCAATGTATACTTTA 0.368000 HNSCC(58;0.16) BICC1 80114 broad.mit.edu 37 10 60556153 60556153 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:60556153G>T uc001jki.1 + 10 1233 c.1233G>T c.(1231-1233)AGG>AGT p.R411S BICC1_uc001jkj.1_Missense_Mutation_p.R52S NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 411 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 ATGAAGCAAGGAAATGTCTCC 0.473000 HERC4 26091 broad.mit.edu 37 10 69700775 69700775 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr10:69700775G>A uc001jng.3 - 21 2760 c.2449C>T c.(2449-2451)CCT>TCT p.P817S HERC4_uc009xpq.2_Missense_Mutation_p.P350S|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.P809S|HERC4_uc009xpr.2_Intron|HERC4_uc001jni.3_Missense_Mutation_p.P553S NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 817 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 AAAGCCAAAGGAAAATGGAGG 0.338000 ABCC8 6833 broad.mit.edu 37 11 17450207 17450207 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:17450207G>A uc001mnc.2 - 13 1954 c.1828C>T c.(1828-1830)CTA>TTA p.L610L NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 610 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AACTCGCTTAGCTTTTGCACG 0.642000 ABCC8 6833 broad.mit.edu 37 11 17482049 17482049 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:17482049C>T uc001mnc.2 - 6 1123 c.997G>A c.(997-999)GTC>ATC p.V333I ABCC8_uc010rcy.1_Missense_Mutation_p.V332I NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 333 Extracellular (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGCTGGAAGACGTCGTTCTCC 0.587000 DBX1 120237 broad.mit.edu 37 11 20180794 20180794 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:20180794C>T uc001mpw.1 - 2 412 c.412G>A c.(412-414)GCC>ACC p.A138T NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 138 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TAGGGAAAGGCGAAGGTCTTG 0.567000 ANO3 63982 broad.mit.edu 37 11 26538454 26538454 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:26538454G>A uc001mqt.3 + 6 817 c.672G>A c.(670-672)CTG>CTA p.L224L ANO3_uc010rdr.1_Silent_p.L208L|ANO3_uc010rds.1_Silent_p.L78L|ANO3_uc010rdt.1_Silent_p.L78L NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 224 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CAGAGAGGCTGAATATCAGGA 0.358000 AGBL2 79841 broad.mit.edu 37 11 47681771 47681771 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:47681771G>A uc001ngg.2 - 18 2763 c.2663C>T c.(2662-2664)GCT>GTT p.A888V AGBL2_uc001ngf.2_RNA NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 888 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 CGCCATGGCAGCACAGCCTCT 0.527000 PTPRJ 5795 broad.mit.edu 37 11 48177607 48177607 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:48177607G>A uc001ngp.3 + 21 3729 c.3374G>A c.(3373-3375)CGT>CAT p.R1125H NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1125 Tyrosine-protein phosphatase.|Cytoplasmic (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 GATTTTTGGCGTATGGTTTGG 0.333000 OR8J3 81168 broad.mit.edu 37 11 55904988 55904988 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:55904988G>T uc010riz.1 - 1 207 c.207C>A c.(205-207)ATC>ATA p.I69I NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TGCCAAGATTGATGATAGCTA 0.448000 OR5T1 390155 broad.mit.edu 37 11 56043418 56043418 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:56043418A>G uc001nio.1 + 1 304 c.304A>G c.(304-306)AAA>GAA p.K102E NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 102 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) GGCAAAAAATAAATCTATTTC 0.373000 ACTN3 89 broad.mit.edu 37 11 66330604 66330604 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:66330604G>A uc001oio.1 + 22 2664 c.2646G>A c.(2644-2646)CCG>CCA p.P882P ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 882 focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 CCGGGGCCCCGGCTGGAGCCC 0.627000 DLG2 1740 broad.mit.edu 37 11 83182758 83182758 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:83182758C>T uc001paj.2 - 19 2345 c.2042G>A c.(2041-2043)CGG>CAG p.R681Q DLG2_uc001pai.2_Missense_Mutation_p.R560Q|DLG2_uc010rsy.1_Missense_Mutation_p.R630Q|DLG2_uc010rsz.1_Missense_Mutation_p.R677Q|DLG2_uc010rta.1_Missense_Mutation_p.R663Q|DLG2_uc001pak.2_Missense_Mutation_p.R786Q|DLG2_uc010rtb.1_Missense_Mutation_p.R648Q|DLG2_uc010rsw.1_Missense_Mutation_p.R145Q|DLG2_uc010rsx.1_Missense_Mutation_p.R158Q NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 681 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AATCACCGGCCGGGTGTAGTT 0.453000 ANKRD49 54851 broad.mit.edu 37 11 94231299 94231299 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:94231299T>C uc001pew.2 + 3 460 c.321T>C c.(319-321)GAT>GAC p.D107D ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN fetal globin inducing factor 107 ANK 2. positive regulation of transcription, DNA-dependent central_nervous_system(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGGATGAAGATGAGTATACCC 0.463000 C11orf87 399947 broad.mit.edu 37 11 109294891 109294891 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:109294891G>A uc001pkn.2 + 2 906 c.532G>A c.(532-534)GCA>ACA p.A178T C11orf87_uc010rwb.1_RNA NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 178 Cytoplasmic (Potential). integral to membrane ovary(2) 2 AGGAGCACACGCAGCTTCCTC 0.642000 CLDN25 644672 broad.mit.edu 37 11 113650534 113650534 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr11:113650534G>A uc009yyw.1 + 1 17 c.17G>A c.(16-18)CGT>CAT p.R6H NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 6 Cytoplasmic (Potential). integral to membrane|tight junction structural molecule activity 0 TGGAGTTTCCGTGCAAAAGTC 0.542000 VWF 7450 broad.mit.edu 37 12 6103071 6103071 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:6103071C>A uc001qnn.1 - 37 6805 c.6555G>T c.(6553-6555)CGG>CGT p.R2185R VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2185 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCCCGTTGGTCCGACAGAGGT 0.517000 SLC2A3 6515 broad.mit.edu 37 12 8077053 8077053 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:8077053C>A uc001qtr.2 - 8 1283 c.1021G>T c.(1021-1023)GGG>TGG p.G341W NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 341 Helical; Name=9; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) AAAGCCATCCCTCCAAGGCCT 0.428000 TAS2R13 50838 broad.mit.edu 37 12 11060990 11060990 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:11060990C>T uc001qzg.1 - 1 1172 c.908G>A c.(907-909)CGA>CAA p.R303Q PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 303 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 AGTTTCTCATCGTTTAGCCCA 0.398000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) BICD1 636 broad.mit.edu 37 12 32458680 32458680 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:32458680C>A uc001rku.2 + 4 710 c.629C>A c.(628-630)ACG>AAG p.T210K BICD1_uc001rkv.2_Missense_Mutation_p.T210K|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 210 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GAGGAGGAGACGGTACTGCTG 0.418000 KRT84 3890 broad.mit.edu 37 12 52775182 52775182 + Missense_Mutation SNP C C T rs146876431 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:52775182C>T uc001sah.1 - 5 1088 c.1040G>A c.(1039-1041)CGC>CAC p.R347H NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 347 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCGGCTGCGCCTGGCCAC 0.562000 KRT2 3849 broad.mit.edu 37 12 53042031 53042031 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:53042031C>T uc001sat.2 - 5 1081 c.1048G>A c.(1048-1050)GCC>ACC p.A350T NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 350 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TTGACCTCGGCGATGATGCTA 0.537000 NPFF 8620 broad.mit.edu 37 12 53900562 53900562 + Nonstop_Mutation SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:53900562A>T uc001sdw.1 - 3 504 c.340T>A c.(340-342)TGA>AGA p.*114R NM_003717 NP_003708 O15130 NPFF_HUMAN neuropeptide FF-amide peptide preproprotein 114 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 ATGACATGTCACTTCTTCCCA 0.527000 ITGA5 3678 broad.mit.edu 37 12 54790125 54790125 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:54790125G>A uc001sga.2 - 30 3170 c.3102C>T c.