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 NOC2L 26155 broad.mit.edu 37 1 887854 887854 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:887854C>T uc001abz.3 - 10 1188 c.1129G>A c.(1129-1131)GCC>ACC p.A377T NOC2L_uc001aby.3_Missense_Mutation_p.A174T|NOC2L_uc009vjq.2_Missense_Mutation_p.A377T NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 377 nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TAGAGGAAGGCGTGCTGGTAG 0.627 KLHL17 339451 broad.mit.edu 37 1 899343 899343 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:899343G>A uc001aca.1 + 9 1506 c.1399G>A c.(1399-1401)GCT>ACT p.A467T KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 467 Interaction with F-actin (By similarity).|Kelch 3. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GACGTCCGTCGCTGCCATGAG 0.687 AGRN 375790 broad.mit.edu 37 1 980540 980540 + Splice_Site SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:980540G>T uc001ack.1 + 13 2305 c.2255_splice c.e13-1 p.G752_splice NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CTTTCCTGCAGGCCCCACCTT 0.667 WDR8 49856 broad.mit.edu 37 1 3551767 3551767 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:3551767C>T uc001ako.2 - 7 803 c.695G>A c.(694-696)AGC>AAC p.S232N WDR8_uc001akn.3_Missense_Mutation_p.S232N|WDR8_uc010nzi.1_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN WD repeat domain 8 232 WD 4. centrosome protein binding 0 all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ACTGCTGGGGCTCCAGGCCAC 0.602 RERE 473 broad.mit.edu 37 1 8418331 8418331 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:8418331C>T uc001ape.2 - 21 5074 c.4264G>A c.(4264-4266)GTG>ATG p.V1422M RERE_uc001apf.2_Missense_Mutation_p.V1422M|RERE_uc001apd.2_Missense_Mutation_p.V868M NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1422 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) tgCGGAGTCACGTTGAACATC 0.438 PIK3CD 5293 broad.mit.edu 37 1 9784908 9784908 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:9784908G>A uc001aqb.3 + 23 3119 c.2911G>A c.(2911-2913)GGG>AGG p.G971R PIK3CD_uc010oaf.1_Missense_Mutation_p.G970R|PIK3CD_uc001aqe.3_Missense_Mutation_p.G995R NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 971 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCGGCGCCACGGGCTTCTCTT 0.622 OREG0013083 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIF1B 23095 broad.mit.edu 37 1 10356694 10356694 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:10356694G>A uc001aqx.3 + 20 2034 c.1832G>A c.(1831-1833)AGG>AAG p.R611K KIF1B_uc001aqv.3_Missense_Mutation_p.R565K|KIF1B_uc001aqw.3_Missense_Mutation_p.R565K|KIF1B_uc001aqy.2_Missense_Mutation_p.R585K|KIF1B_uc001aqz.2_Missense_Mutation_p.R611K|KIF1B_uc001ara.2_Missense_Mutation_p.R571K|KIF1B_uc001arb.2_Missense_Mutation_p.R597K NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 611 FHA. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AATGGCAAGAGGGTGTCCCAG 0.463 ARHGEF19 128272 broad.mit.edu 37 1 16534699 16534699 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:16534699T>C uc001ayc.1 - 3 571 c.434A>G c.(433-435)CAG>CGG p.Q145R ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 145 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CTCTTCACGCTGGTACACCCG 0.682 ATP13A2 23400 broad.mit.edu 37 1 17313329 17313329 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:17313329G>A uc001baa.2 - 27 3396 c.3206C>T c.(3205-3207)GCG>GTG p.A1069V ATP13A2_uc001azz.1_Missense_Mutation_p.A216V|ATP13A2_uc001bab.2_Missense_Mutation_p.A1064V|ATP13A2_uc001bac.2_Missense_Mutation_p.A1025V NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 1069 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GCGGAAGGGCGCCCCCTTGGA 0.677 ECE1 1889 broad.mit.edu 37 1 21551931 21551931 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:21551931G>A uc001bek.2 - 17 1927 c.1852C>T c.(1852-1854)CGG>TGG p.R618W ECE1_uc001bem.2_Missense_Mutation_p.R602W|ECE1_uc001bej.2_Missense_Mutation_p.R606W|ECE1_uc001bei.2_Missense_Mutation_p.R615W|ECE1_uc010odl.1_Missense_Mutation_p.R618W NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 618 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCATACTCCCGTCCTGTGGGT 0.607 HSPG2 3339 broad.mit.edu 37 1 22155944 22155944 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:22155944G>T uc001bfj.2 - 87 11964 c.11924C>A c.(11923-11925)CCT>CAT p.P3975H HSPG2_uc001bfi.2_Translation_Start_Site|HSPG2_uc009vqd.2_Missense_Mutation_p.P3976H NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3975 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GTCCTCCACAGGCCCGCTCTT 0.657 HSPG2 3339 broad.mit.edu 37 1 22176578 22176578 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:22176578C>T uc001bfj.2 - 57 7442 c.7402G>A c.(7402-7404)GTC>ATC p.V2468I HSPG2_uc009vqd.2_Missense_Mutation_p.V2469I NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2468 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCACGTGACCTGGGCATGG 0.662 EPHA8 2046 broad.mit.edu 37 1 22903024 22903024 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:22903024C>T uc001bfx.1 + 3 599 c.474C>T c.(472-474)GAC>GAT p.D158D EPHA8_uc001bfw.2_Silent_p.D158D NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 158 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGGTGCCGACCTTGGTGTGC 0.622 TMEM57 55219 broad.mit.edu 37 1 25818035 25818035 + Silent SNP C C T rs149775144 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:25818035C>T uc001bkk.2 + 10 1954 c.1752C>T c.(1750-1752)TCC>TCT p.S584S TMEM57_uc009vru.2_Silent_p.S357S|TMEM57_uc009vrv.2_Silent_p.S226S NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 584 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGTTCTCCGCACTGGGCG 0.552 GJB4 127534 broad.mit.edu 37 1 35227149 35227149 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:35227149C>T uc001bxv.1 + 2 664 c.294C>T c.(292-294)CGC>CGT p.R98R GJB4_uc001bxw.3_Silent_p.R98R NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 98 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TGGCCTACCGCGAGGAACGCG 0.637 GRIK3 2899 broad.mit.edu 37 1 37270641 37270641 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:37270641C>T uc001caz.2 - 15 2647 c.2512G>A c.(2512-2514)GTG>ATG p.V838M GRIK3_uc001cba.1_Missense_Mutation_p.V838M NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 838 Helical; (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CCCACGGCCACCAGCACAGAG 0.577 HIVEP3 59269 broad.mit.edu 37 1 41976128 41976128 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:41976128G>A uc001cgz.3 - 9 8428 c.7215C>T c.(7213-7215)AAC>AAT p.N2405N HIVEP3_uc001cha.3_Silent_p.N2404N|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 2405 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GAGGCTAAGCGTTGGGGGGAA 0.602 ATP6V0B 533 broad.mit.edu 37 1 44442008 44442008 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:44442008G>A uc001cld.2 + 4 346 c.235G>A c.(235-237)GGA>AGA p.G79R ATP6V0B_uc001clc.2_Missense_Mutation_p.G79R|ATP6V0B_uc001cle.2_Missense_Mutation_p.G32R|ATP6V0B_uc001clf.2_Missense_Mutation_p.G32R|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 79 Lumenal (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CATCATTGGTGGAGGAGTGAA 0.537 POMGNT1 55624 broad.mit.edu 37 1 46660558 46660558 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:46660558G>T uc001cpe.2 - 7 774 c.610C>A c.(610-612)CTG>ATG p.L204M POMGNT1_uc010olx.1_Missense_Mutation_p.L182M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.L61M|POMGNT1_uc001cpg.2_Missense_Mutation_p.L204M|POMGNT1_uc001cpf.2_Intron|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 204 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) CTCCAGCCCAGGGCAGGGCCA 0.627 CYP4X1 260293 broad.mit.edu 37 1 47489571 47489571 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:47489571C>T uc001cqt.2 + 1 332 c.82C>T c.(82-84)CAG>TAG p.Q28* CYP4X1_uc001cqr.2_Intron|CYP4X1_uc001cqs.2_Intron NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 28 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 GGGGCTGCTGCAGGCCATTAA 0.652 FAM159A 348378 broad.mit.edu 37 1 53122577 53122577 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:53122577C>T uc001cuf.2 + 3 538 c.438C>T c.(436-438)AGC>AGT p.S146S FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 146 integral to membrane 0 AGCTGGAGAGCAATGAGGGGC 0.577 ECHDC2 55268 broad.mit.edu 37 1 53370323 53370323 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:53370323G>A uc001cup.3 - 7 943 c.697C>T c.(697-699)CCC>TCC p.P233S ECHDC2_uc001cun.2_Missense_Mutation_p.P156S|ECHDC2_uc001cuo.3_Missense_Mutation_p.P202S|ECHDC2_uc010onk.1_Missense_Mutation_p.P187S NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 233 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 CACACCTGGGGCAGGATCTCC 0.667 AK5 26289 broad.mit.edu 37 1 78001620 78001620 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:78001620C>A uc001dhn.2 + 13 1774 c.1517C>A c.(1516-1518)CCT>CAT p.P506H AK5_uc001dho.2_Missense_Mutation_p.P480H NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 506 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 AGCAGCCTGCCTGTGGACGAC 0.572 ZZZ3 26009 broad.mit.edu 37 1 78098938 78098938 + Silent SNP C C T rs143272664 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:78098938C>T uc001dhq.2 - 5 578 c.102G>A c.(100-102)GCG>GCA p.A34A ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Silent_p.A34A|ZZZ3_uc001dhp.2_Silent_p.A34A NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 CTTCAGGATGCGCAATGCTAC 0.418 BRDT 676 broad.mit.edu 37 1 92445140 92445140 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:92445140G>A uc001dok.3 + 8 1462 c.1113G>A c.(1111-1113)ACG>ACA p.T371T BRDT_uc001dol.3_Silent_p.T371T|BRDT_uc010osz.1_Silent_p.T375T|BRDT_uc009wdf.2_Silent_p.T298T|BRDT_uc010ota.1_Silent_p.T325T|BRDT_uc010otb.1_Silent_p.T325T|BRDT_uc001dom.3_Silent_p.T371T NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTTTCGAAACGCATTTTTCAA 0.323 MTF2 22823 broad.mit.edu 37 1 93602291 93602291 + Missense_Mutation SNP C C T rs1046801 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:93602291C>T uc009wdj.2 + 15 1781 c.1489C>T c.(1489-1491)CGG>TGG p.R497W MTF2_uc010oth.1_Missense_Mutation_p.R395W|MTF2_uc009wdk.2_Missense_Mutation_p.R440W|MTF2_uc001dpi.3_Missense_Mutation_p.R224W|MTF2_uc010oti.1_Missense_Mutation_p.R395W|MTF2_uc001dpj.3_Missense_Mutation_p.R395W|MTF2_uc001dpl.3_Missense_Mutation_p.R395W|MTF2_uc001dpm.3_Missense_Mutation_p.R166W NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 497 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) ACCACATTTGCGGAGAAGAAG 0.423 DNTTIP2 30836 broad.mit.edu 37 1 94342747 94342747 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:94342747T>C uc001dqf.2 - 2 782 c.744A>G c.(742-744)CAA>CAG p.Q248Q DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.Q43Q NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) GAGATCTTGCTTGTAAATGGG 0.348 CDC14A 8556 broad.mit.edu 37 1 100856294 100856294 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:100856294A>G uc001dtg.3 + 4 711 c.223A>G c.(223-225)AGT>GGT p.S75G CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Missense_Mutation_p.S17G|CDC14A_uc001dte.3_Missense_Mutation_p.S75G|CDC14A_uc001dtf.2_Missense_Mutation_p.S75G|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.S75G|CDC14A_uc009wec.1_Missense_Mutation_p.S75G NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 75 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CTAGTCATACAGTTTGTCAAG 0.368 COL11A1 1301 broad.mit.edu 37 1 103379199 103379199 + Silent SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:103379199A>C uc001dul.2 - 53 4344 c.4026T>G c.(4024-4026)GGT>GGG p.G1342G COL11A1_uc001duk.2_Silent_p.G538G|COL11A1_uc001dum.2_Silent_p.G1354G|COL11A1_uc001dun.2_Silent_p.G1303G|COL11A1_uc009weh.2_Silent_p.G1226G NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1342 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACCGGTTGACCAGGATCTC 0.338 NTNG1 22854 broad.mit.edu 37 1 107937799 107937799 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:107937799C>T uc001dvh.3 + 4 1629 c.911C>T c.(910-912)ACT>ATT p.T304I NTNG1_uc001dvf.3_Missense_Mutation_p.T304I|NTNG1_uc010out.1_Missense_Mutation_p.T304I|NTNG1_uc001dvc.3_Missense_Mutation_p.T304I|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.T304I NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 304 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTCCATGCCACTGTATGTGTG 0.468 EPS8L3 79574 broad.mit.edu 37 1 110302334 110302334 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:110302334T>G uc001dyr.1 - 4 366 c.221A>C c.(220-222)GAC>GCC p.D74A EPS8L3_uc001dys.1_Missense_Mutation_p.D74A|EPS8L3_uc001dyq.1_Missense_Mutation_p.D74A|EPS8L3_uc009wfm.1_Missense_Mutation_p.D40A|EPS8L3_uc009wfn.1_Missense_Mutation_p.D40A|EPS8L3_uc009wfo.1_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 74 cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CAGCCAGCCGTCCCTGACCTG 0.602 ALX3 257 broad.mit.edu 37 1 110603359 110603359 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:110603359G>A uc001dzb.2 - 4 1116 c.1028C>T c.(1027-1029)ACG>ATG p.T343M NM_006492 NP_006483 O95076 ALX3_HUMAN aristaless-like homeobox 3 343 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) AACCGATCACGTGGTCCAGTT 0.577 CEPT1 10390 broad.mit.edu 37 1 111726093 111726093 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:111726093A>G uc001eah.1 + 8 1223 c.1015A>G c.(1015-1017)ATG>GTG p.M339V CEPT1_uc001eai.1_Missense_Mutation_p.M339V|CEPT1_uc001eaj.1_Missense_Mutation_p.M339V|CEPT1_uc009wfz.1_Missense_Mutation_p.M73V NM_001007794 NP_001007795 Q9Y6K0 CEPT1_HUMAN choline/ethanolaminephosphotransferase 339 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding 0 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) GGTTGCACACATGACGAAAAG 0.353 ADAMTSL4 54507 broad.mit.edu 37 1 150531794 150531794 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:150531794G>A uc001eux.2 + 17 3031 c.2795G>A c.(2794-2796)CGT>CAT p.R932H ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R955H|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R893H|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.R95H NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 932 TSP type-1 5. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GGCACACAGCGTAGAGACATC 0.602 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TCHH 7062 broad.mit.edu 37 1 152081704 152081704 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:152081704C>T uc001ezp.2 - 2 3989 c.3989G>A c.(3988-3990)CGC>CAC p.R1330H TCHH_uc009wne.1_Missense_Mutation_p.R1330H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1330 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTTGACGGCGTCTCTTCTC 0.547 HRNR 388697 broad.mit.edu 37 1 152186045 152186045 + Missense_Mutation SNP C C G rs143834557 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:152186045C>G uc001ezt.1 - 3 8136 c.8060G>C c.(8059-8061)CGC>CCC p.R2687P NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2687 29. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACCCAAGCGAGACTCATA 0.582 SLC27A3 11000 broad.mit.edu 37 1 153751246 153751246 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:153751246A>G uc001fcz.2 + 7 1737 c.1672A>G c.(1672-1674)AAG>GAG p.K558E SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 558 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCCAGGGGAAGTTGCTAAA 0.607 ATP8B2 57198 broad.mit.edu 37 1 154313343 154313343 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:154313343C>T uc001fex.2 + 13 1147 c.1147C>T c.(1147-1149)CGT>TGT p.R383C NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 369 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGAGGTCATCCGTCTGGGCCA 0.602 C1orf85 112770 broad.mit.edu 37 1 156264188 156264188 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:156264188T>C uc001foh.2 - 3 560 c.547A>G c.(547-549)AGG>GGG p.R183G C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Missense_Mutation_p.R183G|C1orf85_uc009wrx.2_Intron|C1orf85_uc001foj.2_Missense_Mutation_p.R97G NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN kidney predominant protein NCU-G1 precursor 183 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Hepatocellular(266;0.158) GCAAAAGTCCTGGTAGGGTCG 0.502 ARHGEF11 9826 broad.mit.edu 37 1 156906671 156906671 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:156906671C>T uc001fqo.2 - 39 5487 c.4447G>A c.(4447-4449)GCT>ACT p.A1483T ARHGEF11_uc010phu.1_Missense_Mutation_p.A899T|ARHGEF11_uc001fqn.2_Missense_Mutation_p.A1523T|MIR765_hsa-mir-765|MI0005116_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1483 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGCTCCTTAGCGGGAGGTGAG 0.597 CD1D 912 broad.mit.edu 37 1 158152853 158152853 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:158152853G>A uc001frr.2 + 5 1292 c.793G>A c.(793-795)GCA>ACA p.A265T CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 265 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) GTATCTCCGAGCAACCCTGGA 0.607 OR10R2 343406 broad.mit.edu 37 1 158449945 158449945 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:158449945A>G uc010pik.1 + 1 278 c.278A>G c.(277-279)TAC>TGC p.Y93C uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 93 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) GAGACCTTCTACACCTTTGTC 0.438 PVRL4 81607 broad.mit.edu 37 1 161047443 161047443 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:161047443G>A uc001fxo.2 - 3 829 c.530C>T c.(529-531)CCA>CTA p.P177L PVRL4_uc010pjz.1_5'Flank NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 177 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCTGGGGGCTGGGCTGCCCTC 0.637 DDR2 4921 broad.mit.edu 37 1 162749971 162749971 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:162749971G>T uc001gcf.2 + 19 2968 c.2503G>T c.(2503-2505)GAT>TAT p.D835Y DDR2_uc001gcg.2_Missense_Mutation_p.D835Y|uc001gch.1_5'Flank NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 835 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CTGGAGAAGAGATACGAAGAA 0.483 MAEL 84944 broad.mit.edu 37 1 166990949 166990949 + Missense_Mutation SNP G G A rs141476246 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:166990949G>A uc001gdy.1 + 12 1233 c.1162G>A c.(1162-1164)GTT>ATT p.V388I MAEL_uc001gdz.1_Missense_Mutation_p.V357I|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 388 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 AAACAGCAGCGTTCGGGGAAG 0.378 BAT2L2 23215 broad.mit.edu 37 1 171557571 171557571 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:171557571A>G uc010pmg.1 + 33 8386 c.8120A>G c.(8119-8121)TAC>TGC p.Y2707C BAT2L2_uc010pmh.1_Missense_Mutation_p.Y1619C|BAT2L2_uc010pmi.1_Missense_Mutation_p.Y544C|BAT2L2_uc010pmj.1_Missense_Mutation_p.Y239C NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 2707 protein C-terminus binding 0 AGCATTGTCTACCAGAAGCAG 0.443 CENPL 91687 broad.mit.edu 37 1 173776423 173776423 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:173776423C>T uc001gje.3 - 3 616 c.402G>A c.(400-402)CCG>CCA p.P134P CENPL_uc009wwg.2_Silent_p.P8P|CENPL_uc001gjg.3_Silent_p.P134P|CENPL_uc001gjf.3_Silent_p.P134P NM_033319 NP_201576 Q8N0S6 CENPL_HUMAN centromere protein L isoform 2 134 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus 0 GAAATGCTTCCGGGTCCCTTT 0.363 TNN 63923 broad.mit.edu 37 1 175067522 175067522 + Missense_Mutation SNP C C T rs144603425 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:175067522C>T uc001gkl.1 + 9 2023 c.1910C>T c.(1909-1911)ACG>ATG p.T637M TNN_uc010pmx.1_Missense_Mutation_p.T548M NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 637 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AATATGGCCACGGTCTCCTGG 0.557 RASAL2 9462 broad.mit.edu 37 1 178421736 178421736 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:178421736G>A uc001glr.2 + 9 1639 c.1514G>A c.(1513-1515)CGG>CAG p.R505Q RASAL2_uc001glq.2_Missense_Mutation_p.R653Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R19Q NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 505 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CGCACATCTCGGACTCTAACT 0.418 SOAT1 6646 broad.mit.edu 37 1 179310198 179310198 + Missense_Mutation SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:179310198T>A uc001gml.2 + 7 596 c.533T>A c.(532-534)TTT>TAT p.F178Y SOAT1_uc010pni.1_Missense_Mutation_p.F113Y|SOAT1_uc001gmm.2_Missense_Mutation_p.F120Y|SOAT1_uc010pnj.1_Translation_Start_Site|SOAT1_uc010pnk.1_Missense_Mutation_p.F113Y NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 178 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) TCTTATGCTTTTGGCAAATTT 0.423 ZNF648 127665 broad.mit.edu 37 1 182026670 182026670 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:182026670G>A uc001goz.2 - 2 684 c.476C>T c.(475-477)GCA>GTA p.A159V NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATCCAAGACTGCGTCCTGGTT 0.537 CFHR2 3080 broad.mit.edu 37 1 196927034 196927034 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:196927034A>C uc001gtq.1 + 4 521 c.444A>C c.(442-444)AAA>AAC p.K148N CFHR2_uc001gtr.1_Missense_Mutation_p.K24N NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 148 Sushi 3. extracellular region skin(2)|ovary(1) 3 CTGCAGAAAAATGTGGGCCCC 0.378 LAD1 3898 broad.mit.edu 37 1 201358401 201358401 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:201358401C>T uc001gwm.2 - 2 304 c.69G>A c.(67-69)GAG>GAA p.E23E LAD1_uc009wzu.1_Silent_p.E45E NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 23 basement membrane structural molecule activity 0 CCTGTTCCTCCTCATCCTCCA 0.682 IPO9 55705 broad.mit.edu 37 1 201842072 201842072 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:201842072G>A uc001gwz.2 + 20 2743 c.2693G>A c.(2692-2694)CGC>CAC p.R898H NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 898 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 ATCCGCACCCGCTCTAAGTCA 0.532 ADIPOR1 51094 broad.mit.edu 37 1 202910745 202910745 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:202910745G>A uc001gyq.3 - 8 1351 c.1084C>T c.(1084-1086)CGT>TGT p.R362C ADIPOR1_uc010pqd.1_Missense_Mutation_p.R286C|ADIPOR1_uc001gyr.3_Missense_Mutation_p.R161C|ADIPOR1_uc001gys.3_Missense_Mutation_p.R362C NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 362 Extracellular (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) AGGCCGTAACGGAATTCCTGA 0.493 TMCC2 9911 broad.mit.edu 37 1 205238475 205238475 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:205238475A>C uc001hbz.1 + 4 1589 c.1145A>C c.(1144-1146)CAG>CCG p.Q382P TMCC2_uc010prf.1_Missense_Mutation_p.Q304P|TMCC2_uc001hca.2_Missense_Mutation_p.Q157P|TMCC2_uc001hcb.1_Missense_Mutation_p.Q142P|TMCC2_uc001hcc.1_Missense_Mutation_p.Q3P|TMCC2_uc001hcd.2_Missense_Mutation_p.Q149P NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 382 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GACATGCAGCAGGGGCTGAAG 0.682 IKBKE 9641 broad.mit.edu 37 1 206667321 206667321 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:206667321A>G uc001hdz.1 + 21 2482 c.2114A>G c.(2113-2115)GAA>GGA p.E705G IKBKE_uc009xbv.1_3'UTR|IKBKE_uc001hea.1_Missense_Mutation_p.E620G NM_014002 NP_054721 Q14164 IKKE_HUMAN IKK-related kinase epsilon 705 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding ovary(3)|lung(3)|central_nervous_system(1)|skin(1) 8 Breast(84;0.137) CGCATCATCGAACGGTAAGGA 0.597 LAMB3 3914 broad.mit.edu 37 1 209799111 209799111 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:209799111G>T uc001hhg.2 - 13 2248 c.1858C>A c.