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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CDK11A 728642 broad.mit.edu 37 1 1634992 1634992 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:1634992G>A uc009vks.2 - 18 2091 c.1983C>T c.(1981-1983)TTC>TTT p.F661F CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.F168F|CDK11A_uc009vkp.2_Silent_p.F278F|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.F651F NM_024011 NP_076916 Q9UQ88 CD11A_HUMAN cell division cycle 2-like 2 isoform 1 664 apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 GGTGCTCGCTGAAGGTCATCT 0.587 NaN 0 0 0 0.000602 0 4 15 GNB1 2782 broad.mit.edu 37 1 1756890 1756890 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:1756890C>A uc001aif.2 - 3 335 c.3G>T c.(1-3)ATG>ATT p.M1I GNB1_uc009vky.2_5'UTR NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 1 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) CAAGCTCACTCATCTTCCGAT 0.398 NaN 1 0 2.4537e-52 0.01441 2.86817e-52 129 128 SLC45A1 50651 broad.mit.edu 37 1 8403885 8403885 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:8403885G>T uc001apb.2 + 8 2059 c.2059G>T c.(2059-2061)GCT>TCT p.A687S SLC45A1_uc001apc.2_Missense_Mutation_p.A385S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 687 Helical; (Potential). carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTACTTCCTGGCTCAGATTCT 0.642 NaN 1 0 3.51602e-12 0.008871 3.81361e-12 17 57 UBR4 23352 broad.mit.edu 37 1 19487579 19487579 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:19487579C>T uc001bbi.2 - 38 5242 c.5238G>A c.(5236-5238)CAG>CAA p.Q1746Q UBR4_uc001bbm.1_Silent_p.Q957Q NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1746 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGGTTCACTCTGAAATGCCG 0.517 NaN 0 0 0 0.00308 0 8 23 LDLRAP1 26119 broad.mit.edu 37 1 25893369 25893369 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:25893369C>T uc001bkl.3 + 9 927 c.813C>T c.(811-813)GTC>GTT p.V271V LDLRAP1_uc009vrw.2_RNA|LDLRAP1_uc009vrx.2_Silent_p.V101V NM_015627 NP_056442 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 271 AP-2 complex binding. amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) ACCCTCAGGTCCTGGACACTG 0.657 NaN 0 0 0 0.000602 0 5 10 POU3F1 5453 broad.mit.edu 37 1 38511353 38511353 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:38511353C>T uc001ccp.1 - 1 1098 c.1063G>A c.(1063-1065)GAG>AAG p.E355K NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 355 Homeobox. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AAGTGGCTCTCGAGCGCGCCT 0.662 NaN 0 0 0 0.001168 0 6 10 HPCAL4 51440 broad.mit.edu 37 1 40150121 40150121 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:40150121T>A uc001cdr.2 - 2 275 c.155A>T c.(154-156)TAC>TTC p.Y52F HPCAL4_uc010oix.1_Missense_Mutation_p.Y52F NM_016257 NP_057341 Q9UM19 HPCL4_HUMAN hippocalcin-like protein 4 52 EF-hand 1. central nervous system development intracellular calcium ion binding central_nervous_system(1) 1 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CACCTTGATGTAGAGCTGCTG 0.632 NaN 0 0 0 0.006122 0 14 14 POMGNT1 55624 broad.mit.edu 37 1 46655654 46655654 + Missense_Mutation SNP C C T rs150351855 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:46655654C>T uc001cpe.2 - 20 1821 c.1657G>A c.(1657-1659)GAG>AAG p.E553K POMGNT1_uc010olx.1_Missense_Mutation_p.E531K|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.E410K|POMGNT1_uc001cpg.2_Missense_Mutation_p.E553K|POMGNT1_uc001cpf.2_Missense_Mutation_p.E220K NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 553 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TCCAGAACCTCAGCCTCACTG 0.443 NaN 0 0 0 0.009096 0 3 16 LRRC41 10489 broad.mit.edu 37 1 46744864 46744864 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:46744864G>C uc001cpn.2 - 9 2253 c.2209C>G c.(2209-2211)CTG>GTG p.L737V LRRC41_uc010omb.1_3'UTR NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 737 LRR 7. ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CTGATGTCCAGCTGACAGAGA 0.532 NaN 0 0 0 0.007291 0 24 17 FAF1 11124 broad.mit.edu 37 1 50941244 50941244 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:50941244C>T uc009vyx.1 - 19 1824 c.1761G>A c.(1759-1761)GAG>GAA p.E587E FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Silent_p.E587E|FAF1_uc010onc.1_Silent_p.E345E NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 587 UBX. apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) GGAAACGCCGCTCCAAGAACT 0.522 NaN 0 0 0 0.009096 0 4 26 CDC7 8317 broad.mit.edu 37 1 91967346 91967346 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:91967346G>A uc001doe.2 + 2 238 c.73G>A c.(73-75)GAA>AAA p.E25K CDC7_uc001dof.2_Missense_Mutation_p.E25K|CDC7_uc010osw.1_Missense_Mutation_p.E25K|CDC7_uc009wdc.2_Missense_Mutation_p.E25K NM_003503 NP_003494 O00311 CDC7_HUMAN cell division cycle 7 25 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 5 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GTTTCAGGCTGAAGGCTCTTT 0.413 NaN 0 0 0 0.003954 0 24 90 GLMN 11146 broad.mit.edu 37 1 92757089 92757089 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:92757089G>A uc001dor.2 - 4 286 c.171C>T c.(169-171)ATC>ATT p.I57I GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.I57I NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 57 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TATTCTTGATGATGACCTGTA 0.373 NaN Multiple_Glomus_Tumors_(of_the_Skin)_Familial 0 0 0 0.010729 0 9 25 CCDC18 343099 broad.mit.edu 37 1 93646208 93646208 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:93646208C>T uc001dpq.2 + 1 289 c.121C>T c.(121-123)CGG>TGG p.R41W TMED5_uc001dpn.2_5'UTR|TMED5_uc001dpo.2_5'UTR|TMED5_uc001dpp.2_RNA NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 Error:Variant_position_missing_in_Q5T9S5_after_alignment ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CCCGCGCCTTCGGCGGCGCCT 0.721 NaN 0 0 0 0.007413 0 20 9 KCNA2 3737 broad.mit.edu 37 1 111147122 111147122 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:111147122C>A uc001dzu.2 - 2 779 c.283G>T c.(283-285)GGG>TGG p.G95W KCNA2_uc009wfv.1_Missense_Mutation_p.G95W|KCNA2_uc009wfw.2_Missense_Mutation_p.G95W NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 95 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AATCGGCCCCCTGACTGGTAG 0.473 NaN 1 0 0.000978159 0.010729 0.00101028 12 48 SIKE1 80143 broad.mit.edu 37 1 115318966 115318966 + Splice_Site SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:115318966C>T uc001efo.3 - 4 602 c.522_splice c.e4+1 p.E174_splice SIKE1_uc001efp.3_Splice_Site_p.E178_splice NM_025073 NP_079349 Q9BRV8 SIKE1_HUMAN suppressor of IKK epsilon isoform 2 cytosol protein binding 0 TACAATCTTACCTCTAATTGG 0.373 NaN 0 0 0 0.00499 0 17 62 SPAG17 200162 broad.mit.edu 37 1 118640299 118640299 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:118640299C>T uc001ehk.2 - 7 1073 c.1005G>A c.(1003-1005)GAG>GAA p.E335E NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 335 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) TAACCATCATCTCACCATCTG 0.348 NaN 0 0 0 0.004482 0 6 18 SETDB1 9869 broad.mit.edu 37 1 150923028 150923028 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:150923028C>T uc001evu.2 + 13 1865 c.1675C>T c.(1675-1677)CCA>TCA p.P559S SETDB1_uc009wmf.2_Missense_Mutation_p.P560S|SETDB1_uc001evv.2_Missense_Mutation_p.P559S|SETDB1_uc009wmg.1_Missense_Mutation_p.P559S NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAGCGGGCCCCAGCAGAGCC 0.587 NaN 0 0 0 0.00632 0 29 179 SHE 126669 broad.mit.edu 37 1 154459062 154459062 + Silent SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:154459062G>T uc001ffb.2 - 4 1209 c.1122C>A c.(1120-1122)GCC>GCA p.A374A SHE_uc001ffc.2_RNA NM_001010846 NP_001010846 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 374 breast(3)|ovary(2)|central_nervous_system(1) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GGTCCGAGAGGGCTGGCTTCA 0.597 NaN 1 0 1.32181e-22 0.007291 1.4995e-22 29 106 DCST1 149095 broad.mit.edu 37 1 155013956 155013956 + Silent SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:155013956G>T uc001fgn.1 + 7 711 c.615G>T c.(613-615)ACG>ACT p.T205T DCST1_uc010per.1_Silent_p.T230T|DCST1_uc010pes.1_Silent_p.T180T NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 205 Extracellular (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 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) ATAGTGAGACGGGCTACACGC 0.587 NaN 1 0 6.42651e-13 0.010729 6.99237e-13 12 87 DCST1 149095 broad.mit.edu 37 1 155023327 155023327 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:155023327A>G uc001fgn.1 + 17 2200 c.2104A>G c.(2104-2106)ACT>GCT p.T702A DCST1_uc010pes.1_Missense_Mutation_p.T677A|uc001fgo.2_RNA|ADAM15_uc001fgq.1_5'Flank|ADAM15_uc009wpc.1_5'Flank|ADAM15_uc010pet.1_5'Flank|ADAM15_uc010peu.1_5'Flank|ADAM15_uc001fgt.1_5'Flank|ADAM15_uc010pev.1_5'Flank|ADAM15_uc001fgs.1_5'Flank|ADAM15_uc001fgr.1_5'Flank|ADAM15_uc001fgu.1_5'Flank|ADAM15_uc001fgw.1_5'Flank|ADAM15_uc001fgv.1_5'Flank|ADAM15_uc001fgx.1_5'Flank|ADAM15_uc001fgz.1_5'Flank|ADAM15_uc001fgy.1_5'Flank|ADAM15_uc001fha.1_5'Flank NM_152494 NP_689707 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 isoform 1 702 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1)|skin(1) 2 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) CAACGACGACACTGCCTACGC 0.637 NaN OREG0013846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00278 0 22 12 SCAMP3 10067 broad.mit.edu 37 1 155226174 155226174 + Nonsense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:155226174G>A uc001fjs.2 - 9 1187 c.934C>T c.(934-936)CAG>TAG p.Q312* RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Nonsense_Mutation_p.Q159*|SCAMP3_uc001fju.2_Nonsense_Mutation_p.Q298*|SCAMP3_uc001fjv.2_3'UTR|SCAMP3_uc001fjt.2_Nonsense_Mutation_p.Q286* NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 312 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGGCCTTCTGAAAGCTGGCA 0.582 NaN 0 0 0 0.01441 0 46 236 GON4L 54856 broad.mit.edu 37 1 155736062 155736062 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:155736062A>G uc001flz.2 - 21 3299 c.3202T>C c.(3202-3204)TCT>CCT p.S1068P GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.S1068P|GON4L_uc009wrh.1_Missense_Mutation_p.S1068P|GON4L_uc001fma.1_Missense_Mutation_p.S1068P|GON4L_uc001fmb.3_Missense_Mutation_p.S264P|GON4L_uc001fmc.2_Missense_Mutation_p.S1068P|GON4L_uc001fmd.3_Missense_Mutation_p.S1068P|GON4L_uc009wri.2_Missense_Mutation_p.S654P NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1068 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTGCAGGAGACTCAAAACTC 0.567 NaN 0 0 0 0.01441 0 52 13 CD84 8832 broad.mit.edu 37 1 160520800 160520800 + Nonsense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:160520800G>T uc001fwh.3 - 6 861 c.837C>A c.(835-837)TAC>TAA p.Y279* CD84_uc001fwf.3_Nonsense_Mutation_p.Y262*|CD84_uc001fwg.3_Nonsense_Mutation_p.Y273*|CD84_uc009wtn.2_Intron|CD84_uc001fwi.3_Nonsense_Mutation_p.Y148* NM_003874 NP_003865 Q9UIB8 SLAF5_HUMAN CD84 molecule 279 Cytoplasmic (Potential).|ITSM motif 1. Y->F: Reduced tyrosine phosphorylation, reduced binding of SH2D1B and loss of binding of SH2D1A. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGATATATGTGTATATGGTTT 0.378 NaN 1 0 2.26627e-22 0.007835 2.55417e-22 40 79 LMX1A 4009 broad.mit.edu 37 1 165173230 165173230 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:165173230T>A uc001gcy.1 - 8 1257 c.1036A>T c.(1036-1038)AGT>TGT p.S346C LMX1A_uc001gcz.1_Missense_Mutation_p.S346C|LMX1A_uc001gcw.1_Missense_Mutation_p.S64C|LMX1A_uc001gcx.1_Missense_Mutation_p.S97C NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 346 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CCCAGGTTACTGAGGGAGGTG 0.507 NaN 0 0 0 0.00308 0 8 86 SCYL3 57147 broad.mit.edu 37 1 169857941 169857941 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:169857941C>G uc001ggs.2 - 2 239 c.41G>C c.(40-42)AGA>ACA p.R14T SCYL3_uc001ggt.2_Missense_Mutation_p.R14T|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 14 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGTGGTTCTCTCAGTGTATA 0.423 NaN 0 0 0 0.008291 0 10 72 LHX4 89884 broad.mit.edu 37 1 180217472 180217472 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:180217472G>A uc001goe.1 + 2 352 c.129G>A c.(127-129)CTG>CTA p.L43L NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 43 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGTTCATCCTGAAGGTCCTGG 0.592 NaN 0 0 0 0.00308 0 8 49 ASPM 259266 broad.mit.edu 37 1 197112811 197112811 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:197112811G>A uc001gtu.2 - 3 828 c.571C>T c.(571-573)CCA>TCA p.P191S ASPM_uc001gtv.2_Missense_Mutation_p.P191S|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 191 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GCTTGTAGTGGGCTCCTAACT 0.353 NaN 0 0 0 0.01441 0 85 14 PIK3C2B 5287 broad.mit.edu 37 1 204412707 204412707 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:204412707G>A uc001haw.2 - 20 3365 c.2886C>T c.(2884-2886)CTC>CTT p.L962L PIK3C2B_uc010pqv.1_Silent_p.L934L NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 962 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GAGAGTCCTTGAGGCCGTCCT 0.587 NaN 0 0 0 0.01441 0 151 24 LYST 1130 broad.mit.edu 37 1 235973787 235973787 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:235973787T>A uc001hxj.2 - 5 506 c.331A>T c.(331-333)AAC>TAC p.N111Y LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.N111Y NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 111 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAACTTGAGTTCTTTTCTTTG 0.348 NaN Chediak-Higashi_syndrome 0 0 0 0.012213 0 33 9 TRIM58 25893 broad.mit.edu 37 1 248028105 248028105 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:248028105G>A uc001ido.2 + 3 663 c.615G>A c.(613-615)GAG>GAA p.E205E NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 205 Potential. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCGGCTGGAGGCGGAGGAGC 0.622 NaN 0 0 0 0.010771 0 42 8 RSU1 6251 broad.mit.edu 37 10 16824066 16824066 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:16824066T>C uc001iok.2 - 2 429 c.127A>G c.(127-129)ACA>GCA p.T43A RSU1_uc001iol.2_Missense_Mutation_p.T43A|RSU1_uc001iom.2_5'UTR|RSU1_uc001ion.2_Missense_Mutation_p.T43A NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 43 LRR 1. cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) ACCAGTTGTGTGATATGGGAT 0.373 NaN 0 0 0 0.004482 0 8 35 ANKRD30A 91074 broad.mit.edu 37 10 37486374 37486374 + Silent SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:37486374C>A uc001iza.1 + 29 2613 c.2514C>A c.(2512-2514)GCC>GCA p.A838A NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 894 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAAATAAAGCCTTGGAATTGA 0.318 NaN 1 0 6.97489e-18 0.004878 7.75984e-18 28 34 CHAT 1103 broad.mit.edu 37 10 50872873 50872873 + Silent SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:50872873T>C uc001jhz.2 + 15 2181 c.2028T>C c.(2026-2028)AAT>AAC p.N676N CHAT_uc001jhv.1_Silent_p.N558N|CHAT_uc001jhx.1_Silent_p.N558N|CHAT_uc001jhy.1_Silent_p.N558N|CHAT_uc001jia.2_Silent_p.N558N|CHAT_uc010qgs.1_Intron NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 676 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGGTCCCAAATGGGTATGGTG 0.537 NaN 0 0 0 0.01441 0 48 137 KIAA0913 23053 broad.mit.edu 37 10 75545836 75545836 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:75545836G>A uc009xrl.2 + 1 232 c.200G>A c.