(3100-3102)ACC>ACT p.T1034T NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 1034 Cytoplasmic (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 TTTCCATGGCGGTGCCATATG 0.517000 NAV3 89795 broad.mit.edu 37 12 78594292 78594292 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:78594292G>A uc001syp.2 + 38 6928 c.6755G>A c.(6754-6756)GGT>GAT p.G2252D NAV3_uc001syo.2_Missense_Mutation_p.G2230D|NAV3_uc010sub.1_Missense_Mutation_p.G1709D|NAV3_uc009zsf.2_Missense_Mutation_p.G1061D NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2252 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GATGTAGAAGGTTCTAGAGTA 0.348000 HNSCC(70;0.22) GAS2L3 283431 broad.mit.edu 37 12 101017746 101017746 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:101017746C>T uc001thu.2 + 10 1389 c.1163C>T c.(1162-1164)TCA>TTA p.S388L GAS2L3_uc009zty.2_Missense_Mutation_p.S388L|GAS2L3_uc001thv.2_Missense_Mutation_p.S284L NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 388 cell cycle arrest skin(1) 1 CTCAAGTCTTCAAAAGGCATA 0.428000 TCHP 84260 broad.mit.edu 37 12 110345342 110345342 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:110345342C>T uc001tpn.2 + 6 690 c.537C>T c.(535-537)ACC>ACT p.T179T TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Silent_p.T179T NM_001143852 NP_001137324 Q9BT92 TCHP_HUMAN trichoplein 179 Glu-rich.|Interaction with keratin proteins.|Potential. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding skin(1) 1 AAGAAGCCACCGCAGAGCAAG 0.517000 EP400 57634 broad.mit.edu 37 12 132464291 132464291 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr12:132464291C>T uc001ujn.2 + 2 1423 c.1388C>T c.(1387-1389)ACG>ATG p.T463M EP400_uc001ujl.2_Missense_Mutation_p.T462M|EP400_uc001ujm.2_Missense_Mutation_p.T463M|EP400_uc001ujj.1_Missense_Mutation_p.T462M|EP400_uc001ujk.2_Missense_Mutation_p.T499M NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 499 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACAGTAGAGACGGACCTGTTT 0.577000 EDNRB 1910 broad.mit.edu 37 13 78492731 78492731 + Translation_Start_Site SNP G G A rs12868905 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr13:78492731G>A uc001vko.2 - 1 236 c.-22C>T c.(-24--20)GACGC>GATGC uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Translation_Start_Site|EDNRB_uc010aez.1_Translation_Start_Site|EDNRB_uc001vkp.1_Missense_Mutation_p.T76M|EDNRB_uc010afa.1_Translation_Start_Site NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TCCAGAAGGCGTCCGGTGGCC 0.632000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLITRK6 84189 broad.mit.edu 37 13 86369237 86369237 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr13:86369237G>T uc001vll.1 - 2 1866 c.1407C>A c.(1405-1407)AAC>AAA p.N469K SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 469 Extracellular (Potential).|LRR 10. N -> H (in Ref. 1). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CTTGGAGGAGGTTGTTATTTA 0.328000 SLITRK5 26050 broad.mit.edu 37 13 88328906 88328906 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr13:88328906C>T uc001vln.2 + 2 1482 c.1263C>T c.(1261-1263)ATC>ATT p.I421I SLITRK5_uc010tic.1_Silent_p.I180I NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 421 LRR 7.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) AGAACTACATCGCTGTCGTGC 0.572000 ADCK1 57143 broad.mit.edu 37 14 78374153 78374153 + Missense_Mutation SNP G G A rs140603078 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr14:78374153G>A uc001xui.2 + 7 848 c.749G>A c.(748-750)CGA>CAA p.R250Q ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Missense_Mutation_p.R182Q|ADCK1_uc001xuk.1_Missense_Mutation_p.R124Q NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 257 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CAGGTCCCCCGAATCCACTGG 0.582000 SERPINA3 12 broad.mit.edu 37 14 95088714 95088714 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr14:95088714C>T uc001ydp.2 + 4 1033 c.954C>T c.(952-954)ATC>ATT p.I318I SERPINA3_uc001ydo.3_Silent_p.I343I|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.I318I|SERPINA3_uc001yds.2_Silent_p.I318I|SERPINA3_uc010avg.2_Silent_p.I318I NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 318 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGTTTTCCATCTCGAGGGACT 0.502000 TECPR2 9895 broad.mit.edu 37 14 102918810 102918810 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr14:102918810G>A uc001ylw.1 + 16 3634 c.3486G>A c.(3484-3486)ACG>ACA p.T1162T TECPR2_uc010awl.2_Silent_p.T1162T|TECPR2_uc010txx.1_Silent_p.T325T NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1162 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 GGCCCTCCACGGTGCAGCTGC 0.657000 AHNAK2 113146 broad.mit.edu 37 14 105415602 105415602 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr14:105415602G>A uc010axc.1 - 7 6306 c.6186C>T c.(6184-6186)CCC>CCT p.P2062P AHNAK2_uc001ypx.2_Silent_p.P1962P NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2062 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGCTCCCTCGGGCACGTGGC 0.632000 NDN 4692 broad.mit.edu 37 15 23931569 23931569 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr15:23931569C>G uc001ywk.2 - 1 882 c.796G>C c.(796-798)GCC>CCC p.A266P NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 266 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCGCGGCTGGCCCGGGAGCCC 0.557000 Prader-Willi_syndrome NOX5 79400 broad.mit.edu 37 15 69339812 69339812 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr15:69339812C>T uc002ars.1 + 12 1772 c.1752C>T c.(1750-1752)GCC>GCT p.A584A NOX5_uc002arp.1_Silent_p.A566A|NOX5_uc002arq.1_Silent_p.A538A|NOX5_uc010bid.1_Silent_p.A549A|NOX5_uc002arr.1_Silent_p.A556A|NOX5_uc010bie.1_Silent_p.A384A|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 584 Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CTGAGCATGCCGTGCTCATCG 0.582000 C15orf26 161502 broad.mit.edu 37 15 81440853 81440853 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr15:81440853C>A uc002bgb.2 + 7 912 c.885C>A c.(883-885)GCC>GCA p.A295A NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 295 0 TGGAGCAGGCCATGGGCCTTG 0.527000 ST8SIA2 8128 broad.mit.edu 37 15 92988117 92988117 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr15:92988117G>A uc002bra.2 + 5 955 c.800G>A c.(799-801)CGC>CAC p.R267H ST8SIA2_uc002brb.2_Missense_Mutation_p.R246H NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 267 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GTCAACGTGCGCACTGCATAC 0.617000 CHSY1 22856 broad.mit.edu 37 15 101717818 101717818 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr15:101717818G>T uc002bwt.1 - 4 2667 c.2184C>A c.(2182-2184)GTC>GTA p.V728V CHSY1_uc010usd.1_Silent_p.V456V NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 728 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AACCTGCCTGGACAACCTTGT 0.488000 ABCA3 21 broad.mit.edu 37 16 2329025 2329025 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr16:2329025C>T uc002cpy.1 - 29 5178 c.4466G>A c.(4465-4467)CGC>CAC p.R1489H ABCA3_uc010bsk.1_Missense_Mutation_p.R1431H NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1489 ABC transporter 2. 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) CCCGATGTGGCGCTCAGGGAT 0.652000 VASN 114990 broad.mit.edu 37 16 4431585 4431585 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr16:4431585G>A uc002cwj.1 + 2 862 c.707G>A c.(706-708)CGA>CAA p.R236Q CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 236 Extracellular (Potential).|LRR 8. extracellular region|integral to membrane 0 CCTGTGATCCGAGGCCTCCGG 0.711000 CES7 221223 broad.mit.edu 37 16 55883653 55883653 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr16:55883653G>A uc002eip.2 - 11 1455 c.1306C>T c.(1306-1308)CGG>TGG p.R436W CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.R197W|CES7_uc002eir.2_Missense_Mutation_p.R330W NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 436 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GGCCGGTGCCGAAACTCATAG 0.572000 SPG7 6687 broad.mit.edu 37 16 89623299 89623299 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr16:89623299C>T uc002fnj.2 + 17 2207 c.2186C>T c.