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 USP48 84196 broad.mit.edu 37 1 22032676 22032676 + Missense_Mutation SNP G G A rs150117994 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:22032676G>A uc001bfb.2 - 18 2454 c.2216C>T c.(2215-2217)ACG>ATG p.T739M USP48_uc001bfa.2_Missense_Mutation_p.T277M|USP48_uc010odq.1_Missense_Mutation_p.T751M|USP48_uc009vqc.2_Missense_Mutation_p.T673M|USP48_uc001bfc.2_Missense_Mutation_p.T739M|USP48_uc001bfd.1_5'Flank NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 739 DUSP 3. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GAGGACATCCGTATCCTAGAA 0.338000 ZDHHC18 84243 broad.mit.edu 37 1 27176839 27176839 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:27176839C>T uc001bnb.2 + 4 789 c.694C>T c.(694-696)CGG>TGG p.R232W ZDHHC18_uc010ofh.1_Missense_Mutation_p.R97W NM_032283 NP_115659 Q9NUE0 ZDH18_HUMAN zinc finger, DHHC-type containing 18 232 DHHC-type. integral to membrane zinc ion binding 0 all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237) TGTGGGGAGACGGAACTATCG 0.577000 GPR3 2827 broad.mit.edu 37 1 27721178 27721178 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:27721178C>T uc001bod.2 + 2 971 c.876C>T c.(874-876)ATC>ATT p.I292I NM_005281 NP_005272 P46089 GPR3_HUMAN G protein-coupled receptor 3 292 Helical; Name=7; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane ovary(1) 1 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) ACTCCATGATCAACCCTATCA 0.557000 CSMD2 114784 broad.mit.edu 37 1 34238227 34238227 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:34238227T>C uc001bxn.1 - 13 1698 c.1669A>G c.(1669-1671)AAG>GAG p.K557E CSMD2_uc001bxm.1_Missense_Mutation_p.K597E NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 557 Sushi 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGATTGCCTTCTGTCCCACC 0.572000 INPP5B 3633 broad.mit.edu 37 1 38351367 38351367 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:38351367C>T uc001ccg.1 - 13 1356 c.1262G>A c.(1261-1263)CGA>CAA p.R421Q INPP5B_uc009vvk.1_Missense_Mutation_p.R362Q|INPP5B_uc001ccf.1_Missense_Mutation_p.R257Q|INPP5B_uc010oij.1_Intron NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 501 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAACTGCATTCGAGAACAAAT 0.507000 HIVEP3 59269 broad.mit.edu 37 1 42050416 42050416 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:42050416C>T uc001cgz.3 - 4 1266 c.53G>A c.(52-54)CGG>CAG p.R18Q HIVEP3_uc001cha.3_Missense_Mutation_p.R18Q|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 18 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CAGCCGCTTCCGGGGACTTCC 0.582000 SLC2A1 6513 broad.mit.edu 37 1 43393459 43393459 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:43393459G>T uc001cik.2 - 9 1620 c.1095C>A c.(1093-1095)TCC>TCA p.S365S NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 365 Extracellular (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TGCTCAGATAGGACATCCAGG 0.547000 C1orf168 199920 broad.mit.edu 37 1 57257958 57257958 + Silent SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:57257958C>A uc001cym.3 - 2 934 c.528G>T c.(526-528)GGG>GGT p.G176G C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.G176G NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 176 ovary(3)|skin(2) 5 CTGGAGTAAGCCCCATGCCTT 0.488000 CELSR2 1952 broad.mit.edu 37 1 109801247 109801247 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:109801247C>T uc001dxa.3 + 2 3565 c.3504C>T c.(3502-3504)AAC>AAT p.N1168N NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1168 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TGGTCTTCAACGTACAGCGGG 0.607000 SPAG17 200162 broad.mit.edu 37 1 118566057 118566057 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:118566057C>T uc001ehk.2 - 28 4007 c.3939G>A c.(3937-3939)AGG>AGA p.R1313R NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1313 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AATTGGGACTCCTGCTCACAG 0.423000 POLR3C 10623 broad.mit.edu 37 1 145608249 145608249 + Nonsense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:145608249G>A uc001eoh.2 - 4 609 c.448C>T c.(448-450)CGA>TGA p.R150* NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Nonsense_Mutation_p.R163*|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Nonsense_Mutation_p.R150* NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 150 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) TCTGCCAGTCGCACAAATGTG 0.498000 SF3B4 10262 broad.mit.edu 37 1 149895490 149895490 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:149895490T>A uc001etj.1 - 6 1270 c.1219A>T c.(1219-1221)ACT>TCT p.T407S SF3B4_uc001eti.1_Missense_Mutation_p.T171S|SF3B4_uc001etk.1_Missense_Mutation_p.T407S NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 407 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGCCGGGGAGTGGGTCTGGGT 0.602000 FLG 2312 broad.mit.edu 37 1 152277533 152277533 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:152277533G>A uc001ezu.1 - 3 9865 c.9829C>T c.(9829-9831)CGT>TGT p.R3277C NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3277 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) TCTGCGTGACGAGTGCCTGAT 0.602000 Ichthyosis ADAM15 8751 broad.mit.edu 37 1 155028289 155028289 + Silent SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:155028289C>G uc001fgr.1 + 7 737 c.636C>G c.(634-636)ACC>ACG p.T212T ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Silent_p.T196T|ADAM15_uc010peu.1_Silent_p.T229T|ADAM15_uc001fgt.1_Silent_p.T212T|ADAM15_uc010pev.1_Silent_p.T222T|ADAM15_uc001fgs.1_Silent_p.T212T|ADAM15_uc001fgu.1_Silent_p.T212T|ADAM15_uc001fgw.1_Silent_p.T212T|ADAM15_uc001fgv.1_Silent_p.T212T|ADAM15_uc001fgx.1_Silent_p.T212T|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 212 Extracellular (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TAACAGAGACCAAGACTGTGG 0.592000 ATP1A2 477 broad.mit.edu 37 1 160105320 160105320 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:160105320G>A uc001fvc.2 + 16 2344 c.2212G>A c.(2212-2214)GTC>ATC p.V738I ATP1A2_uc001fvb.2_Missense_Mutation_p.V738I|ATP1A2_uc001fvd.2_Missense_Mutation_p.V474I NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 738 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGCTCTGACGTCTCTAAGCA 0.597000 SLAMF1 6504 broad.mit.edu 37 1 160607204 160607204 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:160607204G>A uc001fwl.3 - 2 538 c.192C>T c.(190-192)GTC>GTT p.V64V SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Silent_p.V64V NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 64 Extracellular (Potential). interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTGCCATTGTGACGACAATGT 0.463000 OLFML2B 25903 broad.mit.edu 37 1 161954658 161954658 + Silent SNP G G A rs138789156 by1000genomes TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:161954658G>A uc001gbu.2 - 7 2011 c.1587C>T c.(1585-1587)TAC>TAT p.Y529Y OLFML2B_uc001gbt.2_Silent_p.Y12Y|OLFML2B_uc010pkq.1_Silent_p.Y530Y NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 529 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) AGTTGGTTACGTAAATCCGCT 0.527000 CEP350 9857 broad.mit.edu 37 1 180062030 180062030 + Missense_Mutation SNP A A G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:180062030A>G uc001gnt.2 + 34 7173 c.6790A>G c.(6790-6792)ACA>GCA p.T2264A CEP350_uc009wxl.2_Missense_Mutation_p.T2263A|CEP350_uc001gnv.2_Missense_Mutation_p.T399A|CEP350_uc001gnw.1_Missense_Mutation_p.T21A|CEP350_uc001gnx.1_Missense_Mutation_p.T21A NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2264 centrosome|nucleus|spindle ovary(4) 4 AATAGAGTATACAAAATTGAA 0.313000 HMCN1 83872 broad.mit.edu 37 1 186055473 186055473 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:186055473C>G uc001grq.1 + 58 9209 c.8980C>G c.(8980-8982)CCT>GCT p.P2994A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2994 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTTTCCACCTCCTGACCTCAG 0.418000 LGTN 1939 broad.mit.edu 37 1 206776401 206776401 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:206776401G>A uc001heh.2 - 6 897 c.688C>T c.(688-690)CAC>TAC p.H230Y LGTN_uc009xbw.2_Intron NM_006893 NP_008824 P41214 EIF2D_HUMAN ligatin 230 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CGTGCCTGGTGAACCTCCCCA 0.552000 TTC13 79573 broad.mit.edu 37 1 231056309 231056309 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:231056309G>A uc001huf.3 - 17 1961 c.1930C>T c.(1930-1932)CGG>TGG p.R644W TTC13_uc009xfi.2_Missense_Mutation_p.R591W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R591W|TTC13_uc009xfk.1_Missense_Mutation_p.R534W NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 644 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) AGGGCTTCCCGAACTTCCAGC 0.373000 RYR2 6262 broad.mit.edu 37 1 237886549 237886549 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:237886549T>C uc001hyl.1 + 74 10796 c.10676T>C c.(10675-10677)TTT>TCT p.F3559S RYR2_uc010pxz.1_Missense_Mutation_p.F514S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3559 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGTGCTTTTTCATCTTGAA 0.353000 RYR2 6262 broad.mit.edu 37 1 237961336 237961336 + Splice_Site SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:237961336G>A uc001hyl.1 + 97 14077 c.13957_splice c.e97-1 p.V4653_splice RYR2_uc010pyb.1_Splice_Site_p.V86_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATACCCCAAGGTTATGGATA 0.363000 ERCC6 2074 broad.mit.edu 37 10 50732109 50732109 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr10:50732109C>T uc001jhs.3 - 5 1521 c.1367G>A c.