(199-201)AGA>AAA p.R67K KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.R67K|KIAA0913_uc001jvf.2_Missense_Mutation_p.R67K|uc009xrm.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 67 zinc ion binding breast(1) 1 Prostate(51;0.0112) GGCGGTACCAGAATGCGAGGT 0.692 NaN 0 0 0 0.004672 0 3 10 CEP55 55165 broad.mit.edu 37 10 95287764 95287764 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:95287764G>A uc009xug.2 + 9 1431 c.1249G>A c.(1249-1251)GAA>AAA p.E417K CEP55_uc001kiq.3_Missense_Mutation_p.E417K NM_001127182 NP_001120654 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 417 Required for localization to the interphase centrosome and to the midbody during cytokinesis. cell division|mitosis centriole|cleavage furrow|midbody 0 Colorectal(252;0.207) AGGAGAGACTGAAAACAGAGA 0.418 NaN 0 0 0 0.001855 0 12 26 ZNF518A 9849 broad.mit.edu 37 10 97920088 97920088 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:97920088C>T uc001klp.2 + 6 4866 c.4009C>T c.(4009-4011)CTT>TTT p.L1337F ZNF518A_uc001klo.1_Missense_Mutation_p.L807F|ZNF518A_uc001klq.2_Missense_Mutation_p.L1337F|ZNF518A_uc001klr.2_Missense_Mutation_p.L1337F NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTCTAAACAGCTTGTGAAATG 0.378 NaN 0 0 0 0.000602 0 5 15 SLIT1 6585 broad.mit.edu 37 10 98794286 98794286 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:98794286T>G uc001kmw.2 - 23 2632 c.2380A>C c.(2380-2382)AAC>CAC p.N794H SLIT1_uc009xvh.1_Intron NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 794 LRR 18. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGATCTTGTTGTTGCTCAGG 0.562 NaN 0 0 0 0.008361 0 29 37 CHUK 1147 broad.mit.edu 37 10 101977825 101977825 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:101977825C>G uc001kqp.2 - 9 915 c.860G>C c.(859-861)AGA>ACA p.R287T NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 287 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AGGTCCTCCTCTCTGCTGAGG 0.373 NaN 0 0 0 0.010729 0 12 7 NFKB2 4791 broad.mit.edu 37 10 104157318 104157318 + Silent SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:104157318A>G uc001kvb.2 + 8 802 c.537A>G c.(535-537)AAA>AAG p.K179K NFKB2_uc001kva.2_Silent_p.K179K|NFKB2_uc010qqk.1_Silent_p.K179K|NFKB2_uc001kvd.2_Silent_p.K179K|NFKB2_uc009xxc.2_Silent_p.K179K NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 179 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) AAGAGGCCAAAGAACTGAAGA 0.592 NaN T IGH@ B-NHL 0 0 0 0.004878 0 38 65 ABLIM1 3983 broad.mit.edu 37 10 116247730 116247730 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:116247730T>A uc010qsg.1 - 8 1127 c.1028A>T c.(1027-1029)GAG>GTG p.E343V ABLIM1_uc010qsh.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsi.1_Missense_Mutation_p.E283V|ABLIM1_uc010qsk.1_Missense_Mutation_p.E267V|ABLIM1_uc009xyp.2_Missense_Mutation_p.E277V|ABLIM1_uc010qsf.1_Missense_Mutation_p.E27V|ABLIM1_uc009xyn.2_Missense_Mutation_p.E20V|ABLIM1_uc010qsj.1_Missense_Mutation_p.E20V|ABLIM1_uc009xyo.2_Missense_Mutation_p.E191V NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 343 LIM zinc-binding 4. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CAGCTTTTCCTCGGTCTTCGT 0.478 NaN 0 0 0 0.00333 0 23 60 PNLIP 5406 broad.mit.edu 37 10 118305637 118305637 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:118305637G>A uc001lcm.2 + 2 76 c.33G>A c.(31-33)CTG>CTA p.L11L NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 11 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CACTGCTGCTGGGAGCAGTAG 0.433 NaN 0 0 0 0.001855 0 13 25 WDR11 55717 broad.mit.edu 37 10 122624668 122624668 + Missense_Mutation SNP G G C rs145467317 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:122624668G>C uc010qtf.1 + 6 1061 c.823G>C c.(823-825)GTG>CTG p.V275L WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR NM_018117 NP_060587 Q9BZH6 WDR11_HUMAN bromodomain and WD repeat domain containing 2 275 integral to membrane 0 TGACCTTGAGGTGAATCAGAC 0.378 NaN 0 0 0 0.006122 0 19 28 DMBT1 1755 broad.mit.edu 37 10 124399605 124399605 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr10:124399605C>T uc001lgk.1 + 52 6711 c.6605C>T c.(6604-6606)TCA>TTA p.S2202L DMBT1_uc001lgl.1_Missense_Mutation_p.S2192L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1574L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2201L|DMBT1_uc010qtx.1_Missense_Mutation_p.S922L|DMBT1_uc009yab.1_Missense_Mutation_p.S905L|DMBT1_uc009yac.1_Missense_Mutation_p.S496L NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2202 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAGCTGTCTCAGGTGGCATC 0.522 NaN 0 0 0 0.008361 0 31 30 PKP3 11187 broad.mit.edu 37 11 404268 404268 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:404268C>T uc001lpc.2 + 12 2379 c.2303C>T c.(2302-2304)TCC>TTC p.S768F NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 768 cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGGCAGCATCCAGCCTCCTG 0.662 NaN 0 0 0 0.008361 0 27 55 TRAF6 7189 broad.mit.edu 37 11 36523047 36523047 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:36523047C>T uc001mwr.1 - 3 359 c.19G>A c.(19-21)GAA>AAA p.E7K TRAF6_uc001mws.1_Missense_Mutation_p.E7K NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 7 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) CAGCTGTTTTCACAGTTTAGC 0.448 NaN 0 0 0 0.010729 0 11 17 OR4A16 81327 broad.mit.edu 37 11 55110736 55110736 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:55110736T>A uc010rie.1 + 1 60 c.60T>A c.(58-60)GAT>GAA p.D20E NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AAGATCCTGATGTGAAAAAAA 0.413 NaN 0 0 0 0.001168 0 6 9 OR5L2 26338 broad.mit.edu 37 11 55595538 55595538 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:55595538A>T uc001nhy.1 + 1 844 c.844A>T c.(844-846)ATT>TTT p.I282F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CACAGTTGTGATTCCCATGCT 0.463 NaN HNSCC(27;0.073) 0 0 0 0.006214 0 8 9 OR8H1 219469 broad.mit.edu 37 11 56058390 56058390 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:56058390C>T uc010rje.1 - 1 149 c.149G>A c.(148-150)CGC>CAC p.R50H NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GAGGTCCAGGCGGATTATCAA 0.423 NaN 0 0 0 0.01441 0 80 115 UBE2L6 9246 broad.mit.edu 37 11 57319864 57319864 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:57319864G>A uc001nkn.1 - 4 525 c.429C>T c.(427-429)TTC>TTT p.F143F UBE2L6_uc001nko.1_Silent_p.F77F NM_004223 NP_004214 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 isoform 1 143 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity ovary(1) 1 ATCGGAGGGTGAACTCTTCGG 0.572 NaN 0 0 0 0.01441 0 71 99 SIPA1 6494 broad.mit.edu 37 11 65417623 65417623 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:65417623G>C uc001ofb.2 + 14 3030 c.2863G>C c.(2863-2865)GAG>CAG p.E955Q SIPA1_uc010rom.1_Missense_Mutation_p.E853Q|SIPA1_uc001ofd.2_Missense_Mutation_p.E955Q NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 955 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 GCCCATCCCAGAGAGTGGAGA 0.607 NaN 0 0 0 0.01441 0 43 76 MTL5 9633 broad.mit.edu 37 11 68517984 68517984 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:68517984A>T uc001ooc.2 - 2 285 c.145T>A c.(145-147)TTC>ATC p.F49I MTL5_uc001ood.1_Missense_Mutation_p.F49I|MTL5_uc009ysi.1_Missense_Mutation_p.F49I|MTL5_uc001ooe.2_Missense_Mutation_p.F49I NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 49 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GCTTCTTTGAAGACGTGGAAC 0.647 NaN 0 0 0 0.000602 0 5 15 CHORDC1 26973 broad.mit.edu 37 11 89956187 89956187 + Translation_Start_Site SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:89956187C>T uc001pdg.2 - 1 346 c.-64G>A c.(-66--62)GAGTG>GAATG CHORDC1_uc009yvz.2_Translation_Start_Site NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) GCGTTTGCCACTCCCGTGTCG 0.602 NaN 0 0 0 0.00308 0 7 12 ADAMTS8 11095 broad.mit.edu 37 11 130275730 130275730 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:130275730A>T uc001qgg.3 - 9 2751 c.2393T>A c.(2392-2394)TTC>TAC p.F798Y ADAMTS8_uc001qgf.2_Missense_Mutation_p.F279Y NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 798 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TTTTGGGGGGAAGACCTCGCC 0.567 NaN 0 0 0 0.01441 0 110 34 CACNA1C 775 broad.mit.edu 37 12 2786965 2786965 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:2786965G>A uc009zdu.1 + 43 5480 c.5167G>A c.(5167-5169)GCT>ACT p.A1723T CACNA1C_uc009zdv.1_Missense_Mutation_p.A1672T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1664T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1681T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1716T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1683T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1723T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1695T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1692T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1703T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1675T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1694T|CACNA1C_uc001qki.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1411T|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1400T|CACNA1C_uc010sea.1_Missense_Mutation_p.A366T|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1723 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGATCTCACCGCTGAGGAGGA 0.612 NaN 0 0 0 0.008361 0 30 18 ATN1 1822 broad.mit.edu 37 12 7043167 7043167 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:7043167G>A uc001qrw.1 + 2 240 c.3G>A c.(1-3)ATG>ATA p.M1I ATN1_uc001qrx.1_Missense_Mutation_p.M1I|ATN1_uc001qry.1_Missense_Mutation_p.M1I NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 1 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCTGAAGAATGAAGACACGAC 0.517 NaN 0 0 0 0.001168 0 6 12 CD163 9332 broad.mit.edu 37 12 7655119 7655119 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:7655119T>G uc001qsz.3 - 2 216 c.88A>C c.(88-90)ACT>CCT p.T30P CD163_uc001qta.3_Missense_Mutation_p.T30P|CD163_uc009zfw.2_Missense_Mutation_p.T30P NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 30 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 aagaccacagtaatggtgaag 0.234 NaN 0 0 0 0.004672 0 2 5 A2ML1 144568 broad.mit.edu 37 12 8988145 8988145 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:8988145C>T uc001quz.3 + 6 624 c.526C>T c.(526-528)CCT>TCT p.P176S NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 20 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGAAGTGGTACCTGAGCAAGG 0.527 NaN 0 0 0 0.006122 0 17 53 A2M 2 broad.mit.edu 37 12 9232332 9232332 + Silent SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:9232332G>C uc001qvk.1 - 24 3047 c.2934C>G c.(2932-2934)GTC>GTG p.V978V A2M_uc001qvj.1_Silent_p.V20V|A2M_uc009zgk.1_Silent_p.V828V NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 978 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GAGCAAAGAGGACCATATTCT 0.453 NaN 0 0 0 0.001984 0 5 7 GPR19 2842 broad.mit.edu 37 12 12814505 12814505 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:12814505T>C uc001rar.3 - 2 1071 c.878A>G c.(877-879)CAT>CGT p.H293R GPR19_uc001raq.2_Missense_Mutation_p.H293R NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 293 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) CTGAGCTACATGAAAAGGCAG 0.408 NaN 0 0 0 0.004482 0 9 23 PLEKHA9 51054 broad.mit.edu 37 12 45567437 45567437 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:45567437A>G uc001rom.1 - 3 1249 c.712T>C c.(712-714)TTT>CTT p.F238L PLEKHA9_uc009zke.2_Missense_Mutation_p.F238L NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) ACAGGAGCAAACACTGTAGGG 0.393 NaN 0 0 0 0.01441 0 70 70 ESPL1 9700 broad.mit.edu 37 12 53670542 53670542 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:53670542G>A uc001sck.2 + 8 1930 c.1839G>A c.(1837-1839)CTG>CTA p.L613L ESPL1_uc001scj.2_Silent_p.L288L|ESPL1_uc010soe.1_5'Flank NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 613 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TCCTGGAGCTGAGCCCCGAGG 0.642 NaN 0 0 0 0.003163 0 15 52 MMP19 4327 broad.mit.edu 37 12 56236139 56236139 + Silent SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:56236139C>A uc001sib.2 - 2 292 c.171G>T c.(169-171)CTG>CTT p.L57L MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.L57L NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 57 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 CTTCTCACCTCAGAGCCTCGG 0.502 NaN 1 0 1.64293e-13 0.00333 1.79891e-13 24 74 LRP1 4035 broad.mit.edu 37 12 57550039 57550039 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:57550039A>G uc001snd.2 + 9 1856 c.1390A>G c.(1390-1392)ATC>GTC p.I464V NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 464 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCCCTCCACATCTACCACCA 0.607 NaN 0 0 0 0.00308 0 8 39 GLI1 2735 broad.mit.edu 37 12 57865459 57865459 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:57865459A>G uc001snx.2 + 12 3014 c.2936A>G c.(2935-2937)AAT>AGT p.N979S GLI1_uc009zpq.2_Missense_Mutation_p.N851S NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 979 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) GTGGGGGCAAATAGGGCTTCA 0.537 NaN 0 0 0 0.004656 0 27 86 E2F7 144455 broad.mit.edu 37 12 77458337 77458337 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:77458337C>G uc001sym.3 - 2 315 c.79G>C c.(79-81)GAA>CAA p.E27Q E2F7_uc001syn.2_Missense_Mutation_p.E27Q NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 27 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 TGTGCATTTTCCCCATCTTCA 0.373 NaN 0 0 0 0.010504 0 19 58 KERA 11081 broad.mit.edu 37 12 91449916 91449916 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:91449916C>G uc001tbl.2 - 2 762 c.143G>C c.(142-144)TGC>TCC p.C48S NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 48 LRRNT.|Cys-rich. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 ACTGGGTGGGCAGAAACATTC 0.393 NaN 0 0 0 0.000602 0 4 6 IKBIP 121457 broad.mit.edu 37 12 99038453 99038453 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:99038453C>A uc001tfv.2 - 1 137 c.27G>T c.(25-27)AAG>AAT p.K9N APAF1_uc001tfy.2_5'Flank|APAF1_uc001tfz.2_5'Flank|APAF1_uc001tga.2_5'Flank|APAF1_uc001tgb.2_5'Flank|APAF1_uc001tgc.2_5'Flank|IKBIP_uc001tfw.2_Missense_Mutation_p.K9N|IKBIP_uc001tfx.2_Missense_Mutation_p.K9N NM_201612 NP_963906 Q70UQ0 IKIP_HUMAN IKK interacting protein isoform 2 9 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding 0 TGGGCCCCGACTTCTTCCGGC 0.706 NaN 1 0 1.05317e-09 0.00245 1.13167e-09 12 34 UTP20 27340 broad.mit.edu 37 12 101745949 101745949 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:101745949G>C uc001tia.1 + 39 5157 c.5001G>C c.(4999-5001)CAG>CAC p.Q1667H NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1667 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 AAACGGGACAGATCAATCAAA 0.299 NaN 0 0 0 0.001855 0 12 43 UTP20 27340 broad.mit.edu 37 12 101760349 101760349 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:101760349C>T uc001tia.1 + 47 6295 c.6139C>T c.(6139-6141)CCA>TCA p.P2047S NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2047 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TCCAGTAGCCCCAGCACCAGA 0.512 NaN 0 0 0 0.01441 0 45 39 DNAH10 196385 broad.mit.edu 37 12 124341734 124341734 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:124341734C>T uc001uft.3 + 36 6241 c.6216C>T c.