(2185-2187)GCA>GTA p.A729V SPG7_uc002fnl.2_Missense_Mutation_p.A138V NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 729 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TTCTAGCTGGCAAACGCCCTT 0.562000 SLC43A2 124935 broad.mit.edu 37 17 1478995 1478995 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:1478995T>C uc002fsv.2 - 14 1702 c.1613A>G c.(1612-1614)TAC>TGC p.Y538C SLC43A2_uc002fsu.2_Missense_Mutation_p.Y542C NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 538 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) CTGGCGCCGGTAGCAGATCAG 0.637000 TP53 7157 broad.mit.edu 37 17 7577130 7577130 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:7577130A>G uc002gim.2 - 8 1002 c.808T>C c.(808-810)TTT>CTT p.F270L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138L|TP53_uc010cng.1_Missense_Mutation_p.F138L|TP53_uc002gii.1_Missense_Mutation_p.F138L|TP53_uc010cnh.1_Missense_Mutation_p.F270L|TP53_uc010cni.1_Missense_Mutation_p.F270L|TP53_uc002gij.2_Missense_Mutation_p.F270L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 270 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGCACCTCAAAGCTGTTCCGT 0.537000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) CWC25 54883 broad.mit.edu 37 17 36971114 36971114 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:36971114C>T uc002hqu.2 - 3 581 c.428G>A c.(427-429)AGG>AAG p.R143K CWC25_uc010wdv.1_Missense_Mutation_p.R80K|CWC25_uc010wdw.1_RNA|CWC25_uc010wdx.1_RNA NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 143 0 CCATTAGTACCTGATGATGAA 0.488000 PLEKHH3 79990 broad.mit.edu 37 17 40820258 40820258 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:40820258T>A uc002iau.2 - 13 2736 c.2269A>T c.(2269-2271)AGC>TGC p.S757C PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Missense_Mutation_p.S118C|PLEKHH3_uc002iaw.2_3'UTR NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 757 Poly-Ser. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GAAGAGCTGCTGCAGGGCCTC 0.647000 SEPT4 5414 broad.mit.edu 37 17 56598621 56598621 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:56598621C>T uc002iwm.1 - 9 1236 c.1108G>A c.(1108-1110)GTG>ATG p.V370M SEPT4_uc002iwk.1_Missense_Mutation_p.V223M|SEPT4_uc010wnw.1_Missense_Mutation_p.V223M|SEPT4_uc002iwl.1_Missense_Mutation_p.V223M|SEPT4_uc002iwn.1_Missense_Mutation_p.V271M|SEPT4_uc002iwo.1_Missense_Mutation_p.V351M|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Missense_Mutation_p.V385M|SEPT4_uc010wny.1_Missense_Mutation_p.V362M|SEPT4_uc010dcy.1_3'UTR NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 370 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTACCTTCCACGATGCCCCAG 0.577000 OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BCAS3 54828 broad.mit.edu 37 17 59093117 59093117 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:59093117C>G uc002iyv.3 + 16 1601 c.1492C>G c.(1492-1494)CTG>GTG p.L498V BCAS3_uc010wow.1_Missense_Mutation_p.L285V|BCAS3_uc002iyu.3_Missense_Mutation_p.L498V|BCAS3_uc002iyw.3_Missense_Mutation_p.L494V|BCAS3_uc002iyy.3_Missense_Mutation_p.L269V|BCAS3_uc002iyz.3_Missense_Mutation_p.L52V|BCAS3_uc002iza.3_Missense_Mutation_p.L52V NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 498 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTAGGGAAACTGAACAGCCA 0.448000 KIF19 124602 broad.mit.edu 37 17 72350375 72350375 + Missense_Mutation SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr17:72350375A>C uc002jkm.3 + 18 2521 c.2383A>C c.(2383-2385)ACC>CCC p.T795P NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 795 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GGCCCTGGGAACCGAGGGGCG 0.697000 SS18 6760 broad.mit.edu 37 18 23615079 23615079 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr18:23615079T>G uc002kvm.2 - 9 1064 c.986A>C c.(985-987)TAT>TCT p.Y329S SS18_uc002kvn.2_Missense_Mutation_p.Y298S|SS18_uc010xbf.1_Missense_Mutation_p.Y247S|SS18_uc010xbg.1_Missense_Mutation_p.Y246S|SS18_uc010xbh.1_Missense_Mutation_p.Y246S|SS18_uc010xbi.1_Missense_Mutation_p.Y306S|SS18_uc010dlz.1_Missense_Mutation_p.Y277S NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 329 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) CTGTTGGCCATACTGTGAATT 0.473000 T SSX1| SSX2 synovial sarcoma NARS 4677 broad.mit.edu 37 18 55268941 55268941 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr18:55268941C>A uc002lgs.2 - 14 1818 c.1590G>T c.(1588-1590)AGG>AGT p.R530S NARS_uc002lgt.2_Missense_Mutation_p.R529S|NARS_uc010xea.1_Missense_Mutation_p.R281S NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 530 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) GGATGTGATACCTATTCAGAA 0.428000 C19orf26 255057 broad.mit.edu 37 19 1235849 1235849 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:1235849G>T uc002lrm.2 - 3 431 c.156C>A c.(154-156)GGC>GGA p.G52G NM_152769 NP_689982 Q8N350 DOS_HUMAN downstream of Stk11 52 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCAGCGTGCCCCCCACGA 0.677000 HNSCC(14;0.022) C3 718 broad.mit.edu 37 19 6680225 6680225 + Missense_Mutation SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:6680225A>T uc002mfm.2 - 36 4462 c.4400T>A c.(4399-4401)TTT>TAT p.F1467Y C3_uc002mfl.2_Missense_Mutation_p.F203Y NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1467 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTCTACATTAAAGTATTGGTG 0.542000 C3 718 broad.mit.edu 37 19 6711199 6711199 + Silent SNP C C T rs138824784 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:6711199C>T uc002mfm.2 - 12 1340 c.1278G>A c.(1276-1278)ACG>ACA p.T426T NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 426 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCTGCTTCTTCGTGCGCACCT 0.423000 OR10H5 284433 broad.mit.edu 37 19 15905399 15905399 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:15905399G>A uc010xos.1 + 1 541 c.541G>A c.(541-543)GTG>ATG p.V181M NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTCTGCCACGTGCCACCTCT 0.582000 UNC13A 23025 broad.mit.edu 37 19 17737485 17737485 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:17737485C>T uc002nhd.2 - 34 4294 c.4294G>A c.(4294-4296)GCG>ACG p.A1432T NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1344 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 ACATTGTCCGCGTCCTGGGCC 0.617000 SF4 57794 broad.mit.edu 37 19 19414582 19414582 + Missense_Mutation SNP C C T rs150375001 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:19414582C>T uc002nmh.2 - 5 615 c.613G>A c.(613-615)GAG>AAG p.E205K SF4_uc002nmf.2_5'Flank|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_Intron NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 205 SURP motif 1. nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TTTTCTAACTCGGGGCCTCCT 0.527000 TSHZ3 57616 broad.mit.edu 37 19 31769042 31769042 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:31769042C>T uc002nsy.3 - 2 1722 c.1657G>A c.(1657-1659)GCC>ACC p.A553T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 553 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AGTTGGTAGGCGGCATGGATG 0.552000 DPY19L3 147991 broad.mit.edu 37 19 32930708 32930709 + Missense_Mutation DNP AT AT TA TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:32930708_32930709AT>TA uc002ntg.2 + 8 923_924 c.747_748AT>TA c.(745-750)ATATCA>ATTACA p.S250T DPY19L3_uc002nth.1_Missense_Mutation_p.S250T|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 250 Helical; (Potential). integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) CCATTTTCATATCAACTTTTCT 0.371000 SIPA1L3 23094 broad.mit.edu 37 19 38573359 38573359 + Missense_Mutation SNP C C T rs141710131 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:38573359C>T uc002ohk.2 + 3 1663 c.1154C>T c.(1153-1155)ACG>ATG p.T385M NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 385 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCTCCCTCACGGCCTCGCGG 0.692000 RYR1 6261 broad.mit.edu 37 19 38976356 38976356 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:38976356C>T uc002oit.2 + 34 5191 c.5061C>T c.(5059-5061)CAC>CAT p.H1687H RYR1_uc002oiu.2_Silent_p.H1687H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1687 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTGCAGCCACGTAGACCAAG 0.662000 ERF 2077 broad.mit.edu 37 19 42753352 42753352 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:42753352G>A uc002ote.3 - 4 1070 c.912C>T c.