(1858-1860)CTG>ATG p.L620M LAMB3_uc009xco.2_Missense_Mutation_p.L620M|LAMB3_uc001hhh.2_Missense_Mutation_p.L620M|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 620 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CGGGAGGCCAGGCCACGGTCC 0.637 LAMB3 3914 broad.mit.edu 37 1 209800867 209800867 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:209800867C>T uc001hhg.2 - 11 1736 c.1346G>A c.(1345-1347)GGG>GAG p.G449E LAMB3_uc009xco.2_Missense_Mutation_p.G449E|LAMB3_uc001hhh.2_Missense_Mutation_p.G449E|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 449 Laminin EGF-like 4. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AAGGCAGCGCCCACTCTCCTC 0.627 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CENPF 1063 broad.mit.edu 37 1 214830442 214830442 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:214830442A>T uc001hkm.2 + 18 8826 c.8652A>T c.(8650-8652)CAA>CAT p.Q2884H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2980 Potential.|Sufficient for nuclear localization.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TAGAGACACAAGTGGCCCATC 0.428 CAPN2 824 broad.mit.edu 37 1 223954100 223954100 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:223954100C>T uc001hob.3 + 16 1946 c.1722C>T c.(1720-1722)ATC>ATT p.I574I CAPN2_uc010puy.1_Silent_p.I496I|CAPN2_uc001hoc.2_Silent_p.I155I NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 574 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) GCTTCAGCATCGAGACATGCA 0.343 WNT9A 7483 broad.mit.edu 37 1 228109556 228109556 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:228109556C>T uc001hri.2 - 4 849 c.761G>A c.(760-762)GGC>GAC p.G254D NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 254 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) GGTGGTGCTGCCCACCTTGAG 0.667 HEATR1 55127 broad.mit.edu 37 1 236749680 236749680 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:236749680T>C uc001hyd.1 - 15 1913 c.1788A>G c.(1786-1788)TCA>TCG p.S596S NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 596 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CCACCTGATTTGACAACTGAT 0.348 WDR64 128025 broad.mit.edu 37 1 241904846 241904846 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:241904846G>A uc001hze.1 + 11 1527 c.1320G>A c.(1318-1320)TTG>TTA p.L440L WDR64_uc001hzf.1_Silent_p.L160L B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 440 WD 5. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGTATCCTTTGACTAGGATGA 0.348 AKT3 10000 broad.mit.edu 37 1 243777027 243777027 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:243777027G>T uc001iab.1 - 7 723 c.642C>A c.(640-642)TCC>TCA p.S214S AKT3_uc001hzz.1_Silent_p.S214S NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 214 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTGTCTGGAAGGAATATTTCA 0.289 OR2G3 81469 broad.mit.edu 37 1 247769130 247769130 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:247769130C>T uc010pyz.1 + 1 243 c.243C>T c.(241-243)ACC>ACT p.T81T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCCTCAGACCTTAGTTAACT 0.458 OR2G3 81469 broad.mit.edu 37 1 247769135 247769135 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:247769135T>G uc010pyz.1 + 1 248 c.248T>G c.(247-249)GTT>GGT p.V83G NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAGACCTTAGTTAACTTGCAA 0.463 OR2T6 254879 broad.mit.edu 37 1 248550954 248550954 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:248550954G>A uc001iei.1 + 1 45 c.45G>A c.(43-45)ATG>ATA p.M15I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTACCCTCATGGGGCTCTTCA 0.428 ANKRD16 54522 broad.mit.edu 37 10 5920141 5920141 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:5920141T>C uc010qat.1 - 7 1581 c.1038A>G c.(1036-1038)CCA>CCG p.P346P ANKRD16_uc009xie.2_Intron|ANKRD16_uc009xif.2_Silent_p.P346P|ANKRD16_uc001iiq.2_3'UTR NM_019046 NP_061919 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 isoform a 346 0 CTGCTCTCCTTGGGAGCTGCT 0.532 OPTN 10133 broad.mit.edu 37 10 13169777 13169777 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:13169777A>G uc001ilu.1 + 13 1713 c.1275A>G c.(1273-1275)GAA>GAG p.E425E OPTN_uc001ilv.1_Silent_p.E425E|OPTN_uc001ilw.1_Silent_p.E425E|OPTN_uc001ilx.1_Silent_p.E425E|OPTN_uc001ily.1_Silent_p.E419E|OPTN_uc010qbr.1_Silent_p.E368E|OPTN_uc001ilz.1_Silent_p.E419E NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 425 Potential.|Interaction with MYO6.|Interaction with HD. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 TGCTGAAGGAACTGAGTGAAA 0.403 VIM 7431 broad.mit.edu 37 10 17271880 17271880 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:17271880G>A uc001iou.2 + 2 872 c.459G>A c.(457-459)GAG>GAA p.E153E uc001iot.1_RNA|VIM_uc001iov.1_Silent_p.E153E|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.E153E|VIM_uc001ioy.1_Silent_p.E153E|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.E153E|VIM_uc001ipc.1_Silent_p.E153E NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 153 Rod.|Linker 1. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ACGAGGAGGAGATGCGGGAGC 0.657 MLLT10 8028 broad.mit.edu 37 10 22022455 22022455 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:22022455C>T uc001iqs.2 + 20 2826 c.2478C>T c.(2476-2478)AAC>AAT p.N826N MLLT10_uc001iqt.2_Silent_p.N810N|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.N810N|MLLT10_uc001ira.2_Silent_p.N267N|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 826 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 ATTCCTTGAACAGCAGTAAGA 0.294 T MLL|PICALM|CDK6 AL PTCHD3 374308 broad.mit.edu 37 10 27702585 27702585 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:27702585C>T uc001itu.2 - 1 713 c.595G>A c.(595-597)GCC>ACC p.A199T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 199 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTCCTGGAGGCGGAGAAGCGG 0.602 SVIL 6840 broad.mit.edu 37 10 29777649 29777649 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:29777649G>A uc001iut.1 - 23 4982 c.4229C>T c.(4228-4230)GCG>GTG p.A1410V SVIL_uc010qdw.1_Missense_Mutation_p.A324V|SVIL_uc001iuu.1_Missense_Mutation_p.A984V|SVIL_uc009xlc.2_Missense_Mutation_p.A202V NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1410 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GGCTAAACCCGCCAGGGTGAC 0.502 SVIL 6840 broad.mit.edu 37 10 29821472 29821472 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:29821472G>A uc001iut.1 - 8 2577 c.1824C>T c.(1822-1824)TGC>TGT p.C608C SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Silent_p.C608C NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 608 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CAGGTCTCCTGCAGGCGTTGG 0.567 SVIL 6840 broad.mit.edu 37 10 29840037 29840037 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:29840037C>T uc001iut.1 - 6 1069 c.316G>A c.(316-318)GCA>ACA p.A106T SVIL_uc001iuu.1_Missense_Mutation_p.A106T|SVIL_uc009xld.1_Missense_Mutation_p.A106T NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 106 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TTGTACCTTGCAATTCTTTCG 0.527 MTPAP 55149 broad.mit.edu 37 10 30630507 30630507 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:30630507C>T uc001iva.3 - 2 283 c.220G>A c.(220-222)GCA>ACA p.A74T MTPAP_uc001ivb.3_Missense_Mutation_p.A204T|MTPAP_uc001ivc.2_Missense_Mutation_p.A74T NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 74 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 GTCCGCTGTGCCTGTTCTCGT 0.368 ZEB1 6935 broad.mit.edu 37 10 31791274 31791274 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:31791274A>G uc001ivs.3 + 4 383 c.320_splice c.e4-2 p.V107_splice ZEB1_uc001ivr.3_Splice_Site|ZEB1_uc010qee.1_Splice_Site|ZEB1_uc010qef.1_Splice_Site|ZEB1_uc009xlh.1_Splice_Site|ZEB1_uc009xli.1_Splice_Site|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_Splice_Site|ZEB1_uc001ivt.3_Splice_Site|ZEB1_uc001ivu.3_Splice_Site_p.V108_splice|ZEB1_uc001ivv.3_Splice_Site_p.I87_splice|ZEB1_uc010qeh.1_Splice_Site_p.V40_splice|ZEB1_uc009xll.2_Splice_Site|ZEB1_uc009xlm.1_Splice_Site|ZEB1_uc009xln.1_Splice_Site|ZEB1_uc009xlo.1_Splice_Site_p.V90_splice|ZEB1_uc009xlp.2_Splice_Site_p.V91_splice NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CATTTTTTTTAGTAAAAGATG 0.308 ITGB1 3688 broad.mit.edu 37 10 33214797 33214797 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:33214797A>G uc001iws.3 - 6 922 c.786_splice c.e6+1 p.G262_splice ITGB1_uc001iwp.3_Splice_Site_p.G262_splice|ITGB1_uc001iwq.3_Splice_Site_p.G262_splice|ITGB1_uc001iwr.3_Splice_Site_p.G262_splice|ITGB1_uc001iwt.3_Splice_Site_p.G262_splice|ITGB1_uc001iwu.1_Splice_Site_p.G262_splice NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) GAATGCGCTTACTCCACAAAC 0.343 ANK3 288 broad.mit.edu 37 10 61868606 61868606 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:61868606G>A uc001jky.2 - 27 3347 c.3155C>T c.(3154-3156)GCA>GTA p.A1052V ANK3_uc001jkw.2_Missense_Mutation_p.A186V|ANK3_uc009xpa.2_Missense_Mutation_p.A186V|ANK3_uc001jkx.2_Missense_Mutation_p.A230V|ANK3_uc010qih.1_Missense_Mutation_p.A1053V|ANK3_uc001jkz.3_Missense_Mutation_p.A1046V|ANK3_uc001jla.1_Missense_Mutation_p.A118V|ANK3_uc001jlb.1_Missense_Mutation_p.A570V NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1052 ZU5. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTGTGCCCCTGCAGGACCCAT 0.458 JMJD1C 221037 broad.mit.edu 37 10 64954095 64954095 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:64954095C>T uc001jmn.2 - 14 5985 c.5685G>A c.(5683-5685)CAG>CAA p.Q1895Q JMJD1C_uc001jml.2_Silent_p.Q1676Q|JMJD1C_uc001jmm.2_Silent_p.Q1607Q|JMJD1C_uc010qiq.1_Silent_p.Q1713Q|JMJD1C_uc009xpi.2_Silent_p.Q1713Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.Q793Q NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1895 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) GATCATGAGGCTGTCCCTTCA 0.333 NODAL 4838 broad.mit.edu 37 10 72195099 72195099 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:72195099G>A uc001jrc.2 - 2 876 c.834C>T c.(832-834)GGC>GGT p.G278G NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 278 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 TAGGACACTCGCCCTCACAGC 0.572 PRF1 5551 broad.mit.edu 37 10 72358611 72358611 + Missense_Mutation SNP G G A rs150628656 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:72358611G>A uc009xqg.2 - 3 1027 c.866C>T c.(865-867)ACG>ATG p.T289M PRF1_uc001jrf.3_Missense_Mutation_p.T289M NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 289 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GAAGGAGGCCGTCATCTTGTG 0.607 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis UNC5B 219699 broad.mit.edu 37 10 73046593 73046593 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:73046593C>T uc001jro.2 + 5 1145 c.700C>T c.(700-702)CGC>TGC p.R234C UNC5B_uc001jrp.2_Missense_Mutation_p.R234C NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 234 Ig-like C2-type.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CGTGGCCAAACGCCGGAGCAC 0.637 SYNPO2L 79933 broad.mit.edu 37 10 75406786 75406786 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:75406786G>T uc001jut.3 - 4 2776 c.2624C>A c.(2623-2625)GCC>GAC p.A875D SYNPO2L_uc001jus.3_Missense_Mutation_p.A651D NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN synaptopodin 2-like isoform a 875 Pro-rich. cytoplasm|cytoskeleton actin binding ovary(1) 1 Prostate(51;0.0112) GGACCCTGAGGCGATAGGGCC 0.577 DLG5 9231 broad.mit.edu 37 10 79554615 79554615 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:79554615C>A uc001jzk.2 - 30 5608 c.5538G>T c.(5536-5538)AAG>AAT p.K1846N DLG5_uc001jzi.2_Missense_Mutation_p.K601N|DLG5_uc001jzj.2_Missense_Mutation_p.K1261N NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1846 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACTTGATGTGCTTGGCGCTCT 0.607 LRIT2 340745 broad.mit.edu 37 10 85981859 85981859 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:85981859G>A uc001kcy.2 - 3 1478 c.1470C>T c.(1468-1470)TGC>TGT p.C490C LRIT2_uc010qmc.1_Silent_p.C500C NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 490 integral to membrane ovary(2) 2 TGCTGCAGCTGCAGGGGCCCT 0.642 GRID1 2894 broad.mit.edu 37 10 87482810 87482810 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:87482810T>C uc001kdl.1 - 12 2048 c.1947A>G c.(1945-1947)ACA>ACG p.T649T GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.T220T NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 649 Helical; (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CAAGGTTGGCTGTGTAGGAGG 0.562 Multiple Myeloma(13;0.14) BTAF1 9044 broad.mit.edu 37 10 93784638 93784638 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:93784638T>C uc001khr.2 + 35 5087 c.4989T>C c.(4987-4989)GAT>GAC p.D1663D NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1663 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TAGAGCATGATCTCCTCAAAC 0.478 MYOF 26509 broad.mit.edu 37 10 95095752 95095752 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:95095752A>G uc001kin.2 - 41 4612 c.4489T>C c.(4489-4491)TTC>CTC p.F1497L MYOF_uc001kio.2_Missense_Mutation_p.F1484L|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1497 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GTATCTGAGAAGTCTGTCAGG 0.403 MORN4 118812 broad.mit.edu 37 10 99377076 99377076 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:99377076C>T uc001kob.3 - 3 342 c.71G>A c.(70-72)CGC>CAC p.R24H PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Missense_Mutation_p.R82H|MORN4_uc001kod.3_Silent_p.P114P|MORN4_uc001koe.2_Missense_Mutation_p.R24H|uc001kof.1_5'Flank NM_178832 NP_849154 Q8NDC4 MORN4_HUMAN MORN repeat containing 4 24 MORN 1. 0 ACCATGCCTGCGGCCTGAACA 0.502 GSTO2 119391 broad.mit.edu 37 10 106059034 106059034 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:106059034C>T uc001kyb.2 + 7 1352 c.724C>T c.(724-726)CTG>TTG p.L242L GSTO2_uc010qqx.1_Silent_p.L208L|GSTO2_uc001kyc.2_Silent_p.L214L|GSTO2_uc010qqy.1_3'UTR|uc001kyd.1_5'Flank NM_183239 NP_899062 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 242 water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) TGACTTTGGGCTGTGCTGAGT 0.502 ATRNL1 26033 broad.mit.edu 37 10 117075095 117075095 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:117075095T>C uc001lcg.2 + 18 3272 c.2886T>C c.(2884-2886)AAT>AAC p.N962N ATRNL1_uc010qsm.1_Silent_p.N137N|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 962 PSI 5.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GCTGGTGCAATGATCCTAGTA 0.448 FGFR2 2263 broad.mit.edu 37 10 123244911 123244911 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:123244911T>C uc010qtk.1 - 17 2840 c.2193A>G c.(2191-2193)GAA>GAG p.E731E FGFR2_uc010qtg.1_Silent_p.E619E|FGFR2_uc010qth.1_Silent_p.E616E|FGFR2_uc010qti.1_Silent_p.E642E|FGFR2_uc010qtj.1_Silent_p.E732E|FGFR2_uc010qtl.1_Silent_p.E615E|FGFR2_uc010qtm.1_Silent_p.E614E|FGFR2_uc001lfl.3_Silent_p.E732E|FGFR2_uc001lfm.2_Silent_p.E643E|FGFR2_uc001lfg.3_Silent_p.E339E|FGFR2_uc001lfk.1_5'Flank NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 731 Cytoplasmic (Potential).|Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GCCCTTACAGTTCGTTGGTGC 0.532 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome TACC2 10579 broad.mit.edu 37 10 123847368 123847368 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:123847368A>G uc001lfv.2 + 4 5713 c.5353A>G c.(5353-5355)ATT>GTT p.I1785V TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.I1785V|TACC2_uc010qtv.1_Missense_Mutation_p.I1785V NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1785 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGAGCGCCCCATTCCAGCTGG 0.632 DMBT1 1755 broad.mit.edu 37 10 124337331 124337331 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:124337331C>A uc001lgk.1 + 8 718 c.612C>A c.(610-612)GCC>GCA p.A204A DMBT1_uc001lgl.1_Silent_p.A204A|DMBT1_uc001lgm.1_Silent_p.A204A|DMBT1_uc009xzz.1_Silent_p.A204A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.A56A NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 204 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) TCACAGCTGCCCAGCCTCAGT 0.512 CPXM2 119587 broad.mit.edu 37 10 125601941 125601941 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:125601941G>A uc001lhk.1 - 4 902 c.577C>T c.(577-579)CAG>TAG p.Q193* CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 193 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCAATCCACTGCTGGAGGTCA 0.493 DOCK1 1793 broad.mit.edu 37 10 128926004 128926004 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:128926004C>A uc001ljt.2 + 27 2824 c.2760C>A c.(2758-2760)TCC>TCA p.S920S DOCK1_uc010qun.1_Silent_p.S941S NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 920 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCGTCATTTCCATGGGACGAG 0.483 FAM196A 642938 broad.mit.edu 37 10 128974096 128974096 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:128974096C>A uc001lju.1 - 1 605 c.564G>T c.(562-564)TTG>TTT p.L188F DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.L188F|FAM196A_uc001ljv.1_Missense_Mutation_p.L188F|FAM196A_uc009yap.1_Missense_Mutation_p.L188F NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 188 ovary(2) 2 AGTTGACCCCCAAAGGCTGGT 0.602 PWWP2B 170394 broad.mit.edu 37 10 134218991 134218991 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:134218991G>A uc001lll.3 + 2 1016 c.987G>A c.(985-987)CCG>CCA p.P329P PWWP2B_uc009ybe.2_Silent_p.P329P NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 329 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CGGACCTGCCGCCCCCTAAGA 0.716 KNDC1 85442 broad.mit.edu 37 10 135020777 135020777 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:135020777A>C uc001llz.1 + 20 3717 c.3716A>C c.(3715-3717)AAG>ACG p.K1239T NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1239 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AACGTCAACAAGCACCCGGGC 0.652 TUBGCP2 10844 broad.mit.edu 37 10 135102440 135102440 + Missense_Mutation SNP C C T rs148597749 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:135102440C>T uc001lmg.1 - 10 1802 c.1445G>A c.(1444-1446)CGG>CAG p.R482Q TUBGCP2_uc001lmf.1_Missense_Mutation_p.R75Q|TUBGCP2_uc010qvc.1_Missense_Mutation_p.R510Q|TUBGCP2_uc009ybk.1_Missense_Mutation_p.R482Q|TUBGCP2_uc010qvd.1_Missense_Mutation_p.R352Q|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 482 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CACATACGCCCGCTCTTTTAA 0.507 MRGPRE 116534 broad.mit.edu 37 11 3249927 3249927 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:3249927C>T uc001lxq.3 - 2 410 c.100G>A c.(100-102)GGC>AGC p.G34S NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 34 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACCGAGGCCGAGCCCCTCG 0.652 OR52B4 143496 broad.mit.edu 37 11 4389524 4389524 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:4389524A>G uc010qye.1 - 1 2 c.2T>C c.(1-3)ATG>ACG p.M1T NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TACAGTAGGCATAGCTGGGGA 0.488 HBB 3043 broad.mit.edu 37 11 5248013 5248013 + Missense_Mutation SNP G G C rs33948615 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:5248013G>C uc001mae.1 - 2 159 c.109C>G c.(109-111)CCT>GCT p.P37A NM_000518 NP_000509 P68871 HBB_HUMAN beta globin 37 P -> T (in Linkoping/Finlandia; O(2) affinity up).|P -> R (in Sunnybrook).|P -> S (in North Chicago; O(2) affinity up). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) TGGGTCCAAGGGTAGACCACC 0.522 Sickle_Cell_Trait ILK 3611 broad.mit.edu 37 11 6630183 6630183 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:6630183A>G uc001mee.2 + 6 652 c.517A>G c.(517-519)ACC>GCC p.T173A ILK_uc001mef.2_Missense_Mutation_p.T173A|ILK_uc010rap.1_Missense_Mutation_p.T39A|ILK_uc010raq.1_Silent_p.P140P|ILK_uc001meg.2_Missense_Mutation_p.T19A|ILK_uc001meh.2_Missense_Mutation_p.T173A|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 173 ANK 5. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GAAGGGGACCACCCGCACTCG 0.537 OR10A4 283297 broad.mit.edu 37 11 6898607 6898607 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:6898607C>T uc010rat.1 + 1 729 c.729C>T c.(727-729)TCC>TCT p.S243S NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCACCTGTTCCGCCCACCTCT 0.527 AMPD3 272 broad.mit.edu 37 11 10483178 10483178 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:10483178C>A uc001mio.1 + 2 447 c.112C>A c.(112-114)CTG>ATG p.L38M AMPD3_uc010rbz.1_Translation_Start_Site|AMPD3_uc001min.1_Missense_Mutation_p.L47M|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.L38M|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.L45M|AMPD3_uc009yfy.2_Missense_Mutation_p.L38M NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 38 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CAAAGATGCCCTGTCCCTGTT 0.562 LYVE1 10894 broad.mit.edu 37 11 10582327 10582327 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:10582327T>C uc001miv.2 - 4 704 c.418A>G c.(418-420)ATT>GTT p.I140V uc001miu.2_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.I36V NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 140 Extracellular (Potential). anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|skin(1) 2 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) ATTTCTGGAATGCACGAGTTA 0.303 ABCC8 6833 broad.mit.edu 37 11 17483306 17483306 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:17483306G>A uc001mnc.2 - 5 772 c.646C>T c.(646-648)CGC>TGC p.R216C ABCC8_uc010rcy.1_Missense_Mutation_p.R216C NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 216 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) TGCAGGAAGCGTACCCCCAGG 0.577 ELF5 2001 broad.mit.edu 37 11 34502322 34502322 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:34502322A>G uc001mvo.1 - 6 928 c.698T>C c.(697-699)CTG>CCG p.L233P ELF5_uc001mvp.1_Missense_Mutation_p.L223P|ELF5_uc009ykd.1_Missense_Mutation_p.L128P NM_198381 NP_938195 Q9UKW6 ELF5_HUMAN E74-like factor 5 ESE-2a 233 ETS. cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) AACTTACCTCAGGGCTCTGCT 0.383 TSPAN18 90139 broad.mit.edu 37 11 44931350 44931350 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:44931350C>T uc001mye.3 + 3 319 c.158C>T c.(157-159)ACG>ATG p.T53M TP53I11_uc001myf.1_Intron|TSPAN18_uc001myg.2_Missense_Mutation_p.T53M NM_130783 NP_570139 Q96SJ8 TSN18_HUMAN tetraspanin 18 isoform 2 53 Helical; (Potential). integral to membrane 0 CTGCTCCTCACGGGCGCCTAC 0.662 OR4C46 119749 broad.mit.edu 37 11 51515361 51515361 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:51515361T>C uc010ric.1 + 1 80 c.80T>C c.(79-81)GTT>GCT p.V27A NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCATATTTGTTGTGTTTTTT 0.413 OR4P4 81300 broad.mit.edu 37 11 55405899 55405899 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:55405899A>C uc010rij.1 + 1 66 c.66A>C c.(64-66)GAA>GAC p.E22D NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AGAACATTGAAGTCCTCTGCT 0.358 OR5W2 390148 broad.mit.edu 37 11 55681941 55681941 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:55681941A>G uc010rir.1 - 1 118 c.118T>C c.(118-120)TCA>CCA p.S40P NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGATTTGCTGAGAAATTAATG 0.353 OR5W2 390148 broad.mit.edu 37 11 55681953 55681953 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:55681953T>C uc010rir.1 - 1 106 c.106A>G c.(106-108)ATC>GTC p.I36V NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAATTAATGATATAAACAGCC 0.353 CTNND1 1500 broad.mit.edu 37 11 57575717 57575717 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:57575717G>A uc001nmc.3 + 13 2615 c.2044G>A c.