(6214-6216)GAC>GAT p.D2072D NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2072 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTACCCTGACTTCAACGATG 0.532 NaN 0 0 0 0.00499 0 17 54 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs28513925 by1000genomes TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr12:132547093A>G uc001ujn.2 + 46 8216 c.8181A>G c.(8179-8181)CAA>CAG p.Q2727Q EP400_uc001ujl.2_Silent_p.Q2726Q|EP400_uc001ujm.2_Silent_p.Q2646Q|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2763 Poly-Gln.|Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.294 NaN 0 0 0 0.004672 0 3 55 FAM124A 220108 broad.mit.edu 37 13 51855235 51855235 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr13:51855235G>T uc001vfg.1 + 4 1615 c.1484G>T c.(1483-1485)CGT>CTT p.R495L FAM124A_uc001vff.1_Missense_Mutation_p.R531L NM_145019 NP_659456 Q86V42 F124A_HUMAN hypothetical protein LOC220108 495 central_nervous_system(1) 1 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) GCGACAGCTCGTGCTGCTCCC 0.612 NaN 1 0 1.39806e-14 0.008361 1.54545e-14 28 46 ABCC4 10257 broad.mit.edu 37 13 95840790 95840790 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr13:95840790C>T uc001vmd.3 - 10 1389 c.1270G>A c.(1270-1272)GAG>AAG p.E424K ABCC4_uc010afk.2_Missense_Mutation_p.E424K|ABCC4_uc001vme.2_Missense_Mutation_p.E424K|ABCC4_uc010tih.1_Missense_Mutation_p.E349K|ABCC4_uc001vmf.2_Missense_Mutation_p.E381K|ABCC4_uc010afl.1_Missense_Mutation_p.E381K|ABCC4_uc010afm.1_Missense_Mutation_p.E437K NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 424 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GTTGGGGTCTCTGATGCCTAC 0.418 NaN 0 0 0 0.00333 0 25 49 AP1G2 8906 broad.mit.edu 37 14 24029009 24029009 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:24029009C>T uc001wkl.2 - 22 2644 c.2307G>A c.(2305-2307)TCG>TCA p.S769S AP1G2_uc001wkj.2_Silent_p.S388S|AP1G2_uc001wkk.3_Silent_p.S697S|AP1G2_uc001wkn.2_Silent_p.S388S|uc001wko.1_5'Flank NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 769 GAE. interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) TCTCCTGCACCGACTGGTGAA 0.562 NaN OREG0022604 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 9 39 NYNRIN 57523 broad.mit.edu 37 14 24884981 24884981 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:24884981C>T uc001wpf.3 + 9 4344 c.4026C>T c.(4024-4026)TCC>TCT p.S1342S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1342 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 TCTCCCTTTCCTTCTCCTGCT 0.607 NaN 0 0 0 0.01441 0 96 122 FOXA1 3169 broad.mit.edu 37 14 38061313 38061313 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:38061313C>T uc001wuf.2 - 2 988 c.676G>A c.(676-678)GAC>AAC p.D226N FOXA1_uc010tpz.1_Missense_Mutation_p.D193N NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 226 Fork-head. chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) ACGAAGCAGTCATTGAAGGAC 0.607 NaN 0 0 0 0.00874 0 35 30 NIN 51199 broad.mit.edu 37 14 51224125 51224125 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:51224125A>T uc001wym.2 - 18 3814 c.3623T>A c.(3622-3624)ATG>AAG p.M1208K NIN_uc001wyi.2_Missense_Mutation_p.M1208K|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.M1214K|NIN_uc001wyo.2_Missense_Mutation_p.M1208K NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1208 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) ACATAACATCATTAGCTGTTC 0.418 NaN T PDGFRB MPD 0 0 0 0.01441 0 51 80 KTN1 3895 broad.mit.edu 37 14 56107858 56107858 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:56107858G>C uc001xcb.2 + 18 2337 c.2035G>C c.(2035-2037)GAT>CAT p.D679H KTN1_uc001xce.2_Missense_Mutation_p.D679H|KTN1_uc001xcc.2_Missense_Mutation_p.D679H|KTN1_uc001xcd.2_Missense_Mutation_p.D679H|KTN1_uc010trb.1_Missense_Mutation_p.D679H|KTN1_uc001xcf.1_Missense_Mutation_p.D679H NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 679 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TTATGTTAAAGATGATAAAAT 0.303 NaN T RET papillary thryoid 0 0 0 0.001984 0 7 14 C14orf37 145407 broad.mit.edu 37 14 58605192 58605192 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:58605192T>G uc001xdc.2 - 2 996 c.885A>C c.(883-885)GAA>GAC p.E295D C14orf37_uc010tro.1_Missense_Mutation_p.E333D|C14orf37_uc001xdd.2_Missense_Mutation_p.E295D|C14orf37_uc001xde.2_Missense_Mutation_p.E295D NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 295 Extracellular (Potential). integral to membrane binding 0 TCACTGTGACTTCTGGGGCTC 0.532 NaN 0 0 0 0.00874 0 44 69 C14orf37 145407 broad.mit.edu 37 14 58605935 58605935 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:58605935C>A uc001xdc.2 - 2 253 c.142G>T c.(142-144)GAT>TAT p.D48Y C14orf37_uc010tro.1_Missense_Mutation_p.D86Y|C14orf37_uc001xdd.2_Missense_Mutation_p.D48Y|C14orf37_uc001xde.2_Missense_Mutation_p.D48Y NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 48 Extracellular (Potential). integral to membrane binding 0 TTCATCTTATCGGACTGCCCT 0.478 NaN 1 0 1.42676e-28 0.01441 1.64553e-28 62 106 ACOT2 10965 broad.mit.edu 37 14 74040235 74040235 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:74040235G>C uc001xon.3 + 2 960 c.787G>C c.(787-789)GAG>CAG p.E263Q ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Missense_Mutation_p.E66Q NM_006821 NP_006812 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 263 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CAAGACCATGGAGACGCTCCA 0.488 NaN 0 0 0 0.01441 0 60 101 ANGEL1 23357 broad.mit.edu 37 14 77273074 77273074 + Silent SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr14:77273074G>T uc001xsv.2 - 5 1178 c.1065C>A c.(1063-1065)GGC>GGA p.G355G ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 355 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GTAGCTCCAAGCCAGGCCGGA 0.572 NaN 1 0 1.73998e-50 0.01441 2.02705e-50 108 130 C15orf55 256646 broad.mit.edu 37 15 34648800 34648800 + Nonsense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr15:34648800G>A uc001zif.2 + 7 2662 c.2507G>A c.(2506-2508)TGG>TAG p.W836* C15orf55_uc010ucc.1_Nonsense_Mutation_p.W864*|C15orf55_uc010ucd.1_Nonsense_Mutation_p.W854* NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 836 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AGTGATCTGTGGGCAGAAGGT 0.517 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.00499 0 14 36 SLC30A4 7782 broad.mit.edu 37 15 45814250 45814250 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr15:45814250C>T uc001zvj.2 - 2 615 c.303G>A c.(301-303)CAG>CAA p.Q101Q C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 101 Cytoplasmic (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) GTATCTCTCTCTGTTTGCTGC 0.478 NaN 0 0 0 0.005524 0 36 87 AP4E1 23431 broad.mit.edu 37 15 51289630 51289630 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr15:51289630T>A uc001zyx.1 + 18 2484 c.2454T>A c.(2452-2454)TTT>TTA p.F818L AP4E1_uc010bex.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 818 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) GTTCTTCCTTTAGTTCTTTGT 0.353 NaN 0 0 0 0.000602 0 4 13 SMAD3 4088 broad.mit.edu 37 15 67479786 67479786 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr15:67479786C>A uc002aqj.2 + 8 1391 c.1093C>A c.(1093-1095)CAG>AAG p.Q365K SMAD3_uc010ujr.1_Missense_Mutation_p.Q260K|SMAD3_uc010ujs.1_Missense_Mutation_p.Q321K|SMAD3_uc010ujt.1_Missense_Mutation_p.Q170K NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 365 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GGCTGTCTACCAGTTGACCCG 0.557 NaN 1 0 6.60958e-23 0.01441 7.52274e-23 59 34 ALPK3 57538 broad.mit.edu 37 15 85401422 85401422 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr15:85401422C>T uc002ble.2 + 6 4226 c.4059C>T c.(4057-4059)CTC>CTT p.L1353L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 1353 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGACAGGTCTCCCGGCAGCTA 0.642 NaN 0 0 0 0.000602 0 3 14 USP31 57478 broad.mit.edu 37 16 23083506 23083506 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:23083506G>A uc002dll.2 - 15 2348 c.2348C>T c.(2347-2349)TCT>TTT p.S783F USP31_uc002dlk.2_Missense_Mutation_p.S55F|USP31_uc010vca.1_Missense_Mutation_p.S86F|USP31_uc010bxm.2_Missense_Mutation_p.S71F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 783 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) ACACAGGGAAGAACTTGTGGA 0.622 NaN 0 0 0 0.007413 0 20 27 TNRC6A 27327 broad.mit.edu 37 16 24802570 24802570 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:24802570C>T uc002dmm.2 + 6 2721 c.2607C>T c.(2605-2607)GCC>GCT p.A869A TNRC6A_uc010bxs.2_Silent_p.A616A|TNRC6A_uc010vcc.1_Silent_p.A616A|TNRC6A_uc002dmn.2_Silent_p.A616A|TNRC6A_uc002dmo.2_Silent_p.A616A NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 869 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GGGGTGAGGCCAATAAGAAAT 0.463 NaN 0 0 0 0.000602 0 5 48 APOB48R 55911 broad.mit.edu 37 16 28509168 28509168 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:28509168G>C uc002dqb.1 + 3 2789 c.2779G>C c.(2779-2781)GAG>CAG p.E927Q uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.E465Q NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 927 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 CAAGGAGACTGAGCCAGAAAG 0.662 NaN 0 0 0 0.001984 0 7 10 CORO1A 11151 broad.mit.edu 37 16 30199868 30199868 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:30199868G>A uc002dww.2 + 10 1374 c.1252G>A c.(1252-1254)GCA>ACA p.A418T uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.A418T|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.A312T|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 418 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CAGGAGGGCAGCACCAGAGGC 0.657 NaN 0 0 0 0.012319 0 21 16 POLR2C 5432 broad.mit.edu 37 16 57504205 57504205 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:57504205T>C uc002elt.1 + 8 708 c.622T>C c.(622-624)TAC>CAC p.Y208H NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 208 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|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|protein dimerization activity 0 AAAGAGTGAGTACTCGGAGCT 0.547 NaN 0 0 0 0.008291 0 10 14 CIRH1A 84916 broad.mit.edu 37 16 69199282 69199282 + Silent SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:69199282T>C uc002ews.3 + 15 1782 c.1686T>C c.(1684-1686)GAT>GAC p.D562D CIRH1A_uc002ewr.2_Silent_p.D562D|CIRH1A_uc002ewt.3_Silent_p.D479D|CIRH1A_uc010cfi.2_Silent_p.D364D NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 562 WD 11. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) AGTATACAGATTGGAGCCGGA 0.488 NaN 0 0 0 0.003755 0 32 44 RFWD3 55159 broad.mit.edu 37 16 74695239 74695239 + Nonsense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:74695239G>A uc002fda.2 - 2 207 c.109C>T c.(109-111)CAG>TAG p.Q37* RFWD3_uc010cgq.2_Nonsense_Mutation_p.Q37* NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 37 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 GGAACAGGCTGGAGGAGGGCT 0.587 NaN 0 0 0 0.01441 0 93 124 CLEC3A 10143 broad.mit.edu 37 16 78064707 78064707 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:78064707G>C uc002ffh.3 + 3 644 c.563G>C c.(562-564)AGA>ACA p.R188T NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 188 C-type lectin. skeletal system development extracellular region sugar binding 0 AGCAGCAAGAGATACATATGC 0.483 NaN 0 0 0 0.00308 0 7 41 IL17C 27189 broad.mit.edu 37 16 88706293 88706293 + Missense_Mutation SNP A A C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:88706293A>C uc002fla.2 + 3 456 c.407A>C c.(406-408)GAT>GCT p.D136A NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 136 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) GGCTGTATCGATGCACGGACG 0.687 NaN 0 0 0 0.008291 0 11 9 ZNF778 197320 broad.mit.edu 37 16 89294114 89294114 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:89294114G>C uc002fmv.2 + 6 1673 c.1334G>C c.(1333-1335)GGA>GCA p.G445A ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.G403A|ZNF778_uc010vpg.1_Missense_Mutation_p.G208A NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) ACTCACACTGGAGAGAAACCA 0.493 NaN 0 0 0 0.01441 0 52 63 ANKRD11 29123 broad.mit.edu 37 16 89346334 89346334 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:89346334C>G uc002fmx.1 - 9 7077 c.6616G>C c.(6616-6618)GAG>CAG p.E2206Q ANKRD11_uc002fmy.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.E2206Q|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E2163Q NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2206 Pro-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCTGAGGGCTCAGGCTCGAGC 0.672 NaN 0 0 0 0.004482 0 8 18 ANKRD11 29123 broad.mit.edu 37 16 89357082 89357082 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:89357082G>A uc002fmx.1 - 6 1013 c.552C>T c.(550-552)ATC>ATT p.I184I ANKRD11_uc002fmy.1_Silent_p.I184I|ANKRD11_uc002fnc.1_Silent_p.I184I|ANKRD11_uc002fnd.2_Silent_p.I150I|ANKRD11_uc002fne.2_Silent_p.I150I|ANKRD11_uc002fnb.1_Silent_p.I141I NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 184 ANK 1. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGAGCTCTTTGATGCGCCGGG 0.622 NaN 0 0 0 0.01441 0 40 59 ANKRD11 29123 broad.mit.edu 37 16 89357086 89357086 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:89357086C>T uc002fmx.1 - 6 1009 c.548G>A c.(547-549)CGC>CAC p.R183H ANKRD11_uc002fmy.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnc.1_Missense_Mutation_p.R183H|ANKRD11_uc002fnd.2_Missense_Mutation_p.R149H|ANKRD11_uc002fne.2_Missense_Mutation_p.R149H|ANKRD11_uc002fnb.1_Missense_Mutation_p.R140H NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 183 ANK 1. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CTCTTTGATGCGCCGGGCGTC 0.627 NaN 0 0 0 0.01441 0 41 59 FANCA 2175 broad.mit.edu 37 16 89857865 89857865 + Silent SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:89857865G>C uc002fou.1 - 14 1347 c.1305C>G c.(1303-1305)CGC>CGG p.R435R FANCA_uc010vpn.1_Silent_p.R435R NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 435 R -> C (in FA). DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GTGCTGCCTGGCGCACAACCA 0.552 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.007413 0 18 18 MYO1C 4641 broad.mit.edu 37 17 1381474 1381474 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:1381474G>A uc002fsp.2 - 12 1528 c.1308C>T c.(1306-1308)TTC>TTT p.F436F MYO1C_uc002fsn.2_Silent_p.F417F|MYO1C_uc002fso.2_Silent_p.F401F|MYO1C_uc010vqj.1_Silent_p.F401F|MYO1C_uc010vqk.1_Silent_p.F412F NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 436 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AATTGATGCAGAACTGCTCAA 0.582 NaN 0 0 0 0.009535 0 32 14 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:7578478G>T uc002gim.2 - 5 646 c.452C>A c.(451-453)CCC>CAC p.P151H TP53_uc002gig.1_Missense_Mutation_p.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (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.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607 111 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) 1 0 7.92952e-12 0.003954 8.5738e-12 23 8 MYH3 4621 broad.mit.edu 37 17 10542927 10542927 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:10542927C>T uc002gmq.1 - 22 2952 c.2875G>A c.(2875-2877)GAG>AAG p.E959K NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 959 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 AGGGTCAACTCAAGGTCATCA 0.453 NaN 0 0 0 0.01441 0 127 56 NEK8 284086 broad.mit.edu 37 17 27065197 27065197 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:27065197G>A uc002hcp.2 + 8 1156 c.1156G>A c.