(910-912)TCC>TCT p.S304S ERF_uc002otd.3_Silent_p.S35S NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 304 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) CAGGGCTGAAGGAGAAGTGGG 0.677000 PPP2R1A 5518 broad.mit.edu 37 19 52714526 52714526 + Missense_Mutation SNP C C T rs148604195 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:52714526C>T uc002pyp.2 + 4 443 c.284C>T c.(283-285)TCG>TTG p.S95L PPP2R1A_uc010ydk.1_Missense_Mutation_p.S40L|PPP2R1A_uc010epm.1_Missense_Mutation_p.S135L|PPP2R1A_uc002pyq.2_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 95 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CCGCTGGAGTCGCTGGCCACA 0.627000 Mis clear cell ovarian carcinoma ZNF578 147660 broad.mit.edu 37 19 53014551 53014551 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:53014551G>A uc002pzp.3 + 6 1161 c.917G>A c.(916-918)CGT>CAT p.R306H NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 81 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ACATGCCATCGTAGATGTCAC 0.433000 ZNF331 55422 broad.mit.edu 37 19 54080995 54080995 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:54080995A>G uc002qbx.1 + 7 2615 c.1181A>G c.(1180-1182)TAT>TGT p.Y394C ZNF331_uc002qby.1_Missense_Mutation_p.Y394C|ZNF331_uc002qbz.1_Missense_Mutation_p.Y394C|ZNF331_uc002qca.1_Missense_Mutation_p.Y394C|ZNF331_uc010eqr.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcb.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcc.1_Missense_Mutation_p.Y394C|ZNF331_uc002qcd.1_Missense_Mutation_p.Y394C NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 394 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) GCTTTCATTTATGGATCGAGC 0.488000 T ? follicular thyroid adenoma KIR2DL4 3805 broad.mit.edu 37 19 55316320 55316320 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:55316320G>A uc010yfm.1 + 3 189 c.149G>A c.(148-150)CGG>CAG p.R50Q KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.R45Q|KIR2DL4_uc002qhg.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhi.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.R50Q|KIR2DL4_uc010ese.2_5'Flank NM_002255 NP_002246 Q99706 KI2L4_HUMAN killer cell immunoglobulin-like receptor, two 50 Ig-like C2-type 1.|Extracellular (Potential). cellular defense response|regulation of immune response integral to plasma membrane protein binding|transmembrane receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0192) GTGACTCTTCGGTGTCACTAT 0.547000 ZNF71 58491 broad.mit.edu 37 19 57133750 57133750 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:57133750G>C uc002qnm.3 + 3 1333 c.1095G>C c.(1093-1095)AAG>AAC p.K365N NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 365 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCTTCAGCAAGAACTCCTCGC 0.622000 ZNF264 9422 broad.mit.edu 37 19 57705342 57705342 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:57705342G>A uc002qob.2 + 2 546 c.133G>A c.(133-135)GAA>AAA p.E45K NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GGTGATGCTGGAAAACTGTGG 0.577000 PROKR1 10887 broad.mit.edu 37 2 68882420 68882420 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:68882420G>A uc010yqj.1 + 2 894 c.894G>A c.(892-894)GCG>GCA p.A298A PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 298 Helical; Name=6; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 TATGCTGGGCGCCCTTCTACG 0.592000 ANXA4 307 broad.mit.edu 37 2 70015260 70015260 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:70015260C>T uc002sfr.3 + 3 311 c.84C>T c.(82-84)GCC>GCT p.A28A ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Silent_p.A28A|ANXA4_uc010yqo.1_Intron NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 26 Annexin 1. anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 TGAGGAAGGCCATGAAAGGGC 0.537000 DYSF 8291 broad.mit.edu 37 2 71780317 71780317 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:71780317C>T uc002sie.2 + 20 2305 c.1929C>T c.(1927-1929)GAC>GAT p.D643D DYSF_uc010feg.2_Silent_p.D674D|DYSF_uc010feh.2_Silent_p.D629D|DYSF_uc002sig.3_Silent_p.D629D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.D643D|DYSF_uc010fef.2_Silent_p.D660D|DYSF_uc010fei.2_Silent_p.D660D|DYSF_uc010fek.2_Silent_p.D661D|DYSF_uc010fej.2_Silent_p.D630D|DYSF_uc010fel.2_Silent_p.D630D|DYSF_uc010feo.2_Silent_p.D675D|DYSF_uc010fem.2_Silent_p.D644D|DYSF_uc010fen.2_Silent_p.D661D|DYSF_uc002sif.2_Silent_p.D644D NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 643 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAGTCTTTGACGGTGAGGCAG 0.587000 DYSF 8291 broad.mit.edu 37 2 71825803 71825803 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:71825803C>T uc002sie.2 + 33 4006 c.3630C>T c.(3628-3630)ATC>ATT p.I1210I DYSF_uc010feg.2_Silent_p.I1241I|DYSF_uc010feh.2_Silent_p.I1196I|DYSF_uc002sig.3_Silent_p.I1196I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I1210I|DYSF_uc010fef.2_Silent_p.I1227I|DYSF_uc010fei.2_Silent_p.I1227I|DYSF_uc010fek.2_Silent_p.I1228I|DYSF_uc010fej.2_Silent_p.I1197I|DYSF_uc010fel.2_Silent_p.I1197I|DYSF_uc010feo.2_Silent_p.I1242I|DYSF_uc010fem.2_Silent_p.I1211I|DYSF_uc010fen.2_Silent_p.I1228I|DYSF_uc002sif.2_Silent_p.I1211I|DYSF_uc010yqy.1_Silent_p.I91I NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1210 Cytoplasmic (Potential).|C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AGATCGAGATCTTTGGCGAGC 0.582000 TSGA10 80705 broad.mit.edu 37 2 99636757 99636757 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:99636757C>T uc002szg.3 - 16 2431 c.1803G>A c.(1801-1803)TTG>TTA p.L601L TSGA10_uc002szh.3_Silent_p.L601L|TSGA10_uc002szi.3_Silent_p.L601L|TSGA10_uc010fin.1_Silent_p.L601L NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 601 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 TATTTTCTGCCAAACAAAGGT 0.308000 IL1F5 26525 broad.mit.edu 37 2 113818509 113818509 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:113818509T>C uc002tis.2 + 3 243 c.110T>C c.(109-111)ATT>ACT p.I37T IL1F5_uc002tit.2_Missense_Mutation_p.I37T NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN interleukin 1 family, member 5 37 extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 GGGAAGGTCATTAAAGGTTGG 0.473000 ZEB2 9839 broad.mit.edu 37 2 145157076 145157076 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:145157076G>A uc002tvu.2 - 8 2158 c.1678C>T c.(1678-1680)CGT>TGT p.R560C ZEB2_uc002tvv.2_Missense_Mutation_p.R554C|ZEB2_uc010zbm.1_Missense_Mutation_p.R531C|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.R589C NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 560 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTAAAGTACGTAGCTTCTCT 0.393000 SCN2A 6326 broad.mit.edu 37 2 166187901 166187901 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:166187901G>C uc002udc.2 + 14 2501 c.2211G>C c.(2209-2211)TTG>TTC p.L737F SCN2A_uc002udd.2_Missense_Mutation_p.L737F|SCN2A_uc002ude.2_Missense_Mutation_p.L737F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 737 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATATGTGTTTGATTTGGGACT 0.398000 SCN2A 6326 broad.mit.edu 37 2 166221688 166221688 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:166221688G>A uc002udc.2 + 18 3725 c.3435G>A c.(3433-3435)ACG>ACA p.T1145T SCN2A_uc002udd.2_Silent_p.T1145T|SCN2A_uc002ude.2_Silent_p.T1145T NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1145 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AAGGCAGCACGGTTGATATTG 0.363000 TTN 7273 broad.mit.edu 37 2 179581831 179581831 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:179581831C>G uc010zfg.1 - 85 22122 c.21898G>C c.(21898-21900)GGT>CGT p.G7300R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3961R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8227 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) CCTTGTACACCCAGCTGAGCA 0.458000 DNAH7 56171 broad.mit.edu 37 2 196877523 196877523 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:196877523G>C uc002utj.3 - 10 1078 c.977C>G c.(976-978)ACT>AGT p.T326S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 326 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTTAAGTAGAGTCTCTTTGGC 0.333000 ALS2 57679 broad.mit.edu 37 2 202626541 202626541 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:202626541T>C uc002uyo.2 - 4 532 c.176A>G c.