(2044-2046)GAA>AAA p.E682K CTNND1_uc001nlh.1_Missense_Mutation_p.E682K|CTNND1_uc001nlu.3_Missense_Mutation_p.E575K|CTNND1_uc001nlt.3_Missense_Mutation_p.E575K|CTNND1_uc001nls.3_Missense_Mutation_p.E575K|CTNND1_uc001nlw.3_Missense_Mutation_p.E575K|CTNND1_uc001nmf.3_Missense_Mutation_p.E682K|CTNND1_uc001nmd.3_Missense_Mutation_p.E628K|CTNND1_uc001nlk.3_Missense_Mutation_p.E628K|CTNND1_uc001nme.3_Missense_Mutation_p.E676K|CTNND1_uc001nll.3_Missense_Mutation_p.E622K|CTNND1_uc001nmg.3_Missense_Mutation_p.E622K|CTNND1_uc001nlj.3_Missense_Mutation_p.E622K|CTNND1_uc001nlr.3_Missense_Mutation_p.E622K|CTNND1_uc001nlp.3_Missense_Mutation_p.E622K|CTNND1_uc001nlx.3_Missense_Mutation_p.E359K|CTNND1_uc001nlz.3_Missense_Mutation_p.E359K|CTNND1_uc009ymn.2_Missense_Mutation_p.E353K|CTNND1_uc001nlm.3_Missense_Mutation_p.E676K|CTNND1_uc001nly.3_Missense_Mutation_p.E353K|CTNND1_uc001nmb.3_Missense_Mutation_p.E353K|CTNND1_uc001nma.3_Missense_Mutation_p.E353K|CTNND1_uc001nmi.3_Missense_Mutation_p.E581K|CTNND1_uc001nmh.3_Missense_Mutation_p.E676K|CTNND1_uc001nlq.3_Missense_Mutation_p.E581K|CTNND1_uc001nln.3_Missense_Mutation_p.E676K|CTNND1_uc001nli.3_Missense_Mutation_p.E676K|CTNND1_uc001nlo.3_Missense_Mutation_p.E575K|CTNND1_uc001nlv.3_Missense_Mutation_p.E575K NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 682 ARM 7. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TGCCATCCTAGAAGCCTCAGC 0.458 ZFP91 80829 broad.mit.edu 37 11 58378437 58378437 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:58378437A>T uc001nmx.3 + 5 800 c.632A>T c.(631-633)GAG>GTG p.E211V ZFP91_uc001nmy.3_Missense_Mutation_p.E210V|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 211 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GAAGAGGAAGAGGAGGAGGAA 0.378 PATL1 219988 broad.mit.edu 37 11 59416970 59416970 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:59416970A>G uc001noe.3 - 14 1841 c.1698T>C c.(1696-1698)TAT>TAC p.Y566Y PATL1_uc009yms.1_Silent_p.Y536Y|PATL1_uc010rkw.1_Silent_p.Y271Y NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 566 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 TTAAGTTGTCATACATGCTAC 0.433 STX3 6809 broad.mit.edu 37 11 59564791 59564791 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:59564791G>A uc001nog.2 + 10 1012 c.822G>A c.(820-822)TTG>TTA p.L274L STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Silent_p.L140L NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 274 Helical; Anchor for type IV membrane protein; (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 TAGTTGTGTTGCTGGGCATTT 0.363 INCENP 3619 broad.mit.edu 37 11 61917561 61917561 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:61917561G>A uc001nsw.1 + 18 2626 c.2424G>A c.(2422-2424)CCG>CCA p.P808P INCENP_uc001nsx.1_Silent_p.P804P|INCENP_uc001nsy.1_Silent_p.P222P NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 808 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 AGATGACTCCGCAAGGGCACA 0.562 PYGM 5837 broad.mit.edu 37 11 64525753 64525753 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:64525753C>A uc001oax.3 - 4 1310 c.493G>T c.(493-495)GGG>TGG p.G165W PYGM_uc001oay.3_Intron NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 165 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) TTAAAAATCCCAAACTCATAG 0.572 SYVN1 84447 broad.mit.edu 37 11 64897791 64897791 + Missense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:64897791C>G uc001odb.2 - 12 1260 c.1166G>C c.(1165-1167)GGC>GCC p.G389A SYVN1_uc001odc.2_Missense_Mutation_p.G389A|SYVN1_uc009yqc.2_Missense_Mutation_p.G338A NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 389 Pro-rich.|Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 TGGAAAGGGGCCCATGGGGGG 0.637 LTBP3 4054 broad.mit.edu 37 11 65321785 65321785 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:65321785G>A uc001oej.2 - 2 667 c.398C>T c.(397-399)CCG>CTG p.P133L LTBP3_uc010roi.1_Missense_Mutation_p.P16L|LTBP3_uc001oei.2_Missense_Mutation_p.P133L|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P44L NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 133 EGF-like 1.|Gly-rich. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 AGTGAAGTCCGGGGGACACAG 0.697 TCIRG1 10312 broad.mit.edu 37 11 67818098 67818098 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:67818098T>G uc001one.2 + 19 2489 c.2381T>G c.(2380-2382)CTC>CGC p.L794R TCIRG1_uc001ong.2_Missense_Mutation_p.L578R|TCIRG1_uc001onh.2_Missense_Mutation_p.L496R|TCIRG1_uc001oni.2_Missense_Mutation_p.L298R|TCIRG1_uc009ysd.2_Intron NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 794 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 ATGGAGGGACTCTCAGCCTTC 0.667 P2RY6 5031 broad.mit.edu 37 11 73007624 73007624 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:73007624C>T uc001otm.2 + 4 466 c.61C>T c.(61-63)CGC>TGC p.R21C P2RY6_uc001otn.2_Missense_Mutation_p.R21C|P2RY6_uc001oto.2_Missense_Mutation_p.R21C|P2RY6_uc001otp.2_Missense_Mutation_p.R21C|P2RY6_uc001otq.2_Missense_Mutation_p.R21C|P2RY6_uc001otr.2_Missense_Mutation_p.R21C|P2RY6_uc001ots.2_Missense_Mutation_p.R21C NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 21 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 CTGTGTCTACCGCGAGAACTT 0.602 C2CD3 26005 broad.mit.edu 37 11 73748596 73748596 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:73748596G>A uc001ouu.2 - 30 6035 c.5808C>T c.(5806-5808)AGC>AGT p.S1936S C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1936 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CAGGGTCTAGGCTGCTGGCAC 0.542 CEP164 22897 broad.mit.edu 37 11 117261607 117261607 + Silent SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:117261607A>T uc001prc.2 + 16 2196 c.2049A>T c.(2047-2049)GCA>GCT p.A683A CEP164_uc001prb.2_Silent_p.A686A|CEP164_uc010rxk.1_Silent_p.A657A|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.A116A NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 683 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCACACAAGCAGATGAGGACC 0.602 AMICA1 120425 broad.mit.edu 37 11 118083204 118083204 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:118083204A>G uc001psk.2 - 3 290 c.116T>C c.(115-117)CTG>CCG p.L39P AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L29P|AMICA1_uc001psj.2_Missense_Mutation_p.L39P|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Missense_Mutation_p.L39P|AMICA1_uc001psl.1_Intron NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 39 Ig-like V-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) ACATCCCATCAGAGCTGAATC 0.473 MLL 4297 broad.mit.edu 37 11 118359351 118359351 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:118359351G>T uc001pta.2 + 11 4378 c.4355G>T c.(4354-4356)TGT>TTT p.C1452F MLL_uc001ptb.2_Missense_Mutation_p.C1452F|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1452 PHD-type 1. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CAAGTCTGTTGTGAGCCCTTC 0.398 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL TECTA 7007 broad.mit.edu 37 11 120989148 120989148 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:120989148A>C uc010rzo.1 + 6 924 c.924A>C c.(922-924)AAA>AAC p.K308N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 308 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCGAACCCAAAGGCAAATTCT 0.532 TECTA 7007 broad.mit.edu 37 11 120996139 120996139 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:120996139C>T uc010rzo.1 + 7 1332 c.1332C>T c.(1330-1332)TAC>TAT p.Y444Y NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 444 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GCCAGCACTACGCCTCCATTT 0.488 ZNF202 7753 broad.mit.edu 37 11 123601252 123601252 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:123601252C>A uc001pzd.1 - 4 745 c.345G>T c.(343-345)GAG>GAT p.E115D ZNF202_uc001pzc.1_Translation_Start_Site|ZNF202_uc001pze.1_Missense_Mutation_p.E115D|ZNF202_uc001pzf.1_Missense_Mutation_p.E115D NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 115 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TCACTGCCTCCTCGCCACTTT 0.587 SRPR 6734 broad.mit.edu 37 11 126135974 126135974 + Missense_Mutation SNP G G A rs138456100 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:126135974G>A uc001qdh.2 - 8 986 c.935C>T c.(934-936)GCG>GTG p.A312V SRPR_uc010sbm.1_Missense_Mutation_p.A284V NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 312 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCCCTTGGTCGCACTGCAGGG 0.478 GLB1L2 89944 broad.mit.edu 37 11 134241040 134241040 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:134241040C>A uc001qhp.2 + 13 1542 c.1354C>A c.(1354-1356)CAG>AAG p.Q452K GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 452 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TGATCGGGGGCAGGTAGGAGC 0.542 CD27 939 broad.mit.edu 37 12 6554270 6554270 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:6554270G>A uc001qod.2 + 1 220 c.9G>A c.(7-9)CGG>CGA p.R3R LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 3 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 CCATGGCACGGCCACATCCCT 0.637 CHD4 1108 broad.mit.edu 37 12 6697051 6697051 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:6697051C>T uc001qpo.2 - 24 3694 c.3530G>A c.(3529-3531)CGT>CAT p.R1177H CHD4_uc001qpn.2_Missense_Mutation_p.R1170H|CHD4_uc001qpp.2_Missense_Mutation_p.R1174H NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1177 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CACTGACGCACGGGTCACAAA 0.502 A2M 2 broad.mit.edu 37 12 9243902 9243902 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:9243902G>T uc001qvk.1 - 19 2477 c.2364C>A c.(2362-2364)GCC>GCA p.A788A A2M_uc009zgk.1_Silent_p.A638A NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 788 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) AGGGCTGGAAGGCTCGGAGAG 0.542 CD69 969 broad.mit.edu 37 12 9907700 9907700 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:9907700T>C uc001qwk.2 - 3 426 c.345A>G c.(343-345)GAA>GAG p.E115E CD69_uc010sgu.1_Silent_p.E115E|CD69_uc010sgv.1_Silent_p.E115E NM_001781 NP_001772 Q07108 CD69_HUMAN CD69 molecule 115 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding|transmembrane receptor activity 0 TAGCACCATGTTCAGAACAAG 0.378 MANSC1 54682 broad.mit.edu 37 12 12491412 12491412 + Silent SNP G G A rs147279934 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:12491412G>A uc001rai.1 - 3 564 c.306C>T c.(304-306)AAC>AAT p.N102N MANSC1_uc010shm.1_Silent_p.N36N|MANSC1_uc001raj.1_Silent_p.N68N|MANSC1_uc009zht.1_Silent_p.N21N NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 102 MANSC.|Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AGGCTTCCTCGTTGGGACAGA 0.383 SLCO1B3 28234 broad.mit.edu 37 12 21229503 21229503 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:21229503G>T uc010sil.1 + 15 2113 c.2048G>T c.(2047-2049)GGA>GTA p.G683V LST-3TM12_uc010sim.1_Missense_Mutation_p.G622V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G575V Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ACATATTTGGGGTAAGTTGTC 0.299 HDAC7 51564 broad.mit.edu 37 12 48183343 48183343 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:48183343G>A uc010slo.1 - 18 2305 c.2110C>T c.(2110-2112)CGG>TGG p.R704W HDAC7_uc009zku.2_Intron|HDAC7_uc001rqe.2_Missense_Mutation_p.R138W|HDAC7_uc001rqj.3_Missense_Mutation_p.R667W|HDAC7_uc001rqk.3_Missense_Mutation_p.R687W|HDAC7_uc010slp.1_5'Flank NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 665 Histone deacetylase. R -> W (in Ref. 5; BAA91474). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CCTGGGGGCCGCACCACAGCG 0.532 GPD1 2819 broad.mit.edu 37 12 50499353 50499353 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:50499353A>G uc001rvz.2 + 3 275 c.242A>G c.(241-243)CAG>CGG p.Q81R GPD1_uc010smp.1_Missense_Mutation_p.Q81R|GPD1_uc001rwa.2_Intron NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 81 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) GATGTGGTCCAGGCTGCAGAG 0.592 KRT73 319101 broad.mit.edu 37 12 53004555 53004555 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:53004555G>A uc001sas.2 - 7 1210 c.1175C>T c.(1174-1176)GCC>GTC p.A392V NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 392 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTGGCCCTGGCATCCTTGAG 0.637 KRT8 3856 broad.mit.edu 37 12 53298482 53298482 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:53298482A>T uc001sbd.2 - 1 387 c.284T>A c.(283-285)ATC>AAC p.I95N KRT8_uc009zmj.2_Missense_Mutation_p.I95N|KRT8_uc009zmk.1_Missense_Mutation_p.I123N|KRT8_uc009zml.1_Missense_Mutation_p.I95N|KRT8_uc009zmm.1_Missense_Mutation_p.I95N NM_002273 NP_002264 P05787 K2C8_HUMAN keratin 8 95 Coil 1A.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGGTCTTGATCTGCTCCTT 0.617 ERBB3 2065 broad.mit.edu 37 12 56482560 56482560 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:56482560C>T uc001sjh.2 + 9 1210 c.1017C>T c.(1015-1017)CGC>CGT p.R339R ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.R280R|ERBB3_uc001sji.2_Silent_p.R30R NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 339 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTGGGAGCCGCTTCCAGACTG 0.532 ANKRD52 283373 broad.mit.edu 37 12 56642004 56642004 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:56642004T>C uc001skm.3 - 18 1871 c.1781A>G c.(1780-1782)TAC>TGC p.Y594C NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 594 ANK 17. protein binding ovary(2) 2 GTGACCGTTGTAGGCCTGGCA 0.622 BAZ2A 11176 broad.mit.edu 37 12 56994529 56994529 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:56994529A>G uc001slq.1 - 23 4738 c.4544T>C c.(4543-4545)CTA>CCA p.L1515P BAZ2A_uc001slp.1_Missense_Mutation_p.L1513P|BAZ2A_uc001slo.1_Missense_Mutation_p.L321P|BAZ2A_uc009zov.1_Missense_Mutation_p.L481P|BAZ2A_uc009zow.1_Missense_Mutation_p.L1483P NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1515 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 AAGCACTGCTAGGTCTGTCTC 0.527 GLI1 2735 broad.mit.edu 37 12 57858512 57858512 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:57858512T>C uc001snx.2 + 4 328 c.250T>C c.(250-252)TCC>CCC p.S84P GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 84 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) GCGGGCACTGTCCATCTCACC 0.582 AVIL 10677 broad.mit.edu 37 12 58209783 58209783 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:58209783G>A uc001sqj.1 - 1 70 c.41C>T c.(40-42)CCT>CTT p.P14L AVIL_uc009zqe.1_5'UTR|AVIL_uc001sql.3_5'Flank NM_006576 NP_006567 O75366 AVIL_HUMAN advillin 14 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AATGATCCCAGGGTCGTTGTC 0.547 XPOT 11260 broad.mit.edu 37 12 64803776 64803776 + Translation_Start_Site SNP C C T rs147876387 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:64803776C>T uc001ssb.2 + 2 387 c.-39C>T c.(-41--37)CACGC>CATGC XPOT_uc009zqm.1_Translation_Start_Site NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TCAGAGGGCACGCCTATTACA 0.368 NUP107 57122 broad.mit.edu 37 12 69109437 69109437 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:69109437C>T uc001suf.2 + 12 1115 c.1000C>T c.(1000-1002)CCC>TCC p.P334S NUP107_uc001sug.2_Missense_Mutation_p.P181S|NUP107_uc010stj.1_Missense_Mutation_p.P305S NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 334 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ACAGAAAATGCCCCTTGATGA 0.373 PTPRR 5801 broad.mit.edu 37 12 71094956 71094956 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:71094956G>A uc001swi.1 - 7 1571 c.1155C>T c.(1153-1155)GAC>GAT p.D385D PTPRR_uc001swh.1_Silent_p.D140D|PTPRR_uc009zrs.2_Silent_p.D234D|PTPRR_uc010stq.1_Silent_p.D273D|PTPRR_uc010str.1_Silent_p.D234D NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 385 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TTGCCACGACGTCCCTCAGCT 0.458 TRHDE 29953 broad.mit.edu 37 12 72666574 72666574 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:72666574G>A uc001sxa.2 + 1 46 c.16G>A c.(16-18)GCC>ACC p.A6T LOC283392_uc010stv.1_Missense_Mutation_p.R46C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 6 Cytoplasmic (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGAAGACGACGCCGCGCTTCG 0.537 PPFIA2 8499 broad.mit.edu 37 12 81657028 81657028 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:81657028T>C uc001szo.1 - 31 3858 c.3697A>G c.(3697-3699)AGA>GGA p.R1233G PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 1132 ovary(3)|lung(2)|pancreas(1) 6 GTCATTTTTCTTGACTGCCCA 0.423 PRDM4 11108 broad.mit.edu 37 12 108147777 108147777 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:108147777T>C uc001tmp.2 - 4 692 c.255A>G c.(253-255)TTA>TTG p.L85L PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 85 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TTCTTTCAGGTAACCCACACA 0.488 ACACB 32 broad.mit.edu 37 12 109690945 109690945 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:109690945G>A uc001tob.2 + 43 6146 c.6027G>A c.(6025-6027)TGG>TGA p.W2009* ACACB_uc001toc.2_Nonsense_Mutation_p.W2009*|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Nonsense_Mutation_p.W675* NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2009 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) TCCTGGAGTGGCTGTCCTATA 0.512 PITPNM2 57605 broad.mit.edu 37 12 123490022 123490022 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:123490022C>A uc001uej.1 - 6 856 c.717G>T c.(715-717)ATG>ATT p.M239I PITPNM2_uc001uek.1_Missense_Mutation_p.M239I|PITPNM2_uc009zxu.1_Missense_Mutation_p.M239I NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 239 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGATGTTCTCCATGCTCAGCC 0.612 TCTN2 79867 broad.mit.edu 37 12 124155800 124155800 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:124155800C>T uc001ufp.2 + 1 141 c.13C>T c.(13-15)CCT>TCT p.P5S TCTN2_uc009zya.2_Missense_Mutation_p.P5S NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 5 cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GGGCTTCCAGCCTCCGGCCGC 0.632 DNAH10 196385 broad.mit.edu 37 12 124265777 124265777 + Missense_Mutation SNP C C T rs144283758 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:124265777C>T uc001uft.3 + 6 614 c.589C>T c.(589-591)CGG>TGG p.R197W NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 197 Stem (By similarity). 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) TCAATTAATACGGGATGAATT 0.403 TMEM132D 121256 broad.mit.edu 37 12 129559011 129559011 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:129559011C>A uc009zyl.1 - 9 3037 c.2709G>T c.(2707-2709)GGG>GGT p.G903G TMEM132D_uc001uia.2_Silent_p.G441G NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 903 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TAAGGTCATTCCCATCCATTT 0.507 TMEM132D 121256 broad.mit.edu 37 12 129559436 129559436 + Nonsense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:129559436C>A uc009zyl.1 - 9 2612 c.2284G>T c.(2284-2286)GGA>TGA p.G762* TMEM132D_uc001uia.2_Nonsense_Mutation_p.G300* NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 762 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGCCTTGTCCTTCTGTTTCC 0.473 RIMBP2 23504 broad.mit.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:130884319A>T uc001uil.2 - 18 3201 c.3037T>A c.(3037-3039)TTC>ATC p.F1013I NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 1013 SH3 3. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCTTCCAAGAAGTTTGAGGGC 0.463 RIMBP2 23504 broad.mit.edu 37 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:130898840G>A uc001uil.2 - 14 2646 c.2482C>T c.(2482-2484)CGA>TGA p.R828* NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 828 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGCGGTCTCGCCCGTAATCG 0.567 EP400 57634 broad.mit.edu 37 12 132464315 132464315 + Missense_Mutation SNP C C T rs111485547 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:132464315C>T uc001ujn.2 + 2 1447 c.1412C>T c.(1411-1413)GCG>GTG p.A471V EP400_uc001ujl.2_Missense_Mutation_p.A470V|EP400_uc001ujm.2_Missense_Mutation_p.A471V|EP400_uc001ujj.1_Missense_Mutation_p.A470V|EP400_uc001ujk.2_Missense_Mutation_p.A507V NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 507 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) AGGCAGCAGGCGATGCCCTCC 0.592 EP400 57634 broad.mit.edu 37 12 132471349 132471349 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:132471349T>G uc001ujn.2 + 5 2255 c.2220T>G c.(2218-2220)ACT>ACG p.T740T EP400_uc001ujl.2_Silent_p.T739T|EP400_uc001ujm.2_Silent_p.T740T|EP400_uc001ujj.1_Silent_p.T703T|EP400_uc001ujk.2_Silent_p.T776T NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 776 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) AACAAATAACTCTGGTAAGCA 0.463 EP400 57634 broad.mit.edu 37 12 132511986 132511986 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:132511986C>T uc001ujn.2 + 25 5054 c.5019C>T c.(5017-5019)GGC>GGT p.G1673G EP400_uc001ujl.2_Silent_p.G1672G|EP400_uc001ujm.2_Silent_p.G1592G NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1709 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) TTGTAGTTGGCGTTCCGGGCC 0.567 TNFRSF19 55504 broad.mit.edu 37 13 24233283 24233283 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:24233283C>T uc001uov.1 + 6 604 c.540C>T c.(538-540)ACC>ACT p.T180T TNFRSF19_uc001uot.2_Silent_p.T180T|TNFRSF19_uc010tcu.1_Silent_p.T48T|TNFRSF19_uc001uow.2_Silent_p.T180T NM_018647 NP_061117 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, 180 Helical; (Potential). apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity kidney(1)|skin(1) 2 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) CTCTGGCCACCGTCCTGCTGG 0.547 SOHLH2 54937 broad.mit.edu 37 13 36748962 36748962 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:36748962G>A uc001uvj.2 - 7 775 c.686C>T c.(685-687)CCG>CTG p.P229L SOHLH2_uc010tei.1_Missense_Mutation_p.P306L NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 229 Helix-loop-helix motif. cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TTTTACATACGGCAAGAGAGT 0.408 CCNA1 8900 broad.mit.edu 37 13 37012966 37012966 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:37012966A>G uc001uvr.3 + 5 1205 c.855A>G c.(853-855)AAA>AAG p.K285K CCNA1_uc010teo.1_Silent_p.K241K|CCNA1_uc010abq.2_Silent_p.K241K|CCNA1_uc010abp.2_Silent_p.K241K|CCNA1_uc001uvs.3_Silent_p.K284K|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 285 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGAGAGGGAAACTGCAGCTCG 0.428 DGKH 160851 broad.mit.edu 37 13 42701682 42701682 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:42701682C>T uc001uyl.1 + 2 297 c.276C>T c.(274-276)CGC>CGT p.R92R DGKH_uc010tfh.1_Silent_p.R92R|DGKH_uc001uym.1_Silent_p.R92R NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 92 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTCGAGGCCGCACCCTTTACT 0.413 CCDC122 160857 broad.mit.edu 37 13 44434049 44434049 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:44434049A>G uc010acf.2 - 5 573 c.314T>C c.(313-315)GTA>GCA p.V105A CCDC122_uc010tfn.1_Missense_Mutation_p.V105A NM_144974 NP_659411 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 105 Potential. 0 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TTTAAGCTTTACATTTTCTGA 0.294 PCDH9 5101 broad.mit.edu 37 13 67801050 67801050 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:67801050A>G uc001vik.2 - 2 2215 c.1523T>C c.(1522-1524)CTT>CCT p.L508P PCDH9_uc001vil.2_Missense_Mutation_p.L508P|PCDH9_uc010thl.1_Missense_Mutation_p.L508P|PCDH9_uc001vin.3_Missense_Mutation_p.L508P NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 508 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ATTCGGTCCAAGCTGATAAAC 0.413 POU4F1 5457 broad.mit.edu 37 13 79175974 79175974 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:79175974C>T uc001vkv.2 - 2 1070 c.836G>A c.(835-837)CGC>CAC p.R279H uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 279 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) CAGCTTGATGCGCCGCTGCTT 0.677 SLITRK5 26050 broad.mit.edu 37 13 88328786 88328786 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:88328786C>A uc001vln.2 + 2 1362 c.1143C>A c.(1141-1143)AAC>AAA p.N381K SLITRK5_uc010tic.1_Missense_Mutation_p.N140K NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 381 Extracellular (Potential).