(1156-1158)GAG>AAG p.E386K NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 386 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GCGTTTCCTGGAGGGCCAGTC 0.657 NaN 0 0 0 0.007413 0 16 31 NEK8 284086 broad.mit.edu 37 17 27065214 27065214 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:27065214G>A uc002hcp.2 + 8 1173 c.1173G>A c.(1171-1173)GTG>GTA p.V391V NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 391 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) AGTCGGGTGTGACCATCAAGC 0.642 NaN 0 0 0 0.010504 0 19 33 PSMD11 5717 broad.mit.edu 37 17 30800897 30800897 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:30800897C>G uc010cta.1 + 7 762 c.722C>G c.(721-723)TCC>TGC p.S241C PSMD11_uc010wbz.1_Missense_Mutation_p.S241C|PSMD11_uc002hhm.2_Missense_Mutation_p.S241C NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 241 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) GGTTATGACTCCATCGACAGC 0.453 NaN 0 0 0 0.009096 0 4 73 MLLT6 4302 broad.mit.edu 37 17 36872640 36872640 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:36872640C>G uc002hqi.3 + 10 1070 c.1057C>G c.(1057-1059)CCT>GCT p.P353A MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 353 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GCAGAGCTCCCCTGACTTCTC 0.622 NaN T MLL AL 0 0 0 0.007413 0 18 28 KRT39 390792 broad.mit.edu 37 17 39116697 39116697 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:39116697C>T uc002hvo.1 - 6 1089 c.1053G>A c.(1051-1053)CTG>CTA p.L351L KRT39_uc010wfm.1_Silent_p.L84L NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 351 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) GGATCTGGGTCAGCAAGGCCG 0.502 NaN 0 0 0 0.01441 0 45 85 CD300LG 146894 broad.mit.edu 37 17 41925958 41925958 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:41925958A>T uc002iem.2 + 2 117 c.76A>T c.(76-78)AGC>TGC p.S26C CD300LG_uc002iek.1_Missense_Mutation_p.S26C|CD300LG_uc002iel.1_Missense_Mutation_p.S26C|CD300LG_uc010czk.2_Missense_Mutation_p.S26C|CD300LG_uc010wil.1_Missense_Mutation_p.S26C|CD300LG_uc010czl.2_Missense_Mutation_p.S26C NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 26 Extracellular (Potential).|Ig-like V-type. apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) AGAGGAAATCAGCGGGTTCGA 0.562 NaN 0 0 0 0.004289 0 35 55 GPATCH8 23131 broad.mit.edu 37 17 42475276 42475276 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:42475276G>A uc002igw.1 - 8 4233 c.4169C>T c.(4168-4170)GCC>GTC p.A1390V GPATCH8_uc002igv.1_Missense_Mutation_p.A1312V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1312V NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1390 Poly-Ala. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AATGCCGATGGCGGCAGCAGC 0.577 NaN 0 0 0 0.001984 0 6 38 CLTC 1213 broad.mit.edu 37 17 57754351 57754351 + Silent SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:57754351T>A uc002ixq.1 + 17 3041 c.2598T>A c.(2596-2598)ATT>ATA p.I866I CLTC_uc002ixp.2_Silent_p.I866I|CLTC_uc002ixr.1_Silent_p.I870I NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 866 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) AGGCCAGAATTCATGAGGGCT 0.408 NaN T ALK|TFE3 ALCL|renal 0 0 0 0.00308 0 8 14 CSH2 1443 broad.mit.edu 37 17 61949641 61949641 + Nonsense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:61949641G>A uc002jch.2 - 5 614 c.499C>T c.(499-501)CAG>TAG p.Q167* CSH2_uc002jcg.2_Nonsense_Mutation_p.Q72*|CSH2_uc002jci.2_3'UTR|GH2_uc002jcj.2_Silent_p.S165S|CSH2_uc002jck.2_Nonsense_Mutation_p.Q167* NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 167 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 CTGTAGGTCTGCTTGAGGATC 0.557 NaN 0 0 0 0.01441 0 76 106 CSH2 1443 broad.mit.edu 37 17 61950572 61950572 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:61950572C>T uc002jch.2 - 2 253 c.138G>A c.(136-138)GCG>GCA p.A46A CSH2_uc002jcg.2_Silent_p.A46A|CSH2_uc002jci.2_Silent_p.A46A|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Silent_p.A46A NM_020991 NP_066271 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 isoform 1 46 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding 0 CCAGCTGGTGCGCGCGATGGG 0.592 NaN 0 0 0 0.006999 0 21 112 SCN4A 6329 broad.mit.edu 37 17 62018842 62018842 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:62018842G>T uc002jds.1 - 24 4877 c.4800C>A c.(4798-4800)AAC>AAA p.N1600K NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1600 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CCACATTGAAGTTCTCCAGGA 0.532 NaN 1 0 1.57351e-24 0.003755 1.79682e-24 33 55 PSMD12 5718 broad.mit.edu 37 17 65353674 65353674 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:65353674G>A uc002jfy.2 - 2 215 c.129C>T c.(127-129)GTC>GTT p.V43V PSMD12_uc002jga.2_Intron|PSMD12_uc002jfz.2_5'UTR|PSMD12_uc010det.1_Silent_p.V43V NM_002816 NP_002807 O00232 PSD12_HUMAN proteasome 26S non-ATPase subunit 12 isoform 1 43 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) GGGTTTCAATGACTTCTTGAA 0.333 NaN 0 0 0 0.004289 0 35 139 RNF213 57674 broad.mit.edu 37 17 78320135 78320135 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:78320135C>G uc002jyh.1 + 4 2442 c.2219C>G c.(2218-2220)TCC>TGC p.S740C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GCCTTTCTCTCCAAGTCCAGC 0.532 NaN 0 0 0 0.007413 0 20 59 B3GNTL1 146712 broad.mit.edu 37 17 81006550 81006550 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr17:81006550T>C uc002kgg.1 - 2 186 c.172A>G c.(172-174)AGT>GGT p.S58G B3GNTL1_uc002kgf.1_5'UTR NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal 58 transferase activity, transferring glycosyl groups ovary(1)|pancreas(1) 2 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) CAAACCTTACTGGCATCATTG 0.507 NaN 0 0 0 0.01441 0 49 49 C18orf8 29919 broad.mit.edu 37 18 21110004 21110004 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr18:21110004G>A uc010xax.1 + 18 1628 c.1507G>A c.(1507-1509)GAA>AAA p.E503K C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.E127K|NPC1_uc010dlu.1_Intron NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 503 Mic1. ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) TTACCTACATGAACTTGTTAT 0.433 NaN 0 0 0 0.01441 0 193 158 MEP1B 4225 broad.mit.edu 37 18 29797898 29797898 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr18:29797898C>T uc002kxj.3 + 14 2108 c.2061C>T c.(2059-2061)AGC>AGT p.S687S NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 687 Cytoplasmic (Potential). digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 AAAGGATGAGCTCAAATCGAC 0.398 NaN 0 0 0 0.000602 0 4 22 MEP1B 4225 broad.mit.edu 37 18 29797900 29797900 + Nonsense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr18:29797900C>A uc002kxj.3 + 14 2110 c.2063C>A c.(2062-2064)TCA>TAA p.S688* NM_005925 NP_005916 Q16820 MEP1B_HUMAN meprin A beta precursor 688 Cytoplasmic (Potential). digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding ovary(2) 2 AGGATGAGCTCAAATCGACCA 0.393 NaN 1 0 2.56e-06 0.009096 2.68412e-06 3 22 C18orf22 79863 broad.mit.edu 37 18 77802217 77802217 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr18:77802217G>A uc002lns.2 + 5 712 c.574G>A c.(574-576)GAG>AAG p.E192K C18orf22_uc010drh.2_Intron|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.E25K NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 192 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) AGCTCTAGCTGAGGTAAGGTT 0.289 NaN 0 0 0 0.010729 0 11 24 RAX2 84839 broad.mit.edu 37 19 3771575 3771575 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:3771575T>G uc002lys.2 - 2 234 c.166A>C c.(166-168)AGC>CGC p.S56R RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Missense_Mutation_p.S102R NM_032753 NP_116142 Q96IS3 RAX2_HUMAN retina and anterior neural fold homeobox 2 56 Homeobox. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTCACGGCTGTACACATCC 0.637 NaN 0 0 0 0.010729 0 12 0 PLIN4 729359 broad.mit.edu 37 19 4512576 4512576 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:4512576T>C uc002mar.1 - 3 1354 c.1354A>G c.(1354-1356)AAG>GAG p.K452E PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 452 11.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 ACAGTGTCCTTGGTACCAGTT 0.577 NaN 0 0 0 0.01441 0 91 24 LONP1 9361 broad.mit.edu 37 19 5696709 5696709 + Missense_Mutation SNP G G A rs140317309 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:5696709G>A uc002mcx.2 - 11 1778 c.1745C>T c.(1744-1746)ACG>ATG p.T582M LONP1_uc002mcy.2_Missense_Mutation_p.T518M|LONP1_uc010duh.2_Missense_Mutation_p.T323M|LONP1_uc010dui.2_Missense_Mutation_p.T566M|LONP1_uc002mcz.2_Missense_Mutation_p.T386M NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 582 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GGGGTTCTCCGTCTTGGTCTT 0.632 NaN 0 0 0 0.008361 0 28 10 DNM2 1785 broad.mit.edu 37 19 10883300 10883300 + Silent SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:10883300A>G uc002mps.1 + 3 545 c.381A>G c.(379-381)CCA>CCG p.P127P DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P127P|DNM2_uc002mpv.1_Silent_p.P127P|DNM2_uc002mpu.1_Silent_p.P127P|DNM2_uc010dxl.1_Silent_p.P127P NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 127 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCTACTCGCCACACGGTAGGC 0.562 NaN 0 0 0 0.006122 0 17 11 CC2D1A 54862 broad.mit.edu 37 19 14038827 14038827 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:14038827C>T uc002mxo.2 + 23 2737 c.2438C>T c.(2437-2439)CCG>CTG p.P813L CC2D1A_uc002mxp.2_Missense_Mutation_p.P813L|CC2D1A_uc010dzh.2_Missense_Mutation_p.P382L NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 813 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GACCCTGTGCCGGCAGCTGTG 0.637 NaN 0 0 0 0.01441 0 52 24 HNRNPUL1 11100 broad.mit.edu 37 19 41770556 41770556 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:41770556G>A uc002oqb.3 + 1 437 c.148G>A c.(148-150)GCC>ACC p.A50T CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Intron|HNRNPUL1_uc002oqa.3_Intron|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Missense_Mutation_p.A50T|HNRNPUL1_uc002oqd.3_5'UTR|HNRNPUL1_uc010ehn.2_5'Flank|HNRNPUL1_uc010eho.2_5'Flank|HNRNPUL1_uc010xvy.1_5'Flank|HNRNPUL1_uc010ehl.1_Intron NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 50 Necessary for interaction with HRMT1L1. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 GGAGCTCGACGCCGACGACGA 0.746 NaN 0 0 0 0.001168 0 5 19 C19orf61 56006 broad.mit.edu 37 19 44251840 44251840 + Silent SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:44251840A>G uc002oxj.2 - 4 778 c.435T>C c.(433-435)CCT>CCC p.P145P C19orf61_uc002oxk.2_Silent_p.P145P|C19orf61_uc010eiy.1_Silent_p.P145P NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 145 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) TCTGGTACACAGGCTGTGTGG 0.677 NaN 0 0 0 0.001168 0 6 18 ERCC2 2068 broad.mit.edu 37 19 45855787 45855787 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:45855787C>T uc002pbj.2 - 21 2070 c.2023G>A c.(2023-2025)GGC>AGC p.G675S ERCC2_uc002pbh.2_Missense_Mutation_p.G238S|ERCC2_uc002pbi.2_Missense_Mutation_p.G368S|ERCC2_uc010ejz.2_Missense_Mutation_p.G597S|ERCC2_uc002pbk.2_Missense_Mutation_p.G651S NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 675 G -> R (in XP-D/CS; severe form). cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ACCATGAGGCCGTAGTCCGTC 0.597 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.004878 0 38 44 EML2 24139 broad.mit.edu 37 19 46141892 46141893 + Splice_Site DNP TC TC AA TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:46141892_46141893TC>AA uc002pcn.2 - 3 85 c.50_splice c.e3-1 p.E17_splice EML2_uc002pco.2_Splice_Site|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Splice_Site_p.E164_splice|EML2_uc010xxm.1_Splice_Site_p.E218_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.1_Splice_Site_p.E17_splice|EML2_uc010ekj.2_Splice_Site_p.E17_splice NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GGAGCCATCCTCTGCCAGGACA 0.559 NaN 0 0 0 0.004672 0 22 90 ZNF320 162967 broad.mit.edu 37 19 53384401 53384401 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:53384401C>T uc002qag.2 - 4 1169 c.978G>A c.(976-978)GAG>GAA p.E326E ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.E272E|ZNF320_uc002qai.2_Silent_p.E326E NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TGTAAGGTTTCTCTCCAGTGT 0.403 NaN 0 0 0 0.012319 0 23 43 LAIR2 3904 broad.mit.edu 37 19 55014120 55014121 + Translation_Start_Site DNP TC TC AA TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:55014120_55014121TC>AA uc002qgc.2 + 1 108_109 c.-14_-13TC>AA c.(-16--11)GTTCTG>GTAATG LAIR2_uc002qga.1_Intron|LAIR2_uc002qgb.1_Intron|LAIR2_uc002qgd.2_Translation_Start_Site|LAIR2_uc010erl.2_Translation_Start_Site NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) GCTGCAGAGTTCTGGGACCGGG 0.629 NaN 0 0 0 0.004672 0 11 72 NLRP9 338321 broad.mit.edu 37 19 56243884 56243884 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr19:56243884C>G uc002qly.2 - 2 1341 c.1313G>C c.(1312-1314)GGG>GCG p.G438A NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 438 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAAACAGTCCCCTCTCCTTTG 0.483 NaN 0 0 0 0.01441 0 73 87 NT5C1B 93034 broad.mit.edu 37 2 18764238 18764238 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:18764238A>T uc002rcz.2 - 7 1201 c.1097T>A c.(1096-1098)CTC>CAC p.L366H NT5C1B_uc002rcy.2_Missense_Mutation_p.L366H|NT5C1B_uc010exr.2_Missense_Mutation_p.L308H|NT5C1B_uc010yju.1_Missense_Mutation_p.L306H|NT5C1B_uc002rda.2_Missense_Mutation_p.L306H|NT5C1B_uc010yjv.1_Missense_Mutation_p.L383H|NT5C1B_uc010yjw.1_Missense_Mutation_p.L349H|NT5C1B_uc010exs.2_Missense_Mutation_p.L368H NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 366 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TAGATCACGGAGTCTAGCATT 0.473 NaN 0 0 0 0.004482 0 8 39 RHOB 388 broad.mit.edu 37 2 20647740 20647740 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:20647740G>A uc002rdv.2 + 1 906 c.514G>A c.(514-516)GAG>AAG p.E172K NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 172 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGAGGTCTTCGAGACGGCCAC 0.687 NaN 0 0 0 0.01441 0 58 75 XDH 7498 broad.mit.edu 37 2 31562461 31562461 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:31562461C>T uc002rnv.1 - 34 3747 c.3668G>A c.(3667-3669)CGT>CAT p.R1223H NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1223 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCTAGGGCCACGGGTGTGCAG 0.597 NaN 0 0 0 0.003271 0 35 56 BIRC6 57448 broad.mit.edu 37 2 32626345 32626345 + Silent SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:32626345T>C uc010ezu.2 + 7 1283 c.1149T>C c.(1147-1149)GAT>GAC p.D383D NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 383 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTTGTACGGATGGAACTGACA 0.473 NaN 0 0 0 0.01441 0 85 130 SLC8A1 6546 broad.mit.edu 37 2 40656252 40656252 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:40656252G>A uc002rrx.2 - 1 1193 c.1169C>T c.(1168-1170)GCT>GTT p.A390V SLC8A1_uc002rry.2_Missense_Mutation_p.A390V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A390V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A390V|SLC8A1_uc002rsb.1_Missense_Mutation_p.A390V|SLC8A1_uc010fan.1_Missense_Mutation_p.A390V|SLC8A1_uc002rsc.1_Missense_Mutation_p.A390V NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 390 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATGCTGACAGCCTTCCTTGC 0.453 NaN 0 0 0 0.006214 0 8 15 CYP26B1 56603 broad.mit.edu 37 2 72371249 72371249 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:72371249C>T uc002sih.1 - 2 298 c.298G>A c.