(175-177)GAT>GGT p.D59G ALS2_uc002uyp.3_Missense_Mutation_p.D59G|ALS2_uc002uyq.2_Missense_Mutation_p.D59G|ALS2_uc002uyr.2_Missense_Mutation_p.D59G NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 59 RCC1 1. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 GACCTCACCATCTGAAGGTTa 0.358000 PTPRN 5798 broad.mit.edu 37 2 220168525 220168525 + Missense_Mutation SNP C C G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr2:220168525C>G uc002vkz.2 - 4 398 c.309G>C c.(307-309)CAG>CAC p.Q103H PTPRN_uc010zlc.1_Missense_Mutation_p.Q13H|PTPRN_uc002vla.2_Missense_Mutation_p.Q103H NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 103 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGATCACATACTGGGTGAGGT 0.572000 RBCK1 10616 broad.mit.edu 37 20 409672 409672 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:409672G>C uc002wdp.3 + 11 2079 c.1386G>C c.(1384-1386)TGG>TGC p.W462C RBCK1_uc002wdq.3_Missense_Mutation_p.W420C|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.W292C NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 462 IBR-type 2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) GCTGCGACTGGATCCGCTGCA 0.667000 RASSF2 9770 broad.mit.edu 37 20 4771170 4771170 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:4771170A>G uc002wld.2 - 6 518 c.464T>C c.(463-465)GTG>GCG p.V155A RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.V155A NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 155 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 AGGCGTCCTCACATTGCCACG 0.617000 SPTLC3 55304 broad.mit.edu 37 20 13098334 13098334 + Missense_Mutation SNP A A C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:13098334A>C uc002wod.1 + 8 1403 c.1114A>C c.(1114-1116)AGT>CGT p.S372R NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 372 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) ATTCACCAAAAGTTTTGGAGC 0.542000 CST2 1470 broad.mit.edu 37 20 23807102 23807102 + Missense_Mutation SNP G G A rs112783512 byFrequency TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:23807102G>A uc002wtq.1 - 1 211 c.196C>T c.(196-198)CGC>TGC p.R66C NM_001322 NP_001313 P09228 CYTT_HUMAN cystatin SA precursor 66 extracellular region cysteine-type endopeptidase inhibitor activity 0 CGCAGCAGGCGTCTGTAGTAC 0.557000 DYNLRB1 83658 broad.mit.edu 37 20 33122521 33122521 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:33122521G>A uc002xal.2 + 3 229 c.169G>A c.(169-171)GTG>ATG p.V57M DYNLRB1_uc010zuk.1_Missense_Mutation_p.V57M|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_RNA NM_014183 NP_054902 Q9NP97 DLRB1_HUMAN Roadblock-1 57 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity 0 ACGGAGCACCGTGCGTGACAT 0.547000 PTPRT 11122 broad.mit.edu 37 20 41100955 41100955 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:41100955G>A uc002xkg.2 - 8 1585 c.1401C>T c.(1399-1401)CCC>CCT p.P467P PTPRT_uc010ggj.2_Silent_p.P467P NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 467 Extracellular (Potential).|Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTCGGCCCTCGGGGTTAGACA 0.587000 SEMG1 6406 broad.mit.edu 37 20 43836661 43836661 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:43836661G>A uc002xni.2 + 2 780 c.723G>A c.(721-723)GCG>GCA p.A241A SEMG1_uc002xnj.2_Silent_p.A241A|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Silent_p.A241A NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 241 42 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TCTGTCCTGCGCACCAAGACA 0.378000 ZNF217 7764 broad.mit.edu 37 20 52192732 52192732 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr20:52192732G>A uc002xwq.3 - 3 2842 c.2571C>T c.(2569-2571)CCC>CCT p.P857P ZNF217_uc010gij.1_Silent_p.P849P NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 857 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ATTTTGTCTCGGGTCTTTTTG 0.532000 TPTE 7179 broad.mit.edu 37 21 10941947 10941947 + Silent SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr21:10941947T>C uc002yip.1 - 14 1124 c.756A>G c.(754-756)CCA>CCG p.P252P TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.P234P|TPTE_uc002yir.1_Silent_p.P214P|TPTE_uc010gkv.1_Silent_p.P114P NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 252 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCCAGAAGATGGAAATGACA 0.289000 KRTAP13-1 140258 broad.mit.edu 37 21 31768846 31768846 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr21:31768846C>T uc002yoa.2 + 1 455 c.442C>T c.(442-444)CGC>TGC p.R148C NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 148 intermediate filament ovary(1) 1 TGGATTCTGCCGCCCAACCTA 0.522000 SON 6651 broad.mit.edu 37 21 34924449 34924449 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr21:34924449G>A uc002yse.1 + 3 2961 c.2912G>A c.(2911-2913)AGG>AAG p.R971K SON_uc002ysb.1_Missense_Mutation_p.R971K|SON_uc002ysc.2_Missense_Mutation_p.R971K|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 971 11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AGACCCTACAGGATAGCACCC 0.468000 ZNF295 49854 broad.mit.edu 37 21 43413582 43413582 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr21:43413582C>A uc002zab.3 - 3 837 c.623G>T c.(622-624)TGG>TTG p.W208L ZNF295_uc002yzz.3_Missense_Mutation_p.W208L|ZNF295_uc002yzy.3_Missense_Mutation_p.W208L|ZNF295_uc002zaa.3_Missense_Mutation_p.W208L|ZNF295_uc010gov.1_Missense_Mutation_p.W208L|ZNF295_uc002zac.2_Missense_Mutation_p.W208L NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 208 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 ATCTTTCGGCCAACTCTTTTC 0.408000 PRMT2 3275 broad.mit.edu 37 21 48081793 48081793 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr21:48081793C>T uc002zjx.2 + 10 1356 c.1042C>T c.(1042-1044)CAG>TAG p.Q348* PRMT2_uc002zjy.2_Nonsense_Mutation_p.Q348*|PRMT2_uc010gqm.2_Nonsense_Mutation_p.Q246*|PRMT2_uc011aga.1_Intron|PRMT2_uc011agb.1_Intron|PRMT2_uc011agc.1_Intron|PRMT2_uc002zjz.1_3'UTR NM_206962 NP_996845 P55345 ANM2_HUMAN HMT1 hnRNP methyltransferase-like 1 348 developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity ovary(1) 1 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) CGTCCACTTCCAGAGCCTGCA 0.542000 PVALB 5816 broad.mit.edu 37 22 37209779 37209779 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr22:37209779G>T uc010gwz.2 - 3 245 c.215C>A c.(214-216)TCC>TAC p.S72Y PVALB_uc003apx.2_Missense_Mutation_p.S72Y NM_002854 NP_002845 P20472 PRVA_HUMAN parvalbumin 72 EF-hand 1. calcium ion binding skin(1) 1 GGCATCTGGGGAGAAGCCTTT 0.567000 CPNE9 151835 broad.mit.edu 37 3 9746659 9746659 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:9746659C>T uc003bsd.2 + 4 412 c.241C>T c.(241-243)CAA>TAA p.Q81* NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 81 C2 1. ovary(2) 2 Medulloblastoma(99;0.227) TGAGGAAAAGCAAAATCTGCG 0.602000 BRPF1 7862 broad.mit.edu 37 3 9788874 9788874 + Silent SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:9788874G>C uc003bse.2 + 14 3885 c.3486G>C c.(3484-3486)CTG>CTC p.L1162L BRPF1_uc003bsf.2_Silent_p.L1168L|BRPF1_uc003bsg.2_Silent_p.L1161L|BRPF1_uc011ati.1_Silent_p.L1067L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1162 PWWP. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GGACCAAGCTGGTTCCTCTGG 0.522000 CAPN7 23473 broad.mit.edu 37 3 15270563 15270563 + Missense_Mutation SNP C C T rs140855092 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:15270563C>T uc003bzn.2 + 8 1205 c.935C>T c.(934-936)ACC>ATC p.T312I NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 312 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 AAGTTAATTACCGGGTAAAAA 0.348000 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:41266113C>G uc010hia.1 + 4 266 c.110C>G c.(109-111)TCT>TGT p.S37C CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 37 S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498000 S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of ALS2CL 259173 broad.mit.edu 37 3 46718164 46718164 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:46718164C>T uc003cqa.1 - 18 2186 c.1996G>A c.