(1366-1368)GGA>GAA p.G456E PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G456E|PGBD3_uc001jhu.2_Missense_Mutation_p.G456E NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 456 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 ATCTTCATCTCCATCATCTCG 0.423000 Direct_reversal_of_damage|NER DCLRE1A 9937 broad.mit.edu 37 10 115608783 115608783 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr10:115608783C>T uc001law.2 - 2 2999 c.2081G>A c.(2080-2082)GGA>GAA p.G694E NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 694 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) TCTTGATCCTCCTACATTAGA 0.363000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function TCERG1L 256536 broad.mit.edu 37 10 132965080 132965080 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr10:132965080C>T uc001lkp.2 - 5 1011 c.925G>A c.(925-927)GAT>AAT p.D309N TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 309 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TTGTCTCCATCCCGGCTCTTC 0.577000 EPS8L2 64787 broad.mit.edu 37 11 724768 724768 + Missense_Mutation SNP T T G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:724768T>G uc001lqt.2 + 16 1746 c.1499T>G c.(1498-1500)CTG>CGG p.L500R EPS8L2_uc001lqu.2_Missense_Mutation_p.L500R|EPS8L2_uc010qwk.1_Missense_Mutation_p.L516R|EPS8L2_uc001lqv.2_Missense_Mutation_p.L455R|EPS8L2_uc001lqw.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqx.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqy.2_Missense_Mutation_p.L8R NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 500 SH3. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCAAGATCCTGTATGACTTC 0.597000 OR52R1 119695 broad.mit.edu 37 11 4825678 4825678 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:4825678G>C uc010qym.1 - 1 170 c.170C>G c.(169-171)ACT>AGT p.T57S NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCAAAACAAGTGTTATTATT 0.368000 HTATIP2 10553 broad.mit.edu 37 11 20403748 20403748 + Nonsense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:20403748G>T uc009yia.1 + 5 532 c.466G>T c.(466-468)GAA>TAA p.E156* HTATIP2_uc009yib.1_Nonsense_Mutation_p.E156*|HTATIP2_uc001mpx.2_Nonsense_Mutation_p.E190*|HTATIP2_uc001mpz.2_Nonsense_Mutation_p.E156* NM_006410 NP_006401 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa isoform 156 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity 0 CAAGGTTGAAGAATTAAAATT 0.338000 KIF18A 81930 broad.mit.edu 37 11 28098559 28098559 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:28098559C>G uc001msc.2 - 10 1602 c.1420G>C c.(1420-1422)GAA>CAA p.E474Q NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 474 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 attaCCTTTTCTACTTTGTCT 0.209000 GLYAT 10249 broad.mit.edu 37 11 58477536 58477536 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:58477536C>T uc001nnb.2 - 6 749 c.594G>A c.(592-594)GAG>GAA p.E198E NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 198 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GAATGCAGCGCTCAATGAATC 0.498000 CTSW 1521 broad.mit.edu 37 11 65649722 65649722 + Silent SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:65649722T>A uc001ogc.1 + 4 405 c.363T>A c.(361-363)TCT>TCA p.S121S CTSW_uc001ogb.1_Silent_p.S121S NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 121 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) AAATAAGGTCTGAAGAGCCAG 0.597000 FGF3 2248 broad.mit.edu 37 11 69625121 69625121 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:69625121G>A uc001oph.2 - 3 1163 c.672C>T c.(670-672)CAC>CAT p.H224H NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 224 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) AAGCCTGAACGTGAGAGGGCT 0.687000 CXCR5 643 broad.mit.edu 37 11 118764730 118764730 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:118764730C>T uc001pue.3 + 2 587 c.477C>T c.(475-477)CGC>CGT p.R159R CXCR5_uc001puf.2_Silent_p.R114R NM_001716 NP_001707 P32302 CXCR5_HUMAN Burkitt lymphoma receptor 1 isoform 1 159 Cytoplasmic (Potential). B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) ATGCCTACCGCCACCGCCGCC 0.612000 BCL9L 283149 broad.mit.edu 37 11 118772974 118772974 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:118772974G>A uc001pug.2 - 6 2443 c.1478C>T c.(1477-1479)CCG>CTG p.P493L BCL9L_uc009zal.2_Missense_Mutation_p.P488L NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 493 Pro-rich.|Necessary for interaction with CTNNB1 (By similarity). negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GTCCCCACCCGGGGGGTGCCC 0.622000 OR10G8 219869 broad.mit.edu 37 11 123900713 123900713 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr11:123900713G>A uc001pzp.1 + 1 384 c.384G>A c.(382-384)CCG>CCA p.P128P NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCAGTTACCCGCTCAGGTACA 0.557000 VWF 7450 broad.mit.edu 37 12 6103352 6103352 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:6103352C>T uc001qnn.1 - 37 6524 c.6274G>A c.(6274-6276)GGA>AGA p.G2092R VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2092 VWFD 4. 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) TCATTGGCTCCGTTCTCATCA 0.493000 FGD6 55785 broad.mit.edu 37 12 95602789 95602789 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:95602789T>C uc001tdp.3 - 2 2495 c.2271A>G c.(2269-2271)ATA>ATG p.I757M FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 757 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CGTACTCTGGTATTTCCTCAT 0.453000 BRAP 8315 broad.mit.edu 37 12 112119630 112119630 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:112119630T>A uc001tsn.3 - 3 448 c.254A>T c.(253-255)AAA>ATA p.K85I BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Missense_Mutation_p.K55I NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 85 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 CACTGTAGTTTTTAGTTCATC 0.383000 SRRM4 84530 broad.mit.edu 37 12 119592119 119592119 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:119592119G>A uc001txa.1 + 12 1755 c.1463G>A c.(1462-1464)CGG>CAG p.R488Q NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 488 Ser-rich.|Arg-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 CGGAGACGTCGGTCCTACTCG 0.672000 KNTC1 9735 broad.mit.edu 37 12 123087726 123087726 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:123087726C>T uc001ucv.2 + 48 5200 c.5037C>T c.(5035-5037)CTC>CTT p.L1679L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1679 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CCTGCTTACTCTCTATAGTCA 0.408000 FZD10 11211 broad.mit.edu 37 12 130647946 130647946 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr12:130647946C>T uc001uii.2 + 1 915 c.459C>T c.(457-459)AAC>AAT p.N153N uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 153 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CGCCCAACAACGGCTCGGACG 0.637000 KBTBD7 84078 broad.mit.edu 37 13 41768160 41768160 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr13:41768160C>T uc001uxw.1 - 1 543 c.234G>A c.(232-234)ACG>ACA p.T78T uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 78 BTB. protein binding ovary(1) 1 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) AGAGGCGACCCGTGCCAGGCC 0.612000 PCDH17 27253 broad.mit.edu 37 13 58207716 58207716 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr13:58207716G>A uc001vhq.1 + 1 1928 c.1036G>A c.(1036-1038)GAC>AAC p.D346N PCDH17_uc010aec.1_Missense_Mutation_p.D346N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 346 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGACCGCAACGACAATGCGCC 0.662000 MYCBP2 23077 broad.mit.edu 37 13 77785411 77785411 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr13:77785411G>A uc001vkf.2 - 24 3284 c.3193C>T c.(3193-3195)CTT>TTT p.L1065F MYCBP2_uc010aev.2_Missense_Mutation_p.L469F NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1065 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTATCAGAAGGCATTTAAAT 0.289000 GPC6 10082 broad.mit.edu 37 13 95050742 95050742 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr13:95050742G>A uc001vlt.2 + 8 1944 c.1312G>A c.(1312-1314)GAT>AAT p.D438N NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 438 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GATCATGAATGATGGGCTCAC 0.498000 MYO16 23026 broad.mit.edu 37 13 109475609 109475609 + Silent SNP C C T rs141132835 byFrequency TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr13:109475609C>T uc001vqt.1 + 9 1140 c.1014C>T c.(1012-1014)CCC>CCT p.P338P MYO16_uc010agk.1_Silent_p.P360P|MYO16_uc001vqu.1_Silent_p.P138P NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 338 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity p.P338T(1) ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ACGATCTTCCCGTACTGTCGA 0.428000 TEP1 7011 broad.mit.edu 37 14 20876371 20876371 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr14:20876371G>A uc001vxe.2 - 2 268 c.228C>T c.(226-228)TCC>TCT p.S76S TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.S76S NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 76 TEP1 N-terminal 3. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGTTCTCCAAGGAGAGGATGT 0.522000 FAM179B 23116 broad.mit.edu 37 14 45431744 45431744 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr14:45431744C>T uc001wvv.2 + 1 329 c.120C>T c.(118-120)GGC>GGT p.G40G FAM179B_uc001wvw.2_Silent_p.G40G|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.G40G|FAM179B_uc001wvu.2_Silent_p.G40G NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 40 binding skin(2)|upper_aerodigestive_tract(1) 3 GAGTTGGGGGCATTATGAGAG 0.602000 TRIM9 114088 broad.mit.edu 37 14 51561331 51561331 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr14:51561331C>T uc001wyx.3 - 1 1092 c.327G>A c.(325-327)CCG>CCA p.P109P TRIM9_uc001wyy.2_Silent_p.P109P|TRIM9_uc001wyz.3_Silent_p.P109P NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 109 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) AGTGGGTGGCCGGTGGCGGCA 0.711000 ADAM20 8748 broad.mit.edu 37 14 70991149 70991149 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr14:70991149C>T uc001xme.2 - 2 721 c.476G>A c.