(298-300)GAG>AAG p.E100K CYP26B1_uc010yra.1_Missense_Mutation_p.E83K|CYP26B1_uc010yrb.1_Intron NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 100 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CGCACGTTCTCCGCGCCGGTC 0.637 NaN 0 0 0 0.012213 0 35 59 MTHFD2 10797 broad.mit.edu 37 2 74432979 74432979 + Silent SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:74432979C>G uc002skk.2 + 2 328 c.249C>G c.(247-249)TCC>TCG p.S83S MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Silent_p.S83S|MTHFD2_uc010yrp.1_Intron NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 83 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) CAAGTCACTCCTATGTCCTCA 0.532 NaN 0 0 0 0.01441 0 41 56 KDM3A 55818 broad.mit.edu 37 2 86669240 86669240 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:86669240G>A uc002sri.3 + 2 397 c.70G>A c.(70-72)GAC>AAC p.D24N KDM3A_uc010ytj.1_Missense_Mutation_p.D24N|KDM3A_uc010ytk.1_Missense_Mutation_p.D24N NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 24 D -> G (in Ref. 2; CAH18459/CAH18373). androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 GTCCGCAGCCGACGGCAGCGA 0.642 NaN 0 0 0 0.004289 0 37 50 EIF2AK3 9451 broad.mit.edu 37 2 88885403 88885403 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:88885403T>C uc002stc.3 - 9 1808 c.1606A>G c.(1606-1608)ACA>GCA p.T536A NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 536 Cytoplasmic (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ATAAACGTTGTTGCTATGATA 0.343 NaN 0 0 0 0.00499 0 14 16 SEMA4C 54910 broad.mit.edu 37 2 97533612 97533612 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:97533612G>A uc002sxh.3 - 2 172 c.12C>T c.(10-12)CAC>CAT p.H4H SEMA4C_uc002sxg.3_5'Flank NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 4 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity skin(2) 2 AGACAGCCCAGTGTGGGGCCA 0.617 NaN 0 0 0 0.01441 0 61 96 SULT1C4 27233 broad.mit.edu 37 2 108998923 108998923 + Silent SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:108998923A>T uc002tea.1 + 3 751 c.378A>T c.(376-378)CTA>CTT p.L126L SULT1C4_uc002tdz.2_3'UTR|SULT1C4_uc010ywr.1_Intron|SULT1C4_uc002teb.1_Intron NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 126 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 CATCCTTGCTAGAGAAAAACT 0.403 NaN 0 0 0 0.01441 0 102 140 RANBP2 5903 broad.mit.edu 37 2 109382445 109382445 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:109382445C>T uc002tem.3 + 20 5576 c.5450C>T c.(5449-5451)GCT>GTT p.A1817V NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1817 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATTGCAGAAGCTCCTTCAGCT 0.408 NaN 0 0 0 0.001168 0 6 34 ANAPC1 64682 broad.mit.edu 37 2 112588951 112588951 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:112588951T>G uc002thi.2 - 21 2784 c.2537A>C c.(2536-2538)CAG>CCG p.Q846P NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 846 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 ACTCACCCACTGATAAATACT 0.383 NaN 0 0 0 0.00278 0 19 32 MBD5 55777 broad.mit.edu 37 2 149225912 149225912 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:149225912G>C uc002twm.3 + 9 1388 c.400G>C c.(400-402)GCA>CCA p.A134P MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.A134P|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 134 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACATCAGATGCAACTCCAGT 0.284 NaN 0 0 0 0.009096 0 4 5 COBLL1 22837 broad.mit.edu 37 2 165551575 165551575 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:165551575G>C uc010zcw.1 - 15 2766 c.2642C>G c.(2641-2643)ACT>AGT p.T881S COBLL1_uc002ucp.2_Missense_Mutation_p.T814S|COBLL1_uc002ucq.2_Missense_Mutation_p.T776S|COBLL1_uc010zcx.1_Missense_Mutation_p.T822S|COBLL1_uc002ucn.2_Missense_Mutation_p.T242S|COBLL1_uc002uco.2_Missense_Mutation_p.T545S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 852 ovary(2)|pancreas(1) 3 TTGGATGGCAGTTTCTTTCAC 0.428 NaN 0 0 0 0.00278 0 25 30 C2orf77 129881 broad.mit.edu 37 2 170505817 170505817 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:170505817C>T uc002ufe.2 - 8 1286 c.1192G>A c.(1192-1194)GAG>AAG p.E398K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 398 Potential. 0 TCTTTAGCCTCTATTTTTCTT 0.343 NaN 0 0 0 0.00245 0 12 30 SLC25A12 8604 broad.mit.edu 37 2 172669944 172669944 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:172669944C>A uc002uhh.2 - 11 1165 c.1076G>T c.(1075-1077)GGC>GTC p.G359V SLC25A12_uc010fqh.2_Missense_Mutation_p.G252V NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 359 Solcar 1. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGAGCCAGAGCCACGCTGGTT 0.443 NaN 1 0 3.10996e-30 0.01441 3.6109e-30 43 66 NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:178098945G>C uc002ulh.3 - 2 655 c.100C>G c.(100-102)CGA>GGA p.R34G NFE2L2_uc002ulg.3_Missense_Mutation_p.R18G|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18G|NFE2L2_uc002uli.3_Missense_Mutation_p.R18G|NFE2L2_uc010fra.2_Missense_Mutation_p.R18G|NFE2L2_uc010frb.2_Missense_Mutation_p.R18G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATACTTCTCGACTTACTCCA 0.368 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.010729 0 12 15 NIF3L1 60491 broad.mit.edu 37 2 201761879 201761879 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:201761879A>G uc002uwm.2 + 5 898 c.807A>G c.(805-807)ATA>ATG p.I269M NIF3L1_uc002uwl.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwn.2_Missense_Mutation_p.I242M|NIF3L1_uc002uwo.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwp.2_Missense_Mutation_p.I269M|NIF3L1_uc002uwq.2_Intron NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 269 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 TTGATCGAATAAAAAGACACC 0.428 NaN 0 0 0 0.004289 0 33 45 NRP2 8828 broad.mit.edu 37 2 206588590 206588590 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:206588590T>G uc002vaw.2 + 5 1537 c.746T>G c.(745-747)TTT>TGT p.F249C NRP2_uc002vat.2_Missense_Mutation_p.F249C|NRP2_uc002vau.2_Missense_Mutation_p.F249C|NRP2_uc002vav.2_Missense_Mutation_p.F249C|NRP2_uc002vax.2_Missense_Mutation_p.F249C|NRP2_uc002vay.2_Missense_Mutation_p.F249C|NRP2_uc010fud.2_Missense_Mutation_p.F249C NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 249 Extracellular (Potential).|CUB 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 TCCCTGACCTTTCACACGGAC 0.552 NaN 0 0 0 0.003163 0 15 16 MDH1B 130752 broad.mit.edu 37 2 207620047 207620047 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:207620047G>A uc002vbs.2 - 5 651 c.596C>T c.(595-597)ACG>ATG p.T199M MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.T199M|MDH1B_uc010fuj.2_Missense_Mutation_p.T101M|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 199 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CTCCACCTTCGTGCAGATGGA 0.572 NaN 0 0 0 0.010729 0 10 29 OBSL1 23363 broad.mit.edu 37 2 220427307 220427307 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:220427307G>A uc010fwk.2 - 8 2827 c.2770C>T c.(2770-2772)CGG>TGG p.R924W OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.R399W|OBSL1_uc002vmi.2_Missense_Mutation_p.R924W|OBSL1_uc002vmj.2_Missense_Mutation_p.R511W NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 924 Ig-like 7. 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) GCCCAGGGCCGGCATAGCTCA 0.652 NaN 0 0 0 0.001984 0 5 22 TRIP12 9320 broad.mit.edu 37 2 230650558 230650558 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:230650558C>T uc002vpw.1 - 33 4893 c.4784G>A c.(4783-4785)CGA>CAA p.R1595Q TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1595 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CAGCTCCTCTCGGTTCACAGT 0.453 NaN 0 0 0 0.008871 0 20 27 COL6A3 1293 broad.mit.edu 37 2 238305412 238305412 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr2:238305412G>A uc002vwl.2 - 2 334 c.49C>T c.(49-51)CTC>TTC p.L17F COL6A3_uc002vwo.2_Missense_Mutation_p.L17F|COL6A3_uc010znj.1_Missense_Mutation_p.L17F|COL6A3_uc002vwq.2_Missense_Mutation_p.L17F|COL6A3_uc002vwr.2_Missense_Mutation_p.L17F|COL6A3_uc010znk.1_Missense_Mutation_p.L17F NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 17 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAGCCTGAGAGAAAGAGGCAA 0.413 NaN 0 0 0 0.008291 0 9 56 RBCK1 10616 broad.mit.edu 37 20 389408 389408 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:389408G>A uc002wdp.3 + 1 700 c.7G>A c.(7-9)GAG>AAG p.E3K RBCK1_uc010zpl.1_Missense_Mutation_p.E3K|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.R9Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR|RBCK1_uc002wdo.2_RNA NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 3 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCAGATGGACGAGAAGACCAA 0.682 NaN 0 0 0 0.013537 0 11 8 SNRPB 6628 broad.mit.edu 37 20 2443347 2443347 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:2443347G>C uc002wfz.1 - 6 783 c.620C>G c.(619-621)CCT>CGT p.P207R SNRPB_uc002wga.1_Missense_Mutation_p.P207R|SNRPB_uc010zpv.1_Missense_Mutation_p.P128R|SNRPB_uc002wgb.2_Missense_Mutation_p.P207R NM_198216 NP_937859 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptide B/B' 207 Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|protein binding|RNA binding ovary(1) 1 CCCTCTTCCAGGGGGGATCCC 0.587 NaN 0 0 0 0.014323 0 24 80 INSM1 3642 broad.mit.edu 37 20 20349839 20349839 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:20349839C>G uc002wrx.2 + 1 1075 c.928C>G c.(928-930)CTG>GTG p.L310V NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 310 C2H2-type 2. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) CCCGGCCAACCTGGCCTCGCA 0.577 NaN 0 0 0 0.00308 0 7 7 GDF5 8200 broad.mit.edu 37 20 34022485 34022485 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:34022485C>T uc002xck.1 - 2 1047 c.728G>A c.(727-729)CGG>CAG p.R243Q GDF5_uc010gfc.1_Missense_Mutation_p.R243Q|uc002xcj.2_Missense_Mutation_p.P299L|GDF5_uc010zvc.1_Missense_Mutation_p.R243Q NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 243 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGGCTTCTTCCGCAAGATCCG 0.687 NaN 0 0 0 0.008361 0 31 107 MYBL2 4605 broad.mit.edu 37 20 42320809 42320810 + Missense_Mutation DNP TG TG CC TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:42320809_42320810TG>CC uc002xlb.1 + 6 728_729 c.513_514TG>CC c.(511-516)GCTGTG>GCCCTG p.V172L MYBL2_uc010zwj.1_Missense_Mutation_p.V148L|MYBL2_uc002xla.1_Missense_Mutation_p.V172L NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 172 HTH myb-type 3.|H-T-H motif (By similarity). nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAGACAATGCTGTGAAGAATCA 0.337 NaN 0 0 0 0.004672 0 37 52 WISP2 8839 broad.mit.edu 37 20 43355781 43355781 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:43355781G>A uc002xmn.2 + 5 939 c.586G>A c.(586-588)GAA>AAA p.E196K uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.E196K|WISP2_uc002xmq.2_Silent_p.Q113Q NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 196 TSP type-1. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CCCCTGCCCAGAATGGAGCAC 0.537 NaN 0 0 0 0.01441 0 45 78 COL9A3 1299 broad.mit.edu 37 20 61467685 61467685 + Silent SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:61467685G>C uc002ydm.2 + 28 1551 c.1548G>C c.(1546-1548)CCG>CCC p.P516P COL9A3_uc002ydn.2_5'Flank NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 516 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) CGGGAGTTCCGGTACGTCGCT 0.632 NaN 0 0 0 0.008361 0 27 43 SLC17A9 63910 broad.mit.edu 37 20 61597892 61597892 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr20:61597892C>T uc002yea.3 + 11 1261 c.1077C>T c.(1075-1077)AAC>AAT p.N359N SLC17A9_uc002ydz.3_Silent_p.N353N|SLC17A9_uc011aap.1_Silent_p.N379N NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 359 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 TTTCTGTTAACATCCAGGACT 0.637 NaN 0 0 0 0.004007 0 16 166 ITSN1 6453 broad.mit.edu 37 21 35147174 35147174 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:35147174G>C uc002yta.1 + 13 1715 c.1447G>C c.(1447-1449)GAA>CAA p.E483Q DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E446Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E367Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E483Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E446Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytc.1_Missense_Mutation_p.E483Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E446Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E483Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E417Q NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 483 Potential.|KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ATTTGAATTAGAAGCTCTAGT 0.299 NaN 0 0 0 0.001855 0 10 40 DOPEY2 9980 broad.mit.edu 37 21 37665692 37665692 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:37665692C>T uc002yvg.2 + 37 6799 c.6720C>T c.(6718-6720)ATC>ATT p.I2240I DOPEY2_uc011aeb.1_Silent_p.I2189I NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2240 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TTTCCAGCATCAGGCAGTTGA 0.458 NaN 0 0 0 0.003954 0 27 29 DOPEY2 9980 broad.mit.edu 37 21 37665713 37665713 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:37665713C>T uc002yvg.2 + 37 6820 c.6741C>T c.(6739-6741)TTC>TTT p.F2247F DOPEY2_uc011aeb.1_Silent_p.F2196F NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 2247 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TGCCATTCTTCATGACTCTAA 0.478 NaN 0 0 0 0.008361 0 31 33 BRWD1 54014 broad.mit.edu 37 21 40636520 40636520 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:40636520G>T uc002yxk.1 - 17 1890 c.1751C>A c.(1750-1752)CCT>CAT p.P584H BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.P584H|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.P37H|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.P304H NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CATAAGATGAGGAGCCTGCTG 0.393 NaN 1 0 4.7546e-09 0.004007 5.09317e-09 17 17 LCA5L 150082 broad.mit.edu 37 21 40783687 40783687 + Silent SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:40783687A>G uc002yxu.2 - 7 1330 c.1017T>C c.(1015-1017)CAT>CAC p.H339H LCA5L_uc002yxv.2_Silent_p.H339H NM_152505 NP_689718 O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 339 0 Prostate(19;1.2e-06) TAAGTATTCGATGACTATAGA 0.294 NaN 0 0 0 0.004007 0 14 30 DNMT3L 29947 broad.mit.edu 37 21 45666349 45666349 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr21:45666349C>T uc002zeg.1 - 12 1576 c.1092G>A c.(1090-1092)GTG>GTA p.V364V DNMT3L_uc002zeh.1_Silent_p.V365V NM_175867 NP_787063 Q9UJW3 DNM3L_HUMAN cytosine-5-methyltransferase 3-like protein 364 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding skin(2) 2 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) AGCAGTTCTTCACCAGCTTGG 0.473 NaN 0 0 0 0.006122 0 18 47 CACNA1I 8911 broad.mit.edu 37 22 40059831 40059831 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr22:40059831C>G uc003ayc.2 + 19 3582 c.3582C>G c.(3580-3582)ATC>ATG p.I1194M CACNA1I_uc003ayd.2_Missense_Mutation_p.I1159M|CACNA1I_uc003aye.2_Missense_Mutation_p.I1109M|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1074M NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1194 III.