|LRRNT. integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCTCTTGCAACCTGCAGATCT 0.552 GPC5 2262 broad.mit.edu 37 13 92101092 92101092 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:92101092G>A uc010tif.1 + 2 607 c.241G>A c.(241-243)GCT>ACT p.A81T NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 81 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TCAGATTGCGGCTCGCCAGGA 0.433 ABCC4 10257 broad.mit.edu 37 13 95840745 95840745 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:95840745C>T uc001vmd.3 - 10 1434 c.1315G>A c.(1315-1317)GAA>AAA p.E439K ABCC4_uc010afk.2_Missense_Mutation_p.E439K|ABCC4_uc001vme.2_Missense_Mutation_p.E439K|ABCC4_uc010tih.1_Missense_Mutation_p.E364K|ABCC4_uc001vmf.2_Missense_Mutation_p.E396K|ABCC4_uc010afl.1_Missense_Mutation_p.E396K|ABCC4_uc010afm.1_Missense_Mutation_p.E452K NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 439 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) GCTAACAATTCGCCAGGTCTG 0.453 FARP1 10160 broad.mit.edu 37 13 99037041 99037041 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:99037041A>G uc001vnj.2 + 7 890 c.554A>G c.(553-555)TAC>TGC p.Y185C FARP1_uc001vnh.2_Missense_Mutation_p.Y185C NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 185 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAAAATAAATACATACCTCAG 0.408 PARP2 10038 broad.mit.edu 37 14 20818769 20818769 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:20818769A>G uc001vxc.2 + 5 476 c.448A>G c.(448-450)AGA>GGA p.R150G PARP2_uc001vxd.2_Missense_Mutation_p.R137G|PARP2_uc001vxb.1_Missense_Mutation_p.R150G NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 150 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) TGTTTGGATGAGATGGGGCCG 0.403 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA TEP1 7011 broad.mit.edu 37 14 20841176 20841176 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:20841176T>G uc001vxe.2 - 48 6985 c.6945A>C c.(6943-6945)ACA>ACC p.T2315T TEP1_uc010ahj.1_RNA|TEP1_uc010ahk.2_Silent_p.T1658T|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.T2207T|TEP1_uc010tlh.1_Silent_p.T653T NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 2315 WD 16. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCACCTGTGCTGTGGCCACAG 0.532 PNP 4860 broad.mit.edu 37 14 20942680 20942680 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:20942680C>A uc001vxo.3 + 3 373 c.231C>A c.(229-231)GCC>GCA p.A77A PNP_uc010ahn.2_Silent_p.A77A|PNP_uc001vxn.3_Translation_Start_Site NM_000270 NP_000261 P00491 PNPH_HUMAN nucleoside phosphorylase 77 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity ovary(2) 2 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) ATGGCAGGGCCTGTGTGATGA 0.473 EFS 10278 broad.mit.edu 37 14 23829429 23829429 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:23829429C>A uc001wjo.2 - 3 967 c.359G>T c.(358-360)TGC>TTC p.C120F EFS_uc001wjp.2_Missense_Mutation_p.C27F|EFS_uc010tnm.1_Missense_Mutation_p.C27F NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 120 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGAGGGTGGGCAAGGTCCAGC 0.612 NPAS3 64067 broad.mit.edu 37 14 34269602 34269602 + Missense_Mutation SNP G G A rs141427321 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:34269602G>A uc001wru.2 + 12 2153 c.2089G>A c.(2089-2091)GGC>AGC p.G697S NPAS3_uc001wrs.2_Missense_Mutation_p.G684S|NPAS3_uc001wrt.2_Missense_Mutation_p.G665S|NPAS3_uc001wrv.2_Missense_Mutation_p.G667S NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 697 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CCCGCAGGGCGGCGGCGGTGG 0.572 SSTR1 6751 broad.mit.edu 37 14 38679277 38679277 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:38679277T>C uc001wul.1 + 3 1300 c.683T>C c.(682-684)TTT>TCT p.F228S SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 228 Helical; Name=5; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TTGTACACATTTCTCATGGGC 0.617 MGAT2 4247 broad.mit.edu 37 14 50088621 50088621 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:50088621A>G uc001wwr.2 + 1 1133 c.635A>G c.(634-636)AAT>AGT p.N212S SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 212 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) GGGTGCATCAATGCTGAGTAT 0.493 GPR135 64582 broad.mit.edu 37 14 59930741 59930741 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:59930741G>A uc010apj.2 - 1 1319 c.1204C>T c.(1204-1206)CGC>TGC p.R402C GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 402 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) CCCTCCTCGCGGTTGCGCCCT 0.632 ZFYVE26 23503 broad.mit.edu 37 14 68238816 68238816 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:68238816G>A uc001xka.2 - 28 5571 c.5432C>T c.(5431-5433)CCG>CTG p.P1811L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.P1811L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1811 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGTCTCATCCGGTACCCACTG 0.562 AHSA1 10598 broad.mit.edu 37 14 77935519 77935519 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:77935519C>T uc001xtw.2 + 9 1104 c.944C>T c.(943-945)ACG>ATG p.T315M NM_012111 NP_036243 O95433 AHSA1_HUMAN activator of heat shock 90kDa protein ATPase 315 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAAGAGCGGACGCGACAGGGC 0.577 KIAA1409 57578 broad.mit.edu 37 14 93954017 93954017 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:93954017T>C uc001ybv.1 + 2 180 c.97T>C c.(97-99)TCA>CCA p.S33P KIAA1409_uc001ybs.1_Missense_Mutation_p.S33P|KIAA1409_uc001ybu.1_Missense_Mutation_p.S33P NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 210 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AGTGGGCTCCTCAAGGAGAGA 0.408 C14orf177 283598 broad.mit.edu 37 14 99182697 99182697 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:99182697G>A uc001yfz.1 + 3 588 c.169G>A c.(169-171)GCC>ACC p.A57T NM_182560 NP_872366 Q52M58 CN177_HUMAN hypothetical protein LOC283598 57 0 Melanoma(154;0.128) CAAGCAGCATGCCCTGACGCT 0.478 HERC2 8924 broad.mit.edu 37 15 28473458 28473458 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:28473458G>A uc001zbj.2 - 35 5476 c.5370C>T c.(5368-5370)CTC>CTT p.L1790L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1790 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGAGCATGCTGAGCATCACCA 0.612 CHRNA7 1139 broad.mit.edu 37 15 32460285 32460285 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:32460285G>A uc001zft.2 + 10 1207 c.1135G>A c.(1135-1137)GCC>ACC p.A379T uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.A198T|CHRNA7_uc010bak.2_Missense_Mutation_p.A294T NM_000746 NP_000737 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 379 Cytoplasmic (Potential). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding ovary(1) 1 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) GCCGCCGCCCGCCAGCAACGG 0.716 FMN1 342184 broad.mit.edu 37 15 33359423 33359423 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:33359423G>A uc001zhf.3 - 1 663 c.663C>T c.(661-663)AAC>AAT p.N221N FMN1_uc001zhg.2_Silent_p.N221N NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:Variant_position_missing_in_Q68DA7_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GAAGACCACCGTTGCCAGCTT 0.527 FAM98B 283742 broad.mit.edu 37 15 38773701 38773701 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:38773701T>C uc001zkb.1 + 7 973 c.938T>C c.(937-939)ATA>ACA p.I313T FAM98B_uc001zkc.2_Intron NM_001042429 NP_001035894 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 313 tRNA-splicing ligase complex protein binding ovary(1) 1 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GAATTGATGATATCTTACTTA 0.383 PLA2G4D 283748 broad.mit.edu 37 15 42371822 42371822 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:42371822C>A uc001zox.2 - 13 1325 c.1230G>T c.(1228-1230)CGG>CGT p.R410R NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 410 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GCTCCAGCTCCCGGCGGTAGC 0.677 LIPC 3990 broad.mit.edu 37 15 58838067 58838067 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:58838067T>C uc010bga.1 + 7 1309 c.701T>C c.(700-702)ATC>ACC p.I234T LIPC_uc010bfz.1_Missense_Mutation_p.I234T|LIPC_uc002afa.1_Missense_Mutation_p.I234T|LIPC_uc010bgb.1_Missense_Mutation_p.I132T|LIPC_uc010ugy.1_Missense_Mutation_p.I173T NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 234 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AGCGTGGGCATCAAACAGCCC 0.552 RAB8B 51762 broad.mit.edu 37 15 63551864 63551864 + Silent SNP C C T rs138589907 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:63551864C>T uc002alz.2 + 6 549 c.453C>T c.(451-453)AGC>AGT p.S151S RAB8B_uc010uih.1_Silent_p.S151S NM_016530 NP_057614 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 151 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1)|kidney(1) 2 TGGAGACAAGCGCAAAATCCA 0.388 MAN2C1 4123 broad.mit.edu 37 15 75651071 75651071 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:75651071G>A uc002baf.2 - 19 2237 c.2220C>T c.(2218-2220)GAC>GAT p.D740D MAN2C1_uc002bag.2_Silent_p.D740D|MAN2C1_uc002bah.2_Silent_p.D757D|MAN2C1_uc010bkk.2_Silent_p.D641D NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 740 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 AGTCCATGACGTCCCATGCAT 0.577 BNC1 646 broad.mit.edu 37 15 83935708 83935708 + Silent SNP G G A rs140144251 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:83935708G>A uc002bjt.1 - 3 403 c.315C>T c.(313-315)CCC>CCT p.P105P BNC1_uc010uos.1_Silent_p.P93P NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 105 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTAGGCGAACGGGGATGGCCT 0.507 ZSCAN2 54993 broad.mit.edu 37 15 85165031 85165031 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:85165031C>T uc002bkr.2 + 3 1831 c.1605C>T c.(1603-1605)TGC>TGT p.C535C ZSCAN2_uc010bmz.1_Silent_p.C533C|ZSCAN2_uc010bna.2_Silent_p.C385C|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 535 C2H2-type 12. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GCCTCATGTGCGGCAAGAGCT 0.587 MRPS11 64963 broad.mit.edu 37 15 89010975 89010975 + Silent SNP G G A rs2289417 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:89010975G>A uc002bml.2 + 1 292 c.27G>A c.(25-27)TCG>TCA p.S9S MRPL46_uc002bmi.1_5'Flank|MRPL46_uc002bmj.2_5'Flank|MRPL46_uc002bmk.2_5'Flank|MRPS11_uc002bmm.2_Silent_p.S9S|MRPS11_uc002bmn.2_Silent_p.S9S|MRPS11_uc010bnj.2_RNA NM_022839 NP_073750 P82912 RT11_HUMAN mitochondrial ribosomal protein S11 isoform a 9 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) ACGCGGGGTCGCGGTTCCTGC 0.627 FANCI 55215 broad.mit.edu 37 15 89811680 89811680 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:89811680G>T uc010bnp.1 + 10 896 c.806G>T c.(805-807)GGC>GTC p.G269V FANCI_uc002bnm.1_Missense_Mutation_p.G269V|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.G90V NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 269 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) CATGTGGAAGGCACCATTATT 0.358 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia IQGAP1 8826 broad.mit.edu 37 15 91037956 91037956 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:91037956A>G uc002bpl.1 + 36 4741 c.4640A>G c.(4639-4641)AAG>AGG p.K1547R IQGAP1_uc010uqg.1_Missense_Mutation_p.K168R NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1547 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GTCTCCAAAAAGCCTAGGGAA 0.363 SYNM 23336 broad.mit.edu 37 15 99672605 99672605 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:99672605G>A uc002bup.2 + 6 4160 c.4040G>A c.(4039-4041)GGC>GAC p.G1347D SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1347 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 CACGGAGAGGGCTCAGCAGAT 0.547 ADAMTS17 170691 broad.mit.edu 37 15 100649263 100649263 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:100649263G>A uc002bvv.1 - 14 2026 c.1947C>T c.(1945-1947)GCC>GCT p.A649A ADAMTS17_uc002bvx.1_Silent_p.A406A NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 649 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GGACCCTGTCGGCCACCAGCA 0.612 MPG 4350 broad.mit.edu 37 16 135493 135493 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:135493C>A uc002cfn.2 + 5 932 c.614C>A c.(613-615)GCC>GAC p.A205D MPG_uc002cfm.2_Missense_Mutation_p.A188D|MPG_uc002cfo.2_Missense_Mutation_p.A200D|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron NM_002434 NP_002425 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase isoform a 205 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding ovary(1)|skin(1) 2 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AAAGGCACCGCCAGCCGTGTC 0.657 BER_DNA_glycosylases MPG 4350 broad.mit.edu 37 16 135720 135720 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:135720G>T uc002cfn.2 + 5 1159 c.841G>T c.(841-843)GGC>TGC p.G281C MPG_uc002cfm.2_Missense_Mutation_p.G264C|MPG_uc002cfo.2_Missense_Mutation_p.G276C|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron NM_002434 NP_002425 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase isoform a 281 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding ovary(1)|skin(1) 2 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTATGTCCGGGGCAGCCCCTG 0.622 BER_DNA_glycosylases PDIA2 64714 broad.mit.edu 37 16 335661 335661 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:335661C>A uc002cgn.1 + 12 2185 c.1077C>A c.(1075-1077)TCC>TCA p.S359S PDIA2_uc010bqt.1_Silent_p.S204S|PDIA2_uc002cgo.1_Silent_p.S359S NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 359 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CCGCAGCGTCCATCACTGCTT 0.582 TMEM204 79652 broad.mit.edu 37 16 1584349 1584349 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:1584349G>A uc002cmc.2 + 2 471 c.73G>A c.(73-75)GCC>ACC p.A25T IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.A25T|TMEM204_uc010brr.1_Missense_Mutation_p.A25T NM_024600 NP_078876 Q9BSN7 TM204_HUMAN transmembrane protein 204 25 Helical; (Potential). response to stress adherens junction|integral to membrane 0 Hepatocellular(780;0.219) CAACGTGGCGGCCTTCACCTC 0.692 IFT140 9742 broad.mit.edu 37 16 1652483 1652483 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:1652483G>A uc002cmb.2 - 4 619 c.257C>T c.(256-258)ACG>ATG p.T86M NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 86 WD 2. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GTTAAACACCGTCACTTCTCC 0.622 MAPK8IP3 23162 broad.mit.edu 37 16 1817877 1817877 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:1817877G>T uc002cmk.2 + 28 3598 c.3478G>T c.(3478-3480)GGC>TGC p.G1160C MAPK8IP3_uc002cml.2_Missense_Mutation_p.G1154C|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.G1161C NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1160 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GCTCTGGGTGGGCACCGGCAA 0.657 PKD1 5310 broad.mit.edu 37 16 2164260 2164260 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:2164260G>T uc002cos.1 - 11 2973 c.2764C>A c.(2764-2766)CTC>ATC p.L922I PKD1_uc002cot.1_Missense_Mutation_p.L922I NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 922 Extracellular (Potential).|PKD 3. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CGCAGGCTGAGGTTGGCCCGG 0.667 TRAF7 84231 broad.mit.edu 37 16 2225603 2225603 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:2225603G>A uc002cow.2 + 17 1705 c.1606G>A c.(1606-1608)GGC>AGC p.G536S NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 536 WD 4. activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCTGTACAGCGGCTCCTACCA 0.632 CCNF 899 broad.mit.edu 37 16 2487152 2487152 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:2487152C>T uc002cqd.1 + 5 457 c.369C>T c.(367-369)CGC>CGT p.R123R CCNF_uc002cqe.1_5'UTR NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 123 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) ATGAGGCCCGCGCAGAAGTGA 0.587 PRSS22 64063 broad.mit.edu 37 16 2905627 2905627 + Silent SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:2905627G>C uc002cry.1 - 4 573 c.507C>G c.(505-507)CTC>CTG p.L169L PRSS22_uc002crz.1_Intron NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 169 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 TGTTTGGAGGGAGGTGGATAG 0.602 ZNF205 7755 broad.mit.edu 37 16 3170173 3170173 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:3170173C>T uc002cub.2 + 7 1647 c.1512C>T c.(1510-1512)TAC>TAT p.Y504Y ZNF205_uc002cua.2_Silent_p.Y504Y NM_001042428 NP_001035893 O95201 ZN205_HUMAN zinc finger protein 205 504 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TGCGGCCCTACGCCTGCCCGT 0.687 ANKS3 124401 broad.mit.edu 37 16 4751097 4751097 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:4751097T>G uc002cxj.1 - 11 1453 c.1158A>C c.(1156-1158)CAA>CAC p.Q386H ANKS3_uc010uxr.1_5'Flank|ANKS3_uc002cxh.1_5'Flank|ANKS3_uc002cxi.1_Missense_Mutation_p.Q313H|ANKS3_uc002cxk.2_Missense_Mutation_p.Q257H|ANKS3_uc002cxl.2_Missense_Mutation_p.Q213H|ANKS3_uc010uxs.1_Missense_Mutation_p.Q313H|ANKS3_uc002cxm.2_Missense_Mutation_p.Q180H NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 386 0 AACTTTTAGCTTGTTTGCGAG 0.552 ANKS4B 257629 broad.mit.edu 37 16 21261872 21261872 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:21261872C>T uc010bwp.1 + 2 1028 c.985C>T c.(985-987)CTG>TTG p.L329L CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 329 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) CAAAGATGATCTGCCGTGGGA 0.522 CACNG3 10368 broad.mit.edu 37 16 24372865 24372865 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:24372865A>C uc002dmf.2 + 4 1829 c.629A>C c.(628-630)AAA>ACA p.K210T NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 210 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) TTACGAGCCAAATCCCACTCG 0.498 ZKSCAN2 342357 broad.mit.edu 37 16 25251408 25251408 + Missense_Mutation SNP C C T rs61742943 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:25251408C>T uc002dod.3 - 7 3040 c.2633G>A c.(2632-2634)CGG>CAG p.R878Q ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R674Q NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 878 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) GTGAACTCTCCGGTGGGCGCT 0.453 ATXN2L 11273 broad.mit.edu 37 16 28837682 28837682 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:28837682G>A uc002drc.2 + 5 755 c.587G>A c.(586-588)CGA>CAA p.R196Q uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.R196Q|ATXN2L_uc002drb.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dqy.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dra.2_Missense_Mutation_p.R196Q|ATXN2L_uc002dqz.2_Missense_Mutation_p.R196Q|ATXN2L_uc010vdb.1_Missense_Mutation_p.R196Q|ATXN2L_uc002dre.2_Missense_Mutation_p.R196Q|ATXN2L_uc002drf.2_5'UTR NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 196 membrane upper_aerodigestive_tract(1)|ovary(1) 2 GTTCACTTCCGAAATGTTGAC 0.502 NFATC2IP 84901 broad.mit.edu 37 16 28970422 28970422 + Splice_Site SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:28970422G>C uc002dru.2 + 7 1116 c.1101_splice c.e7+1 p.R367_splice uc010vct.1_Intron|NFATC2IP_uc002drt.2_Splice_Site_p.R88_splice|NFATC2IP_uc002drv.2_Splice_Site_p.R86_splice|NFATC2IP_uc010vdh.1_Splice_Site_p.R75_splice NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasm|nucleus ovary(1) 1 ACTGTCTCGAGTGAGTGGGAG 0.542 ASPHD1 253982 broad.mit.edu 37 16 29913005 29913005 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:29913005C>T uc002dut.2 + 1 859 c.713C>T c.(712-714)CCT>CTT p.P238L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'Flank|SEZ6L2_uc002dur.3_5'Flank|SEZ6L2_uc002duq.3_5'Flank|SEZ6L2_uc002dus.3_5'Flank|SEZ6L2_uc010vec.1_5'Flank|SEZ6L2_uc010ved.1_5'Flank|ASPHD1_uc002duu.3_RNA|ASPHD1_uc010bzi.2_RNA NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 238 Lumenal (Potential). peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity 0 ACCCCTCCGCCTCGGGGCTGG 0.701 TBX6 6911 broad.mit.edu 37 16 30097645 30097645 + Silent SNP C C T rs140493598 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:30097645C>T uc010veh.1 - 9 1272 c.1212G>A c.(1210-1212)GCG>GCA p.A404A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 404 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 CAAAGGGTACCGCCGGTGGAG 0.667 ADCY7 113 broad.mit.edu 37 16 50339707 50339707 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:50339707G>A uc002egd.1 + 13 1967 c.1699G>A c.(1699-1701)GAT>AAT p.D567N ADCY7_uc002egc.1_Missense_Mutation_p.D567N NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 567 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CTCCAAGTCCGATGACTTCTA 0.667 NLRC5 84166 broad.mit.edu 37 16 57060176 57060176 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:57060176C>T uc002ekk.1 + 6 1546 c.1321C>T c.(1321-1323)CAG>TAG p.Q441* NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Nonsense_Mutation_p.Q246*|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q246*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q246*|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 441 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GCTCTATATGCAGATGGTGCT 0.637 NLRC5 84166 broad.mit.edu 37 16 57060249 57060249 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:57060249T>C uc002ekk.1 + 6 1619 c.1394T>C c.(1393-1395)CTG>CCG p.L465P NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.L270P|NLRC5_uc002ekl.2_Missense_Mutation_p.L270P|NLRC5_uc002ekm.2_Missense_Mutation_p.L270P|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 465 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) GAGGTGGCCCTGAGGGGCCTG 0.582 CNOT1 23019 broad.mit.edu 37 16 58557362 58557362 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:58557362G>T uc002env.2 - 47 7122 c.6829C>A c.(6829-6831)CCA>ACA p.P2277T CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P2272T|CNOT1_uc002ent.2_Missense_Mutation_p.P215T|CNOT1_uc010vik.1_Missense_Mutation_p.P1234T NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2277 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGGCTATTTGGGTACCGGAGC 0.448 CES2 8824 broad.mit.edu 37 16 66976054 66976054 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:66976054G>A uc002eqr.2 + 9 2376 c.1376G>A c.(1375-1377)GGG>GAG p.G459E CES2_uc002eqq.2_Missense_Mutation_p.G459E|CES2_uc002eqs.2_Missense_Mutation_p.G302E NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 395 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GAGTACATTGGGGACAATGGG 0.552 KIAA0895L 653319 broad.mit.edu 37 16 67214239 67214239 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:67214239C>T uc002ert.2 - 2 1050 c.275G>A c.(274-276)CGG>CAG p.R92Q KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.R92Q|EXOC3L_uc002erv.1_RNA NM_001040715 NP_001035805 Q68EN5 K895L_HUMAN hypothetical protein LOC653319 92 0 GCCACGCCCCCGCCGGCCAGT 0.667 SLC9A5 6553 broad.mit.edu 37 16 67292327 67292327 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:67292327G>A uc002esm.2 + 10 1666 c.1603G>A c.(1603-1605)GAT>AAT p.D535N SLC9A5_uc010cee.2_Missense_Mutation_p.D240N|SLC9A5_uc010vji.1_Missense_Mutation_p.D39N NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 535 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TAACATCCGGGATGCCATCAG 0.577 ST3GAL2 6483 broad.mit.edu 37 16 70422378 70422378 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:70422378G>T uc002eyw.2 - 3 2713 c.605C>A c.(604-606)CCT>CAT p.P202H ST3GAL2_uc002eyx.2_Missense_Mutation_p.P202H NM_006927 NP_008858 Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 202 Lumenal (Potential). amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity ovary(1) 1 Ovarian(137;0.0694) GGCACTCTCAGGGTACATGAA 0.592 KLHL36 79786 broad.mit.edu 37 16 84690684 84690684 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:84690684G>A uc002fig.2 + 3 412 c.271G>A c.