(475-477)TGC>TAC p.C159Y NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 109 C -> W (in Ref. 1; AAC52041). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ATGGTAGTAGCAGTCATCCTG 0.502000 UBE3A 7337 broad.mit.edu 37 15 25605639 25605639 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr15:25605639C>T uc001zaq.2 - 5 1653 c.1653G>A c.(1651-1653)TTG>TTA p.L551L uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.L528L|UBE3A_uc001zas.2_Silent_p.L548L|UBE3A_uc001zat.2_Silent_p.L528L NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 551 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ACTGCTTCTTCAAGTCTGCAG 0.363000 MYEF2 50804 broad.mit.edu 37 15 48451038 48451038 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr15:48451038C>T uc001zwi.3 - 7 923 c.799G>A c.(799-801)GAC>AAC p.D267N MYEF2_uc001zwj.3_Missense_Mutation_p.D267N|MYEF2_uc001zwl.2_Missense_Mutation_p.D107N NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 267 RRM 2. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CCATCTTTGTCTTCTTTAATA 0.383000 MPI 4351 broad.mit.edu 37 15 75183769 75183769 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr15:75183769G>A uc002azc.1 + 3 199 c.194G>A c.(193-195)CGC>CAC p.R65H MPI_uc010ulv.1_Missense_Mutation_p.R65H|MPI_uc010ulw.1_Missense_Mutation_p.R15H|MPI_uc002azd.1_Missense_Mutation_p.R65H|MPI_uc010ulx.1_Missense_Mutation_p.R15H|MPI_uc002aze.1_Missense_Mutation_p.R65H NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 65 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 CTTGACAACCGCATCTCACAG 0.552000 C15orf42 90381 broad.mit.edu 37 15 90169262 90169262 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr15:90169262A>T uc002boe.2 + 21 5572 c.5572A>T c.(5572-5574)ACA>TCA p.T1858S C15orf42_uc010upv.1_RNA NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1858 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCAGGGGAAAACACCTTCCTC 0.577000 TRAF7 84231 broad.mit.edu 37 16 2226124 2226124 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr16:2226124C>T uc002cow.2 + 19 1920 c.1821C>T c.(1819-1821)GTC>GTT p.V607V NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 607 WD 6. activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCCTGGCGGTCATCTCGACGC 0.667000 NAGPA 51172 broad.mit.edu 37 16 5077160 5077160 + Missense_Mutation SNP G G A rs145106222 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr16:5077160G>A uc002cyg.2 - 9 1337 c.1316C>T c.(1315-1317)GCG>GTG p.A439V NAGPA_uc010buc.2_Missense_Mutation_p.A136V|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.A214V NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 439 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) GAGTTCTCCCGCCCTCAGGGT 0.622000 MAZ 4150 broad.mit.edu 37 16 29818144 29818144 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr16:29818144C>G uc002dty.2 + 1 290 c.122C>G c.(121-123)CCC>CGC p.P41R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Missense_Mutation_p.P18R|MAZ_uc010vdx.1_Missense_Mutation_p.P18R|MAZ_uc002dtw.2_Missense_Mutation_p.P41R|MAZ_uc002dtx.2_Missense_Mutation_p.P41R|MAZ_uc010bzg.2_Missense_Mutation_p.P41R|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank NM_002383 NP_002374 P56270 MAZ_HUMAN MYC-associated zinc finger protein isoform 1 41 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 GCCCAGAACCCCCTGCAGGTC 0.617000 MVD 4597 broad.mit.edu 37 16 88722698 88722698 + Missense_Mutation SNP G G A rs143689631 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr16:88722698G>A uc002flg.1 - 5 425 c.418C>T c.(418-420)CGT>TGT p.R140C MVD_uc002flf.1_Missense_Mutation_p.R9C NM_002461 NP_002452 P53602 MVD1_HUMAN diphosphomevalonate decarboxylase 140 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCGTAGACACGGGCCAGGGTG 0.667000 POLR2A 5430 broad.mit.edu 37 17 7416391 7416391 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:7416391G>A uc002ghf.3 + 29 5042 c.4808G>A c.(4807-4809)CGC>CAC p.R1603H NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1603 2; approximate.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) TACGAGCCCCGCTCTCCTGGG 0.582000 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and 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.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) SLFN5 162394 broad.mit.edu 37 17 33591890 33591890 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:33591890C>T uc002hjf.3 + 4 1944 c.1827C>T c.(1825-1827)ATC>ATT p.I609I SLFN5_uc010wcg.1_Intron NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 609 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TTCTCTACATCTGTGAAAACC 0.448000 SLFN12 55106 broad.mit.edu 37 17 33749495 33749495 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:33749495A>T uc002hji.3 - 2 930 c.553T>A c.(553-555)TTT>ATT p.F185I SLFN12_uc002hjj.3_Missense_Mutation_p.F185I|SLFN12_uc010cts.2_Missense_Mutation_p.F185I NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTTCTATCAAAAAAAACCCCG 0.373000 GAS2L2 246176 broad.mit.edu 37 17 34073428 34073428 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:34073428C>T uc002hjv.1 - 6 1116 c.1088G>A c.(1087-1089)TGC>TAC p.C363Y NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 363 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTCTCCTGGCACCTGAAAGG 0.592000 MMP28 79148 broad.mit.edu 37 17 34100224 34100224 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:34100224C>T uc002hjy.1 - 6 824 c.565G>A c.(565-567)GAC>AAC p.D189N MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 189 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCGTTGTGGTCCCCTTGGAAG 0.637000 TAF15 8148 broad.mit.edu 37 17 34171858 34171858 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:34171858C>T uc002hkd.2 + 15 1641 c.1555C>T c.(1555-1557)CGA>TGA p.R519* TAF15_uc002hkc.2_Nonsense_Mutation_p.R516* NM_139215 NP_631961 Q92804 RBP56_HUMAN TBP-associated factor 15 isoform 1 519 Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) bone(33)|lung(1)|skin(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) tggaggagatcgaggaggcta 0.259000 T TEC|CHN1|ZNF384 extraskeletal myxoid chondrosarcomas|ALL LYZL6 57151 broad.mit.edu 37 17 34263807 34263807 + Missense_Mutation SNP A A C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:34263807A>C uc002hkj.1 - 3 479 c.329T>G c.(328-330)ATC>AGC p.I110S LYZL6_uc002hkk.1_Missense_Mutation_p.I110S NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 110 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCGCAGTGGATGCCTGCAAG 0.577000 STARD3 10948 broad.mit.edu 37 17 37815008 37815008 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:37815008G>T uc002hsd.2 + 7 705 c.581G>T c.(580-582)GGA>GTA p.G194V STARD3_uc010weg.1_3'UTR|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.G176V|STARD3_uc010wei.1_Missense_Mutation_p.G194V|STARD3_uc002hsf.2_Missense_Mutation_p.G60V|STARD3_uc002hsg.2_Intron NM_006804 NP_006795 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain 194 MENTAL.|Cytoplasmic (Potential). cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GTTGCCCGTGGACCCCTGCTG 0.627000 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) KRT38 8687 broad.mit.edu 37 17 39596697 39596697 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:39596697C>T uc002hwq.1 - 1 900 c.477G>A c.(475-477)GAG>GAA p.E159E NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 159 Rod.|Coil 1B. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GTTGGAGCTCCTCGATGGTGT 0.567000 HDAC5 10014 broad.mit.edu 37 17 42171083 42171083 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:42171083G>A uc002ifd.1 - 4 425 c.214C>T c.(214-216)CGG>TGG p.R72W HDAC5_uc002ife.1_Missense_Mutation_p.R72W|HDAC5_uc002iff.1_Missense_Mutation_p.R73W|HDAC5_uc010czp.1_Missense_Mutation_p.R72W|HDAC5_uc002ifh.2_Missense_Mutation_p.R72W NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 72 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) tgctgctcccgcAGTGTGGGG 0.438000 TBKBP1 9755 broad.mit.edu 37 17 45776813 45776813 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:45776813C>T uc002ilu.2 + 5 1611 c.762C>T c.(760-762)TGC>TGT p.C254C NM_014726 NP_055541 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 254 Potential. innate immune response 0 AGGCCGAGTGCGAGCGGCTGC 0.701000 OREG0024498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ABCA5 23461 broad.mit.edu 37 17 67280173 67280173 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:67280173G>T uc002jif.2 - 17 3531 c.2313C>A c.(2311-2313)GTC>GTA p.V771V ABCA5_uc002jic.2_5'UTR|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.V771V|ABCA5_uc002jih.2_Silent_p.V771V|ABCA5_uc010dfe.2_Silent_p.V771V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 771 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) CATAAGAAATGACACCCAAAT 0.303000 GGA3 23163 broad.mit.edu 37 17 73235959 73235959 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:73235959G>A uc002jni.1 - 13 1503 c.1494C>T c.(1492-1494)CCC>CCT p.P498P GGA3_uc002jnj.1_Silent_p.P465P|GGA3_uc010wrw.1_Silent_p.P376P|GGA3_uc002jnk.1_Silent_p.P426P|GGA3_uc010wrx.1_Silent_p.P376P|GGA3_uc010wry.1_Silent_p.P426P NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 498 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CAGGGACTGCGGGCTCAACTT 0.617000 EVPL 2125 broad.mit.edu 37 17 74003189 74003189 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr17:74003189G>A uc002jqi.2 - 22 6325 c.6097C>T c.