|Extracellular (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGCCTCAGATCGAGGCCGGCA 0.622 NaN 0 0 0 0.003271 0 30 101 ENTHD1 150350 broad.mit.edu 37 22 40283688 40283688 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr22:40283688C>G uc003ayg.2 - 2 316 c.65G>C c.(64-66)AGG>ACG p.R22T NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 22 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) AGTTGCTTCCCTGACTTTTAT 0.388 NaN 0 0 0 0.003163 0 15 48 RANGAP1 5905 broad.mit.edu 37 22 41652232 41652232 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr22:41652232C>T uc003azs.2 - 8 2421 c.951G>A c.(949-951)ATG>ATA p.M317I RANGAP1_uc003azt.2_Missense_Mutation_p.M317I|RANGAP1_uc003azu.2_Missense_Mutation_p.M317I|RANGAP1_uc011aoz.1_Missense_Mutation_p.M262I NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 317 LRR 5. mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 CTTTGTCTGCCATGGCCTCAG 0.572 NaN 0 0 0 0.01441 0 44 57 SYN2 6854 broad.mit.edu 37 3 12211351 12211351 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:12211351T>C uc003bwm.2 + 14 1417 c.1253T>C c.(1252-1254)CTG>CCG p.L418P SYN2_uc003bwl.1_Missense_Mutation_p.L418P|SYN2_uc003bwn.2_Missense_Mutation_p.L92P NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 418 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 AACCAGCTGCTGTCCAGGACT 0.542 NaN 0 0 0 0.009096 0 4 15 TTC21A 199223 broad.mit.edu 37 3 39180207 39180207 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:39180207C>T uc003cjc.2 + 29 4068 c.3891C>T c.(3889-3891)CTC>CTT p.L1297L TTC21A_uc003cje.2_Silent_p.L1298L|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.L1249L|TTC21A_uc003cjf.2_Silent_p.L418L NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 1297 TPR 19. binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TCCAGGTCCTCAGGGAGCACC 0.587 NaN 0 0 0 0.01441 0 45 25 ZNF589 51385 broad.mit.edu 37 3 48310197 48310197 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:48310197G>A uc003csl.3 + 4 1082 c.1016G>A c.(1015-1017)CGA>CAA p.R339Q ZNF589_uc010hjt.1_Missense_Mutation_p.R336Q|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Intron|ZNF589_uc003csm.2_Intron NM_016089 NP_057173 Q86UQ0 ZN589_HUMAN zinc finger protein 589 339 C2H2-type 4. regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTGTGTGGGCGAGGCTTTCGT 0.502 NaN 0 0 0 0.00499 0 16 84 COL7A1 1294 broad.mit.edu 37 3 48630366 48630366 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:48630366C>T uc003ctz.2 - 6 689 c.688G>A c.(688-690)GAC>AAC p.D230N NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 230 Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGGTCGAGTCATCCGCTGGG 0.587 NaN 0 0 0 0.00308 0 8 15 CELSR3 1951 broad.mit.edu 37 3 48689917 48689917 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:48689917G>T uc003cul.2 - 11 5985 c.5704C>A c.(5704-5706)CCC>ACC p.P1902T CELSR3_uc003cuf.1_Missense_Mutation_p.P1972T|CELSR3_uc010hkg.2_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1902 Extracellular (Potential).|Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCACTGCCGGGGGGCAGGCCT 0.637 NaN 1 0 6.42651e-13 0.010729 6.99237e-13 11 40 QARS 5859 broad.mit.edu 37 3 49141772 49141772 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:49141772C>T uc003cvx.2 - 2 255 c.250G>A c.(250-252)GAG>AAG p.E84K QARS_uc011bcd.1_5'UTR|QARS_uc003cvy.2_Intron|QARS_uc011bce.1_Intron|QARS_uc011bcf.1_Missense_Mutation_p.E84K NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 84 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGCTGGGGCTCAGTGTGGATC 0.562 NaN 0 0 0 0.01441 0 56 42 AMT 275 broad.mit.edu 37 3 49459597 49459597 + Silent SNP A A T rs151231828 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:49459597A>T uc003cww.2 - 2 327 c.198T>A c.(196-198)ACT>ACA p.T66T AMT_uc011bcn.1_Silent_p.T18T|AMT_uc003cwx.2_Silent_p.T66T|AMT_uc011bco.1_Silent_p.T66T|AMT_uc003cwy.2_Silent_p.T18T|AMT_uc011bcp.1_Intron|AMT_uc011bcq.1_Intron NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 66 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGTGCGAGTCAGTGTGACTGT 0.607 NaN 0 0 0 0.007413 0 18 75 PBRM1 55193 broad.mit.edu 37 3 52597459 52597459 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:52597459A>G uc003des.2 - 24 3938 c.3926T>C c.(3925-3927)ATC>ACC p.I1309T PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.I1309T|PBRM1_uc003der.2_Missense_Mutation_p.I1277T|PBRM1_uc003det.2_Missense_Mutation_p.I1324T|PBRM1_uc003deu.2_Missense_Mutation_p.I1324T|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.I1309T|PBRM1_uc010hmk.1_Missense_Mutation_p.I1284T|PBRM1_uc003dey.2_Missense_Mutation_p.I1284T|PBRM1_uc003dez.1_Missense_Mutation_p.I1308T NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1309 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TAGCAACTGGATCTTCTTTTC 0.403 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 0.006122 0 16 60 FLNB 2317 broad.mit.edu 37 3 58111396 58111396 + Silent SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:58111396T>C uc003djj.2 + 23 4152 c.3987T>C c.(3985-3987)TCT>TCC p.S1329S FLNB_uc010hne.2_Silent_p.S1329S|FLNB_uc003djk.2_Silent_p.S1329S|FLNB_uc010hnf.2_Silent_p.S1329S|FLNB_uc003djl.2_Silent_p.S1160S|FLNB_uc003djm.2_Silent_p.S1160S NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1329 Filamin 12.|Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GCCAGCCATCTAGGGTGCAAG 0.522 NaN 0 0 0 0.01441 0 54 44 DZIP3 9666 broad.mit.edu 37 3 108407451 108407451 + Silent SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:108407451A>G uc003dxd.2 + 30 3704 c.3282A>G c.(3280-3282)AAA>AAG p.K1094K DZIP3_uc003dxf.1_Silent_p.K1094K|DZIP3_uc011bhm.1_Silent_p.K545K NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 1094 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTCAAGGAAAATCAGTGTCAA 0.403 NaN 0 0 0 0.006122 0 19 24 SEMA5B 54437 broad.mit.edu 37 3 122631022 122631022 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:122631022G>A uc003efz.1 - 19 3197 c.2893C>T c.(2893-2895)CCA>TCA p.P965S SEMA5B_uc011bju.1_Missense_Mutation_p.P871S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.P965S|SEMA5B_uc003efy.1_Intron NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 965 Extracellular (Potential).|TSP type-1 4. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CTCATACCTGGGCAGGCCTGT 0.642 NaN 0 0 0 0.010729 0 11 13 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:126707544T>G uc003ejg.2 + 1 43 c.39T>G c.(37-39)GGT>GGG p.G13G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.567 NaN 0 0 0 0.005443 0 8 30 RAB43 339122 broad.mit.edu 37 3 128852989 128852989 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:128852989C>T uc003elo.1 - 9 802 c.591G>A c.(589-591)CTG>CTA p.L197L ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Silent_p.L197L|ISY1_uc010hta.1_Silent_p.L219L NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 CTCCTCTTGCCAGCCGAGCCT 0.428 NaN 0 0 0 0.001855 0 11 88 NAALADL2 254827 broad.mit.edu 37 3 175184817 175184817 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:175184817G>A uc003fit.2 + 8 1465 c.1378G>A c.(1378-1380)GGA>AGA p.G460R NAALADL2_uc003fiu.1_Missense_Mutation_p.G453R|NAALADL2_uc010hwy.1_Missense_Mutation_p.G234R|NAALADL2_uc010hwz.1_Missense_Mutation_p.G54R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 460 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CAGTTATAATGGACAAGAATG 0.403 NaN 0 0 0 0.01441 0 61 142 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.001984 0 7 13 MFN1 55669 broad.mit.edu 37 3 179085314 179085314 + Missense_Mutation SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:179085314T>G uc003fjs.2 + 8 967 c.841T>G c.(841-843)TTC>GTC p.F281V MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.F309V|MFN1_uc010hxc.2_Missense_Mutation_p.F134V NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 281 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GAATCGTATCTTCTTTGTTTC 0.403 NaN 0 0 0 0.008361 0 30 18 FGF12 2257 broad.mit.edu 37 3 191888334 191888334 + Nonsense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr3:191888334C>A uc003fsx.2 - 4 1352 c.526G>T c.(526-528)GGA>TGA p.G176* FGF12_uc003fsy.2_Nonsense_Mutation_p.G114* NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 176 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTATTGAGTCCCAGAAACCAA 0.413 NaN 1 0 1.45844e-13 0.013726 1.60196e-13 31 137 PIGG 54872 broad.mit.edu 37 4 509942 509942 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:509942T>A uc003gak.3 + 6 1218 c.1082T>A c.(1081-1083)CTG>CAG p.L361Q PIGG_uc003gaj.3_Missense_Mutation_p.L361Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.L228Q|PIGG_uc003gal.3_Missense_Mutation_p.L272Q|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.L239Q|PIGG_uc003gam.2_Missense_Mutation_p.L272Q|PIGG_uc003gan.2_Missense_Mutation_p.L272Q NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 361 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 CTTAGTAAACTGTTGCAAGAG 0.453 NaN 0 0 0 0.00874 0 42 55 DGKQ 1609 broad.mit.edu 37 4 955317 955317 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:955317C>T uc003gbw.2 - 21 2586 c.2512G>A c.(2512-2514)GAG>AAG p.E838K DGKQ_uc010ibn.2_Missense_Mutation_p.E825K NM_001347 NP_001338 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 838 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGTGGCTTCTCAAACCTGGTG 0.701 NaN 0 0 0 0.008291 0 9 12 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.004007 0 10 17 JAKMIP1 152789 broad.mit.edu 37 4 6114541 6114541 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:6114541C>T uc003giu.3 - 2 313 c.37G>A c.(37-39)GAG>AAG p.E13K JAKMIP1_uc010idb.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E13K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E13K|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E13K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E13K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E13K NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 13 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GTCTCCATCTCGGGCTTCTCG 0.612 NaN 0 0 0 0.00278 0 22 62 NCAPG 64151 broad.mit.edu 37 4 17816575 17816575 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:17816575G>T uc003gpp.2 + 4 820 c.644G>T c.(643-645)GGG>GTG p.G215V NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 215 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) AAAATTGTAGGGCGCACCAAG 0.403 NaN 1 0 4.00102e-26 0.00623 4.59918e-26 36 47 KDR 3791 broad.mit.edu 37 4 55970921 55970921 + Missense_Mutation SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:55970921T>C uc003has.2 - 13 2178 c.1876A>G c.(1876-1878)ATC>GTC p.I626V KDR_uc003hat.1_Missense_Mutation_p.I626V|KDR_uc011bzx.1_Missense_Mutation_p.I626V NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 626 Ig-like C2-type 6.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGCTCCATGATCAAAATGTCA 0.448 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.004672 0 3 25 PROL1 58503 broad.mit.edu 37 4 71275374 71275374 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:71275374G>C uc003hfi.2 + 3 503 c.329G>C c.(328-330)AGA>ACA p.R110T NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 110 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) TTCCCACTAAGACCTTACTAT 0.403 NaN 0 0 0 0.010818 0 26 120 ADAMTS3 9508 broad.mit.edu 37 4 73186565 73186565 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:73186565C>T uc003hgk.1 - 7 1005 c.968G>A c.(967-969)GGA>GAA p.G323E NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 323 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGATGGGTTTCCCCTTTCTAT 0.428 NaN 0 0 0 0.001168 0 5 16 RASGEF1B 153020 broad.mit.edu 37 4 82362031 82362031 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:82362031C>T uc003hmi.1 - 10 1205 c.1061G>A c.(1060-1062)GGG>GAG p.G354E RASGEF1B_uc003hmj.1_Missense_Mutation_p.G353E|RASGEF1B_uc010ijq.1_Missense_Mutation_p.G312E NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 354 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 TTGTGCTGCCCCACGAAGAGC 0.338 NaN 0 0 0 0.01441 0 43 56 GAR1 54433 broad.mit.edu 37 4 110740212 110740212 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:110740212A>T uc003hzt.2 + 4 732 c.425A>T c.(424-426)CAG>CTG p.Q142L GAR1_uc003hzu.2_Missense_Mutation_p.Q142L|GAR1_uc010imh.1_Missense_Mutation_p.Q142L|GAR1_uc010imi.2_Missense_Mutation_p.Q142L NM_018983 NP_061856 Q9NY12 GAR1_HUMAN nucleolar protein family A, member 1 142 rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding 0 AAAAAACTACAGAAGGTGAGT 0.343 NaN 0 0 0 0.013726 0 30 40 LRIT3 345193 broad.mit.edu 37 4 110789062 110789062 + Silent SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:110789062C>A uc003hzx.3 + 2 913 c.720C>A c.(718-720)ATC>ATA p.I240I LRIT3_uc003hzw.3_Silent_p.I102I NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 240 Ig-like. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) CCCCACAGATCACATGGACCA 0.453 NaN 1 0 0.00198382 0.001984 0.00203077 5 37 SLC9A3 6550 broad.mit.edu 37 5 476428 476428 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:476428G>A uc003jbe.2 - 13 2068 c.1956C>T c.(1954-1956)ATC>ATT p.I652I SLC9A3_uc011clx.1_Silent_p.I643I|uc011cly.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 652 Interaction with PDZD3 (By similarity).|Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCCTGTGGAAGATTTCCCGGT 0.607 NaN 0 0 0 0.01441 0 64 19 CTNND2 1501 broad.mit.edu 37 5 11022943 11022943 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:11022943C>T uc003jfa.1 - 17 3082 c.2937G>A c.(2935-2937)AAG>AAA p.K979K CTNND2_uc010itt.2_Silent_p.K888K|CTNND2_uc011cmy.1_Silent_p.K642K|CTNND2_uc011cmz.1_Silent_p.K546K|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.K571K NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 979 ARM 9. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCCGTAAGGCCTTGGCGTTCT 0.512 NaN 0 0 0 0.008291 0 9 28 HCN1 348980 broad.mit.edu 37 5 45645317 45645317 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:45645317C>A uc003jok.2 - 2 844 c.819G>T c.(817-819)AGG>AGT p.R273S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 273 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATCTAATTAACCTTGAAAGTC 0.328 NaN 1 0 0.00116845 0.001168 0.00119965 6 2 PLK2 10769 broad.mit.edu 37 5 57755666 57755666 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:57755666C>T uc003jrn.2 - 1 248 c.121G>A c.(121-123)GAA>AAA p.E41K PLK2_uc011cql.1_5'Flank NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 41 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GGCTGCGATTCCTCGGGGGGC 0.677 NaN 0 0 0 0.008871 0 19 7 C5orf44 80006 broad.mit.edu 37 5 64920912 64920912 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:64920912G>C uc003jtz.3 + 1 355 c.25G>C c.(25-27)GAG>CAG p.E9Q TRIM23_uc003jtw.2_5'Flank|TRIM23_uc003jtx.2_5'Flank|TRIM23_uc003jty.2_5'Flank|C5orf44_uc010iwu.1_5'UTR|C5orf44_uc003jua.3_Missense_Mutation_p.E9Q|C5orf44_uc003juc.3_Missense_Mutation_p.E9Q|C5orf44_uc010iwv.2_Missense_Mutation_p.E9Q NM_024941 NP_079217 A5PLN9 CE044_HUMAN hypothetical protein LOC80006 isoform 2 9 ovary(1) 1 CCCTAAACAGGAGCACCTGCT 0.512 NaN 0 0 0 0.00499 0 14 7 CAST 831 broad.mit.edu 37 5 96100940 96100940 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:96100940C>A uc003klz.1 + 24 1861 c.1699C>A c.