(271-273)GGC>AGC p.G91S KLHL36_uc010chl.2_Missense_Mutation_p.G90S NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 91 BTB. skin(2) 2 GGAGCTGATCGGCGCCTCCTA 0.612 SNAI3 333929 broad.mit.edu 37 16 88748098 88748098 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:88748098C>T uc002flj.2 - 2 169 c.101G>A c.(100-102)TGT>TAT p.C34Y MGC23284_uc002fli.3_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN snail homolog 3 34 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.048) CAGCCCCCCACAGGCAGAGCA 0.612 ACSF3 197322 broad.mit.edu 37 16 89167698 89167698 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:89167698T>C uc002fmp.2 + 3 949 c.609T>C c.(607-609)AGT>AGC p.S203S ACSF3_uc010cig.1_Silent_p.S203S|ACSF3_uc010cih.1_Intron|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'Flank NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 203 ATP (By similarity). fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) TCTACACCAGTGGGACCACGG 0.627 ABR 29 broad.mit.edu 37 17 914045 914045 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:914045C>T uc002fsd.2 - 20 2270 c.2160G>A c.(2158-2160)ACG>ACA p.T720T ABR_uc002fse.2_Silent_p.T674T|ABR_uc010vqf.1_Silent_p.T171T|ABR_uc010vqg.1_Silent_p.T502T|ABR_uc002fsg.2_Silent_p.T683T|ABR_uc002fsh.1_Silent_p.T328T|ABR_uc002fsf.2_Silent_p.T257T NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 720 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACAGCTTGAGCGTCCCGGCGA 0.627 TRPV1 7442 broad.mit.edu 37 17 3494385 3494385 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:3494385C>T uc010vrr.1 - 3 1004 c.477G>A c.(475-477)CTG>CTA p.L159L TRPV1_uc010vro.1_Silent_p.L159L|TRPV1_uc010vrp.1_Silent_p.L159L|TRPV1_uc010vrq.1_Silent_p.L157L|TRPV1_uc010vrs.1_Silent_p.L159L|TRPV1_uc010vrt.1_Silent_p.L159L|TRPV1_uc010vru.1_Silent_p.L159L NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 159 Cytoplasmic (Potential).|ANK 2. cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) TGGCTTTCAGCAGACAGGTCT 0.632 KIF1C 10749 broad.mit.edu 37 17 4905816 4905816 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:4905816C>T uc002gan.1 + 7 813 c.487C>T c.(487-489)CGG>TGG p.R163W NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 163 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 CCCCAAGAGTCGGGGTTCTCT 0.537 DHX33 56919 broad.mit.edu 37 17 5364373 5364373 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:5364373G>A uc002gca.2 - 4 737 c.735C>T c.(733-735)GGC>GGT p.G245G DHX33_uc002gbz.2_Silent_p.G16G|DHX33_uc002gcb.2_Silent_p.G72G|DHX33_uc010clf.2_Intron NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 245 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GGACGGGGGCGCCATTGAAAT 0.517 ACAP1 9744 broad.mit.edu 37 17 7246726 7246726 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:7246726C>T uc002ggd.2 + 6 579 c.373C>T c.(373-375)CGG>TGG p.R125W NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 125 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 AGAGGCTCGCCGGGATTTCTG 0.637 DNAH9 1770 broad.mit.edu 37 17 11607574 11607574 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:11607574G>T uc002gne.2 + 25 5274 c.5206G>T c.(5206-5208)GCC>TCC p.A1736S DNAH9_uc010coo.2_Missense_Mutation_p.A1030S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1736 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATGGCATTTGCCAGGCTGGA 0.507 DNAH9 1770 broad.mit.edu 37 17 11671900 11671900 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:11671900A>T uc002gne.2 + 37 7369 c.7301A>T c.(7300-7302)AAG>ATG p.K2434M DNAH9_uc010coo.2_Missense_Mutation_p.K1728M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2434 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCTTGGTCCAAGCTCGTCCCC 0.532 TTC19 54902 broad.mit.edu 37 17 15902817 15902817 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:15902817G>A uc002gph.1 + 1 36 c.18G>A c.(16-18)ACG>ACA p.T6T ZSWIM7_uc002gpe.2_Intron|ZSWIM7_uc002gpf.2_Intron|ZSWIM7_uc002gpg.2_Intron|TTC19_uc010cox.1_RNA NM_017775 NP_060245 Q6DKK2 TTC19_HUMAN tetratricopeptide repeat domain 19 Error:Variant_position_missing_in_Q6DKK2_after_alignment cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly centrosome|midbody|mitochondrial inner membrane protein binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGCCACACACGACCTCGGTCC 0.731 FLII 2314 broad.mit.edu 37 17 18154278 18154278 + Silent SNP G G A rs144125005 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:18154278G>A uc002gsr.1 - 14 1701 c.1650C>T c.(1648-1650)GGC>GGT p.G550G FLII_uc002gsq.1_Silent_p.G421G|FLII_uc010cpy.1_Silent_p.G539G|FLII_uc010vxn.1_Silent_p.G519G|FLII_uc010vxo.1_Silent_p.G495G|FLII_uc002gss.1_Silent_p.G549G NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 550 Interaction with ACTL6A.|Gelsolin-like 1. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) TGGCCTCCCCGCCAATCCAGT 0.587 FLII 2314 broad.mit.edu 37 17 18154776 18154776 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:18154776G>C uc002gsr.1 - 13 1450 c.1399C>G c.(1399-1401)CGG>GGG p.R467G FLII_uc002gsq.1_Missense_Mutation_p.R338G|FLII_uc010cpy.1_Missense_Mutation_p.R456G|FLII_uc010vxn.1_Missense_Mutation_p.R436G|FLII_uc010vxo.1_Missense_Mutation_p.R412G|FLII_uc002gss.1_Missense_Mutation_p.R466G NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 467 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) CTGGGGGCCCGGGCATCTGCG 0.607 SOCS7 30837 broad.mit.edu 37 17 36522218 36522218 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:36522218G>A uc002hqa.2 + 5 1232 c.1109G>A c.(1108-1110)AGC>AAC p.S370N SOCS7_uc010cvl.2_Missense_Mutation_p.S336N|SOCS7_uc002hqb.2_RNA NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 370 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) TCCCTGCACAGCCAACCCCCA 0.582 FKBP10 60681 broad.mit.edu 37 17 39974510 39974510 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:39974510C>T uc002hxv.2 + 3 886 c.561C>T c.(559-561)GAC>GAT p.D187D FKBP10_uc002hxw.1_5'Flank NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 187 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CCCTGCTGGACGGCACCTCCT 0.682 STAT3 6774 broad.mit.edu 37 17 40474420 40474420 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:40474420C>A uc002hzl.1 - 21 2221 c.1981G>T c.(1981-1983)GAT>TAT p.D661Y STAT3_uc002hzk.1_Missense_Mutation_p.D661Y|STAT3_uc002hzm.1_Missense_Mutation_p.D661Y|STAT3_uc010wgh.1_Missense_Mutation_p.D563Y|STAT3_uc002hzn.1_Missense_Mutation_p.D661Y NM_139276 NP_644805 P40763 STAT3_HUMAN signal transducer and activator of transcription 661 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTGGTAGCATCCATGATCTTA 0.483 Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome MPP2 4355 broad.mit.edu 37 17 41955297 41955297 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:41955297C>T uc010wip.1 - 13 1729 c.1672G>A c.(1672-1674)GGG>AGG p.G558R MPP2_uc002ien.1_Missense_Mutation_p.G530R|MPP2_uc010wim.1_Missense_Mutation_p.G502R|MPP2_uc002ieo.1_Missense_Mutation_p.G513R|MPP2_uc010win.1_Missense_Mutation_p.G374R|MPP2_uc010wio.1_Missense_Mutation_p.G502R NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 537 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) AAGTAGTGCCCGTAGCCCCGC 0.627 FMNL1 752 broad.mit.edu 37 17 43322382 43322382 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:43322382C>T uc002iin.2 + 21 2835 c.2635C>T c.(2635-2637)CTG>TTG p.L879L FMNL1_uc002iiq.2_Silent_p.L457L|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 879 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 CAAGCAGACGCTGCTGCACTA 0.592 GOSR2 9570 broad.mit.edu 37 17 45016026 45016026 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:45016026G>A uc002ila.2 + 6 612 c.539G>A c.(538-540)CGG>CAG p.R180Q GOSR2_uc010wkh.1_Missense_Mutation_p.R180Q|GOSR2_uc002ikz.2_Missense_Mutation_p.R180Q NM_004287 NP_004278 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 isoform A 180 Cytoplasmic (Potential). cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(9;0.102) ACAGTGATGCGGCTCATCGAG 0.493 KPNB1 3837 broad.mit.edu 37 17 45754442 45754442 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:45754442C>A uc002ilt.1 + 17 2388 c.2052C>A c.(2050-2052)AAC>AAA p.N684K KPNB1_uc010wkw.1_Missense_Mutation_p.N539K|KPNB1_uc010wkx.1_Missense_Mutation_p.N468K NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 684 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TGCAATCCAACATCATACCTT 0.448 SNX11 29916 broad.mit.edu 37 17 46189428 46189428 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:46189428C>T uc002inf.1 + 3 377 c.23C>T c.(22-24)TCG>TTG p.S8L SNX11_uc010wlg.1_5'UTR|SNX11_uc010wlh.1_5'UTR|SNX11_uc010wli.1_5'UTR|SNX11_uc010wlj.1_Intron|SNX11_uc002ing.1_Missense_Mutation_p.S8L|SNX11_uc002inh.1_Missense_Mutation_p.S8L NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 8 cell communication|protein transport membrane phosphatidylinositol binding 0 TGTAGGATGTCGGAGAACCAA 0.448 HOXB3 3213 broad.mit.edu 37 17 46628177 46628177 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:46628177G>A uc002inn.2 - 2 1215 c.815C>T c.(814-816)ACG>ATG p.T272M HOXB3_uc010wlm.1_Missense_Mutation_p.T199M|HOXB3_uc010dbf.2_Missense_Mutation_p.T272M|HOXB3_uc010dbg.2_Missense_Mutation_p.T272M|HOXB3_uc002ino.2_Missense_Mutation_p.T272M|HOXB3_uc010wlk.1_Missense_Mutation_p.T140M|HOXB3_uc010wll.1_Missense_Mutation_p.T199M NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 272 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GAAGCCGGCCGTGGACTGCAT 0.662 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BCAS3 54828 broad.mit.edu 37 17 58980003 58980003 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:58980003G>A uc002iyv.3 + 11 870 c.761G>A c.(760-762)CGT>CAT p.R254H BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.R254H|BCAS3_uc002iyw.3_Missense_Mutation_p.R250H|BCAS3_uc002iyx.1_Missense_Mutation_p.R69H|BCAS3_uc002iyy.3_Missense_Mutation_p.R25H NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 254 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) CATCAGTCCCGTGGTGGAGCC 0.433 MARCH10 162333 broad.mit.edu 37 17 60837269 60837269 + Silent SNP T T C rs146472679 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:60837269T>C uc010ddr.2 - 4 547 c.309A>G c.(307-309)TCA>TCG p.S103S MARCH10_uc002jag.3_Silent_p.S103S|MARCH10_uc010dds.2_Silent_p.S103S|MARCH10_uc002jah.2_Silent_p.S103S NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 103 ligase activity|zinc ion binding 0 TCTGCTTGACTGATGTTTGGT 0.433 FTSJ3 117246 broad.mit.edu 37 17 61901290 61901290 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:61901290C>T uc002jbz.2 - 12 1255 c.1177G>A c.(1177-1179)GAG>AAG p.E393K FTSJ3_uc002jca.2_Missense_Mutation_p.E393K NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 393 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TTTCTCTGCTCACGCAACAGC 0.532 ICAM2 3384 broad.mit.edu 37 17 62081214 62081214 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:62081214G>T uc002jdu.3 - 3 671 c.439C>A c.(439-441)CTC>ATC p.L147I C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.L147I|ICAM2_uc010ded.2_Missense_Mutation_p.L147I|ICAM2_uc002jdx.3_Missense_Mutation_p.L147I|ICAM2_uc002jdv.3_Missense_Mutation_p.L147I NM_000873 NP_000864 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 precursor 147 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding ovary(1) 1 AACAGGAAGAGGGTGAGGCTG 0.607 ERN1 2081 broad.mit.edu 37 17 62137923 62137923 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:62137923G>A uc002jdz.2 - 11 1225 c.1112C>T c.(1111-1113)GCG>GTG p.A371V NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 371 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 CTTGGTAGACGCAGACAGTGG 0.448 KPNA2 3838 broad.mit.edu 37 17 66040114 66040114 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:66040114C>T uc002jgk.2 + 8 1223 c.1091C>T c.(1090-1092)GCC>GTC p.A364V KPNA2_uc002jgl.2_Missense_Mutation_p.A364V NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 364 ARM 7.|NLS binding site (minor) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AACATCACAGCCGGCCGCCAG 0.478 SOX9 6662 broad.mit.edu 37 17 70120258 70120258 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:70120258C>T uc002jiw.2 + 3 1632 c.1260C>T c.(1258-1260)TAC>TAT p.Y420Y NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 420 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) AGATCGCCTACAGCCCCTTCA 0.637 TNRC6C 57690 broad.mit.edu 37 17 76045711 76045711 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:76045711A>G uc002jud.2 + 4 1168 c.568A>G c.(568-570)ATG>GTG p.M190V TNRC6C_uc002juf.2_Missense_Mutation_p.M190V|TNRC6C_uc002jue.2_Missense_Mutation_p.M190V NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 190 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CACTAACCCCATGAACTCTTC 0.502 USP36 57602 broad.mit.edu 37 17 76832231 76832231 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:76832231C>T uc002jvz.1 - 3 540 c.215G>A c.(214-216)CGC>CAC p.R72H USP36_uc002jwa.1_Missense_Mutation_p.R72H|USP36_uc002jwd.1_Missense_Mutation_p.R72H NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 72 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) ACTCTTGTGGCGACTAGCTCC 0.557 CCDC40 55036 broad.mit.edu 37 17 78069228 78069228 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:78069228G>A uc010dht.2 + 18 3026 c.2999G>A c.(2998-3000)CGG>CAG p.R1000Q CCDC40_uc002jxm.3_Missense_Mutation_p.R783Q|CCDC40_uc002jxn.3_Missense_Mutation_p.R396Q NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1000 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GAGCTGCGCCGGAAAATCAGG 0.622 CARD14 79092 broad.mit.edu 37 17 78157813 78157813 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:78157813C>T uc002jxw.1 + 4 646 c.451C>T c.(451-453)CGG>TGG p.R151W CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R151W|CARD14_uc010wud.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 151 Potential. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGTGCTGCTGCGGCGGTGCCA 0.667 CEP192 55125 broad.mit.edu 37 18 13049878 13049878 + Missense_Mutation SNP C C T rs142411472 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:13049878C>T uc010xac.1 + 17 3085 c.3005C>T c.(3004-3006)ACG>ATG p.T1002M CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.T527M|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Missense_Mutation_p.T743M NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1002 ovary(4)|pancreas(1) 5 ATTTCTGGAACGAGTTCATCA 0.403 DSG1 1828 broad.mit.edu 37 18 28913591 28913591 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:28913591C>T uc002kwp.2 + 7 936 c.724C>T c.(724-726)CGA>TGA p.R242* NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 242 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGGCTCTGACCGAGATGGCGG 0.428 SETBP1 26040 broad.mit.edu 37 18 42532846 42532846 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:42532846T>G uc010dni.2 + 4 3837 c.3541T>G c.(3541-3543)TTC>GTC p.F1181V NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1181 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGCCACAGGCTTCTCCAGCCA 0.522 Schinzel-Giedion_syndrome TCEB3B 51224 broad.mit.edu 37 18 44560283 44560283 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:44560283C>T uc002lcr.1 - 1 1706 c.1353G>A c.(1351-1353)CCG>CCA p.P451P KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 451 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCACCGTTTTCGGCCCGGCGG 0.602 GRP 2922 broad.mit.edu 37 18 56892843 56892843 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:56892843C>T uc002lhv.2 + 2 357 c.259C>T c.(259-261)CTC>TTC p.L87F GRP_uc002lhu.2_Missense_Mutation_p.L87F|GRP_uc002lhw.2_Missense_Mutation_p.L87F NM_002091 NP_002082 P07492 GRP_HUMAN gastrin-releasing peptide isoform 1 87 neuropeptide signaling pathway extracellular space neuropeptide hormone activity 0 Colorectal(73;0.0946) TTTGCTGGGTCTCATAGAAGC 0.527 CYB5A 1528 broad.mit.edu 37 18 71920841 71920841 + Missense_Mutation SNP C C T rs145656581 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:71920841C>T uc002lli.2 - 5 494 c.383G>A c.(382-384)CGC>CAC p.R128H CYB5A_uc002llh.2_3'UTR NM_148923 NP_683725 P00167 CYB5_HUMAN cytochrome b-5 isoform 1 128 Helical; (Potential). electron transport chain|water-soluble vitamin metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding 0 Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211) Methoxyflurane(DB01028) CATGTATAGGCGATACATCAA 0.502 MBP 4155 broad.mit.edu 37 18 74817183 74817183 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:74817183G>A uc010xfd.1 - 2 299 c.35C>T c.(34-36)GCC>GTC p.A12V MBP_uc002lmr.2_Missense_Mutation_p.A12V NM_001025101 NP_001020272 P02686 MBP_HUMAN Golli-mbp isoform 1 12 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath haematopoietic_and_lymphoid_tissue(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) GGCCTTCTCGGCATTTAATTC 0.468 SALL3 27164 broad.mit.edu 37 18 76753543 76753543 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:76753543G>A uc002lmt.2 + 2 1552 c.1552G>A c.(1552-1554)GTG>ATG p.V518M SALL3_uc010dra.2_Missense_Mutation_p.V125M NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAGCAAGCCCGTGCTGCCCAC 0.721 CTDP1 9150 broad.mit.edu 37 18 77475181 77475181 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:77475181A>C uc002lnh.1 + 8 1868 c.1721A>C c.(1720-1722)CAG>CCG p.Q574P CTDP1_uc002lni.1_Missense_Mutation_p.Q574P|CTDP1_uc010drd.1_Missense_Mutation_p.Q574P NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 574 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TCCCTGGACCAGAGCATggag 0.547 C19orf22 91300 broad.mit.edu 37 19 902078 902078 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:902078A>G uc002lqg.2 - 2 192 c.124T>C c.(124-126)TCG>CCG p.S42P C19orf22_uc002lqh.2_Intron|C19orf22_uc002lqi.2_Missense_Mutation_p.S42P|C19orf22_uc002lqj.2_5'UTR NM_138774 NP_620129 Q96D70 CS022_HUMAN hypothetical protein LOC91300 42 nucleus nucleic acid binding pancreas(1) 1 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGAAGCCGAGAGTCTCTTC 0.662 C19orf6 91304 broad.mit.edu 37 19 1010864 1010864 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:1010864C>T uc002lqr.1 - 11 1494 c.1348G>A c.(1348-1350)GAG>AAG p.E450K uc002lqp.1_5'Flank|C19orf6_uc002lqq.1_RNA|C19orf6_uc002lqs.1_3'UTR NM_001033026 NP_001028198 Q4ZIN3 MBRL_HUMAN membralin isoform 1 450 cytoplasm|integral to membrane pancreas(2)|breast(1) 3 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGCAGCTCGTAGTGGTGG 0.677 THOP1 7064 broad.mit.edu 37 19 2810725 2810725 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:2810725C>T uc002lwj.2 + 11 1885 c.1730C>T c.(1729-1731)GCG>GTG p.A577V THOP1_uc010xgz.1_Missense_Mutation_p.A456V|THOP1_uc002lwk.2_Missense_Mutation_p.A88V NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 577 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGAGTATGCGCGGCTCTGC 0.687 ZNF555 148254 broad.mit.edu 37 19 2852714 2852714 + Silent SNP G G A rs139480369 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:2852714G>A uc002lwo.2 + 4 740 c.651G>A c.(649-651)CGG>CGA p.R217R ZNF555_uc002lwn.3_Silent_p.R216R NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 217 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCAATCGGCATGTAAGGA 0.428 ZNF556 80032 broad.mit.edu 37 19 2877633 2877633 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:2877633C>T uc002lwp.1 + 4 764 c.677C>T c.(676-678)ACT>ATT p.T226I ZNF556_uc002lwq.2_Missense_Mutation_p.T225I NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACTCACACTGGAGAGAAA 0.502 GNA11 2767 broad.mit.edu 37 19 3113410 3113410 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:3113410T>C uc002lxd.2 + 3 646 c.404T>C c.(403-405)CTG>CCG p.L135P NM_002067 NP_002058 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), 135 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity eye(70)|skin(16) 86 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) ATCAAGACCCTGTGGGAGGAC 0.652 Mis uveal melanoma TICAM1 148022 broad.mit.edu 37 19 4818338 4818338 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:4818338C>T uc002mbi.2 - 2 303 c.52G>A c.(52-54)GCA>ACA p.A18T NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 18 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TCCTGGCCTGCTGCACCTAGA 0.607 PLIN3 10226 broad.mit.edu 37 19 4852210 4852210 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:4852210A>G uc002mbj.2 - 5 629 c.452T>C c.(451-453)GTG>GCG p.V151A PLIN3_uc002mbk.2_Missense_Mutation_p.V139A|PLIN3_uc002mbl.3_Missense_Mutation_p.V151A NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 151 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) GGTCGCGTCCACCGCCTCCGA 0.647 OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PSPN 5623 broad.mit.edu 37 19 6375771 6375771 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:6375771G>A uc010xja.1 - 1 90 c.90C>T c.(88-90)CCC>CCT p.P30P NM_004158 NP_004149 O60542 PSPN_HUMAN persephin precursor 30 axon guidance|central nervous system development growth factor activity skin(1) 1 CATCGGCCACGGGAACCCCAC 0.642 KIAA1543 57662 broad.mit.edu 37 19 7682705 7682705 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:7682705C>T uc002mgv.3 + 17 3613 c.3512C>T c.(3511-3513)GCG>GTG p.A1171V KIAA1543_uc002mgu.3_Missense_Mutation_p.A1198V|KIAA1543_uc002mgw.2_Missense_Mutation_p.A301V NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 1171 CKK. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CAGTTCCGGGCGCTCTACACG 0.617 XAB2 56949 broad.mit.edu 37 19 7693109 7693109 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:7693109C>T uc002mgx.2 - 2 153 c.127G>A c.(127-129)GAG>AAG p.E43K uc010dvi.1_5'Flank NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 43 HAT 1. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 TGTTTGAACTCGATGTAGCGA 0.592 Direct_reversal_of_damage|NER ZNF559 84527 broad.mit.edu 37 19 9452461 9452461 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:9452461A>G uc002mlg.2 + 7 981 c.334A>G c.(334-336)ACT>GCT p.T112A ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.T104A|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.T176A|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 112 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCACAGGAGAACTTACTTTAG 0.383 ZNF559 84527 broad.mit.edu 37 19 9452553 9452553 + Silent SNP C C T rs147973414 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:9452553C>T uc002mlg.2 + 7 1073 c.426C>T c.(424-426)ATC>ATT p.I142I ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.I134I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.I206I|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAACTGATATCGGAGAGGAAC 0.363 ZNF561 93134 broad.mit.edu 37 19 9721783 9721783 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:9721783G>A uc002mlu.2 - 6 759 c.554C>T c.(553-555)GCT>GTT p.A185V ZNF561_uc010dwu.2_Missense_Mutation_p.A116V|ZNF561_uc010xkr.1_Missense_Mutation_p.A49V NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 185 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGATGTACAGCAAGACCTGG 0.403 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221628 10221628 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:10221628C>T uc002mna.2 + 12 1209 c.1209C>T c.(1207-1209)TTC>TTT p.F403F PPAN-P2RY11_uc010xla.1_Silent_p.F403F|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.F403F|PPAN_uc002mnb.1_Silent_p.F350F NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 403 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CAGACCTGTTCCCCGAGGCCA 0.627 DNMT1 1786 broad.mit.edu 37 19 10277310 10277310 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:10277310G>A uc002mng.2 - 10 987 c.807C>T c.