(6097-6099)CGC>TGC p.R2033C EVPL_uc010wss.1_Missense_Mutation_p.R2055C|EVPL_uc010wst.1_Missense_Mutation_p.R1503C NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 2033 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CCGTGTCAGCGAAGGGAGCGC 0.677000 THOC1 9984 broad.mit.edu 37 18 265478 265478 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr18:265478G>A uc002kkj.3 - 2 147 c.107C>T c.(106-108)ACC>ATC p.T36I THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.T36I NM_005131 NP_005122 Q96FV9 THOC1_HUMAN THO complex 1 36 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding ovary(1) 1 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CTGGCTGAAGGTACTTAACAA 0.343000 ASXL3 80816 broad.mit.edu 37 18 31324706 31324706 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr18:31324706G>A uc010dmg.1 + 12 4949 c.4894G>A c.(4894-4896)GAA>AAA p.E1632K ASXL3_uc002kxq.2_Missense_Mutation_p.E1339K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TAAACAAAAAGAATATCTAGA 0.428000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PIK3C3 5289 broad.mit.edu 37 18 39575919 39575919 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr18:39575919C>T uc002lap.2 + 8 910 c.852C>T c.(850-852)CAC>CAT p.H284H PIK3C3_uc010xcl.1_Silent_p.H221H NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 284 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CTTCTGACCACGATCTGAAAC 0.343000 TSP Lung(28;0.18) CASP14 23581 broad.mit.edu 37 19 15166303 15166303 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:15166303T>A uc010dzv.1 + 6 891 c.583T>A c.(583-585)TTC>ATC p.F195I CASP14_uc002naf.2_Missense_Mutation_p.F195I NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 195 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.F195Y(1) skin(2)|ovary(1)|lung(1) 4 GGTGGATGTGTTCACGAAGAG 0.542000 ZNF99 7652 broad.mit.edu 37 19 22940729 22940729 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:22940729G>T uc010xrh.1 - 5 1709 c.1709C>A c.(1708-1710)TCC>TAC p.S570Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGGTGTGAGGACCACTTAAA 0.378000 PSG5 5673 broad.mit.edu 37 19 43680066 43680066 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:43680066C>T uc002ovu.2 - 3 796 c.665G>A c.(664-666)CGA>CAA p.R222Q PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.R222Q|PSG5_uc002ovv.2_Missense_Mutation_p.R315Q|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 222 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) GCCACCATCTCGGTCCCGTAT 0.493000 GEMIN7 79760 broad.mit.edu 37 19 45593700 45593700 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:45593700C>T uc002pap.1 + 3 479 c.328C>T c.(328-330)CCC>TCC p.P110S uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.P110S|GEMIN7_uc002par.1_Missense_Mutation_p.P110S NM_001007270 NP_001007271 Q9H840 GEMI7_HUMAN gemin 7 110 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) GCTGCAGACTCCCATAGGTGT 0.517000 RTN2 6253 broad.mit.edu 37 19 45997638 45997638 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:45997638G>A uc002pcb.2 - 4 828 c.600C>T c.(598-600)CCC>CCT p.P200P RTN2_uc002pcc.2_Silent_p.P200P|RTN2_uc002pcd.2_RNA NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 200 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TCAAGACCTCGGGCGATGAGG 0.617000 CABP5 56344 broad.mit.edu 37 19 48543884 48543884 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:48543884G>A uc002phu.1 - 3 341 c.216C>T c.(214-216)CTC>CTT p.L72L NM_019855 NP_062829 Q9NP86 CABP5_HUMAN calcium binding protein 5 72 EF-hand 2. signal transduction cytoplasm calcium ion binding skin(1) 1 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TTTGCTGGCCGAGCTCAATCA 0.532000 DKKL1 27120 broad.mit.edu 37 19 49867939 49867939 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:49867939C>T uc002pnk.2 + 2 325 c.111C>T c.(109-111)GAC>GAT p.D37D TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank NM_014419 NP_055234 Q9UK85 DKKL1_HUMAN dickkopf-like 1 precursor 37 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity 0 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) ATGATGCTGACGCCCAAGAGA 0.627000 PRR12 57479 broad.mit.edu 37 19 50103130 50103130 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:50103130C>T uc002poo.3 + 5 4280 c.4280C>T c.(4279-4281)GCG>GTG p.A1427V NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 606 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TTGGCCCCCGCGGCTGCAGTT 0.662000 ZNF578 147660 broad.mit.edu 37 19 53015310 53015310 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:53015310G>A uc002pzp.3 + 6 1920 c.1676G>A c.(1675-1677)AGA>AAA p.R559K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 334 C2H2-type 12. 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) AACCATACTAGAATTCATAGC 0.393000 ZNF583 147949 broad.mit.edu 37 19 56925784 56925784 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:56925784G>A uc010ygl.1 + 4 372 c.207G>A c.(205-207)AAG>AAA p.K69K ZNF583_uc002qnc.2_Silent_p.K69K|ZNF583_uc010ygm.1_Silent_p.K69K NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TGGTGAAGAAGGAGGGAACAA 0.448000 ZNF211 10520 broad.mit.edu 37 19 58152366 58152366 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr19:58152366C>T uc002qpq.2 + 3 692 c.512C>T c.(511-513)TCG>TTG p.S171L ZNF211_uc010yhb.1_Missense_Mutation_p.S175L|ZNF211_uc002qpp.2_Missense_Mutation_p.S184L|ZNF211_uc002qpr.2_Missense_Mutation_p.S235L|ZNF211_uc002qps.2_Missense_Mutation_p.S236L|ZNF211_uc002qpt.2_Missense_Mutation_p.S183L|ZNF211_uc010yhc.1_Missense_Mutation_p.S183L|ZNF211_uc010yhd.1_Missense_Mutation_p.S110L|ZNF211_uc010yhe.1_Missense_Mutation_p.S162L NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 171 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GACACTGCCTCGTTTACACAG 0.468000 TSSC1 7260 broad.mit.edu 37 2 3196198 3196198 + Missense_Mutation SNP G G A rs141014675 by1000genomes TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:3196198G>A uc002qxj.2 - 8 1169 c.976C>T c.(976-978)CGT>TGT p.R326C TSSC1_uc002qxi.2_RNA NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 326 protein binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) TCTTCAGAACGGTGGTCCTCC 0.567000 PLB1 151056 broad.mit.edu 37 2 28785965 28785965 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:28785965C>T uc002rmb.1 + 18 1205 c.1205C>T c.(1204-1206)ACG>ATG p.T402M PLB1_uc010ezj.1_Missense_Mutation_p.T413M|PLB1_uc002rmc.2_Missense_Mutation_p.T90M NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 402 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GACTCTCTCACGGTAAGTGAC 0.502000 SLC30A6 55676 broad.mit.edu 37 2 32399183 32399183 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:32399183C>T uc002roe.1 + 3 179 c.142C>T c.(142-144)CTG>TTG p.L48L SLC30A6_uc002rof.1_Silent_p.L48L|SLC30A6_uc010ymw.1_Silent_p.L19L|SLC30A6_uc010ezr.1_Silent_p.L48L|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_Intron NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 48 Helical; (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TACTGGCTTCCTGCTTATGTG 0.318000 FSHR 2492 broad.mit.edu 37 2 49195900 49195900 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:49195900A>T uc002rww.2 - 9 865 c.791T>A c.(790-792)CTC>CAC p.L264H FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.L238H NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 264 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GGCTTCCATGAGGGCGACAAG 0.502000 Gonadal_Dysgenesis_46_XX NCAPH 23397 broad.mit.edu 37 2 97031660 97031660 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:97031660C>T uc002svz.1 + 14 1829 c.1745C>T c.(1744-1746)CCT>CTT p.P582L NCAPH_uc010fhv.1_Missense_Mutation_p.P571L|NCAPH_uc010yum.1_Missense_Mutation_p.P558L|NCAPH_uc010fhw.1_Missense_Mutation_p.P571L|NCAPH_uc010yun.1_Missense_Mutation_p.P446L|NCAPH_uc002swa.1_Missense_Mutation_p.P177L NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 582 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) TTTGTGGGACCTGTTGGGAAC 0.488000 TBC1D8 11138 broad.mit.edu 37 2 101654162 101654162 + Silent SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:101654162G>C uc010fiv.2 - 8 1370 c.1239C>G c.(1237-1239)CTC>CTG p.L413L TBC1D8_uc010yvw.1_Silent_p.L428L|TBC1D8_uc002tau.3_Silent_p.L170L NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 413 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 AATGAAACACGAGTGAAGCCT 0.468000 MAP4K4 9448 broad.mit.edu 37 2 102505356 102505356 + Missense_Mutation SNP A A G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:102505356A>G uc002tbg.2 + 29 3650 c.3595A>G c.(3595-3597)AGG>GGG p.R1199G MAP4K4_uc002tbc.2_Missense_Mutation_p.R1280G|MAP4K4_uc002tbd.2_Missense_Mutation_p.R1172G|MAP4K4_uc002tbe.2_Missense_Mutation_p.R1126G|MAP4K4_uc002tbf.2_Missense_Mutation_p.R1233G|MAP4K4_uc010yvy.1_Missense_Mutation_p.R1195G|MAP4K4_uc002tbh.2_Missense_Mutation_p.R1125G|MAP4K4_uc002tbi.2_Missense_Mutation_p.R1002G|MAP4K4_uc010yvz.1_Missense_Mutation_p.R1239G|MAP4K4_uc002tbk.2_Missense_Mutation_p.R654G|MAP4K4_uc002tbl.2_Missense_Mutation_p.R385G NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 1199 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CATGCACAAAAGGGCTCAAAG 0.403000 SULT1C4 27233 broad.mit.edu 37 2 108999963 108999963 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:108999963G>A uc002tea.1 + 5 985 c.612G>A c.(610-612)AAG>AAA p.K204K SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.K129K NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 204 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 AGGACATGAAGAAGGTGAGCA 0.478000 BUB1 699 broad.mit.edu 37 2 111399257 111399257 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:111399257C>G uc002tgc.2 - 21 2699 c.2587G>C c.