(1996-1998)GAG>AAG p.E666K ALS2CL_uc003cpx.1_Missense_Mutation_p.E13K|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Missense_Mutation_p.E181K|ALS2CL_uc003cqb.1_Missense_Mutation_p.E666K|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 666 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCCTTGGGCTCCCGGTGCTGC 0.637000 DHX30 22907 broad.mit.edu 37 3 47888357 47888357 + Missense_Mutation SNP T T A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:47888357T>A uc003cru.2 + 11 2221 c.1795T>A c.(1795-1797)TTC>ATC p.F599I DHX30_uc003crt.2_Missense_Mutation_p.F560I|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 599 Helicase ATP-binding. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAATGAGCGCTTCTCCCGATA 0.592000 MITF 4286 broad.mit.edu 37 3 69988303 69988303 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:69988303A>G uc003dnz.2 + 4 753 c.637A>G c.(637-639)AAC>GAC p.N213D MITF_uc011bgb.1_Missense_Mutation_p.N161D|MITF_uc003doa.2_Missense_Mutation_p.N212D|MITF_uc003dob.2_Missense_Mutation_p.N197D|MITF_uc003dod.2_Missense_Mutation_p.N188D|MITF_uc003doe.2_Missense_Mutation_p.N106D|MITF_uc003dof.2_Missense_Mutation_p.N106D NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 213 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CCCAGGCATGAACACACATTC 0.428000 A melanoma Waardenburg syndrome type 2|Tietz syndrome MYH15 22989 broad.mit.edu 37 3 108195277 108195277 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:108195277G>A uc003dxa.1 - 13 1317 c.1260C>T c.(1258-1260)AAC>AAT p.N420N NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 420 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TAACATATTCGTTACCAACTT 0.358000 ZBBX 79740 broad.mit.edu 37 3 166960346 166960346 + Silent SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:166960346T>G uc003fep.2 - 20 2546 c.2223A>C c.(2221-2223)ACA>ACC p.T741T ZBBX_uc011bpc.1_Silent_p.T780T|ZBBX_uc003feq.2_Silent_p.T712T NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 741 intracellular zinc ion binding ovary(2) 2 TAAGGAAATCTGTGGAAATCT 0.358000 KLHL24 54800 broad.mit.edu 37 3 183368270 183368270 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:183368270C>A uc003flv.2 + 3 421 c.126C>A c.(124-126)TTC>TTA p.F42L KLHL24_uc003flw.2_Missense_Mutation_p.F42L|KLHL24_uc003flx.2_Missense_Mutation_p.F42L NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 42 axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TTTTTGACTTCTCTTCAGGAT 0.408000 EIF4A2 1974 broad.mit.edu 37 3 186504980 186504980 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr3:186504980T>C uc003fqs.2 + 8 875 c.836T>C c.(835-837)TTT>TCT p.F279S EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.F280S|EIF4A2_uc003fqv.2_Missense_Mutation_p.F184S|EIF4A2_uc003fqw.2_Missense_Mutation_p.F184S|EIF4A2_uc011bsb.1_Missense_Mutation_p.F152S|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 279 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GCTGTTATTTTTCTCAATACG 0.413000 T BCL6 NHL UGDH 7358 broad.mit.edu 37 4 39505505 39505505 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:39505505A>G uc003guk.1 - 11 1680 c.1364T>C c.(1363-1365)ATT>ACT p.I455T UGDH_uc011byp.1_Missense_Mutation_p.I358T|UGDH_uc003gul.1_Missense_Mutation_p.I388T NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 455 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) CTGGAAGCCAATGGTTTGTAG 0.308000 RBM47 54502 broad.mit.edu 37 4 40439969 40439969 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:40439969C>T uc003gvc.2 - 4 1652 c.942G>A c.(940-942)ACG>ACA p.T314T RBM47_uc003gvd.2_Silent_p.T314T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.T276T|RBM47_uc003gvg.1_Silent_p.T314T NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 314 RRM 3. nucleus nucleotide binding|RNA binding breast(3) 3 GCTTGGCCAGCGTGACCTCCA 0.662000 EPHA5 2044 broad.mit.edu 37 4 66509144 66509144 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:66509144C>A uc003hcy.2 - 2 376 c.183G>T c.(181-183)GTG>GTT p.V61V EPHA5_uc003hcx.2_5'UTR|EPHA5_uc003hcz.2_Silent_p.V61V|EPHA5_uc011cah.1_Silent_p.V61V|EPHA5_uc011cai.1_Silent_p.V61V|EPHA5_uc003hda.2_Silent_p.V61V NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 61 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCAATAAATTCACTGAAAAGA 0.294000 TSP Lung(17;0.13) FAT4 79633 broad.mit.edu 37 4 126372210 126372210 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:126372210C>A uc003ifj.3 + 9 10039 c.10039C>A c.(10039-10041)CAG>AAG p.Q3347K FAT4_uc011cgp.1_Missense_Mutation_p.Q1645K|FAT4_uc003ifi.1_Missense_Mutation_p.Q825K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3347 Cadherin 32.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAAGGGTTTCCAGATCAATAA 0.408000 FAT4 79633 broad.mit.edu 37 4 126411351 126411351 + Silent SNP G G A rs146914959 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:126411351G>A uc003ifj.3 + 17 13374 c.13374G>A c.(13372-13374)ACG>ACA p.T4458T FAT4_uc011cgp.1_Silent_p.T2699T|FAT4_uc003ifi.1_Silent_p.T1935T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4458 EGF-like 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACTCGCACACGGGAAGGACCT 0.627000 GLRB 2743 broad.mit.edu 37 4 158060076 158060076 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:158060076C>A uc003ipj.2 + 7 928 c.726C>A c.(724-726)AAC>AAA p.N242K NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 242 Extracellular (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AATATGGTAACTGTACAAAAT 0.308000 MARCH1 55016 broad.mit.edu 37 4 164506905 164506905 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr4:164506905C>T uc003iqs.1 - 6 1396 c.419G>A c.(418-420)CGG>CAG p.R140Q MARCH1_uc003iqr.1_Missense_Mutation_p.R123Q NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 140 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGTACCTTCCGGAGGGGTTT 0.453000 SDHA 6389 broad.mit.edu 37 5 256491 256491 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:256491G>A uc003jao.3 + 15 2066 c.1951G>A c.(1951-1953)GAG>AAG p.E651K SDHA_uc011clw.1_Missense_Mutation_p.E603K|SDHA_uc003jap.3_Missense_Mutation_p.E570K|SDHA_uc003jaq.3_Missense_Mutation_p.E426K|SDHA_uc003jar.3_Missense_Mutation_p.E245K NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 651 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) AACTTTGAACGAGGCTGACTG 0.428000 Familial_Paragangliomas SV2C 22987 broad.mit.edu 37 5 75587088 75587088 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:75587088G>A uc003kei.1 + 7 1314 c.1180G>A c.(1180-1182)GAA>AAA p.E394K NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 394 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGAGCTGATTGAAATTGAGAG 0.423000 YTHDC2 64848 broad.mit.edu 37 5 112868662 112868662 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:112868662C>T uc003kqn.2 + 5 945 c.762C>T c.(760-762)ATC>ATT p.I254I YTHDC2_uc010jce.1_Silent_p.I254I|YTHDC2_uc010jcf.1_5'UTR NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 254 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TGGCAGCTATCGCTGTGGCTG 0.408000 TCF7 6932 broad.mit.edu 37 5 133478792 133478792 + Splice_Site SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:133478792G>A uc003kyt.2 + 8 1222 c.1026_splice c.e8+1 p.Y342_splice TCF7_uc003kyu.1_Splice_Site_p.Y227_splice|TCF7_uc003kyv.2_Splice_Site_p.Y227_splice|TCF7_uc003kyw.2_Splice_Site_p.Y227_splice|TCF7_uc003kyx.2_Splice_Site_p.Y140_splice|TCF7_uc003kyy.2_Splice_Site_p.Y227_splice|TCF7_uc003kyz.2_Splice_Site_p.Y227_splice|TCF7_uc003kza.2_Splice_Site_p.Y227_splice|TCF7_uc003kzb.2_Splice_Site_p.Y156_splice|TCF7_uc010jdu.2_5'Flank NM_003202 NP_003193 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding 0 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGACAACTACGTGAGTGCCTA 0.587000 PCDHA9 9752 broad.mit.edu 37 5 140229470 140229470 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:140229470G>A uc003lhu.2 + 1 2114 c.1390G>A c.(1390-1392)GTG>ATG p.V464M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V464M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 464 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGTTCGTGAAGGAGAA 0.662000 PCDHA12 56137 broad.mit.edu 37 5 140256833 140256833 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:140256833G>A uc003lic.2 + 1 1903 c.1776G>A c.