(1699-1701)CTC>ATC p.L567I CAST_uc003klt.2_Missense_Mutation_p.L554I|CAST_uc003klu.2_Missense_Mutation_p.L650I|CAST_uc003klv.2_Missense_Mutation_p.L628I|CAST_uc003klw.2_Missense_Mutation_p.L631I|CAST_uc003klx.2_Missense_Mutation_p.L609I|CAST_uc003kly.2_Missense_Mutation_p.L615I|CAST_uc011cuo.1_Missense_Mutation_p.L613I|CAST_uc011cur.1_Missense_Mutation_p.L553I|CAST_uc011cus.1_Missense_Mutation_p.L554I|CAST_uc003kma.1_Missense_Mutation_p.L525I|CAST_uc011cut.1_Missense_Mutation_p.L495I|CAST_uc003kmb.2_Missense_Mutation_p.L513I|CAST_uc003kmc.2_Missense_Mutation_p.L567I|CAST_uc003kmd.2_Missense_Mutation_p.L545I|CAST_uc003kme.2_Missense_Mutation_p.L526I|CAST_uc003kmf.2_Missense_Mutation_p.L532I|CAST_uc003kmh.2_Missense_Mutation_p.L281I|CAST_uc010jbj.2_Missense_Mutation_p.L282I|CAST_uc010jbk.2_Missense_Mutation_p.L282I|CAST_uc010jbl.1_Missense_Mutation_p.L290I|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.L289I|CAST_uc003kmk.2_RNA|ERAP1_uc003kml.2_Intron NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 567 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGACAAAGACCTCGATGATGC 0.403 NaN 1 0 1.15088e-07 0.004007 1.22902e-07 17 8 PCDHA6 56142 broad.mit.edu 37 5 140209959 140209959 + Silent SNP G G A rs150255684 byFrequency TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:140209959G>A uc003lho.2 + 1 2310 c.2283G>A c.(2281-2283)GGG>GGA p.G761G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.G761G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 761 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCTCCGGGGAGGGCCCAC 0.607 NaN 0 0 0 0.008291 0 11 44 FAT2 2196 broad.mit.edu 37 5 150946090 150946090 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:150946090G>A uc003lue.3 - 1 2416 c.2403C>T c.(2401-2403)TCC>TCT p.S801S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S801S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 801 Extracellular (Potential).|Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTTCCAGGAGGACTTCTGGG 0.512 NaN 0 0 0 0.01441 0 46 10 DOCK2 1794 broad.mit.edu 37 5 169477279 169477279 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:169477279G>T uc003maf.2 + 41 4171 c.4091G>T c.(4090-4092)CGC>CTC p.R1364L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R856L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1364 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCATCTACCGCGGGAAGGAA 0.502 NaN 1 0 1.42033e-22 0.004289 1.606e-22 35 70 SLC22A23 63027 broad.mit.edu 37 6 3284172 3284172 + Silent SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:3284172C>A uc003mvm.3 - 9 1617 c.1617G>T c.(1615-1617)GCG>GCT p.A539A uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Silent_p.A258A|SLC22A23_uc003mvo.3_Silent_p.A258A|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Silent_p.A539A NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 539 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) CGATGGAAAACGCGATGGAAA 0.587 NaN 1 0 9.31168e-06 0.001855 9.73366e-06 14 22 RREB1 6239 broad.mit.edu 37 6 7230402 7230402 + Silent SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:7230402G>T uc003mxc.2 + 10 2460 c.2070G>T c.(2068-2070)CTG>CTT p.L690L RREB1_uc003mxb.2_Silent_p.L690L|RREB1_uc010jnx.2_Silent_p.L690L NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 690 C2H2-type 8. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TCCGCCACCTGCGCACGCACA 0.627 NaN 1 0 8.60227e-14 0.004007 9.47894e-14 17 39 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:29910693A>G uc003nol.2 + 2 233 c.233A>G c.(232-234)CAG>CGG p.Q78R HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGGATAGAGCAGGAGGGGCCG 0.657 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 0 0 0 0.00308 0 4 33 TRERF1 55809 broad.mit.edu 37 6 42231063 42231063 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:42231063C>G uc003osd.2 - 8 2442 c.1879G>C c.(1879-1881)GTG>CTG p.V627L TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.V627L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 627 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCACGAGCACAGGCATCTCG 0.682 NaN 0 0 0 0.003755 0 31 80 UBR2 23304 broad.mit.edu 37 6 42625826 42625826 + Silent SNP T T G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:42625826T>G uc011dur.1 + 27 2937 c.2937T>G c.(2935-2937)GCT>GCG p.A979A UBR2_uc011dus.1_Silent_p.A624A|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 979 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TACAAAATGCTCCCTACCTAG 0.373 NaN 0 0 0 0.01441 0 56 73 CUL7 9820 broad.mit.edu 37 6 43008026 43008026 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:43008026C>T uc003otq.2 - 22 4465 c.4162G>A c.(4162-4164)GAA>AAA p.E1388K CUL7_uc010jyg.2_Missense_Mutation_p.E667K|CUL7_uc011dvb.1_Missense_Mutation_p.E1472K|CUL7_uc010jyh.2_Missense_Mutation_p.E381K|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1388 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ACAGACACTTCTGGCATTGCC 0.498 NaN 0 0 0 0.008361 0 32 42 TDRD6 221400 broad.mit.edu 37 6 46656613 46656613 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:46656613G>A uc003oyj.2 + 1 748 c.748G>A c.(748-750)GTG>ATG p.V250M TDRD6_uc010jze.2_Missense_Mutation_p.V244M NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 250 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GCAGCTGGGCGTGACGGAGGC 0.632 NaN 0 0 0 0.007413 0 20 22 TDRD6 221400 broad.mit.edu 37 6 46661470 46661470 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:46661470C>G uc003oyj.2 + 1 5605 c.5605C>G c.(5605-5607)CTA>GTA p.L1869V TDRD6_uc010jze.2_Missense_Mutation_p.L1863V NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1869 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AAAAGGGGAGCTAAGCCCGGT 0.478 NaN 0 0 0 0.00308 0 8 43 AKD1 221264 broad.mit.edu 37 6 109854548 109854548 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:109854548C>A uc003ptn.2 - 28 3553 c.3476G>T c.(3475-3477)CGC>CTC p.R1159L AKD1_uc011eat.1_Missense_Mutation_p.R238L NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1159 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 AGGAAGGAGGCGATCAAAAAT 0.383 NaN 1 0 0.004672 0.004672 0.00475445 3 15 CLVS2 134829 broad.mit.edu 37 6 123319132 123319132 + Silent SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:123319132C>G uc003pzi.1 + 2 1079 c.210C>G c.(208-210)CGC>CGG p.R70R NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 70 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGGCCTTCCGCCTCCTGGCGC 0.547 NaN 0 0 0 0.013726 0 28 51 UTRN 7402 broad.mit.edu 37 6 144613024 144613024 + Silent SNP T T C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:144613024T>C uc003qkt.2 + 1 152 c.60T>C c.(58-60)GAT>GAC p.D20D UTRN_uc010khq.1_Silent_p.D20D NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 20 Actin-binding. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AATTCAGTGATATCATTAAGT 0.378 NaN 0 0 0 0.010504 0 19 11 ZBTB2 57621 broad.mit.edu 37 6 151687920 151687920 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:151687920C>T uc003qoh.2 - 3 416 c.281G>A c.(280-282)CGA>CAA p.R94Q NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) CTGTTCTAATCGAACCGGGTC 0.537 NaN 0 0 0 0.01441 0 59 18 WTAP 9589 broad.mit.edu 37 6 160169296 160169296 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:160169296C>T uc003qsl.2 + 6 569 c.347C>T c.(346-348)GCG>GTG p.A116V WTAP_uc010kjx.2_Missense_Mutation_p.A116V|WTAP_uc003qsk.2_Missense_Mutation_p.A116V|WTAP_uc003qsm.1_RNA|WTAP_uc003qsn.2_Missense_Mutation_p.A116V NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 116 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GTAGACCCAGCGATCAACTTG 0.443 NaN 0 0 0 0.008291 0 11 8 TTLL2 83887 broad.mit.edu 37 6 167755014 167755014 + Silent SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:167755014G>C uc003qvs.1 + 3 1714 c.1626G>C c.(1624-1626)CTG>CTC p.L542L TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 542 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGTGTGTCCTGTCAGACCGTG 0.532 NaN 0 0 0 0.004289 0 32 14 SMOC2 64094 broad.mit.edu 37 6 169051454 169051454 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:169051454C>T uc003qws.1 + 10 1021 c.1001C>T c.(1000-1002)TCG>TTG p.S334L SMOC2_uc003qwr.1_Missense_Mutation_p.S345L|SMOC2_uc011egu.1_Missense_Mutation_p.S11L NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 334 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) CCCTCCTCCTCGTCAGGCAGG 0.557 NaN 0 0 0 0.00308 0 8 2 PRKAR1B 5575 broad.mit.edu 37 7 624145 624145 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:624145C>G uc003siu.1 - 9 875 c.769G>C c.(769-771)GAG>CAG p.E257Q PRKAR1B_uc003siv.2_Missense_Mutation_p.E257Q|PRKAR1B_uc003siw.1_Missense_Mutation_p.E257Q|PRKAR1B_uc003six.1_RNA NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 257 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) AGCCACTGACCTAGGATGGAG 0.592 NaN 0 0 0 0.008291 0 10 17 IGF2BP3 10643 broad.mit.edu 37 7 23390927 23390927 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:23390927G>C uc003swg.2 - 6 946 c.680C>G c.(679-681)TCT>TGT p.S227C NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 227 KH 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 TACTCACTTAGACTGGGTCTG 0.488 NaN 0 0 0 0.006122 0 17 60 OSBPL3 26031 broad.mit.edu 37 7 24911680 24911680 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:24911680C>G uc003sxf.2 - 3 510 c.105G>C c.(103-105)TGG>TGC p.W35C OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxh.2_Missense_Mutation_p.W35C|OSBPL3_uc003sxi.2_Missense_Mutation_p.W35C NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 35 lipid transport lipid binding|protein binding skin(1) 1 CCACCACTTCCCAGCTGTCCT 0.403 NaN 0 0 0 0.003163 0 12 37 EGFR 1956 broad.mit.edu 37 7 55224469 55224469 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:55224469C>G uc003tqk.2 + 10 1397 c.1151C>G c.(1150-1152)ACT>AGT p.T384S EGFR_uc003tqh.2_Missense_Mutation_p.T384S|EGFR_uc003tqi.2_Missense_Mutation_p.T384S|EGFR_uc003tqj.2_Missense_Mutation_p.T384S|EGFR_uc010kzg.1_Missense_Mutation_p.T339S|EGFR_uc011kco.1_Missense_Mutation_p.T331S|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 384 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTCACACATACTCCTCCTCTG 0.373 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 0 0 0 0.007413 0 18 85 LANCL2 55915 broad.mit.edu 37 7 55468950 55468950 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:55468950G>C uc003tqp.2 + 5 1340 c.762G>C c.(760-762)TGG>TGC p.W254C NM_018697 NP_061167 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 254 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding ovary(1)|skin(1) 2 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) TGTACCAGTGGCACCGGAAGC 0.438 NaN 0 0 0 0.01441 0 45 55 GNAI1 2770 broad.mit.edu 37 7 79846687 79846687 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:79846687G>A uc003uhb.1 + 8 1280 c.943G>A c.(943-945)GAC>AAC p.D315N GNAI1_uc011kgt.1_Missense_Mutation_p.D263N NM_002069 NP_002060 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), 315 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TAAAAGAAAGGACACAAAGGA 0.348 NaN 0 0 0 0.013537 0 12 24 MUC17 140453 broad.mit.edu 37 7 100685857 100685857 + Silent SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:100685857C>G uc003uxp.1 + 3 11213 c.11160C>G c.(11158-11160)GTC>GTG p.V3720V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3720 Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTTCTGTTGTCACCAGCACAC 0.507 NaN 0 0 0 0.01441 0 80 106 PARP12 64761 broad.mit.edu 37 7 139724424 139724424 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:139724424G>T uc003vvl.1 - 12 2916 c.2042C>A c.(2041-2043)TCC>TAC p.S681Y PARP12_uc003vvk.1_Missense_Mutation_p.S467Y|PARP12_uc010lnf.1_RNA NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN poly ADP-ribose polymerase 12 681 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding ovary(3) 3 Melanoma(164;0.0142) CGAGGGCTTGGAGGAGGTGGT 0.562 NaN 1 0 7.93312e-07 0.00245 8.34304e-07 14 50 TRPV6 55503 broad.mit.edu 37 7 142575431 142575431 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:142575431C>T uc003wbx.1 - 3 538 c.322G>A c.(322-324)GAG>AAG p.E108K TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 108 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GTCATGGGCTCAAAGACCAGC 0.587 NaN 0 0 0 0.01441 0 58 76 OR6B1 135946 broad.mit.edu 37 7 143701527 143701527 + Silent SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr7:143701527T>A uc003wdt.1 + 1 438 c.438T>A c.(436-438)CTT>CTA p.L146L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) GCCTCGCTCTTGGTTCCTGGG 0.562 NaN 0 0 0 0.013537 0 12 29 MTUS1 57509 broad.mit.edu 37 8 17573306 17573306 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:17573306G>C uc003wxv.2 - 5 3028 c.2554C>G c.(2554-2556)CAT>GAT p.H852D MTUS1_uc003wxt.2_Missense_Mutation_p.H99D|MTUS1_uc011kyg.1_5'UTR|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.H798D NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 852 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) AAGTGAACATGAGCCCTGGAT 0.428 NaN 0 0 0 0.004289 0 35 142 FGL1 2267 broad.mit.edu 37 8 17739539 17739539 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:17739539G>A uc003wxx.2 - 4 537 c.213C>T c.(211-213)GTC>GTT p.V71V FGL1_uc003wxy.2_Silent_p.V71V|FGL1_uc003wxz.2_Silent_p.V71V|FGL1_uc003wya.2_Silent_p.V71V|FGL1_uc003wyb.2_Silent_p.V71V|FGL1_uc003wyc.2_Silent_p.V71V|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Silent_p.V121V|FGL1_uc003wyf.2_Silent_p.V41V NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 71 signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CAAGATCAATGACAGTATTCT 0.438 NaN 0 0 0 0.013114 0 45 52 FZD3 7976 broad.mit.edu 37 8 28378298 28378298 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:28378298G>A uc003xgx.2 + 4 811 c.333G>A c.(331-333)TCG>TCA p.S111S FZD3_uc010lvb.2_Silent_p.S111S NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 111 FZ.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) GTGAGTGTTCGAAGCTCATGG 0.443 NaN 0 0 0 0.003755 0 36 102 MYST3 7994 broad.mit.edu 37 8 41792359 41792359 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:41792359G>C uc010lxb.2 - 18 3923 c.3379C>G c.(3379-3381)CTT>GTT p.L1127V MYST3_uc010lxc.2_Missense_Mutation_p.L1127V|MYST3_uc003xon.3_Missense_Mutation_p.L1127V NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1127 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TTTCGCAAAAGAGATACTGGC 0.413 NaN 0 0 0 0.01441 0 51 245 IKBKB 3551 broad.mit.edu 37 8 42174385 42174385 + Missense_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:42174385C>G uc003xow.1 + 11 1265 c.1088C>G c.(1087-1089)CCC>CGC p.P363R IKBKB_uc003xov.2_Missense_Mutation_p.P363R|IKBKB_uc010lxh.1_Missense_Mutation_p.P258R|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.P140R|IKBKB_uc003xox.1_Missense_Mutation_p.P84R|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.P361R|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.P304R NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 363 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GCGTTGATCCCCGATAAGCCT 0.577 NaN 0 0 0 0.004482 0 8 38 KIAA0146 23514 broad.mit.edu 37 8 48614292 48614292 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:48614292C>T uc003xqd.2 + 13 1792 c.1783C>T c.