(2587-2589)GTA>CTA p.V863L BUB1_uc010yxh.1_Missense_Mutation_p.V843L|BUB1_uc010fkb.2_Missense_Mutation_p.V863L NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 863 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CCTACTAATACACTGCCATTC 0.373000 RAB3GAP1 22930 broad.mit.edu 37 2 135848643 135848643 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:135848643C>T uc002tuj.2 + 4 251 c.226C>T c.(226-228)CAT>TAT p.H76Y RAB3GAP1_uc010fnf.2_Missense_Mutation_p.H76Y|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 76 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) CTCAGTCACTCATCATTATCT 0.328000 LCT 3938 broad.mit.edu 37 2 136575399 136575399 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:136575399C>G uc002tuu.1 - 6 1230 c.1219G>C c.(1219-1221)GGG>CGG p.G407R NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 407 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGCTCACCCCTCTCCCACCC 0.617000 LRP1B 53353 broad.mit.edu 37 2 141459402 141459402 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:141459402G>A uc002tvj.1 - 40 7287 c.6315C>T c.(6313-6315)AAC>AAT p.N2105N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2105 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGACAGACCCGTTTGCATGTG 0.428000 TSP Lung(27;0.18) GPR155 151556 broad.mit.edu 37 2 175346609 175346609 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:175346609G>T uc002uit.2 - 3 467 c.76C>A c.(76-78)CAT>AAT p.H26N GPR155_uc002uiu.2_Missense_Mutation_p.H26N|GPR155_uc002uiv.2_Missense_Mutation_p.H26N|GPR155_uc010fqs.2_Missense_Mutation_p.H26N NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 26 intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 TTAAATCCATGCGTTACTGCT 0.418000 TTN 7273 broad.mit.edu 37 2 179410279 179410279 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:179410279C>T uc010zfg.1 - 293 88078 c.87854G>A c.(87853-87855)CGC>CAC p.R29285H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22980H|TTN_uc010zfi.1_Missense_Mutation_p.R22913H|TTN_uc010zfj.1_Missense_Mutation_p.R22788H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30212 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) ACGTGTCCAGCGCAGGCTCTT 0.488000 TTN 7273 broad.mit.edu 37 2 179456552 179456552 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:179456552C>T uc010zfg.1 - 252 52514 c.52290G>A c.(52288-52290)TGG>TGA p.W17430* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W11125*|TTN_uc010zfi.1_Nonsense_Mutation_p.W11058*|TTN_uc010zfj.1_Nonsense_Mutation_p.W10933* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18357 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) CCGGCTTATTCCAGACTAGGG 0.433000 TTN 7273 broad.mit.edu 37 2 179489303 179489303 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:179489303C>T uc010zfg.1 - 191 37224 c.37000G>A c.(37000-37002)GCT>ACT p.A12334T TTN_uc010zfh.1_Missense_Mutation_p.A6029T|TTN_uc010zfi.1_Missense_Mutation_p.A5962T|TTN_uc010zfj.1_Missense_Mutation_p.A5837T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13261 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) CTGCCATCAGCAACAATTTCA 0.398000 NCKAP1 10787 broad.mit.edu 37 2 183846105 183846105 + Splice_Site SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:183846105C>T uc002upc.2 - 13 1611 c.1209_splice c.e13-1 p.K403_splice NCKAP1_uc002upb.2_Splice_Site_p.K409_splice NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGCAATGTGCCTTTTTTAAAA 0.289000 ITGAV 3685 broad.mit.edu 37 2 187490295 187490295 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:187490295G>T uc002upq.2 + 4 780 c.504G>T c.(502-504)GAG>GAT p.E168D ITGAV_uc010frs.2_Missense_Mutation_p.E168D|ITGAV_uc010zfv.1_Missense_Mutation_p.E122D NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 168 FG-GAP 2.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AGACTGTTGAGTATGCTCCAT 0.388000 OBSL1 23363 broad.mit.edu 37 2 220421289 220421289 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:220421289G>A uc010fwk.2 - 13 4280 c.4223C>T c.(4222-4224)GCC>GTC p.A1408V OBSL1_uc002vmh.1_Missense_Mutation_p.A307V|OBSL1_uc010zli.1_Missense_Mutation_p.A215V|OBSL1_uc010fwl.1_Missense_Mutation_p.A883V NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1408 Ig-like 12. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACCATTCTGGGCCATCTCCAC 0.637000 HJURP 55355 broad.mit.edu 37 2 234750099 234750099 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr2:234750099G>A uc002vvg.2 - 8 1393 c.1327C>T c.(1327-1329)CGG>TGG p.R443W HJURP_uc010znd.1_Missense_Mutation_p.R382W|HJURP_uc010zne.1_Missense_Mutation_p.R351W NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 443 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) CAATATTCCCGATGAAGCTGA 0.527000 FAM110A 83541 broad.mit.edu 37 20 826057 826057 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:826057C>T uc002wef.1 + 2 946 c.610C>T c.(610-612)CGC>TGC p.R204C FAM110A_uc002weg.1_Missense_Mutation_p.R204C|FAM110A_uc002weh.1_Missense_Mutation_p.R204C|FAM110A_uc010fzz.2_RNA NM_001042353 NP_001035812 Q9BQ89 F110A_HUMAN hypothetical protein LOC83541 204 microtubule organizing center|spindle pole protein binding 0 TGATCTCGAGCGCTTTTTTAA 0.537000 AVP 551 broad.mit.edu 37 20 3065299 3065299 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:3065299C>T uc002whu.2 - 1 72 c.22G>A c.(22-24)GCC>ACC p.A8T NM_000490 NP_000481 P01185 NEU2_HUMAN arginine vasopressin-neurophysin II 8 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding 0 COAD - Colon adenocarcinoma(99;0.00643) AGGAAGCAGGCGGGCAGCATG 0.627000 CHGB 1114 broad.mit.edu 37 20 5905665 5905665 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:5905665G>T uc002wmg.2 + 5 2310 c.2004G>T c.(2002-2004)AAG>AAT p.K668N CHGB_uc010zqz.1_Missense_Mutation_p.K351N NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 668 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 AACTACAGAAGATAGCTGAGA 0.438000 C20orf12 55184 broad.mit.edu 37 20 18395078 18395078 + Missense_Mutation SNP A A G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:18395078A>G uc010zsa.1 - 12 1422 c.1213T>C c.(1213-1215)TGT>CGT p.C405R C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Missense_Mutation_p.C96R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.C272R|C20orf12_uc002wqq.3_Missense_Mutation_p.C386R|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 213 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) CAAATACCACAGGAGCCACAG 0.522000 TMEM90B 79953 broad.mit.edu 37 20 24524024 24524024 + Silent SNP C C T rs146291718 byFrequency TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:24524024C>T uc002wtw.1 + 2 924 c.291C>T c.(289-291)GGC>GGT p.G97G NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 97 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 ATTCAGAGGGCGTGCTGCGCT 0.652000 EMILIN3 90187 broad.mit.edu 37 20 39992409 39992409 + Missense_Mutation SNP C C T rs143410015 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:39992409C>T uc002xjy.1 - 3 607 c.383G>A c.(382-384)CGC>CAC p.R128H NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 128 EMI. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CTCAGGGCAGCGTTTCCCAGT 0.632000 PI3 5266 broad.mit.edu 37 20 43804672 43804672 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:43804672G>A uc002xng.2 + 2 274 c.250G>A c.(250-252)GCC>ACC p.A84T NM_002638 NP_002629 P19957 ELAF_HUMAN elafin preproprotein 84 WAP. copulation proteinaceous extracellular matrix serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) GATCCGGTGCGCCATGTTGAA 0.512000 GATA5 140628 broad.mit.edu 37 20 61040939 61040939 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr20:61040939C>T uc002ycx.1 - 5 926 c.864G>A c.(862-864)CAG>CAA p.Q288Q NM_080473 NP_536721 Q9BWX5 GATA5_HUMAN GATA binding protein 5 288 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) GCTTCCGTGTCTGGATGCTTT 0.682000 RSPH1 89765 broad.mit.edu 37 21 43912907 43912907 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr21:43912907G>C uc002zbg.2 - 3 340 c.235C>G c.(235-237)CAA>GAA p.Q79E NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 79 MORN 3. meiosis cytosol|nucleus ovary(1) 1 AAAGTGCCTTGACCGTGCTTT 0.318000 KRTAP10-9 386676 broad.mit.edu 37 21 46047148 46047148 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr21:46047148C>G uc002zfp.3 + 1 109 c.60C>G c.(58-60)GAC>GAG p.D20E C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 20 keratin filament 0 GGCAGGTGGACGACTGCCCAG 0.667000 FBLN1 2192 broad.mit.edu 37 22 45914594 45914594 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr22:45914594G>A uc003bgj.1 + 2 259 c.112G>A c.(112-114)GCG>ACG p.A38T FBLN1_uc003bgg.1_Missense_Mutation_p.A38T|FBLN1_uc003bgh.2_Missense_Mutation_p.A38T|FBLN1_uc010gzz.2_Missense_Mutation_p.A38T|FBLN1_uc003bgi.1_Missense_Mutation_p.A38T NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 38 Anaphylatoxin-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGCCTGCTGTGCGGACGGACA 0.597000 MTMR14 64419 broad.mit.edu 37 3 9704013 9704013 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:9704013G>A uc003brz.2 + 3 495 c.371G>A c.(370-372)CGG>CAG p.R124Q MTMR14_uc003bsa.2_Missense_Mutation_p.R124Q|MTMR14_uc003bsb.2_Missense_Mutation_p.R124Q|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 124 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) AAGATGGCCCGGTGCAGAGGA 0.532000 ATP2B2 491 broad.mit.edu 37 3 10400407 10400407 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:10400407C>T uc003bvt.2 - 14 2543 c.2104G>A c.(2104-2106)GTG>ATG p.V702M ATP2B2_uc003bvv.2_Missense_Mutation_p.V657M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V657M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V407M NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 702 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ATGCCCACCACGCAGATGCAG 0.637000 CCDC13 152206 broad.mit.edu 37 3 42794186 42794186 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:42794186C>T uc003cly.3 - 4 478 c.394G>A c.