(1774-1776)GCG>GCA p.A592A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A592A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 592 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGGTGGCGAAAGTGCGCG 0.697000 PCDHB13 56123 broad.mit.edu 37 5 140595315 140595315 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:140595315G>A uc003lja.1 + 1 1807 c.1620G>A c.(1618-1620)GCG>GCA p.A540A NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCCCGGCGCTGAGCAGCG 0.697000 FGF1 2246 broad.mit.edu 37 5 141993608 141993608 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:141993608G>T uc003lmm.2 - 2 165 c.85C>A c.(85-87)CTC>ATC p.L29I FGF1_uc011dbi.1_Missense_Mutation_p.L29I|FGF1_uc003lmn.3_Missense_Mutation_p.L29I|FGF1_uc003lmp.3_Missense_Mutation_p.L29I|FGF1_uc003lmq.2_Missense_Mutation_p.L29I|FGF1_uc010jgj.2_Missense_Mutation_p.L29I|FGF1_uc003lmr.2_Missense_Mutation_p.L29I|FGF1_uc003lms.3_Missense_Mutation_p.L29I NM_001144892 NP_001138364 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) isoform 1 29 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding 0 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) CTACAGTAGAGGAGTTTGGGC 0.552000 FAT2 2196 broad.mit.edu 37 5 150891882 150891882 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:150891882C>T uc003lue.3 - 20 11762 c.11749G>A c.(11749-11751)GTG>ATG p.V3917M GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V524M NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3917 Extracellular (Potential).|Laminin G-like. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGTTGACCACGACAGCATCC 0.592000 SLIT3 6586 broad.mit.edu 37 5 168175345 168175345 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:168175345G>A uc003mab.2 - 20 2652 c.2232C>T c.(2230-2232)CGC>CGT p.R744R SLIT3_uc010jjg.2_Silent_p.R744R NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 744 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGGGAGGGCGCGGAGCCCCT 0.632000 GFPT2 9945 broad.mit.edu 37 5 179763495 179763495 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr5:179763495G>A uc003mlw.1 - 3 296 c.198C>T c.(196-198)CTC>CTT p.L66L NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 66 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GTTCTTCATCGAGAGCCTTGA 0.522000 KIAA0319 9856 broad.mit.edu 37 6 24559301 24559301 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:24559301G>A uc011djo.1 - 17 2911 c.2674C>T c.(2674-2676)CGG>TGG p.R892W KIAA0319_uc011djp.1_Missense_Mutation_p.R847W|KIAA0319_uc003neh.1_Missense_Mutation_p.R892W|KIAA0319_uc011djq.1_Missense_Mutation_p.R883W|KIAA0319_uc011djr.1_Missense_Mutation_p.R892W|KIAA0319_uc010jpt.1_Missense_Mutation_p.R303W NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 892 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TTTGAGAGCCGCATGTGCAGA 0.473000 DST 667 broad.mit.edu 37 6 56462620 56462620 + Missense_Mutation SNP T T C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:56462620T>C uc003pdf.2 - 41 5784 c.5756A>G c.(5755-5757)AAT>AGT p.N1919S DST_uc003pcz.3_Missense_Mutation_p.N1741S|DST_uc011dxj.1_Missense_Mutation_p.N1770S|DST_uc011dxk.1_Missense_Mutation_p.N1781S|DST_uc003pcy.3_Missense_Mutation_p.N1415S|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3827 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGGTTACCATTAACTTCATC 0.423000 KIAA1586 57691 broad.mit.edu 37 6 56919487 56919487 + Silent SNP A A T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:56919487A>T uc003pdj.2 + 4 2360 c.2190A>T c.(2188-2190)GTA>GTT p.V730V KIAA1586_uc011dxm.1_Silent_p.V703V NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 730 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) tagatcatgtatcagatttaa 0.085000 COL12A1 1303 broad.mit.edu 37 6 75797371 75797371 + Nonsense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:75797371G>A uc003phs.2 - 65 9269 c.9103C>T c.(9103-9105)CGA>TGA p.R3035* COL12A1_uc003pht.2_Nonsense_Mutation_p.R1871* NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 3035 Triple-helical region (COL1) with 2 imperfections. R -> Q (in Ref. 1; AAC51244). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGGGGTCCTCGGATACCTGAG 0.572000 TTK 7272 broad.mit.edu 37 6 80745071 80745071 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:80745071C>T uc003pjc.2 + 16 1935 c.1861C>T c.(1861-1863)CCA>TCA p.P621S TTK_uc003pjb.3_Missense_Mutation_p.P620S NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 621 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T621R(1) ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) ATCCATTGATCCATGGGAACG 0.328000 CYB5R4 51167 broad.mit.edu 37 6 84646074 84646074 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:84646074G>C uc003pkf.2 + 12 1219 c.1087G>C c.(1087-1089)GAG>CAG p.E363Q NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 363 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CTTCACACCAGAGCTTGATCG 0.259000 NCOA7 135112 broad.mit.edu 37 6 126249822 126249822 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:126249822G>A uc010kes.2 + 18 3183 c.2734G>A c.(2734-2736)GGA>AGA p.G912R NCOA7_uc003qae.3_Missense_Mutation_p.G912R|NCOA7_uc003qah.2_Missense_Mutation_p.G901R|NCOA7_uc003qai.2_Missense_Mutation_p.G912R|NCOA7_uc010ket.2_Missense_Mutation_p.G797R|NCOA7_uc003qak.2_Missense_Mutation_p.G189R NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 912 TLD. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TTTATACCACGGACGAAGCAA 0.358000 PERP 64065 broad.mit.edu 37 6 138413398 138413398 + Missense_Mutation SNP G G C TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:138413398G>C uc003qht.2 - 3 546 c.363C>G c.(361-363)TTC>TTG p.F121L NM_022121 NP_071404 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 121 Helical; (Potential). apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus 0 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) AGATGATCTGGAACACAGCTA 0.453000 SNX9 51429 broad.mit.edu 37 6 158296134 158296134 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:158296134G>A uc003qqv.1 + 4 399 c.226G>A c.(226-228)GAC>AAC p.D76N NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN sorting nexin 9 76 cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TTCAGTGGCTGACCAAGCCTT 0.463000 IGF2R 3482 broad.mit.edu 37 6 160526045 160526045 + Nonsense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:160526045C>T uc003qta.2 + 48 7553 c.7405C>T c.(7405-7407)CAG>TAG p.Q2469* NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 2469 Cytoplasmic (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CTCTGCACAGCAGAAGACAGT 0.597000 DNAH11 8701 broad.mit.edu 37 7 21598554 21598554 + Silent SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:21598554T>G uc003svc.2 + 3 661 c.630T>G c.(628-630)ACT>ACG p.T210T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 210 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTAGAAGAACTCTTCTACCAA 0.348000 Kartagener_syndrome TRIM50 135892 broad.mit.edu 37 7 72734221 72734221 + Silent SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:72734221G>T uc010lbd.1 - 3 545 c.420C>A c.(418-420)ATC>ATA p.I140I FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Silent_p.I140I|TRIM50_uc003txz.1_Silent_p.I140I NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 140 Potential. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 TCAGCTCAGAGATGAGGGCTG 0.587000 PCLO 27445 broad.mit.edu 37 7 82544530 82544530 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:82544530A>G uc003uhx.2 - 7 13061 c.12772T>C c.(12772-12774)TCT>CCT p.S4258P PCLO_uc003uhv.2_Missense_Mutation_p.S4258P|PCLO_uc010lec.2_Missense_Mutation_p.S1223P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4189 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAAGAGAAGATCCCATAAAT 0.438000 ABCB4 5244 broad.mit.edu 37 7 87074291 87074291 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:87074291C>A uc003uiv.1 - 10 1082 c.1006G>T c.(1006-1008)GTT>TTT p.V336F ABCB4_uc003uiw.1_Missense_Mutation_p.V336F|ABCB4_uc003uix.1_Missense_Mutation_p.V336F NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 336 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GAAAAAAAAACCTGAGCAAAA 0.353000 ABCB1 5243 broad.mit.edu 37 7 87174159 87174159 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:87174159G>A uc003uiz.1 - 17 2462 c.2044C>T c.