(805-807)GGC>GGT p.G269G DNMT1_uc010xlc.1_Silent_p.G285G|DNMT1_uc002mnh.2_Silent_p.G164G|DNMT1_uc010xld.1_Silent_p.G269G|DNMT1_uc002mnk.2_RNA NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 269 Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CAGCCTGCACGCCTGCCCTGG 0.567 MAN2B1 4125 broad.mit.edu 37 19 12759146 12759146 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:12759146G>A uc002mub.2 - 21 2583 c.2507C>T c.(2506-2508)GCG>GTG p.A836V MAN2B1_uc010dyv.1_Missense_Mutation_p.A835V NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 836 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 TCGCACCCACGCCCCCGACCC 0.701 RFX1 5989 broad.mit.edu 37 19 14074062 14074062 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:14074062G>A uc002mxv.2 - 19 2868 c.2596C>T c.(2596-2598)CTG>TTG p.L866L NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 866 Necessary for dimerization. immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GCGCTGCGCAGGGTCAGGTCC 0.677 CYP4F8 11283 broad.mit.edu 37 19 15726481 15726481 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:15726481G>A uc002nbi.2 + 2 118 c.54G>A c.(52-54)CCG>CCA p.P18P CYP4F8_uc010xoi.1_Silent_p.P18P|CYP4F8_uc010xoj.1_Translation_Start_Site NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 18 Helical; (Potential). prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 CAGCATCCCCGTGGCTGCTCC 0.672 ANKLE1 126549 broad.mit.edu 37 19 17394228 17394228 + Missense_Mutation SNP G G A rs10415287 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:17394228G>A uc002nga.2 + 5 931 c.655G>A c.(655-657)GCC>ACC p.A219T ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.A241T|ANKLE1_uc010xpn.1_Missense_Mutation_p.A273T|ANKLE1_uc002nfy.2_Missense_Mutation_p.A208T|ANKLE1_uc002nfz.2_5'UTR NM_152363 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat domain 41 219 nuclear envelope 0 CAGCTCAGACGCCTCTTTCGT 0.637 KIAA1683 80726 broad.mit.edu 37 19 18376152 18376152 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:18376152G>A uc002nin.2 - 3 2414 c.2198C>T c.(2197-2199)GCG>GTG p.A733V KIAA1683_uc010ebn.2_Missense_Mutation_p.A733V|KIAA1683_uc010xqe.1_Missense_Mutation_p.A687V NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 733 mitochondrion ovary(2) 2 GGCTAGAGGCGCTTGGGACTG 0.612 SFRS14 10147 broad.mit.edu 37 19 19115185 19115185 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:19115185G>A uc002nkx.2 - 7 2867 c.2721C>T c.(2719-2721)CCC>CCT p.P907P SFRS14_uc002nkz.1_Silent_p.P921P|SFRS14_uc002nla.1_Silent_p.P907P|SFRS14_uc002nlb.2_Silent_p.P907P|SFRS14_uc010xqk.1_Silent_p.P676P NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 907 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CTCCAGGAGCGGGGGcctcct 0.567 ARMC6 93436 broad.mit.edu 37 19 19166101 19166101 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:19166101C>A uc002nld.2 + 7 1399 c.1051C>A c.(1051-1053)CTG>ATG p.L351M ARMC6_uc002nlc.2_Missense_Mutation_p.L326M|ARMC6_uc010xql.1_Missense_Mutation_p.L258M|ARMC6_uc002nle.2_Missense_Mutation_p.L326M|ARMC6_uc010xqm.1_Missense_Mutation_p.L351M NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 351 ARM 3. protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GCTGAGCACCCTGCGAGCCAT 0.617 RBM42 79171 broad.mit.edu 37 19 36124838 36124838 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:36124838C>T uc002oan.2 + 7 1010 c.934C>T c.(934-936)CTG>TTG p.L312L RBM42_uc010eef.2_Silent_p.L258L|RBM42_uc002oao.2_Silent_p.L290L|RBM42_uc002oap.2_Silent_p.L282L|RBM42_uc002oaq.2_Silent_p.L283L|RBM42_uc010eeg.2_Silent_p.L283L NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 312 Necessary for interaction with HNRNPK (By similarity).|Pro-rich. cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGCCCCCGCTGCGCATTCC 0.711 ZNF345 25850 broad.mit.edu 37 19 37368416 37368416 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:37368416A>C uc002oex.2 + 3 1062 c.684A>C c.(682-684)AAA>AAC p.K228N ZNF345_uc002oey.3_Missense_Mutation_p.K228N|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 228 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGGTGAGAAACCTTATGAAT 0.423 ZNF345 25850 broad.mit.edu 37 19 37368636 37368636 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:37368636A>G uc002oex.2 + 3 1282 c.904A>G c.(904-906)ACT>GCT p.T302A ZNF345_uc002oey.3_Missense_Mutation_p.T302A|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 302 C2H2-type 9. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCAGATCTCACTCAGCATCA 0.398 SAMD4B 55095 broad.mit.edu 37 19 39871247 39871247 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:39871247C>T uc002olb.2 + 13 2705 c.1670C>T c.(1669-1671)TCG>TTG p.S557L SAMD4B_uc002ola.2_Missense_Mutation_p.S557L NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 557 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GGCTCCAACTCGCTCCCCATA 0.627 PAF1 54623 broad.mit.edu 37 19 39879317 39879317 + Splice_Site SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:39879317C>T uc002old.2 - 10 916 c.741_splice c.e10-1 p.R247_splice PAF1_uc002ole.1_Splice_Site_p.R237_splice|PAF1_uc010xuv.1_Splice_Site|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CATCATGCCCCTGGTTGGGGG 0.542 LTBP4 8425 broad.mit.edu 37 19 41123127 41123127 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:41123127G>A uc002ooh.1 + 25 3268 c.3268G>A c.(3268-3270)GTG>ATG p.V1090M LTBP4_uc002oog.1_Missense_Mutation_p.V1053M|LTBP4_uc002ooi.1_Missense_Mutation_p.V1023M|LTBP4_uc002ooj.1_Translation_Start_Site|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_RNA|LTBP4_uc010xvp.1_Intron NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1090 Cys-rich.|EGF-like 12; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGTCACTGCGTGGGTACGGG 0.627 SNRPA 6626 broad.mit.edu 37 19 41268833 41268833 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:41268833C>T uc002ooz.2 + 4 989 c.454C>T c.(454-456)CGC>TGC p.R152C SNRPA_uc002opa.2_Missense_Mutation_p.R102C NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 152 Pro-rich. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAGGCGCCCCGCATTATGCA 0.657 ATP1A3 478 broad.mit.edu 37 19 42471440 42471440 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:42471440C>T uc002osg.2 - 22 3128 c.2974G>A c.(2974-2976)GAC>AAC p.D992N ATP1A3_uc010xwf.1_Missense_Mutation_p.D1003N|ATP1A3_uc010xwg.1_Missense_Mutation_p.D962N|ATP1A3_uc010xwh.1_Missense_Mutation_p.D1005N|ATP1A3_uc002osh.2_Missense_Mutation_p.D992N NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 992 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CGGATTTCGTCGTAGACGAAG 0.652 CIC 23152 broad.mit.edu 37 19 42795871 42795871 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:42795871C>T uc002otf.1 + 11 2900 c.2860C>T c.(2860-2862)CAG>TAG p.Q954* NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 954 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) AGTACCTGTGCAGAATGGTGC 0.607 T DUX4 soft tissue sarcoma KCNN4 3783 broad.mit.edu 37 19 44278410 44278410 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:44278410C>T uc002oxl.2 - 3 1013 c.617G>A c.(616-618)CGC>CAC p.R206H KCNN4_uc010eiz.2_Missense_Mutation_p.R119H|KCNN4_uc010eja.1_RNA NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 206 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GAGCAGCAGGCGGCCAGGGTG 0.642 OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF227 7770 broad.mit.edu 37 19 44738862 44738862 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:44738862G>T uc002oyu.2 + 6 484 c.279G>T c.(277-279)AAG>AAT p.K93N ZNF227_uc010xwu.1_Missense_Mutation_p.K42N|ZNF227_uc002oyv.2_Missense_Mutation_p.K93N|ZNF227_uc010xwv.1_Missense_Mutation_p.K42N|ZNF227_uc010xww.1_Missense_Mutation_p.K14N|ZNF227_uc002oyw.2_Missense_Mutation_p.K65N|ZNF227_uc010ejh.2_Missense_Mutation_p.K86N|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) TAGGCAGCAAGCATCAAAATA 0.358 PPP1R13L 10848 broad.mit.edu 37 19 45885875 45885875 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:45885875G>A uc002pbn.2 - 12 2435 c.2358C>T c.(2356-2358)ACC>ACT p.T786T PPP1R13L_uc002pbm.2_Silent_p.T365T|PPP1R13L_uc002pbo.2_Silent_p.T786T NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 786 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCCGCAGCACGGTGACCGACT 0.687 HIF3A 64344 broad.mit.edu 37 19 46815457 46815457 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:46815457C>A uc002peh.2 + 7 839 c.810C>A c.(808-810)ATC>ATA p.I270I HIF3A_uc002pef.1_Silent_p.I270I|HIF3A_uc002peg.3_Silent_p.I270I|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.I214I|HIF3A_uc002pej.1_Silent_p.I201I|HIF3A_uc002pek.2_Silent_p.I214I|HIF3A_uc010xxy.1_Silent_p.I201I|HIF3A_uc002pel.2_Silent_p.I268I|HIF3A_uc010xxz.1_Silent_p.I219I NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 270 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ATGACCTGATCGGCTGTTCCG 0.597 PRR12 57479 broad.mit.edu 37 19 50102838 50102838 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:50102838C>T uc002poo.3 + 5 3988 c.3988C>T c.(3988-3990)CCT>TCT p.P1330S NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 509 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCTGCCACCCCTGCTGTGCC 0.701 MYH14 79784 broad.mit.edu 37 19 50785086 50785086 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:50785086G>A uc002prr.1 + 31 4450 c.4403G>A c.(4402-4404)CGC>CAC p.R1468H MYH14_uc010enu.1_Missense_Mutation_p.R1509H|MYH14_uc002prq.1_Missense_Mutation_p.R1476H|MYH14_uc010ycb.1_Intron|MYH14_uc002prs.1_5'Flank NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1468 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) AAGAAGCAGCGCAAGTTTGAC 0.632 SHANK1 50944 broad.mit.edu 37 19 51219986 51219986 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:51219986A>G uc002psx.1 - 1 210 c.191T>C c.(190-192)GTC>GCC p.V64A NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 64 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GTCGTCTGGGACGGACATTGA 0.682 KLK13 26085 broad.mit.edu 37 19 51563198 51563198 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:51563198T>C uc002pvn.2 - 3 435 c.392A>G c.(391-393)CAG>CGG p.Q131R KLK13_uc002pvl.2_Intron|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_Intron|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Intron|KLK13_uc002pvq.2_Intron|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.Q131R NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 131 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GACCGGGGACTGCAGCTCCAG 0.612 ZNF808 388558 broad.mit.edu 37 19 53057635 53057635 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:53057635G>A uc010epq.1 + 5 1643 c.1466G>A c.(1465-1467)CGC>CAC p.R489H ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 489 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AATGAGTGTCGCAAGACCTTC 0.433 ZNF611 81856 broad.mit.edu 37 19 53209310 53209310 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:53209310T>C uc002pzz.2 - 7 1315 c.998A>G c.(997-999)GAT>GGT p.D333G ZNF611_uc010eqc.2_Missense_Mutation_p.D263G|ZNF611_uc010ydo.1_Missense_Mutation_p.D263G|ZNF611_uc010ydr.1_Missense_Mutation_p.D264G|ZNF611_uc010ydp.1_Missense_Mutation_p.D333G|ZNF611_uc010ydq.1_Missense_Mutation_p.D333G|ZNF611_uc002qaa.3_Missense_Mutation_p.D263G NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 333 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AATTGCCTTATCAATTAGAAG 0.363 NDUFA3 4696 broad.mit.edu 37 19 54609301 54609301 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:54609301C>T uc002qde.2 + 3 173 c.146C>T c.(145-147)ACG>ATG p.T49M NDUFA3_uc002qdf.2_RNA NM_004542 NP_004533 O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 49 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) AACAAGGCCACGCCCTACAAC 0.607 ZNF324 25799 broad.mit.edu 37 19 58982366 58982366 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:58982366C>T uc002qsw.1 + 4 601 c.507C>T c.(505-507)CCC>CCT p.P169P ZNF324_uc002qsx.1_5'UTR NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TTAGGCCTCCCGAGGGCGTCC 0.647 ZNF324 25799 broad.mit.edu 37 19 58983128 58983128 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:58983128G>A uc002qsw.1 + 4 1363 c.1269G>A c.(1267-1269)AAG>AAA p.K423K ZNF324_uc002qsx.1_Silent_p.K200K NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CAGGCGAGAAGCCCTTCGCCT 0.682 RAD51AP2 729475 broad.mit.edu 37 2 17697946 17697946 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:17697946T>C uc002rcl.1 - 1 1761 c.1737A>G c.(1735-1737)CTA>CTG p.L579L RAD51AP2_uc010exn.1_Silent_p.L570L NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 579 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TAGTTTTCAATAGAATATCTA 0.264 FKBP1B 2281 broad.mit.edu 37 2 24285969 24285969 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:24285969C>A uc002rer.2 + 4 370 c.234C>A c.(232-234)ACC>ACA p.T78T FKBP1B_uc002res.2_3'UTR|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA NM_004116 NP_004107 P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa isoform a 78 PPIase FKBP-type. 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACCTGCACCCCTGATGTGG 0.567 SLC5A6 8884 broad.mit.edu 37 2 27430423 27430423 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:27430423G>A uc002rjd.2 - 3 487 c.96C>T c.(94-96)TTC>TTT p.F32F SLC5A6_uc010eyv.1_Silent_p.F32F|SLC5A6_uc002rje.1_Silent_p.F32F NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 32 Helical; (Potential). biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GCAGCAGGACGAACACCACAT 0.572 SNX17 9784 broad.mit.edu 37 2 27598769 27598769 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:27598769C>T uc002rkg.1 + 11 1257 c.1035C>T c.(1033-1035)CGC>CGT p.R345R SNX17_uc010ylj.1_Silent_p.R325R|SNX17_uc010ylk.1_Silent_p.R131R|SNX17_uc010eza.1_Silent_p.R131R|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Silent_p.R131R|SNX17_uc010yll.1_Silent_p.R131R|SNX17_uc010ylm.1_Silent_p.R131R|SNX17_uc010yln.1_Silent_p.R333R|SNX17_uc010ylo.1_Silent_p.R263R|SNX17_uc010ylp.1_Silent_p.R320R|SNX17_uc010ylq.1_Silent_p.R131R NM_014748 NP_055563 Q15036 SNX17_HUMAN sorting nexin 17 345 cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAGGTGCGCCTGGAACTGG 0.607 C2orf16 84226 broad.mit.edu 37 2 27803556 27803556 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:27803556C>T uc002rkz.3 + 1 4168 c.4117C>T c.(4117-4119)CGG>TGG p.R1373W ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1373 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TTCTGTTGGGCGGAAGCCTGT 0.458 ATL2 64225 broad.mit.edu 37 2 38570579 38570579 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:38570579A>G uc002rqq.2 - 2 224 c.194T>C c.(193-195)CTT>CCT p.L65P ATL2_uc010ynm.1_Missense_Mutation_p.L47P|ATL2_uc010ynn.1_Missense_Mutation_p.L47P|ATL2_uc010yno.1_Intron|ATL2_uc002rqs.2_Missense_Mutation_p.L65P|ATL2_uc002rqr.2_Intron NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 65 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 TTCATGAGCAAGAACAATCTG 0.358 PRKCE 5581 broad.mit.edu 37 2 46203609 46203609 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:46203609C>T uc002rut.2 + 3 651 c.454C>T c.(454-456)CGG>TGG p.R152W NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 152 activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) GGAACGCATGCGGCCGAGGAA 0.587 SPTBN1 6711 broad.mit.edu 37 2 54873365 54873365 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:54873365G>A uc002rxu.2 + 23 4868 c.4619G>A c.(4618-4620)CGC>CAC p.R1540H SPTBN1_uc002rxx.2_Missense_Mutation_p.R1527H NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1540 Spectrin 12. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CACCAGCCTCGCATTGACGAC 0.552 SPTBN1 6711 broad.mit.edu 37 2 54880747 54880747 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:54880747T>G uc002rxu.2 + 27 5828 c.5579T>G c.(5578-5580)GTG>GGG p.V1860G SPTBN1_uc002rxx.2_Missense_Mutation_p.V1847G|SPTBN1_uc002rxy.2_Missense_Mutation_p.V5G NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1860 Interaction with ANK2.|Spectrin 15. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GCTTCACAGGTGAGGCAGCTG 0.612 OTX1 5013 broad.mit.edu 37 2 63280040 63280040 + Translation_Start_Site SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:63280040C>A uc002scd.2 + 3 163 c.-85C>A c.(-87--83)CCCTG>CCATG OTX1_uc010ypt.1_Translation_Start_Site NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) GCATCAGACCCTGAAGGACTG 0.642 SLC1A4 6509 broad.mit.edu 37 2 65243635 65243635 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:65243635A>G uc010yqa.1 + 5 1184 c.862A>G c.(862-864)ATC>GTC p.I288V SLC1A4_uc010ypy.1_Missense_Mutation_p.I68V|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.I288V|SLC1A4_uc002sdh.2_Missense_Mutation_p.I68V NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 288 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) GAAAGACATCATCGTGCTGGT 0.453 SPRED2 200734 broad.mit.edu 37 2 65540704 65540704 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:65540704G>A uc002sdr.3 - 6 1723 c.1188C>T c.(1186-1188)CCC>CCT p.P396P SPRED2_uc010fcw.2_Silent_p.P393P NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 396 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 AGGCCCGAAGGGGCAGGTAAC 0.597 DYSF 8291 broad.mit.edu 37 2 71825835 71825835 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:71825835C>T uc002sie.2 + 33 4038 c.3662C>T c.(3661-3663)CCG>CTG p.P1221L DYSF_uc010feg.2_Missense_Mutation_p.P1252L|DYSF_uc010feh.2_Missense_Mutation_p.P1207L|DYSF_uc002sig.3_Missense_Mutation_p.P1207L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1221L|DYSF_uc010fef.2_Missense_Mutation_p.P1238L|DYSF_uc010fei.2_Missense_Mutation_p.P1238L|DYSF_uc010fek.2_Missense_Mutation_p.P1239L|DYSF_uc010fej.2_Missense_Mutation_p.P1208L|DYSF_uc010fel.2_Missense_Mutation_p.P1208L|DYSF_uc010feo.2_Missense_Mutation_p.P1253L|DYSF_uc010fem.2_Missense_Mutation_p.P1222L|DYSF_uc010fen.2_Missense_Mutation_p.P1239L|DYSF_uc002sif.2_Missense_Mutation_p.P1222L|DYSF_uc010yqy.1_Missense_Mutation_p.P102L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1221 Cytoplasmic (Potential).|C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GCTGAGCAACCGCCCAGCATT 0.587 EXOC6B 23233 broad.mit.edu 37 2 72562106 72562106 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:72562106C>T uc010fep.2 - 20 2304 c.2166G>A c.(2164-2166)ACG>ACA p.T722T NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 722 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 CCAACTGCAGCGTGTCCTCCT 0.453 SLC4A5 57835 broad.mit.edu 37 2 74513013 74513013 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:74513013C>T uc002sko.1 - 3 290 c.288G>A c.(286-288)GAG>GAA p.E96E SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Silent_p.E96E|SLC4A5_uc010ffc.1_Silent_p.E96E|SLC4A5_uc002skp.1_Silent_p.E32E|SLC4A5_uc002sks.1_Silent_p.E96E NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 96 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CCTGGAGCTGCTCAGCAGCTG 0.582 CTNNA2 1496 broad.mit.edu 37 2 80646695 80646695 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:80646695T>C uc010ysh.1 + 8 1264 c.1259T>C c.(1258-1260)GTT>GCT p.V420A CTNNA2_uc010yse.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysf.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysg.1_Missense_Mutation_p.V420A|CTNNA2_uc010ysi.1_Missense_Mutation_p.V52A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 420 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TATGCCCAAGTTTTCCGTGAG 0.443 CTNNA2 1496 broad.mit.edu 37 2 80835350 80835350 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:80835350T>G uc010ysh.1 + 16 2342 c.2337T>G c.(2335-2337)CTT>CTG p.L779L CTNNA2_uc010yse.1_Silent_p.L779L|CTNNA2_uc010ysf.1_Silent_p.L779L|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Silent_p.L411L|CTNNA2_uc010ysj.1_Silent_p.L108L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 779 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TAGCCTACCTTCAACGAATTG 0.403 KRCC1 51315 broad.mit.edu 37 2 88327464 88327464 + Missense_Mutation SNP C C T rs116606730 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:88327464C>T uc002sso.1 - 4 1013 c.619G>A c.(619-621)GTA>ATA p.V207I KRCC1_uc002ssp.1_Missense_Mutation_p.V207I NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 207 Lys-rich.|Potential. ovary(1) 1 CTGACATGTACGGTTTCTATT 0.383 SEMA4C 54910 broad.mit.edu 37 2 97526833 97526833 + Missense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:97526833C>G uc002sxh.3 - 15 2192 c.2032G>C c.(2032-2034)GTG>CTG p.V678L SEMA4C_uc002sxf.3_Missense_Mutation_p.V178L|SEMA4C_uc002sxe.2_Missense_Mutation_p.V219L|SEMA4C_uc002sxg.3_Missense_Mutation_p.V731L NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 678 Helical; (Potential). 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 AGCAGCAGCACCAGGCACACA 0.687 ZAP70 7535 broad.mit.edu 37 2 98351851 98351851 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:98351851C>T uc002syd.1 + 10 1428 c.1221C>T c.(1219-1221)GCC>GCT p.A407A ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.A297A|ZAP70_uc002syf.1_Silent_p.A100A NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 407 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 TCTGCCAGGCCGAGGCCCTCA 0.662 TMEM131 23505 broad.mit.edu 37 2 98392382 98392382 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:98392382T>C uc002syh.3 - 32 4473 c.4244A>G c.(4243-4245)GAC>GGC p.D1415G NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1415 Lys-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 AGCCAAAGAGTCCTTCAGCTC 0.512 REV1 51455 broad.mit.edu 37 2 100022484 100022484 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:100022484G>A uc002tad.2 - 17 2911 c.2699C>T c.(2698-2700)ACC>ATC p.T900I REV1_uc002tac.2_Missense_Mutation_p.T899I NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 900 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 ATCAGGACTGGTCGGCAGATG 0.453 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage TGFBRAP1 9392 broad.mit.edu 37 2 105883890 105883890 + Missense_Mutation SNP C C T rs139792932 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:105883890C>T uc002tcq.2 - 12 2617 c.2533G>A c.(2533-2535)GCC>ACC p.A845T TGFBRAP1_uc010fjc.2_Missense_Mutation_p.A614T|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.A845T|uc002tcp.2_5'Flank NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 845 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TGTCTGCTGGCGGCACAGTGG 0.517 CCDC138 165055 broad.mit.edu 37 2 109411120 109411120 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:109411120T>C uc002ten.1 + 5 579 c.519T>C c.(517-519)CTT>CTC p.L173L CCDC138_uc002teo.1_Silent_p.L173L|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 173 0 GGAGTTTACTTCCACATCAGA 0.388 BUB1 699 broad.mit.edu 37 2 111408256 111408256 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:111408256C>A uc002tgc.2 - 18 2182 c.2070G>T c.(2068-2070)GAG>GAT p.E690D BUB1_uc010yxh.1_Missense_Mutation_p.E670D|BUB1_uc010fkb.2_Missense_Mutation_p.E690D NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 690 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CCAACTCTGCCTCACAGGTAA 0.527 IMP4 92856 broad.mit.edu 37 2 131102231 131102231 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:131102231C>T uc002tra.1 + 3 159 c.142C>T c.(142-144)CGA>TGA p.R48* CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 48 Arg-rich. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) TGAGTTACGCCGAGAGGCTCT 0.552 FAM123C 205147 broad.mit.edu 37 2 131521723 131521723 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:131521723C>T uc002trw.2 + 2 2268 c.2078C>T c.