(394-396)GTG>ATG p.V132M CCDC13_uc003clz.2_Missense_Mutation_p.V132M|CCDC13_uc011azq.1_Missense_Mutation_p.V132M NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 132 ovary(1) 1 GTGGCGACCACGTCTCCGGCT 0.483000 DNAH1 25981 broad.mit.edu 37 3 52420183 52420183 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:52420183C>T uc011bef.1 + 55 8894 c.8633C>T c.(8632-8634)ACG>ATG p.T2878M DNAH1_uc003ddv.2_Translation_Start_Site NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2878 Potential.|Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGGTGGATACGGCCATCGCC 0.403000 CADPS 8618 broad.mit.edu 37 3 62467417 62467417 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:62467417C>T uc003dll.2 - 22 3514 c.3154G>A c.(3154-3156)GCT>ACT p.A1052T CADPS_uc003dlj.1_Missense_Mutation_p.A2T|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1052 MHD1.|Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TATATAGCAGCCATCCATGAC 0.398000 MYH15 22989 broad.mit.edu 37 3 108107879 108107879 + Missense_Mutation SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:108107879T>C uc003dxa.1 - 39 5590 c.5533A>G c.(5533-5535)AGT>GGT p.S1845G NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1845 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GCCTCTGCACTGCGACGGATT 0.552000 SIDT1 54847 broad.mit.edu 37 3 113334964 113334964 + Missense_Mutation SNP C C T rs140834549 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:113334964C>T uc003eak.2 + 20 2635 c.1984C>T c.(1984-1986)CGG>TGG p.R662W SIDT1_uc011big.1_Missense_Mutation_p.R415W|SIDT1_uc011bii.1_Missense_Mutation_p.R115W NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 662 Cytoplasmic (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 AATTTTCCGGCGGGCTGCCAT 0.458000 SIAH2 6478 broad.mit.edu 37 3 150480301 150480301 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:150480301C>T uc003eyi.2 - 1 963 c.336G>A c.(334-336)CCG>CCA p.P112P NM_005067 NP_005058 O43255 SIAH2_HUMAN seven in absentia homolog 2 112 RING-type. apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process cytosol|nucleus transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCCTGCACGTCGGGCAGCAGC 0.617000 PEX5L 51555 broad.mit.edu 37 3 179525543 179525543 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:179525543G>A uc003fki.1 - 14 1725 c.1595C>T c.(1594-1596)ACG>ATG p.T532M PEX5L_uc011bqd.1_Missense_Mutation_p.T489M|PEX5L_uc011bqe.1_Missense_Mutation_p.T340M|PEX5L_uc011bqf.1_Missense_Mutation_p.T424M|PEX5L_uc003fkj.1_Missense_Mutation_p.T497M|PEX5L_uc010hxd.1_Missense_Mutation_p.T530M|PEX5L_uc011bqg.1_Missense_Mutation_p.T508M|PEX5L_uc011bqh.1_Missense_Mutation_p.T473M NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 532 TPR 4. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CAGTGCTCGCGTATAGGCCTC 0.547000 CCDC39 339829 broad.mit.edu 37 3 180359946 180359946 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:180359946C>T uc010hxe.2 - 13 1824 c.1709G>A c.(1708-1710)CGT>CAT p.R570H CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 570 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCTCGAGTACGCTTAACTTC 0.323000 SLIT2 9353 broad.mit.edu 37 4 20525651 20525651 + Missense_Mutation SNP A A C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:20525651A>C uc003gpr.1 + 14 1493 c.1289A>C c.(1288-1290)AAC>ACC p.N430T SLIT2_uc003gps.1_Missense_Mutation_p.N430T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 430 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTGGCCCAGAACCCCTTTATT 0.483000 FRYL 285527 broad.mit.edu 37 4 48578238 48578238 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:48578238T>A uc003gyh.1 - 24 3135 c.2530A>T c.(2530-2532)AGC>TGC p.S844C FRYL_uc003gyk.2_Missense_Mutation_p.S844C NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 844 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TTGATGGGGCTACTAAGGAAA 0.318000 C4orf37 285555 broad.mit.edu 37 4 98633896 98633896 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:98633896C>T uc003htt.1 - 10 1364 c.1274G>A c.(1273-1275)CGC>CAC p.R425H NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 425 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) CTCTTCAAAGCGCTTTGATGC 0.373000 FAT4 79633 broad.mit.edu 37 4 126411278 126411278 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:126411278C>T uc003ifj.3 + 17 13301 c.13301C>T c.(13300-13302)CCG>CTG p.P4434L FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4434 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 GCCTCCCACCCGTGCCAGAAT 0.607000 PLK4 10733 broad.mit.edu 37 4 128807158 128807158 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:128807158C>T uc003ifo.2 + 5 878 c.633C>T c.(631-633)TTC>TTT p.F211F PLK4_uc011cgs.1_Silent_p.F179F|PLK4_uc011cgt.1_Silent_p.F170F NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 211 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GACCACCCTTCGACACTGACA 0.413000 SMAD1 4086 broad.mit.edu 37 4 146467918 146467918 + Missense_Mutation SNP A A G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr4:146467918A>G uc003ikc.2 + 5 1255 c.839A>G c.(838-840)AAC>AGC p.N280S SMAD1_uc003ikd.2_Missense_Mutation_p.N280S|SMAD1_uc010iov.2_Missense_Mutation_p.N280S|SMAD1_uc011cic.1_Missense_Mutation_p.N241S NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 280 MH2. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) TATGAGCTCAACAATCGTGTG 0.453000 ADAMTS16 170690 broad.mit.edu 37 5 5237152 5237152 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:5237152C>T uc003jdl.2 + 14 2232 c.2094C>T c.(2092-2094)GTC>GTT p.V698V ADAMTS16_uc003jdk.1_Silent_p.V698V|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 698 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CAAATAAAGTCAAAGATGGGA 0.318000 SEMA5A 9037 broad.mit.edu 37 5 9227046 9227046 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:9227046C>A uc003jek.2 - 7 1079 c.367G>T c.(367-369)GTG>TTG p.V123L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 123 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TCGCCACCCACCAGAAGCACC 0.393000 BASP1 10409 broad.mit.edu 37 5 17275368 17275368 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:17275368A>T uc003jfx.2 + 2 222 c.43A>T c.(43-45)AAC>TAC p.N15Y NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 15 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 CTACAATGTGAACGACGAGAA 0.562000 GHR 2690 broad.mit.edu 37 5 42629152 42629152 + Missense_Mutation SNP T T A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:42629152T>A uc003jmt.2 + 3 126 c.83T>A c.(82-84)ATC>AAC p.I28N GHR_uc011cpq.1_5'UTR NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 28 Extracellular (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACAGCAGCTATCCTTAGCAGA 0.353000 PCSK1 5122 broad.mit.edu 37 5 95748060 95748060 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:95748060G>A uc003kls.1 - 7 1050 c.844C>T c.(844-846)CGG>TGG p.R282W PCSK1_uc010jbi.1_Missense_Mutation_p.R43W NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 282 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGGCTAGCCGGCCAGGCCCC 0.478000 LNPEP 4012 broad.mit.edu 37 5 96320901 96320901 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:96320901C>T uc003kmv.1 + 3 1492 c.978C>T c.(976-978)ACC>ACT p.T326T LNPEP_uc003kmw.1_Silent_p.T312T NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 326 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AGCAATACACCGCTTTATCAA 0.373000 PCDHA2 56146 broad.mit.edu 37 5 140175691 140175691 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:140175691C>T uc003lhd.2 + 1 1248 c.1142C>T c.(1141-1143)ACG>ATG p.T381M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T381M|PCDHA2_uc011czy.1_Missense_Mutation_p.T381M NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 381 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTCTGGTACGAATGGACAT 0.552000 ADAMTS2 9509 broad.mit.edu 37 5 178555091 178555091 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:178555091G>A uc003mjw.2 - 17 2486 c.2486C>T c.(2485-2487)TCA>TTA p.S829L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 829 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTACGTCAGTGAGACCCGGGT 0.572000 DEK 7913 broad.mit.edu 37 6 18256032 18256032 + Missense_Mutation SNP C C G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:18256032C>G uc003ncr.1 - 6 696 c.503G>C c.(502-504)AGA>ACA p.R168T DEK_uc011djf.1_Missense_Mutation_p.R134T|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 168 SAP. chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) TACACCTGATCTCTCCAAATC 0.338000 T NUP214 AML NKAPL 222698 broad.mit.edu 37 6 28227362 28227362 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:28227362G>A uc003nkt.2 + 1 265 c.213G>A c.(211-213)TCG>TCA p.S71S ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 71 upper_aerodigestive_tract(1)|ovary(1) 2 GCTCTGGGTCGCGAGGGCGGC 0.607000 TNXB 7148 broad.mit.edu 37 6 32029299 32029299 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:32029299C>T uc003nzl.2 - 21 7569 c.7367G>A c.(7366-7368)CGT>CAT p.R2456H NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2516 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GCCCCCAACACGCACCACCTG 0.692000 C6orf1 221491 broad.mit.edu 37 6 34214426 34214426 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:34214426G>A uc003ojf.2 - 5 937 c.345C>T c.(343-345)GCC>GCT p.A115A uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Silent_p.A115A|C6orf1_uc003ojh.2_Silent_p.A115A|C6orf1_uc003oji.2_RNA NM_178508 NP_848603 Q86T20 CF001_HUMAN hypothetical protein LOC221491 precursor 115 extracellular region 0 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) TGATGGTGAGGGCATGGGAAG 0.627000 OREG0017364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TULP1 7287 broad.mit.edu 37 6 35466196 35466196 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:35466196C>T uc003okv.3 - 15 1549 c.1537G>A c.