(1783-1785)CAT>TAT p.H595Y KIAA0146_uc011ldb.1_Missense_Mutation_p.H595Y|KIAA0146_uc010lxs.2_Missense_Mutation_p.H70Y|KIAA0146_uc011ldc.1_Missense_Mutation_p.H525Y|KIAA0146_uc011ldd.1_Missense_Mutation_p.H535Y|KIAA0146_uc003xqe.2_Missense_Mutation_p.H70Y|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.H284Y|KIAA0146_uc010lxt.2_Missense_Mutation_p.H284Y|KIAA0146_uc011ldf.1_Missense_Mutation_p.H100Y|KIAA0146_uc011ldg.1_Missense_Mutation_p.H85Y|KIAA0146_uc010lxv.1_Missense_Mutation_p.H89Y NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 595 0 Lung NSC(58;0.175) GATAAAAACTCATCTGCCTCC 0.353 NaN 0 0 0 0.01441 0 74 108 MCM4 4173 broad.mit.edu 37 8 48875509 48875509 + Missense_Mutation SNP A A G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:48875509A>G uc003xqk.1 + 7 697 c.602A>G c.(601-603)AAT>AGT p.N201S PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.N201S|MCM4_uc011ldi.1_Missense_Mutation_p.N188S|MCM4_uc010lxw.1_RNA NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 201 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TTCTAGATTAATGTTATTGGT 0.284 NaN 0 0 0 0.010818 0 34 33 FER1L6 654463 broad.mit.edu 37 8 125015463 125015463 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:125015463G>A uc003yqw.2 + 13 1782 c.1576G>A c.(1576-1578)GAA>AAA p.E526K uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 526 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAAGTCAGCTGAATCAGCTGA 0.522 NaN 0 0 0 0.00333 0 22 41 FER1L6 654463 broad.mit.edu 37 8 125015577 125015577 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:125015577G>C uc003yqw.2 + 13 1896 c.1690G>C c.(1690-1692)GAA>CAA p.E564Q uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 564 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACTGGTGACAGAAGGGAACAG 0.507 NaN 0 0 0 0.009096 0 2 16 TSTA3 7264 broad.mit.edu 37 8 144696593 144696593 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:144696593G>T uc003yza.2 - 6 531 c.495C>A c.(493-495)TTC>TTA p.F165L TSTA3_uc003yzb.2_Missense_Mutation_p.F165L NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 165 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity pancreas(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) TGACAGCGGTGAAGGTGCAGC 0.662 NaN 1 0 0.00116845 0.001168 0.00119965 5 53 MUSK 4593 broad.mit.edu 37 9 113496648 113496648 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr9:113496648G>A uc004bey.2 + 6 844 c.746G>A c.(745-747)GGA>GAA p.G249E MUSK_uc004bex.2_Missense_Mutation_p.G259E NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 249 Ig-like 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 ATTGAAAACGGAAATGCTGTG 0.507 NaN 0 0 0 0.010504 0 20 4 PRPF4 9128 broad.mit.edu 37 9 116053237 116053237 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr9:116053237G>T uc004bgx.2 + 13 1366 c.1316G>T c.(1315-1317)CGG>CTG p.R439L PRPF4_uc004bgy.2_Missense_Mutation_p.R438L NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 439 WD 5. Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 CTCCGACAGCGGCGTTGCGTC 0.468 NaN 1 0 1.49673e-21 0.00623 1.68139e-21 40 15 MXRA5 25878 broad.mit.edu 37 X 3229321 3229321 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:3229321G>A uc004crg.3 - 7 7080 c.6923C>T c.(6922-6924)ACA>ATA p.T2308I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2308 Ig-like C2-type 7. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAAGTAGAGTGTCCCATTGTT 0.537 NaN 0 0 0 0.01441 0 60 82 MXRA5 25878 broad.mit.edu 37 X 3239768 3239768 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:3239768T>A uc004crg.3 - 5 4115 c.3958A>T c.(3958-3960)ACA>TCA p.T1320S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1320 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCATCTGATGTGGGTTTATAT 0.363 NaN 0 0 0 0.004656 0 26 131 TLR7 51284 broad.mit.edu 37 X 12904760 12904760 + Missense_Mutation SNP G G C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:12904760G>C uc004cvc.2 + 3 1272 c.1133G>C c.(1132-1134)AGA>ACA p.R378T NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 378 Extracellular (Potential).|LRR 13. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CTGCGGATCAGAGGATATGTC 0.338 NaN 0 0 0 0.001855 0 14 83 TLR7 51284 broad.mit.edu 37 X 12905270 12905270 + Missense_Mutation SNP A A T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:12905270A>T uc004cvc.2 + 3 1782 c.1643A>T c.(1642-1644)GAC>GTC p.D548V NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 548 Extracellular (Potential).|LRR 18. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) AGATATTTGGACTTCTCCAAC 0.388 NaN 0 0 0 0.01441 0 98 174 PIR 8544 broad.mit.edu 37 X 15509315 15509315 + Silent SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:15509315C>T uc004cwu.2 - 2 304 c.66G>A c.(64-66)GCG>GCA p.A22A PIR_uc004cwv.2_Silent_p.A22A|BMX_uc004cww.2_Intron NM_003662 NP_003653 O00625 PIR_HUMAN pirin 22 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity ovary(1) 1 Hepatocellular(33;0.183) TCCGGACCCTCGCTCCAACCC 0.522 NaN 0 0 0 0.01441 0 93 117 ZRSR2 8233 broad.mit.edu 37 X 15821884 15821884 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:15821884G>A uc004cxg.3 + 4 322 c.277G>A c.(277-279)GAA>AAA p.E93K NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 93 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) GAAGGAAAAGGAAGAGGCGGC 0.378 NaN 0 0 0 0.009096 0 4 13 CDKL5 6792 broad.mit.edu 37 X 18643279 18643279 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:18643279C>A uc004cym.2 + 17 2661 c.2408C>A c.(2407-2409)ACG>AAG p.T803K CDKL5_uc004cyn.2_Missense_Mutation_p.T803K NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 803 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GATCTTCTGACGTTGCAGAAA 0.483 NaN 1 0 6.25564e-26 0.01441 7.16706e-26 62 84 RPS6KA3 6197 broad.mit.edu 37 X 20205975 20205975 + Missense_Mutation SNP C C T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:20205975C>T uc004czu.2 - 9 745 c.745G>A c.(745-747)GCT>ACT p.A249T RPS6KA3_uc011mjk.1_Missense_Mutation_p.A220T|RPS6KA3_uc004czv.2_Missense_Mutation_p.A237T|RPS6KA3_uc011mjl.1_Missense_Mutation_p.A221T|RPS6KA3_uc011mjm.1_Missense_Mutation_p.A221T NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 249 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 CACCAGTCAGCACTCTGAGTA 0.393 NaN 0 0 0 0.00874 0 41 71 KDM6A 7403 broad.mit.edu 37 X 44969392 44969392 + Nonsense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 C A C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:44969392C>A uc004dge.3 + 28 4449 c.4074C>A c.(4072-4074)TGC>TGA p.C1358* KDM6A_uc011mkz.1_Nonsense_Mutation_p.C1410*|KDM6A_uc011mla.1_Nonsense_Mutation_p.C1313*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.C1365*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.C1062*|KDM6A_uc011mld.1_Nonsense_Mutation_p.C997* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1358 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGTACATTGCCAAGATTGTG 0.368 NaN D|N|F|S renal|oesophageal SCC|MM 1 0 7.93312e-07 0.00245 8.34304e-07 14 34 FOXP3 50943 broad.mit.edu 37 X 49107796 49107796 + Nonstop_Mutation SNP C C G TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:49107796C>G uc004dnf.3 - 12 1483 c.1295G>C c.(1294-1296)TGA>TCA p.*432S FOXP3_uc011mnb.1_Nonstop_Mutation_p.*455S|FOXP3_uc011mnc.1_Nonstop_Mutation_p.*405S|FOXP3_uc004dne.3_Nonstop_Mutation_p.*397S|FOXP3_uc010niq.1_3'UTR NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN forkhead box P3 isoform a 432 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding 0 Ovarian(276;0.236) ATCTTGAGGTCAGGGGCCAGG 0.617 NaN 0 0 0 0.008291 0 9 23 ZXDB 158586 broad.mit.edu 37 X 57619922 57619922 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:57619922G>A uc004dvd.2 + 1 1654 c.1441G>A c.(1441-1443)GAC>AAC p.D481N NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 481 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GCACGACGATGACCGGAGGTT 0.517 NaN 0 0 0 0.01441 0 53 76 LAS1L 81887 broad.mit.edu 37 X 64734785 64734785 + Missense_Mutation SNP T T A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:64734785T>A uc004dwa.1 - 13 2068 c.1996A>T c.(1996-1998)ATG>TTG p.M666L LAS1L_uc004dwc.1_Missense_Mutation_p.M649L|LAS1L_uc004dwd.1_Missense_Mutation_p.M607L|LAS1L_uc004dvy.1_Missense_Mutation_p.M179L|LAS1L_uc004dvz.1_Missense_Mutation_p.M179L NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 666 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TTCTCCAGCATGAGCTCTGCT 0.557 NaN 0 0 0 0.013537 0 13 22 OGT 8473 broad.mit.edu 37 X 70784453 70784453 + Silent SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:70784453C>A uc004eaa.1 + 19 2656 c.2439C>A c.(2437-2439)ATC>ATA p.I813I BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.I803I|OGT_uc004eac.2_Silent_p.I674I|OGT_uc004ead.2_Silent_p.I432I NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 813 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) TGTTCTAGATCAACAATAAGG 0.383 NaN 1 0 3.32936e-07 0.006122 3.53361e-07 17 22 STAG2 10735 broad.mit.edu 37 X 123182853 123182853 + Splice_Site SNP A A C TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 A C A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:123182853A>C uc004etz.3 + 9 1159 c.820_splice c.e9-2 p.L274_splice STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GTTTTTTTACAGCTTCAGGAA 0.308 NaN 0 0 0 0.00278 0 24 26 MAGEC2 51438 broad.mit.edu 37 X 141291023 141291024 + Nonsense_Mutation DNP CC CC TT TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:141291023_141291024CC>TT uc004fbu.1 - 3 1098_1099 c.750_751GG>AA c.(748-753)TGGGAA>TGAAAA p.250_251WE>*K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 250_251 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGCACTTCCCAGATGACCT 0.515 NaN HNSCC(46;0.14) 0 0 0 0.004672 0 59 129 SPANXN2 494119 broad.mit.edu 37 X 142803727 142803727 + Missense_Mutation SNP C C A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:142803727C>A uc004fbz.2 - 1 790 c.36G>T c.(34-36)AAG>AAT p.K12N NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 12 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGCTCTTCCTCTTCTCCCCAT 0.318 NaN 1 0 2.165e-29 0.01441 2.50532e-29 58 205 MTM1 4534 broad.mit.edu 37 X 149809841 149809841 + Missense_Mutation SNP G G T TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:149809841G>T uc004fef.3 + 8 704 c.628G>T c.(628-630)GAT>TAT p.D210Y MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.D173Y|MTM1_uc011mxz.1_Missense_Mutation_p.D95Y|MTM1_uc010nte.2_Missense_Mutation_p.D78Y NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 210 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCGTGCCTCAGATGATGACCT 0.438 NaN 1 0 3.86212e-05 0.008291 4.01289e-05 10 54 PNCK 139728 broad.mit.edu 37 X 152937346 152937346 + Missense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chrX:152937346G>A uc011myu.1 - 5 838 c.652C>T c.(652-654)CGG>TGG p.R218W PNCK_uc011myt.1_Missense_Mutation_p.R152W|PNCK_uc004fia.2_Missense_Mutation_p.R147W|PNCK_uc004fhz.3_Missense_Mutation_p.R33W|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.R162W|PNCK_uc011myw.1_Missense_Mutation_p.R162W NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 135 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGAGGTCCCGGTGCACGATC 0.662 NaN 0 0 0 0.001168 0 6 18 KLHDC7A 127707 broad.mit.edu 37 1 18807481 18807497 + Frame_Shift_Del DEL CCCCAGAGGAGCAGAGG CCCCAGAGGAGCAGAGG - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:18807481_18807497delCCCCAGAGGAGCAGAGG uc001bax.2 + 1 58_74 c.6_22delCCCCAGAGGAGCAGAGG c.(4-24)TTCCCCAGAGGAGCAGAGGCCfs p.F2fs KLHDC7A_uc009vpg.2_5'Flank NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 2_8 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCATGTTCCCCAGAGGAGCAGAGGCCCAGGACTG 0.581 NaN NaN NaN NaN NaN NaN 15 31 --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:160589601delT uc001fwl.3 - 5 1175 c.829delA c.(829-831)AGCfs p.S277fs SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 277 Cytoplasmic (Potential).|Ig-like V-type. 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) ATCGTAAGGCTTTTTTTTTCC 0.433 NaN NaN NaN NaN NaN NaN 8 131 --- --- ELF3 1999 broad.mit.edu 37 1 201983137 201983153 + Splice_Site DEL TGAGCCGGGCCATGAGG TGAGCCGGGCCATGAGG - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 TGAGCCGGGCCATGAGG - TGAGCCGGGCCATGAGG TGAGCCGGGCCATGAGG Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr1:201983137_201983153delTGAGCCGGGCCATGAGG uc001gxg.3 + 7 4193 c.1001_splice c.e7+1 p.R334_splice ELF3_uc001gxi.3_Splice_Site_p.R334_splice|ELF3_uc001gxh.3_Splice_Site_p.R334_splice NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 TACGAGAAGCTGAGCCGGGCCATGAGGTGAGCTGGCG 0.59 NaN NaN NaN NaN NaN NaN 14 3 --- --- ABCC8 6833 broad.mit.edu 37 11 17428979 17428979 + Frame_Shift_Del DEL C C - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr11:17428979delC uc001mnc.2 - 24 2968 c.2842delG c.(2842-2844)GCCfs p.A948fs NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 948 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGCTCTGTGGCTTTTCTCTCT 0.542 NaN NaN NaN NaN NaN NaN 20 78 --- --- LCAT 3931 broad.mit.edu 37 16 67974100 67974109 + Frame_Shift_Del DEL GCAGGCCCAC GCAGGCCCAC - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr16:67974100_67974109delGCAGGCCCAC uc002euy.1 - 6 1032_1041 c.1021_1030delGTGGGCCTGC c.(1021-1032)GTGGGCCTGCCCfs p.V341fs NM_000229 NP_000220 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase precursor 341_344 cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) CGGGGCGTGGGCAGGCCCACGCCGTAAAGA 0.61 NaN NaN NaN NaN NaN NaN 30 121 --- --- HERC6 55008 broad.mit.edu 37 4 89300153 89300161 + In_Frame_Del DEL AGGCGGCCA AGGCGGCCA - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr4:89300153_89300161delAGGCGGCCA uc011cdi.1 + 1 263_271 c.80_88delAGGCGGCCA c.(79-90)CAGGCGGCCAGC>CGC p.27_30QAAS>R HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_In_Frame_Del_p.27_30QAAS>R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 27_30 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GAGCTACTGCAGGCGGCCAGCGGGGAGCG 0.722 NaN NaN NaN NaN NaN NaN 7 10 --- --- TMED9 54732 broad.mit.edu 37 5 177019252 177019268 + Frame_Shift_Del DEL CGGCCCGGAACCGGGCT CGGCCCGGAACCGGGCT - rs57960711 byFrequency TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr5:177019252_177019268delCGGCCCGGAACCGGGCT uc003mhx.2 + 1 40_56 c.37_53delCGGCCCGGAACCGGGCT c.(37-54)CGGCCCGGAACCGGGCTGfs p.R13fs TMED9_uc010jko.2_RNA NM_017510 NP_059980 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain 13_18 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTCCGGCCCCGGCCCGGAACCGGGCTGGGTAGAGTG 0.696 NaN NaN NaN NaN NaN NaN 10 10 --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Frame_Shift_Del DEL T T - TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr6:52883129delT uc003pbh.2 - 8 1152 c.662delA c.(661-663)AAGfs p.K221fs ICK_uc003pbi.2_Frame_Shift_Del_p.K221fs|ICK_uc003pbj.2_Frame_Shift_Del_p.K221fs NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN intestinal cell kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding ovary(1)|large_intestine(1)|lung(1)|kidney(1)|central_nervous_system(1) 5 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 NaN NaN NaN NaN NaN NaN 7 175 --- --- FER1L6 654463 broad.mit.edu 37 8 125015471 125015472 + Frame_Shift_Ins INS - - A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62b9f71c-2dab-455a-a454-579e8843f712 bad04664-6ccb-4b10-addf-357be540b43e g.chr8:125015471_125015472insA uc003yqw.2 + 13 1790_1791 c.1584_1585insA c.(1582-1587)GCTGAAfs p.A528fs uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 528_529 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTGAATCAGCTGAAGAAGACCT 0.535 NaN NaN NaN NaN NaN NaN 20 46 --- ---