(2077-2079)GCC>GTC p.A693V FAM123C_uc010fmv.2_Missense_Mutation_p.A693V|FAM123C_uc010fms.1_Missense_Mutation_p.A693V|FAM123C_uc010fmt.1_Missense_Mutation_p.A693V|FAM123C_uc010fmu.1_Missense_Mutation_p.A693V NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 693 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CAGCCCCCGGCCGCATGGCCT 0.652 THSD7B 80731 broad.mit.edu 37 2 138030222 138030222 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:138030222C>T uc002tva.1 + 10 2293 c.2293C>T c.(2293-2295)CCT>TCT p.P765S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.P655S NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TTCCTTGTGTCCTGTATATCG 0.383 KYNU 8942 broad.mit.edu 37 2 143742717 143742717 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:143742717G>A uc002tvl.2 + 9 924 c.794G>A c.(793-795)TGG>TAG p.W265* KYNU_uc002tvk.2_Nonsense_Mutation_p.W265*|KYNU_uc010fnm.2_Nonsense_Mutation_p.W265* NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 265 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTACATGACTGGGGAGTTGAT 0.378 ACVR2A 92 broad.mit.edu 37 2 148684747 148684747 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:148684747G>A uc002twg.2 + 12 1715 c.1446G>A c.(1444-1446)ATG>ATA p.M482I ACVR2A_uc010zbn.1_Missense_Mutation_p.M374I|ACVR2A_uc002twh.2_Missense_Mutation_p.M482I NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 482 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTACCCAGATGCAGAGACTAA 0.423 TNFAIP6 7130 broad.mit.edu 37 2 152235983 152235983 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:152235983A>C uc002txk.2 + 6 846 c.770A>C c.(769-771)AAA>ACA p.K257T NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 257 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) AGTCAAGGAAAAAATACAAGT 0.338 GALNT13 114805 broad.mit.edu 37 2 155099258 155099258 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:155099258C>T uc002tyr.3 + 6 1093 c.526C>T c.(526-528)CCA>TCA p.P176S GALNT13_uc002tyt.3_Missense_Mutation_p.P176S|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 176 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TTTAGAAGTGCCAGTAAAAAT 0.343 SCN2A 6326 broad.mit.edu 37 2 166166916 166166916 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:166166916G>A uc002udc.2 + 7 1071 c.781G>A c.(781-783)GTG>ATG p.V261M SCN2A_uc002udd.2_Missense_Mutation_p.V261M|SCN2A_uc002ude.2_Missense_Mutation_p.V261M NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 261 I.|Helical; Name=S5 of repeat I; (Potential). V -> M (in BFIC3). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CTGTCTAAGCGTGTTTGCGCT 0.418 XIRP2 129446 broad.mit.edu 37 2 167992440 167992440 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:167992440T>G uc002udx.2 + 2 448 c.430T>G c.(430-432)TTG>GTG p.L144V XIRP2_uc010fpn.2_Missense_Mutation_p.L144V|XIRP2_uc010fpo.2_Missense_Mutation_p.L144V|XIRP2_uc010fpp.2_Missense_Mutation_p.L144V|XIRP2_uc002udy.2_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGAGCGAAGTTTGTGCTCGCC 0.428 XIRP2 129446 broad.mit.edu 37 2 168102105 168102105 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:168102105A>C uc002udx.2 + 8 4221 c.4203A>C c.(4201-4203)GAA>GAC p.E1401D XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1226D|XIRP2_uc010fpq.2_Missense_Mutation_p.E1179D|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1226 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGATTTCTGAAGAATCACATA 0.338 SP5 389058 broad.mit.edu 37 2 171572954 171572954 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:171572954G>A uc002uge.2 + 2 403 c.237G>A c.(235-237)GCG>GCA p.A79A LOC440925_uc002ugd.2_5'Flank NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACATGCCGGCGCACTCGCCAG 0.647 HOXD12 3238 broad.mit.edu 37 2 176965452 176965452 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:176965452C>T uc010zev.1 + 2 777 c.777C>T c.(775-777)CGC>CGT p.R259R HOXD12_uc010zew.1_3'UTR NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 259 Homeobox. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) AGAAGAAGCGCGTGGTGCTTC 0.582 TTN 7273 broad.mit.edu 37 2 179427391 179427391 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:179427391G>T uc010zfg.1 - 275 75988 c.75764C>A c.(75763-75765)ACT>AAT p.T25255N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18950N|TTN_uc010zfi.1_Missense_Mutation_p.T18883N|TTN_uc010zfj.1_Missense_Mutation_p.T18758N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26182 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGAAAGTAGTTTTAGTGCA 0.363 TTN 7273 broad.mit.edu 37 2 179584282 179584282 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:179584282A>G uc010zfg.1 - 79 20429 c.20205T>C c.(20203-20205)TCT>TCC p.S6735S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3396S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7662 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTACTCACCAGAAACATGGA 0.393 NCKAP1 10787 broad.mit.edu 37 2 183792931 183792931 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:183792931A>G uc002upc.2 - 29 3496 c.3094T>C c.(3094-3096)TTG>CTG p.L1032L NCKAP1_uc002upb.2_Silent_p.L1038L NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 1032 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GCTTTGGCCAAGCAATGTATG 0.378 ZNF804A 91752 broad.mit.edu 37 2 185802457 185802457 + Silent SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:185802457T>A uc002uph.2 + 4 2928 c.2334T>A c.(2332-2334)TCT>TCA p.S778S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 778 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ATTCACATTCTTATTCTTCAG 0.358 C2orf60 129450 broad.mit.edu 37 2 200800752 200800752 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:200800752A>G uc002uvi.3 - 7 859 c.593T>C c.(592-594)CTG>CCG p.L198P C2orf60_uc002uvj.3_Missense_Mutation_p.L35P|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.L35P NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN hypothetical protein LOC129450 198 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding 0 ATCTATATTCAGTACTTCTGA 0.303 BZW1 9689 broad.mit.edu 37 2 201681935 201681935 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:201681935G>A uc010zhg.1 + 6 657 c.605G>A c.(604-606)AGC>AAC p.S202N BZW1_uc002uwc.2_Missense_Mutation_p.S170N|BZW1_uc010zhh.1_Missense_Mutation_p.S170N NM_014670 NP_055485 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding 0 ATTCTTAATAGCCTTTATAAT 0.398 ORC2L 4999 broad.mit.edu 37 2 201784950 201784950 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:201784950A>G uc002uwr.2 - 15 1718 c.1461T>C c.(1459-1461)AAT>AAC p.N487N ORC2L_uc010zhj.1_Silent_p.N487N NM_006190 NP_006181 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 487 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 CTTACCTTGCATTAGGGGTAA 0.378 CDK15 65061 broad.mit.edu 37 2 202712142 202712142 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:202712142A>G uc002uyt.2 + 9 939 c.890A>G c.(889-891)CAA>CGA p.Q297R CDK15_uc010ftm.2_Missense_Mutation_p.Q162R|CDK15_uc002uys.2_Missense_Mutation_p.Q246R|CDK15_uc010ftn.1_Missense_Mutation_p.Q246R|CDK15_uc010fto.1_Missense_Mutation_p.Q276R NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 297 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) TTCCAGGGTCAACCTTTGTTT 0.373 BMPR2 659 broad.mit.edu 37 2 203242245 203242245 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:203242245G>A uc002uzf.3 + 1 1196 c.48G>A c.(46-48)TGG>TGA p.W16* BMPR2_uc010ftr.2_Nonsense_Mutation_p.W16*|BMPR2_uc002uze.2_Nonsense_Mutation_p.W16* NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 16 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 GGCTACCATGGACCATCCTGC 0.662 BMPR2 659 broad.mit.edu 37 2 203407105 203407105 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:203407105C>T uc002uzf.3 + 10 2496 c.1348C>T c.(1348-1350)CAG>TAG p.Q450* BMPR2_uc010ftr.2_Nonsense_Mutation_p.Q450* NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 450 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 TGAGGATATGCAGGTTCTCGT 0.423 INO80D 54891 broad.mit.edu 37 2 206869417 206869417 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:206869417G>A uc002vaz.3 - 11 3164 c.2759C>T c.(2758-2760)ACG>ATG p.T920M NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGTGGGTGGCGTGGATAGGGA 0.577 CRYGC 1420 broad.mit.edu 37 2 208994242 208994242 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:208994242G>A uc002vco.3 - 2 213 c.175C>T c.(175-177)CGG>TGG p.R59W NM_020989 NP_066269 P07315 CRGC_HUMAN crystallin, gamma C 59 Beta/gamma crystallin 'Greek key' 2. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TCCCCTCGCCGCAGCAAGTAT 0.567 ZNF142 7701 broad.mit.edu 37 2 219507069 219507069 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:219507069C>T uc002vin.2 - 8 4606 c.4170G>A c.(4168-4170)CGG>CGA p.R1390R ZNF142_uc002vil.2_Silent_p.R1351R|ZNF142_uc010fvt.2_Silent_p.R1227R|ZNF142_uc002vim.2_Silent_p.R1227R NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1390 C2H2-type 23. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCACCCGCTCCCGGGCAGCAA 0.652 CCDC108 255101 broad.mit.edu 37 2 219892428 219892428 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:219892428G>A uc002vjl.1 - 13 2239 c.2155C>T c.(2155-2157)CCG>TCG p.P719S CCDC108_uc010fwa.1_Missense_Mutation_p.P162S|CCDC108_uc010zkp.1_Missense_Mutation_p.P708S|CCDC108_uc010zkq.1_Missense_Mutation_p.P654S NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 719 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGTGAGGCGGCTGGAAGTGC 0.612 COL4A3 1285 broad.mit.edu 37 2 228118042 228118042 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:228118042A>G uc002vom.1 + 12 838 c.676A>G c.(676-678)AAA>GAA p.K226E COL4A3_uc002von.1_Missense_Mutation_p.K226E|COL4A3_uc002voo.1_Missense_Mutation_p.K226E|COL4A3_uc002vop.1_Missense_Mutation_p.K226E|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 226 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GATAGGACATAAAGGAGAGCG 0.353 COL4A3 1285 broad.mit.edu 37 2 228141189 228141189 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:228141189A>G uc002vom.1 + 27 2178 c.2016A>G c.(2014-2016)CCA>CCG p.P672P COL4A3_uc002von.1_Silent_p.P672P|COL4A3_uc002voo.1_Silent_p.P672P|COL4A3_uc002vop.1_Silent_p.P672P|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 672 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCCAAGGTCCACCTGGTAAGT 0.517 SP100 6672 broad.mit.edu 37 2 231328834 231328834 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:231328834A>G uc002vqt.2 + 11 1251 c.1110A>G c.(1108-1110)GAA>GAG p.E370E SP100_uc002vqs.2_Silent_p.E370E|SP100_uc002vqu.1_Silent_p.E370E|SP100_uc002vqq.1_Silent_p.E370E|SP100_uc002vqr.1_Silent_p.E345E|SP100_uc010zmc.1_Silent_p.E345E|SP100_uc002vqv.1_Silent_p.E334E NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 370 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGGCCAAGAAGCCACTTGCT 0.428 B3GNT7 93010 broad.mit.edu 37 2 232263248 232263248 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:232263248G>A uc002vrs.2 + 2 998 c.818G>A c.(817-819)CGG>CAG p.R273Q NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 273 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) CAGCACGCTCGGCCCATTCGC 0.602 DIS3L2 129563 broad.mit.edu 37 2 233201245 233201245 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:233201245G>T uc010fxz.2 + 21 2839 c.2563G>T c.(2563-2565)GCC>TCC p.A855S DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 855 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CAAGTACAGCGCCATCCTGAA 0.642 NEU2 4759 broad.mit.edu 37 2 233898990 233898990 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:233898990G>A uc010zmn.1 + 2 366 c.366G>A c.(364-366)ACG>ACA p.T122T NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 122 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCAATGTGACGCGGCTGTGCC 0.632 IQCA1 79781 broad.mit.edu 37 2 237272542 237272542 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:237272542G>A uc002vvz.1 - 15 1932 c.1750C>T c.(1750-1752)CTG>TTG p.L584L IQCA1_uc002vwb.2_Silent_p.L592L|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.L543L NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 584 ATP binding ovary(1) 1 GCATGGACCAGCATTTTCTTC 0.502 TMC2 117532 broad.mit.edu 37 20 2621797 2621797 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:2621797G>A uc002wgf.1 + 20 2536 c.2521G>A c.(2521-2523)GCC>ACC p.A841T TMC2_uc002wgg.1_Missense_Mutation_p.A825T NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 841 Cytoplasmic (Potential). integral to membrane ovary(3) 3 TCCTCCCTCTGCCAGCCAAAG 0.567 SLC4A11 83959 broad.mit.edu 37 20 3210181 3210181 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:3210181T>C uc002wig.2 - 13 1827 c.1779A>G c.(1777-1779)CAA>CAG p.Q593Q SLC4A11_uc010zqe.1_Silent_p.Q620Q|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.Q577Q NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 593 Membrane (bicarbonate transporter).|Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 TCTTCTTGAATTGGTAGAGGG 0.662 TASP1 55617 broad.mit.edu 37 20 13539704 13539704 + Missense_Mutation SNP A A G rs112168352 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:13539704A>G uc002woi.2 - 8 743 c.626T>C c.(625-627)GTG>GCG p.V209A TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.V186A|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 209 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 ATCTGTGTCCACCCTTTCTGC 0.279 CEP250 11190 broad.mit.edu 37 20 34057798 34057798 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:34057798C>T uc002xcm.2 + 11 1606 c.935C>T c.(934-936)ACA>ATA p.T312I CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.T119I NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 312 Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTGAGAGAGACAGTGGAGATC 0.463 SAMHD1 25939 broad.mit.edu 37 20 35539626 35539626 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:35539626A>G uc002xgh.1 - 11 1395 c.1265T>C c.(1264-1266)CTG>CCG p.L422P NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 422 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) CTTACCTGTCAGCTTAGTATA 0.373 KCNS1 3787 broad.mit.edu 37 20 43726532 43726532 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:43726532G>A uc002xnc.2 - 4 1278 c.881C>T c.(880-882)GCG>GTG p.A294V KCNS1_uc002xnd.2_Missense_Mutation_p.A294V NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 294 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) CGTACTGGGCGCCAGCAGGAG 0.647 ATP9A 10079 broad.mit.edu 37 20 50221365 50221365 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:50221365C>T uc002xwg.1 - 27 2998 c.2998G>A c.(2998-3000)GAG>AAG p.E1000K ATP9A_uc010gih.1_Missense_Mutation_p.E864K|ATP9A_uc002xwf.1_Missense_Mutation_p.E172K NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 1000 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CCGATGAACTCGTGTAAGAAC 0.597 ATP9A 10079 broad.mit.edu 37 20 50238695 50238695 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:50238695C>A uc002xwg.1 - 19 2033 c.2033G>T c.(2032-2034)GGG>GTG p.G678V ATP9A_uc010gih.1_Missense_Mutation_p.G542V|ATP9A_uc002xwf.1_Intron NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 678 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CAGCTTGTCCCCTGTCAGCAT 0.498 ZFP64 55734 broad.mit.edu 37 20 50769044 50769044 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:50769044C>T uc002xwl.2 - 6 2036 c.1687G>A c.(1687-1689)GCA>ACA p.A563T ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.A561T|ZFP64_uc002xwn.2_Missense_Mutation_p.A509T NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGGTCATTGCGCCCGCCTCG 0.682 GNAS 2778 broad.mit.edu 37 20 57428667 57428667 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:57428667C>A uc002xzw.2 + 1 632 c.347C>A c.(346-348)CCT>CAT p.P116H GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGCTTCTGGCCTACACTGGAG 0.632 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) TPTE 7179 broad.mit.edu 37 21 10996110 10996110 + RNA SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr21:10996110T>G uc002yis.1 - 12 c.2076A>C P56180 TPTE_HUMAN Homo sapiens putative tyrosine phosphatase mRNA, complete cds. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCAGTTCGACTTCTTTGCCGC 0.403 NCAM2 4685 broad.mit.edu 37 21 22910227 22910227 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr21:22910227T>C uc002yld.1 + 18 2712 c.2463T>C c.(2461-2463)ATT>ATC p.I821I NCAM2_uc011acb.1_Silent_p.I679I NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 821 Cytoplasmic (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTATAGAAATTAAAGTTTCTA 0.328 SUSD2 56241 broad.mit.edu 37 22 24583244 24583244 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:24583244G>A uc002zzn.1 + 11 1761 c.1717G>A c.(1717-1719)GTG>ATG p.V573M NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 573 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GGAGGTCAGCGTGCAGGGCCC 0.647 ZNRF3 84133 broad.mit.edu 37 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:29446744C>T uc003aeg.2 + 8 2440 c.2275C>T c.(2275-2277)CGA>TGA p.R759* ZNRF3_uc003aeh.1_Nonsense_Mutation_p.R759* NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 859 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 GGGTGGGACGCGAGGCCCGGA 0.697 ASCC2 84164 broad.mit.edu 37 22 30221652 30221652 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:30221652C>T uc003agr.2 - 3 304 c.199G>A c.(199-201)GAC>AAC p.D67N ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.D67N|ASCC2_uc011akr.1_Intron NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 67 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) AGGAGCCAGTCGAGGTCATTG 0.493 ZC3H7B 23264 broad.mit.edu 37 22 41735150 41735150 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:41735150C>T uc003azw.2 + 9 987 c.771C>T c.(769-771)GAC>GAT p.D257D ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 273 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 ACTTCTCAGACGGGGATGTCT 0.662 SMC1B 27127 broad.mit.edu 37 22 45809402 45809402 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:45809402C>T uc003bgc.2 - 1 99 c.47G>A c.(46-48)CGG>CAG p.R16Q SMC1B_uc003bgd.2_Missense_Mutation_p.R16Q|RIBC2_uc011aqs.1_5'Flank NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 16 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTGGCGGCCCCGCCACGACTT 0.667 GRAMD4 23151 broad.mit.edu 37 22 47057337 47057337 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:47057337C>T uc003bhx.2 + 4 503 c.464C>T c.(463-465)GCA>GTA p.A155V GRAMD4_uc010had.2_Missense_Mutation_p.A94V NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 155 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGCAATGGAGCAGGTACACCC 0.453 TUBGCP6 85378 broad.mit.edu 37 22 50656526 50656526 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:50656526G>A uc003bkb.1 - 24 5701 c.5189C>T c.(5188-5190)GCG>GTG p.A1730V TUBGCP6_uc003bka.1_Missense_Mutation_p.A800V|TUBGCP6_uc010har.1_Missense_Mutation_p.A1722V|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1730 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GACGGGCGCCGCCTTCTCCGT 0.697 FANCD2 2177 broad.mit.edu 37 3 10074520 10074520 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:10074520C>T uc003buw.2 + 3 147 c.69C>T c.(67-69)ACC>ACT p.T23T FANCD2_uc003bux.1_Silent_p.T23T|FANCD2_uc003buy.1_Silent_p.T23T|FANCD2_uc003buv.2_Silent_p.T23T NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 23 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTTCAGAAACCAGGAAGCAAC 0.303 D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia TGFBR2 7048 broad.mit.edu 37 3 30713390 30713390 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:30713390A>G uc003ceo.2 + 4 1097 c.715A>G c.(715-717)ACA>GCA p.T239A TGFBR2_uc003cen.2_Missense_Mutation_p.T264A NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 239 Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 CAACCACAACACAGAGCTGCT 0.542 CMTM6 54918 broad.mit.edu 37 3 32529529 32529529 + Splice_Site SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:32529529C>A uc003cfa.1 - 3 482 c.316_splice c.e3-1 p.D106_splice NM_017801 NP_060271 Q9NX76 CKLF6_HUMAN CKLF-like MARVEL transmembrane domain containing chemotaxis extracellular space|integral to membrane cytokine activity 0 TATAAAAATCCTATGCATACA 0.333 VILL 50853 broad.mit.edu 37 3 38035802 38035802 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:38035802C>T uc003chj.2 + 4 472 c.186C>T c.(184-186)TAC>TAT p.Y62Y VILL_uc003chk.1_Silent_p.Y62Y|VILL_uc003chl.2_Silent_p.Y62Y|VILL_uc010hgu.2_5'UTR NM_015873 NP_056957 O15195 VILL_HUMAN villin-like protein 62 Gelsolin-like 1. actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCTGCACTACTGGGTCGGGA 0.697 TTC21A 199223 broad.mit.edu 37 3 39179046 39179046 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:39179046C>T uc003cjc.2 + 26 3718 c.3541C>T c.(3541-3543)CGT>TGT p.R1181C TTC21A_uc003cje.2_Missense_Mutation_p.R1182C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R1133C|TTC21A_uc003cjf.2_Missense_Mutation_p.R302C NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 1181 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCCCAAGGCGCGTATGCAGTT 0.607 MYRIP 25924 broad.mit.edu 37 3 40085751 40085751 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:40085751C>T uc003cka.2 + 3 456 c.321C>T c.(319-321)TGC>TGT p.C107C MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.C107C|MYRIP_uc010hhw.2_Missense_Mutation_p.A64V|MYRIP_uc010hhx.1_Silent_p.C107C NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 107 RabBD. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GCTGCGTCTGCCAGCAAGCGA 0.527 RPL14 9045 broad.mit.edu 37 3 40500174 40500174 + Silent SNP C C A rs61748304 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:40500174C>A uc003ckg.2 + 3 198 c.147C>A c.(145-147)GCC>GCA p.A49A RPL14_uc003ckh.2_Silent_p.A49A|RPL14_uc003cki.2_5'UTR NM_003973 NP_003964 P50914 RL14_HUMAN ribosomal protein L14 49 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGAGACAGGCCATGCCTTTCA 0.453 ULK4 54986 broad.mit.edu 37 3 41607536 41607536 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:41607536A>G uc003ckv.3 - 32 3407 c.3206T>C c.(3205-3207)ATG>ACG p.M1069T NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 1069 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AAGTAGTTCCATATTCGAATC 0.313 CLEC3B 7123 broad.mit.edu 37 3 45077050 45077050 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:45077050C>T uc003cok.3 + 3 339 c.243C>T c.(241-243)TGC>TGT p.C81C CLEC3B_uc003col.2_Silent_p.C39C NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 81 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACATGAAATGCTTTCTGGCCT 0.632 PRKAR2A 5576 broad.mit.edu 37 3 48789703 48789703 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:48789703G>A uc010hki.1 - 10 1228 c.987C>T c.(985-987)CGC>CGT p.R329R PRKAR2A_uc003cux.1_Silent_p.R329R|PRKAR2A_uc003cuy.1_Silent_p.R307R NM_004157 NP_004148 P13861 KAP2_HUMAN cAMP-dependent protein kinase, regulatory 329 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) CCTTATGGCAGCGGGCAATCT 0.517 RHOA 387 broad.mit.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:49412898T>C uc003cwu.2 - 2 401 c.125A>G c.(124-126)TAT>TGT p.Y42C RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 42 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATCTGCCACATAGTTCTCAAA 0.433 SLC38A3 10991 broad.mit.edu 37 3 50253006 50253006 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:50253006G>A uc003cyn.3 + 6 545 c.404G>A c.(403-405)CGT>CAT p.R135H SLC38A3_uc011bdl.1_Missense_Mutation_p.R110H|SLC38A3_uc011bdm.1_Missense_Mutation_p.R66H NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 135 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CTGGGCTACCGTGCCTTTGGG 0.627 DOCK3 1795 broad.mit.edu 37 3 51263118 51263118 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:51263118G>A uc011bds.1 + 15 1314 c.1291G>A c.