(1537-1539)GCC>ACC p.A513T TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.A460T NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 513 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 AGGGTGAAGGCGTCCTCCGCC 0.667000 DEFB110 245913 broad.mit.edu 37 6 49976943 49976943 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:49976943C>T uc011dwr.1 - 2 143 c.97G>A c.(97-99)GAA>AAA p.E33K NM_001037728 NP_001032817 Q30KQ9 DB110_HUMAN beta-defensin 110 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) CTCACTTTTTCGCATCTTTCA 0.328000 BAI3 577 broad.mit.edu 37 6 69772895 69772895 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:69772895G>A uc003pev.3 + 16 2851 c.2403G>A c.(2401-2403)TCG>TCA p.S801S BAI3_uc010kak.2_Silent_p.S801S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 801 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CAACCGATTCGTTTCTGGAGA 0.368000 SLC22A1 6580 broad.mit.edu 37 6 160543066 160543066 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:160543066G>A uc003qtc.2 + 1 204 c.99G>A c.(97-99)GCG>GCA p.A33A SLC22A1_uc003qtd.2_Silent_p.A33A NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 33 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CTGCCTTTGCGCCCATCTGTG 0.607000 SMOC2 64094 broad.mit.edu 37 6 169051367 169051367 + Missense_Mutation SNP C C T rs148223188 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr6:169051367C>T uc003qws.1 + 10 934 c.914C>T c.(913-915)CCG>CTG p.P305L SMOC2_uc003qwr.1_Missense_Mutation_p.P316L|SMOC2_uc011egu.1_5'UTR NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 305 signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TCAGGTTGTCCGGGTGCCAAA 0.473000 TMEM195 392636 broad.mit.edu 37 7 15425182 15425182 + Silent SNP G G A rs137980424 byFrequency TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:15425182G>A uc003stb.1 - 10 1133 c.963C>T c.(961-963)ACC>ACT p.T321T NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 321 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CTTCTTTGCCGGTGACCTAGG 0.358000 GGCT 79017 broad.mit.edu 37 7 30544315 30544315 + Nonsense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:30544315G>T uc003tba.2 - 1 138 c.11C>A c.(10-12)TCG>TAG p.S4* GGCT_uc003tbb.2_Nonsense_Mutation_p.S4*|GGCT_uc003tbc.2_RNA NM_024051 NP_076956 O75223 GGCT_HUMAN gamma-glutamyl cyclotransferase 4 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity 0 CTTGCAGCCCGAGTTGGCCAT 0.607000 GLI3 2737 broad.mit.edu 37 7 42004251 42004251 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:42004251C>T uc011kbh.1 - 15 4511 c.4420G>A c.(4420-4422)GCC>ACC p.A1474T GLI3_uc011kbg.1_Missense_Mutation_p.A1415T NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1474 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GAGTTTTTGGCGCTGGTCCCC 0.522000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome STAG3L4 64940 broad.mit.edu 37 7 66774084 66774084 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:66774084G>T uc003tvt.3 + 3 517 c.250G>T c.(250-252)GAC>TAC p.D84Y STAG3L4_uc010laj.2_RNA NM_022906 NP_075057 Q8TBR4 STG34_HUMAN stromal antigen 3-like 4 84 0 Lung NSC(55;0.0839)|all_lung(88;0.181) TGGCTTCTCAGACTCACAAGT 0.507000 LAT2 7462 broad.mit.edu 37 7 73638356 73638356 + Nonsense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:73638356C>T uc003uag.2 + 12 1007 c.457C>T c.(457-459)CAG>TAG p.Q153* RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Nonsense_Mutation_p.Q153*|LAT2_uc003uai.2_Nonsense_Mutation_p.Q153*|LAT2_uc010lbo.2_RNA NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 153 Cytoplasmic (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 AGGTGCCCAGCAGGAGGGCAT 0.637000 UPK3B 80761 broad.mit.edu 37 7 76140158 76140158 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:76140158G>A uc003ufq.2 + 1 414 c.189G>A c.(187-189)GAG>GAA p.E63E UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron NM_030570 NP_085047 Q9BT76 UPK3B_HUMAN uroplakin 3B isoform a 63 Lumenal (Potential). negative regulation of gene expression integral to membrane|plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(862;0.204) GATTGGGAGAGGCAGCCCCAG 0.687000 TECPR1 25851 broad.mit.edu 37 7 97860371 97860371 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:97860371C>T uc003upg.2 - 15 2389 c.2184G>A c.(2182-2184)CCG>CCA p.P728P TECPR1_uc003uph.1_Silent_p.P658P NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 728 integral to membrane protein binding pancreas(1) 1 AGATGGCCTGCGGGGACGGGC 0.642000 SLC12A9 56996 broad.mit.edu 37 7 100454554 100454554 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:100454554C>T uc003uwp.2 + 5 655 c.513C>T c.(511-513)GGC>GGT p.G171G SLC12A9_uc003uwo.1_Silent_p.G82G|SLC12A9_uc003uwq.2_Silent_p.G82G|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 171 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCTGTATGGCTCCCTGCTGC 0.657000 DOCK4 9732 broad.mit.edu 37 7 111386415 111386415 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:111386415C>T uc003vfx.2 - 43 4894 c.4625G>A c.(4624-4626)CGA>CAA p.R1542Q DOCK4_uc011kml.1_Missense_Mutation_p.R423Q|DOCK4_uc011kmm.1_Missense_Mutation_p.R449Q|DOCK4_uc003vfw.2_Missense_Mutation_p.R992Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R1587Q NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1542 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTCTCTTAATCGTGCAATTTT 0.448000 C7orf53 286006 broad.mit.edu 37 7 112129968 112129968 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:112129968C>T uc011kmq.1 + 4 495 c.360C>T c.(358-360)CTC>CTT p.L120L C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.L120L NM_001134468 NP_001127940 Q8N8F7 CG053_HUMAN hypothetical protein LOC286006 120 Potential. integral to membrane ovary(1) 1 TAAAGCGACTCAACCAACTCA 0.388000 C8orf22 492307 broad.mit.edu 37 8 49985432 49985432 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:49985432C>A uc003xqq.3 + 2 226 c.43C>A c.(43-45)CAG>AAG p.Q15K NM_001007176 NP_001007177 Q8WWR9 PDPFL_HUMAN hypothetical protein LOC492307 15 0 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) AGCCAGAAATCAGTATTATCG 0.423000 KCNB2 9312 broad.mit.edu 37 8 73849466 73849466 + Missense_Mutation SNP G G A rs139648032 TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:73849466G>A uc003xzb.2 + 3 2464 c.1876G>A c.(1876-1878)GCC>ACC p.A626T NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 626 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GCCGCCCTCCGCCTCTCACTT 0.582000 WWP1 11059 broad.mit.edu 37 8 87470223 87470223 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:87470223G>A uc003ydt.2 + 22 2748 c.2468G>A c.(2467-2469)AGA>AAA p.R823K NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 823 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 CATTATACAAGAAACAGCAAG 0.363000 CNGB3 54714 broad.mit.edu 37 8 87656093 87656093 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:87656093C>T uc003ydx.2 - 10 1110 c.1064G>A c.(1063-1065)CGA>CAA p.R355Q CNGB3_uc010maj.2_Missense_Mutation_p.R217Q NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 355 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCCAGTTGTTCGAATAACTCT 0.358000 CSMD3 114788 broad.mit.edu 37 8 114031299 114031299 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:114031299G>C uc003ynu.2 - 6 1186 c.1027C>G c.(1027-1029)CAA>GAA p.Q343E CSMD3_uc003ynt.2_Missense_Mutation_p.Q303E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q343E|CSMD3_uc010mcx.1_Missense_Mutation_p.Q343E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 343 Extracellular (Potential).|CUB 2. 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 AGTATACCTTGATAGGGAGCA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRAPPC9 83696 broad.mit.edu 37 8 141034153 141034153 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr8:141034153G>A uc003yvj.2 - 18 2714 c.2580C>T c.(2578-2580)TTC>TTT p.F860F TRAPPC9_uc003yvh.2_Silent_p.F958F|TRAPPC9_uc010mel.1_Silent_p.F281F|TRAPPC9_uc003yvi.1_Silent_p.F851F NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 860 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 CAGAGTATTTGAAATTCAGGA 0.458000 INSL6 11172 broad.mit.edu 37 9 5185416 5185416 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr9:5185416G>A uc003zix.2 - 1 203 c.187C>T c.(187-189)CGG>TGG p.R63W NM_007179 NP_009110 Q9Y581 INSL6_HUMAN insulin-like 6 precursor 63 extracellular region hormone activity 0 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GCAATCAACCGTGAGAAAGGG 0.572000 MLLT3 4300 broad.mit.edu 37 9 20413763 20413763 + Missense_Mutation SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr9:20413763G>T uc003zoe.2 - 5 1340 c.1081C>A c.(1081-1083)CCC>ACC p.P361T MLLT3_uc011lne.1_Missense_Mutation_p.P329T|MLLT3_uc011lnf.1_Missense_Mutation_p.P358T|MLLT3_uc003zof.2_Missense_Mutation_p.P162T NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GAATCATTGGGATCCACAATA 0.353000 T MLL ALL C9orf79 286234 broad.mit.edu 37 9 90500615 90500615 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr9:90500615C>T uc004app.3 + 4 1248 c.1213C>T c.(1213-1215)CCC>TCC p.P405S C9orf79_uc004apo.1_Missense_Mutation_p.P217S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 405 integral to membrane ovary(3) 3 GACCCTAAATCCCTTCTGGAA 0.562000 PHF19 26147 broad.mit.edu 37 9 123624899 123624899 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr9:123624899G>A uc004bks.1 - 11 1350 c.1097C>T c.