(2044-2046)CTT>TTT p.L682F ABCB1_uc011khc.1_Missense_Mutation_p.L618F NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 682 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTGGTACTAAGCTTTCTGTCT 0.443000 KCND2 3751 broad.mit.edu 37 7 120387763 120387763 + Nonsense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:120387763G>T uc003vjj.1 + 6 2709 c.1744G>T c.(1744-1746)GAG>TAG p.E582* NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 582 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CAAAATGGAAGAGTGTGTTAA 0.353000 SMO 6608 broad.mit.edu 37 7 128846389 128846389 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:128846389G>A uc003vor.2 + 6 1505 c.1225G>A c.(1225-1227)GGC>AGC p.G409S SMO_uc003vos.2_Missense_Mutation_p.G84S NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 409 Helical; Name=5; (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 GGCCCCAATCGGCCTGGTGCT 0.577000 Mis skin basal cell CNTNAP2 26047 broad.mit.edu 37 7 147844745 147844745 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:147844745G>A uc003weu.1 + 17 3233 c.2717G>A c.(2716-2718)CGC>CAC p.R906H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 906 Laminin G-like 3.|Extracellular (Potential). R -> H. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGCAGATCCGCAAGGCCCCA 0.557000 HNSCC(39;0.1) ZNF746 155061 broad.mit.edu 37 7 149191094 149191094 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr7:149191094G>A uc003wfw.2 - 3 663 c.392C>T c.(391-393)ACG>ATG p.T131M ZNF746_uc010lpi.2_Missense_Mutation_p.T131M NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 131 KRAB. negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GGAGACCAGCGTCTCGTAGTT 0.507000 TUSC3 7991 broad.mit.edu 37 8 15601095 15601095 + Missense_Mutation SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr8:15601095C>T uc003wwt.2 + 8 1121 c.911C>T c.(910-912)TCG>TTG p.S304L TUSC3_uc003wwu.2_Missense_Mutation_p.S304L|TUSC3_uc003wwv.2_Missense_Mutation_p.S304L|TUSC3_uc003www.2_Missense_Mutation_p.S304L|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_3'UTR NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 304 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GCAGCAACTTCGAAAGGCGAT 0.378000 SULF1 23213 broad.mit.edu 37 8 70512983 70512983 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr8:70512983G>A uc010lza.1 + 9 1597 c.880G>A c.(880-882)GAG>AAG p.E294K SULF1_uc003xyd.2_Missense_Mutation_p.E294K|SULF1_uc003xye.2_Missense_Mutation_p.E294K|SULF1_uc003xyf.2_Missense_Mutation_p.E294K|SULF1_uc003xyg.2_Missense_Mutation_p.E294K|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 294 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGATTCTGTGGAGAGGGTAAG 0.443000 LRP12 29967 broad.mit.edu 37 8 105509670 105509670 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr8:105509670T>G uc003yma.2 - 5 1205 c.1110A>C c.(1108-1110)CAA>CAC p.Q370H LRP12_uc003ymb.2_Missense_Mutation_p.Q351H|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 370 Extracellular (Potential).|CUB 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACCCATCTACTTGGTAAGTAG 0.448000 CSMD3 114788 broad.mit.edu 37 8 113392635 113392635 + Missense_Mutation SNP T T G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr8:113392635T>G uc003ynu.2 - 38 6241 c.6082A>C c.(6082-6084)AAT>CAT p.N2028H CSMD3_uc003yns.2_Missense_Mutation_p.N1230H|CSMD3_uc003ynt.2_Missense_Mutation_p.N1988H|CSMD3_uc011lhx.1_Missense_Mutation_p.N1924H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2028 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATTGAAAATTTAGATACAGA 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) SVEP1 79987 broad.mit.edu 37 9 113234518 113234518 + Silent SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr9:113234518G>A uc010mtz.2 - 15 3022 c.2685C>T c.(2683-2685)ATC>ATT p.I895I SVEP1_uc010mua.1_Silent_p.I895I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 895 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TGGCATTGCCGATGCTTGTGG 0.443000 PAPPA 5069 broad.mit.edu 37 9 119097300 119097300 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr9:119097300C>T uc004bjn.2 + 13 3939 c.3558C>T c.(3556-3558)CCC>CCT p.P1186P PAPPA_uc011lxp.1_Silent_p.P881P|PAPPA_uc011lxq.1_Silent_p.P561P NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1186 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ACTTTGACCCCGTCACCCTGA 0.647000 PRRX2 51450 broad.mit.edu 37 9 132484623 132484623 + Missense_Mutation SNP G G T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr9:132484623G>T uc004byh.2 + 4 981 c.754G>T c.(754-756)GTG>TTG p.V252L NM_016307 NP_057391 Q99811 PRRX2_HUMAN paired related homeobox 2 252 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 Ovarian(14;0.00556) GGTGCCTACGGTGAACTGAAG 0.622000 LAMC3 10319 broad.mit.edu 37 9 133963174 133963174 + Missense_Mutation SNP G G A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr9:133963174G>A uc004caa.1 + 27 4545 c.4447G>A c.(4447-4449)GAG>AAG p.E1483K LAMC3_uc010mze.1_Missense_Mutation_p.E171K NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1483 Domain II and I.|Potential. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GAAGGACATCGAGACCTTGTC 0.602000 CACNA1B 774 broad.mit.edu 37 9 141016271 141016271 + Silent SNP C C T TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr9:141016271C>T uc004cog.2 + 46 6985 c.6840C>T c.(6838-6840)TTC>TTT p.F2280F CACNA1B_uc004coi.2_Silent_p.F1492F NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2280 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCTCACTTTCGAGGAGGCTG 0.652000 STARD8 9754 broad.mit.edu 37 X 67940949 67940949 + Missense_Mutation SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chrX:67940949C>A uc004dxa.2 + 8 2365 c.1993C>A c.(1993-1995)CTC>ATC p.L665I STARD8_uc004dxb.2_Missense_Mutation_p.L745I|STARD8_uc004dxc.3_Missense_Mutation_p.L665I NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 665 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CACCACTTTCCTCCAGATCTA 0.557000 DLG3 1741 broad.mit.edu 37 X 69719090 69719090 + Silent SNP C C A TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chrX:69719090C>A uc004dyi.1 + 15 2263 c.1935C>A c.(1933-1935)ATC>ATA p.I645I DLG3_uc004dyj.1_Silent_p.I340I|DLG3_uc011mpn.1_Silent_p.I193I NM_021120 NP_066943 Q92796 DLG3_HUMAN synapse-associated protein 102 isoform a 645 Guanylate kinase-like. axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity large_intestine(1)|pancreas(1) 2 Renal(35;0.156) ATGACCTGATCTCCGAATTTC 0.512000 ATP11C 286410 broad.mit.edu 37 X 138864763 138864763 + Missense_Mutation SNP A A G TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chrX:138864763A>G uc004faz.2 - 18 2003 c.1904T>C c.(1903-1905)GTT>GCT p.V635A ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.V635A NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 635 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ATCATCGAAAACTTTTTCCAT 0.333000 DTNBP1 84062 broad.mit.edu 37 6 15638038 15638039 + Splice_Site INS - - A rs140124163 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:15638037_15638038T>TA uc003nbm.3 - 4 351 c.162_splice c.e4-1 p.R54_splice DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 54 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TCCTCATACCTAAAAAAAAGCA 0.366 Hermansky-Pudlak syndrome DTNBP1 84062 broad.mit.edu 37 6 15638038 15638039 + Splice_Site INS - - A rs140124163 TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr6:15638037_15638038T>TA uc003nbm.3 - 4 351 c.162_splice c.e4-1 p.R54_splice DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 54 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TCCTCATACCTAAAAAAAAGCA 0.366 Hermansky-Pudlak syndrome ZNF701 55762 broad.mit.edu 37 19 53086371 53086371 + Frame_Shift_Del DEL A A - TCGA-CG-5727-01A-11D-1600-08 TCGA-CG-5727-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fd34ee1-9c24-4672-be2b-cf82c1ac6bc2 248d27c2-beda-4902-9cfb-97806336b105 g.chr19:53086370_53086370CA>C uc010ydn.2 + 4 1319 c.1256_1256CA>C c.(1255-1257)ccafs p.P419fs ZNF701_uc002pzs.2_Frame_Shift_Del_p.P353fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.P419fs NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GGAGAGAAACCATACAAATGT 0.398