(1096-1098)TCT>TTT p.S366F PHF19_uc011lyf.1_Missense_Mutation_p.S157F|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 ACGCAGCTCAGAGGAGGCGCT 0.612000 OR1N2 138882 broad.mit.edu 37 9 125315995 125315995 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr9:125315995G>A uc011lyx.1 + 1 547 c.547G>A c.(547-549)GTG>ATG p.V183M NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 GCTGACCCGCGTGGCTTTCTG 0.527000 HCCS 3052 broad.mit.edu 37 X 11136637 11136637 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:11136637G>A uc004cuk.2 + 5 684 c.418G>A c.(418-420)GAG>AAG p.E140K HCCS_uc004cuj.2_Missense_Mutation_p.E140K|HCCS_uc004cul.1_Missense_Mutation_p.E140K NM_005333 NP_005324 P53701 CCHL_HUMAN holocytochrome c synthase 140 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding 0 GTGGAAGGATGAGGATATCAG 0.353000 MAGEB6 158809 broad.mit.edu 37 X 26212461 26212461 + Silent SNP T T C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:26212461T>C uc004dbr.2 + 2 647 c.498T>C c.(496-498)TAT>TAC p.Y166Y MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 166 ovary(3) 3 GCTCAAAATATGATGTGGCTG 0.493000 PORCN 64840 broad.mit.edu 37 X 48372643 48372643 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:48372643C>T uc010nie.1 + 9 893 c.735C>T c.(733-735)TAC>TAT p.Y245Y PORCN_uc004djr.1_Silent_p.Y240Y|PORCN_uc004djs.1_Silent_p.Y234Y|PORCN_uc004djt.1_Silent_p.Y163Y|PORCN_uc011mlx.1_Silent_p.Y163Y|PORCN_uc004dju.1_Silent_p.Y103Y|PORCN_uc004djv.1_Silent_p.Y245Y|PORCN_uc004djw.1_Silent_p.Y239Y NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 245 Extracellular (Potential). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TGCGAGCCTACGAGAGTGCTG 0.602000 GATA1 2623 broad.mit.edu 37 X 48652490 48652490 + Silent SNP G G T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:48652490G>T uc004dkq.3 + 6 1252 c.1161G>T c.(1159-1161)CTG>CTT p.L387L NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 387 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GACCCCTACTGGGCTCACCCA 0.662000 Mis|F megakaryoblastic leukemia of Downs Syndrome PHF8 23133 broad.mit.edu 37 X 54043133 54043133 + Missense_Mutation SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:54043133C>T uc004dsu.2 - 6 672 c.599G>A c.(598-600)CGC>CAC p.R200H PHF8_uc004dst.2_Missense_Mutation_p.R164H|PHF8_uc004dsv.2_Missense_Mutation_p.R30H|PHF8_uc004dsw.2_Missense_Mutation_p.R164H|PHF8_uc004dsx.2_5'Flank|PHF8_uc004dsy.2_Missense_Mutation_p.R164H NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 200 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 GTCAGCCTGGCGGGTCACATC 0.448000 ATRX 546 broad.mit.edu 37 X 76939715 76939715 + Missense_Mutation SNP C C T rs149249195 byFrequency TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:76939715C>T uc004ecp.3 - 9 1265 c.1033G>A c.(1033-1035)GCA>ACA p.A345T ATRX_uc004ecq.3_Missense_Mutation_p.A307T|ATRX_uc004eco.3_Missense_Mutation_p.A130T|ATRX_uc004ecr.2_Missense_Mutation_p.A306T|ATRX_uc010nlx.1_Missense_Mutation_p.A345T|ATRX_uc010nly.1_Missense_Mutation_p.A290T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 345 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ACAATTAGTGCGGAATAAGAG 0.363000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome ARMCX2 9823 broad.mit.edu 37 X 100911039 100911039 + Silent SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:100911039G>A uc004eid.2 - 3 1891 c.1536C>T c.(1534-1536)AAC>AAT p.N512N ARMCX2_uc004eie.3_Silent_p.N512N|ARMCX2_uc004eif.3_Silent_p.N512N|ARMCX2_uc004eig.3_Silent_p.N512N|ARMCX2_uc010nnt.2_Silent_p.N512N NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 512 ARM 3. integral to membrane binding ovary(6) 6 AACGGAAAAAGTTTGCAATGG 0.363000 TRPC5 7224 broad.mit.edu 37 X 111078194 111078194 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:111078194C>T uc004epl.1 - 7 2770 c.1851G>A c.(1849-1851)CTG>CTA p.L617L TRPC5_uc004epm.1_Silent_p.L617L NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 617 Helical; (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCAGCATGTTCAGCAGCACTA 0.438000 MAGEC1 9947 broad.mit.edu 37 X 140995050 140995050 + Missense_Mutation SNP A A T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:140995050A>T uc004fbt.2 + 4 2146 c.1860A>T c.(1858-1860)GAA>GAT p.E620D MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 620 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGGAGGAATTCCAGTCTT 0.562000 HNSCC(15;0.026) SLITRK4 139065 broad.mit.edu 37 X 142718454 142718454 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:142718454C>T uc004fbx.2 - 2 847 c.471G>A c.(469-471)CTG>CTA p.L157L SLITRK4_uc004fby.2_Silent_p.L157L NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 157 Extracellular (Potential).|LRR 5. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGAGAACTTTCAGTTTGTGGA 0.393000 AFF2 2334 broad.mit.edu 37 X 148037715 148037715 + Missense_Mutation SNP G G C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:148037715G>C uc004fcp.2 + 11 2619 c.2140G>C c.(2140-2142)GAT>CAT p.D714H AFF2_uc004fcq.2_Missense_Mutation_p.D704H|AFF2_uc004fcr.2_Missense_Mutation_p.D675H|AFF2_uc011mxb.1_Missense_Mutation_p.D679H|AFF2_uc004fcs.2_Missense_Mutation_p.D681H|AFF2_uc011mxc.1_Missense_Mutation_p.D355H NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 714 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CATTGAAACAGATTCATCTAC 0.458000 MAMLD1 10046 broad.mit.edu 37 X 149641985 149641985 + Missense_Mutation SNP G G A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:149641985G>A uc004fee.1 + 4 2027 c.1951G>A c.(1951-1953)GCT>ACT p.A651T MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.A626T|MAMLD1_uc011mxw.1_Intron NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 651 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) GACTTCTGCAGCTAGCTCGGT 0.542000 MAGEA1 4100 broad.mit.edu 37 X 152482314 152482314 + Missense_Mutation SNP C C A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:152482314C>A uc004fhf.2 - 3 917 c.697G>T c.(697-699)GGG>TGG p.G233W NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 233 MAGE. cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGGCTCCCCATAGGCACTG 0.577000 TMLHE 55217 broad.mit.edu 37 X 154743754 154743754 + Silent SNP C C T TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:154743754C>T uc004fnn.2 - 4 697 c.531G>A c.(529-531)CTG>CTA p.L177L TMLHE_uc004fno.2_Silent_p.L177L|TMLHE_uc004fnp.3_Silent_p.L177L NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 177 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GAAACTTCTTCAGTCCCTCGT 0.448000 ZNF167 55888 broad.mit.edu 37 3 44611508 44611509 + Frame_Shift_Ins INS - - G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:44611508_44611509insG uc010hin.2 + 6 1294_1295 c.906_907insG c.(904-909)TTTGGGfs p.F302fs ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Frame_Shift_Ins_p.F151fs|ZNF167_uc003cnj.2_Frame_Shift_Ins_p.F302fs|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 302_303 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GGGGACTCTTTGGGGTGGTTCC 0.465 GPR151 134391 broad.mit.edu 37 5 145894703 145894705 + In_Frame_Del DEL ATC ATC - TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr5:145894703_145894705delATC uc003lod.1 - 1 972_974 c.972_974delGAT c.(970-975)ATGATA>ATA p.M324del NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 324 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTTTTGGTTATCATCCATTTCC 0.458 RGS21 431704 broad.mit.edu 37 1 192335231 192335232 + Frame_Shift_Ins INS - - A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr1:192335230_192335231T>TA uc001gsh.3 + 4 609_610 c.435_436T>TA c.(433-438)cataaafs p.H145fs NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 145 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TTCCAAATCATAAAAAATGGCT 0.327 ZNF167 55888 broad.mit.edu 37 3 44611509 44611510 + Frame_Shift_Ins INS - - G TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:44611508_44611509T>TG uc003cnj.3 + 5 1322_1323 c.906_907T>TG c.(904-909)tttgggfs p.F302fs ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Frame_Shift_Ins_p.F302fs|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Frame_Shift_Ins_p.F151fs NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA. 302 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GGGGACTCTTTGGGGTGGTTCC 0.465 CNTN3 5067 broad.mit.edu 37 3 74334623 74334624 + Frame_Shift_Ins INS - - C TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr3:74334622_74334623A>AC uc003dpm.1 - 18 2617_2618 c.2537_2538T>GT c.(2536-2538)ggtfs p.G846fs NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 846 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCTCCTTTCCACCCCCATTCCA 0.485 LAMB1 3912 broad.mit.edu 37 7 107594141 107594141 + Frame_Shift_Del DEL C C - TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chr7:107594140_107594140AC>A uc003vev.2 - 19 3147 c.2986_2986GT>T c.(2986-2988)tcgfs p.S996fs LAMB1_uc003vew.2_Frame_Shift_Del_p.S972fs NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 972 Laminin EGF-like 10. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTGACACGACCCCCCAACT 0.502 CNKSR2 22866 broad.mit.edu 37 X 21609256 21609257 + Frame_Shift_Ins INS - - A TCGA-CG-5730-01A-11D-1600-08 TCGA-CG-5730-11A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ed0dd6-fcf5-4b45-a3a9-6f813d5fbaf7 432f25db-bdbb-4b92-89c0-7f179f3927ed g.chrX:21609255_21609256G>GA uc004czx.2 + 14 2253_2254 c.1773_1774G>GA c.(1771-1776)tggaaafs p.W591fs CNKSR2_uc004czw.3_Frame_Shift_Ins_p.W591fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.W542fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.W561fs|CNKSR2_uc004czy.3_Frame_Shift_Ins_p.W183fs NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 591 PH. regulation of signal transduction cytoplasm|membrane protein binding p.W591L(1) breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CACAGAAATGGAAAAAATATTG 0.376