(1291-1293)GGG>AGG p.G431R NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 431 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCTGGAGAAGGGGGATTTCGA 0.463 DOCK3 1795 broad.mit.edu 37 3 51392352 51392352 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:51392352C>T uc011bds.1 + 41 4170 c.4147C>T c.(4147-4149)CTG>TTG p.L1383L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1383 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CTACGAGAGGCTGGAGGCCTT 0.567 RBM15B 29890 broad.mit.edu 37 3 51430610 51430610 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:51430610C>T uc003dbd.2 + 1 1880 c.1780C>T c.(1780-1782)CGG>TGG p.R594W NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 594 Nuclear localization signal (Potential). interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGAAGAGAGGCGGAAACGGAG 0.612 CACNA2D3 55799 broad.mit.edu 37 3 54157605 54157605 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:54157605C>T uc003dhf.2 + 2 236 c.188C>T c.(187-189)TCC>TTC p.S63F CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_5'UTR|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 63 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACTCCGGTTCCCAGCTTCTG 0.488 C3orf63 23272 broad.mit.edu 37 3 56658620 56658620 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:56658620G>A uc003did.3 - 22 4288 c.4187C>T c.(4186-4188)GCA>GTA p.A1396V C3orf63_uc003dib.3_Missense_Mutation_p.A515V|C3orf63_uc003dic.3_Missense_Mutation_p.A1020V|C3orf63_uc003die.3_Missense_Mutation_p.A1457V NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1457 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TTCAGCAGTTGCAACCACTAT 0.333 FLNB 2317 broad.mit.edu 37 3 58139223 58139223 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:58139223C>T uc003djj.2 + 39 6654 c.6489C>T c.(6487-6489)GGC>GGT p.G2163G FLNB_uc010hne.2_Silent_p.G2194G|FLNB_uc003djk.2_Silent_p.G2152G|FLNB_uc010hnf.2_Silent_p.G2139G|FLNB_uc003djl.2_Silent_p.G1983G|FLNB_uc003djm.2_Silent_p.G1970G|FLNB_uc010hng.1_RNA NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2163 Filamin 20.|Interaction with FLNA 1.|Interaction with INPPL1. 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) AGGAGATGGGCGTGCACACGG 0.652 ATXN7 6314 broad.mit.edu 37 3 63981463 63981463 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:63981463G>A uc003dlw.3 + 12 2518 c.1965G>A c.(1963-1965)ACG>ACA p.T655T ATXN7_uc003dlv.2_Silent_p.T655T|ATXN7_uc010hnv.2_Silent_p.T655T|ATXN7_uc011bfn.1_Silent_p.T510T NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 655 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CCCCTTCCACGCCCTCTGGCC 0.522 ADAMTS9 56999 broad.mit.edu 37 3 64582637 64582637 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:64582637G>A uc003dmg.2 - 27 4080 c.4048C>T c.(4048-4050)CGG>TGG p.R1350W ADAMTS9_uc011bfo.1_Missense_Mutation_p.R1322W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1179W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R261W NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1350 TSP type-1 9. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACAACACGCCGCTGGGATCCG 0.498 LRIG1 26018 broad.mit.edu 37 3 66431997 66431997 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:66431997G>A uc003dmx.2 - 17 2690 c.2676C>T c.(2674-2676)TGC>TGT p.C892C SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.C512C|LRIG1_uc003dmw.2_Silent_p.C558C|LRIG1_uc010hnz.2_Silent_p.C608C|LRIG1_uc010hoa.2_Silent_p.C869C NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 892 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGGCTGCCTGCAGGCAACGC 0.537 MINA 84864 broad.mit.edu 37 3 97677947 97677947 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:97677947C>T uc003drz.1 - 4 1135 c.629G>A c.(628-630)AGC>AAC p.S210N MINA_uc003dsa.1_Missense_Mutation_p.S210N|MINA_uc003dsb.1_Missense_Mutation_p.S210N|MINA_uc003dsc.1_Missense_Mutation_p.S210N|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 210 JmjC. ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 GGCCTCCACGCTGTACTCTCG 0.567 CEP97 79598 broad.mit.edu 37 3 101477203 101477203 + Missense_Mutation SNP C C T rs145086802 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:101477203C>T uc003dvk.1 + 9 1780 c.1753C>T c.(1753-1755)CGT>TGT p.R585C CEP97_uc010hpm.1_Missense_Mutation_p.R551C|CEP97_uc011bhf.1_Missense_Mutation_p.R526C|CEP97_uc003dvl.1_Missense_Mutation_p.R281C|CEP97_uc003dvm.1_Missense_Mutation_p.R423C NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 585 IQ.|CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 CAAAGATGTGCGTTACGAAAT 0.463 PVRL3 25945 broad.mit.edu 37 3 110837775 110837775 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:110837775T>C uc003dxt.1 + 3 775 c.775T>C c.(775-777)TAC>CAC p.Y259H PVRL3_uc003dxu.1_Missense_Mutation_p.Y236H NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 259 Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 GGACATCCGATACTCTTTCAT 0.318 ARHGAP31 57514 broad.mit.edu 37 3 119121096 119121096 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:119121096C>T uc003ecj.3 + 10 2029 c.1497C>T c.(1495-1497)TCC>TCT p.S499S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 499 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TCCGCGTGTCCGCAGTCATCA 0.597 PTPLB 201562 broad.mit.edu 37 3 123286614 123286614 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:123286614G>A uc003egj.2 - 3 337 c.287C>T c.(286-288)GCT>GTT p.A96V NM_198402 NP_940684 Q6Y1H2 HACD2_HUMAN protein tyrosine phosphatase-like (proline 96 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity|protein binding kidney(1) 1 GBM - Glioblastoma multiforme(114;0.1) CTTACCTATAGCACAATGTAA 0.284 PLXND1 23129 broad.mit.edu 37 3 129284343 129284343 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:129284343C>T uc003emx.2 - 25 4461 c.4361G>A c.(4360-4362)GGC>GAC p.G1454D PLXND1_uc011blb.1_Missense_Mutation_p.G122D NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1454 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CTCCAGCTTGCCGTGCAGCGC 0.637 PIK3R4 30849 broad.mit.edu 37 3 130447425 130447425 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:130447425C>T uc003enj.2 - 6 2270 c.1689G>A c.(1687-1689)CGG>CGA p.R563R NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 563 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 ATACACACAGCCGTGTTATTC 0.388 CPNE4 131034 broad.mit.edu 37 3 131624148 131624148 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:131624148C>T uc003eok.2 - 2 575 c.140G>A c.(139-141)TGT>TAT p.C47Y CPNE4_uc011blq.1_Missense_Mutation_p.C65Y|CPNE4_uc003eol.2_Missense_Mutation_p.C65Y|CPNE4_uc003eom.2_Missense_Mutation_p.C47Y NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 47 C2 1. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GAGGATGACACAGGGGTCTGG 0.493 EPHB1 2047 broad.mit.edu 37 3 134851733 134851733 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:134851733T>G uc003eqt.2 + 5 1359 c.1139T>G c.(1138-1140)GTG>GGG p.V380G EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 380 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GTGGAGTTTGTGCCCAGGCAG 0.612 SAMD7 344658 broad.mit.edu 37 3 169642908 169642908 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:169642908C>T uc003fgd.2 + 5 541 c.274C>T c.(274-276)CGG>TGG p.R92W SAMD7_uc003fge.2_Missense_Mutation_p.R92W|SAMD7_uc011bpo.1_Translation_Start_Site NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 92 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AATGATTCAACGGCATCATAC 0.358 NAALADL2 254827 broad.mit.edu 37 3 175189442 175189442 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:175189442C>A uc003fit.2 + 9 1636 c.1549C>A c.(1549-1551)CTT>ATT p.L517I NAALADL2_uc003fiu.1_Missense_Mutation_p.L510I|NAALADL2_uc010hwy.1_Missense_Mutation_p.L291I|NAALADL2_uc010hwz.1_Missense_Mutation_p.L111I NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 517 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) CAAGAAGGTTCTTCAGAAAAA 0.343 CCDC39 339829 broad.mit.edu 37 3 180365973 180365973 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:180365973G>C uc010hxe.2 - 10 1457 c.1342C>G c.(1342-1344)CAA>GAA p.Q448E CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 448 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATAATTTCTTGCTGCTTCAAG 0.338 DNAJB11 51726 broad.mit.edu 37 3 186301734 186301734 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:186301734A>G uc003fqi.2 + 8 1041 c.821A>G c.(820-822)GAG>GGG p.E274G NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 274 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GTTGGCTTTGAGATGGATATT 0.373 KNG1 3827 broad.mit.edu 37 3 186449380 186449380 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:186449380G>A uc011bsa.1 + 6 931 c.719G>A c.(718-720)CGA>CAA p.R240Q KNG1_uc003fqr.2_Missense_Mutation_p.R240Q NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 240 Cystatin 2. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) ATTCAGCTACGAATTGCTTCC 0.388 IQCG 84223 broad.mit.edu 37 3 197670673 197670673 + Silent SNP G G A rs143691583 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:197670673G>A uc003fyo.2 - 3 404 c.258C>T c.(256-258)TAC>TAT p.Y86Y IQCG_uc003fyp.2_Silent_p.Y86Y|IQCG_uc003fyq.3_Silent_p.Y86Y NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 86 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GTCTCCCTTCGTACTGAACGG 0.453 JAKMIP1 152789 broad.mit.edu 37 4 6086667 6086667 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:6086667A>G uc003giu.3 - 5 1136 c.860T>C c.(859-861)GTG>GCG p.V287A JAKMIP1_uc010idb.1_Missense_Mutation_p.V287A|JAKMIP1_uc010idc.1_Missense_Mutation_p.V122A|JAKMIP1_uc010idd.1_Missense_Mutation_p.V287A|JAKMIP1_uc011bwc.1_Missense_Mutation_p.V122A|JAKMIP1_uc003giv.3_Missense_Mutation_p.V287A|JAKMIP1_uc010ide.2_Missense_Mutation_p.V287A NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 287 Potential.|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 AAATCGCCTCACATCTCGCTC 0.363 SHISA3 152573 broad.mit.edu 37 4 42403032 42403032 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:42403032C>A uc003gwp.2 + 2 499 c.281C>A c.(280-282)CCT>CAT p.P94H NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 94 Extracellular (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CTTTTAGAGCCTGTCTACGTC 0.493 GABRG1 2565 broad.mit.edu 37 4 46099285 46099285 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:46099285T>G uc003gxb.2 - 2 338 c.186A>C c.(184-186)GGA>GGC p.G62G NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 62 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GTGTGATATCTCCTTCATGAA 0.368 LRRC66 339977 broad.mit.edu 37 4 52861644 52861644 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:52861644G>A uc003gzi.2 - 4 1557 c.1544C>T c.(1543-1545)GCC>GTC p.A515V NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 515 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 ACGGTTACCGGCATGTGGATG 0.537 RASL11B 65997 broad.mit.edu 37 4 53728803 53728803 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:53728803C>T uc003gzt.2 + 1 309 c.129C>T c.(127-129)GGC>GGT p.G43G NM_023940 NP_076429 Q9BPW5 RSLBB_HUMAN RAS-like family 11 member B 43 Small GTPase-like.|GTP (By similarity). small GTPase mediated signal transduction membrane GTP binding|GTPase activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0302) GCGCCAGCGGCGTGGGCAAGA 0.726 SRP72 6731 broad.mit.edu 37 4 57366808 57366808 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:57366808G>T uc003hbv.2 + 18 1825 c.1785G>T c.(1783-1785)AAG>AAT p.K595N SRP72_uc010ihe.2_Missense_Mutation_p.K534N|SRP72_uc003hbx.2_RNA NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 595 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) GTAAAAAGAAGGATCAGATTG 0.448 UBA6 55236 broad.mit.edu 37 4 68547904 68547904 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:68547904T>C uc003hdg.3 - 3 214 c.162A>G c.(160-162)ACA>ACG p.T54T UBA6_uc003hdi.2_Silent_p.T54T|UBA6_uc003hdj.2_Silent_p.T54T NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 54 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TCTGCATTGCTGTGTCTCCAA 0.338 HNRPDL 9987 broad.mit.edu 37 4 83349475 83349475 + Nonsense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:83349475C>A uc003hmr.2 - 2 1103 c.568G>T c.(568-570)GGA>TGA p.G190* ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Nonsense_Mutation_p.G190* NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 190 RRM 1. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) AATCCAAATCCTCTTGATCTC 0.398 UNC5C 8633 broad.mit.edu 37 4 96163632 96163632 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:96163632G>A uc003htp.1 - 7 1210 c.1056C>T c.(1054-1056)TGC>TGT p.C352C UNC5C_uc010ilc.1_Silent_p.C352C|UNC5C_uc003htq.2_Silent_p.C352C NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 352 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CGAGGCCGTCGCAGTCCTTGC 0.562 C4orf17 84103 broad.mit.edu 37 4 100451003 100451003 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:100451003C>A uc003huw.2 + 5 757 c.434C>A c.(433-435)CCT>CAT p.P145H C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 145 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CCACCATCACCTCCAAAGGCA 0.368 PPP3CA 5530 broad.mit.edu 37 4 101947132 101947132 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:101947132G>A uc011cen.1 - 14 2131 c.1456C>T c.(1456-1458)CGC>TGC p.R486C PPP3CA_uc003hvu.2_Missense_Mutation_p.R476C|PPP3CA_uc010ilj.2_Missense_Mutation_p.R434C|PPP3CA_uc003hvt.2_Missense_Mutation_p.R463C|PPP3CA_uc003hvs.2_Missense_Mutation_p.R419C|PPP3CA_uc010ilk.2_Missense_Mutation_p.R254C NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha 486 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GCATCTCTGCGAGGCGGCATC 0.483 SEC24B 10427 broad.mit.edu 37 4 110437688 110437688 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:110437688G>A uc003hzk.2 + 11 2073 c.2018G>A c.(2017-2019)CGT>CAT p.R673H SEC24B_uc003hzl.2_Missense_Mutation_p.R638H|SEC24B_uc011cfp.1_Missense_Mutation_p.R703H|SEC24B_uc011cfq.1_Missense_Mutation_p.R672H|SEC24B_uc011cfr.1_Missense_Mutation_p.R637H NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 673 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTTCAGCTGCGTCCTCCTCAA 0.318 ANKRD50 57182 broad.mit.edu 37 4 125591592 125591592 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:125591592C>T uc003ifg.3 - 3 3106 c.2840G>A c.(2839-2841)CGG>CAG p.R947Q ANKRD50_uc011cgo.1_Missense_Mutation_p.R768Q|ANKRD50_uc010inw.2_Missense_Mutation_p.R947Q NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 947 ANK 15. central_nervous_system(1) 1 AAGTGTAGGCCGACCATCAGC 0.428 FAT4 79633 broad.mit.edu 37 4 126328090 126328090 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:126328090G>A uc003ifj.3 + 3 5363 c.5363G>A c.(5362-5364)CGC>CAC p.R1788H FAT4_uc011cgp.1_Missense_Mutation_p.R86H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1788 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GATAGTTTTCGCATCGACCCA 0.468 POU4F2 5458 broad.mit.edu 37 4 147561490 147561490 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:147561490G>A uc003ikv.2 + 2 1008 c.760G>A c.(760-762)GAC>AAC p.D254N NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 254 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CGTGGACGCCGACCCGCGGGA 0.677 GLRB 2743 broad.mit.edu 37 4 158065036 158065036 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:158065036A>G uc003ipj.2 + 8 1031 c.829A>G c.(829-831)ACT>GCT p.T277A NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 277 Helical; (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CTACGCCCCAACTCTGCTCAT 0.522 MFAP3L 9848 broad.mit.edu 37 4 170912625 170912625 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:170912625T>C uc003isp.3 - 3 1312 c.1134A>G c.(1132-1134)GTA>GTG p.V378V MFAP3L_uc003isn.3_Silent_p.V275V NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 378 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CCTTATCTGGTACCTCAACAG 0.502 VEGFC 7424 broad.mit.edu 37 4 177608669 177608669 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:177608669T>G uc003ius.1 - 6 1247 c.817A>C c.(817-819)ACA>CCA p.T273P NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 273 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) AATCCATCTGTTGAGTCTAGA 0.458 SORBS2 8470 broad.mit.edu 37 4 186545527 186545527 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:186545527T>C uc003iyl.2 - 13 1902 c.1044A>G c.(1042-1044)TCA>TCG p.S348S SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.S448S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.S252S|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.S462S|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 348 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TGGCTCTTGGTGAGTCCCGAG 0.517 TRIML1 339976 broad.mit.edu 37 4 189060625 189060625 + Translation_Start_Site SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:189060625G>A uc003izm.1 + 1 28 c.-87G>A c.(-89--85)GCGTG>GCATG NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGTCACCCGCGTGTTACTCAA 0.468 LPCAT1 79888 broad.mit.edu 37 5 1501591 1501591 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:1501591G>A uc003jcm.2 - 2 380 c.263C>T c.(262-264)CCG>CTG p.P88L NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 88 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) CCACAGGGCCGGGGGCTGCTC 0.672 KIAA0947 23379 broad.mit.edu 37 5 5436579 5436579 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:5436579A>G uc003jdm.3 + 2 355 c.133A>G c.(133-135)ATC>GTC p.I45V NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 45 Potential. ovary(1)|central_nervous_system(1) 2 ACAAAAAATTATCAATACAGA 0.348 ROPN1L 83853 broad.mit.edu 37 5 10442330 10442330 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:10442330G>A uc003jex.3 + 1 322 c.51G>A c.(49-51)CCG>CCA p.P17P NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 17 RIIa. ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 ACATTCCCCCGGAGCTGCCGG 0.677 MYO10 4651 broad.mit.edu 37 5 16694521 16694521 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:16694521G>A uc003jft.3 - 27 4227 c.3759C>T c.(3757-3759)AGC>AGT p.S1253S MYO10_uc011cnc.1_Silent_p.S132S|MYO10_uc011cnd.1_Silent_p.S610S|MYO10_uc011cne.1_Silent_p.S610S|MYO10_uc010itx.2_Silent_p.S876S NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1253 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GCTTCTCCTCGCTGTCGTTTT 0.547 RICTOR 253260 broad.mit.edu 37 5 38945599 38945599 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:38945599G>A uc003jlp.2 - 34 4651 c.4627C>T c.(4627-4629)CAT>TAT p.H1543Y RICTOR_uc003jlo.2_Missense_Mutation_p.H1567Y|RICTOR_uc010ivf.2_Missense_Mutation_p.H1220Y NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1543 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTACCTGAATGACTACATATT 0.378 NLN 57486 broad.mit.edu 37 5 65081624 65081624 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:65081624A>G uc003juf.2 + 7 961 c.845A>G c.(844-846)CAG>CGG p.Q282R NLN_uc003jue.2_Missense_Mutation_p.Q282R|NLN_uc003jug.2_Missense_Mutation_p.Q111R|NLN_uc010iww.2_5'UTR NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN neurolysin precursor 282 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) ATTTTGCAGCAGCTACTCCCA 0.403 MAST4 375449 broad.mit.edu 37 5 66084576 66084576 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:66084576G>A uc003jur.3 + 3 904 c.596G>A c.(595-597)CGC>CAC p.R199H MAST4_uc010iwz.2_Missense_Mutation_p.R199H NM_198828 NP_942123 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 199 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GTGCGCATGCGCAGCCAGGCC 0.672 MAP1B 4131 broad.mit.edu 37 5 71411594 71411594 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:71411594G>T uc003kbw.3 + 2 495 c.254G>T c.(253-255)CGA>CTA p.R85L MAP1B_uc010iyw.1_Missense_Mutation_p.R85L|MAP1B_uc010iyx.1_5'UTR NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 85 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TTTGTATCTCGACACTCTGCA 0.468 TMEM174 134288 broad.mit.edu 37 5 72469122 72469122 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:72469122G>A uc010izc.2 + 1 100 c.52G>A c.(52-54)GTC>ATC p.V18I NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 18 integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) TGTGTTCTCCGTCACTCCTTA 0.582 VCAN 1462 broad.mit.edu 37 5 82789716 82789716 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:82789716T>G uc003kii.3 + 5 1070 c.714T>G c.(712-714)ACT>ACG p.T238T VCAN_uc003kij.3_Silent_p.T238T|VCAN_uc010jau.2_Silent_p.T238T|VCAN_uc003kik.3_Silent_p.T238T|VCAN_uc003kih.3_Silent_p.T238T NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 238 Link 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCCAGGAAACTTACGATGTGT 0.448 VCAN 1462 broad.mit.edu 37 5 82816658 82816658 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:82816658A>C uc003kii.3 + 7 2889 c.2533A>C c.(2533-2535)AGT>CGT p.S845R VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S845R|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 845 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGACATCCCAAGTTTCACTGA 0.428 EDIL3 10085 broad.mit.edu 37 5 83356138 83356138 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:83356138T>C uc003kio.1 - 9 1537 c.1118A>G c.(1117-1119)GAC>GGC p.D373G EDIL3_uc003kip.1_Missense_Mutation_p.D363G|EDIL3_uc011ctt.1_Missense_Mutation_p.D150G NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 373 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTGTGACTGGTCATTGTGGCC 0.453 EDIL3 10085 broad.mit.edu 37 5 83360536 83360536 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:83360536A>G uc003kio.1 - 8 1354 c.935T>C c.(934-936)CTT>CCT p.L312P EDIL3_uc003kip.1_Missense_Mutation_p.L302P|EDIL3_uc011ctt.1_Missense_Mutation_p.L89P NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 312 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TTCACAGCCAAGAAGTTCCAT 0.373 GPR98 84059 broad.mit.edu 37 5 89938835 89938835 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:89938835G>T uc003kju.2 + 13 2626 c.2530G>T c.(2530-2532)GCA>TCA p.A844S GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 844 Extracellular (Potential).|Calx-beta 6. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CACCTTGCTAGCAAGATTGGA 0.353 FAM81B 153643 broad.mit.edu 37 5 94731879 94731879 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:94731879A>T uc003kla.1 + 3 339 c.293A>T c.(292-294)AAG>ATG p.K98M FAM81B_uc010jbe.1_Translation_Start_Site NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 98 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TATGTTGACAAGTAAGTGTGT 0.299 APC 324 broad.mit.edu 37 5 112137021 112137021 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:112137021C>T uc010jby.2 + 8 1155 c.775C>T c.(775-777)CGG>TGG p.R259W APC_uc011cvt.1_Missense_Mutation_p.R241W|APC_uc003kpz.3_Missense_Mutation_p.R259W|APC_uc003kpy.3_Missense_Mutation_p.R259W|APC_uc010jbz.2_5'UTR NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 259 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGATGCTGAGCGGCAGAATGA 0.363 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PDLIM4 8572 broad.mit.edu 37 5 131607852 131607852 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:131607852C>A uc003kwn.2 + 7 1000 c.923C>A c.(922-924)GCG>GAG p.A308E uc003kwm.3_Intron|PDLIM4_uc003kwp.2_3'UTR|PDLIM4_uc003kwo.2_Missense_Mutation_p.A416E NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 308 LIM zinc-binding. protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACGCCAAGGCGCGCGTGAAG 0.622 PHF15 23338 broad.mit.edu 37 5 133897939 133897939 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:133897939C>T uc003kzo.1 + 7 913 c.734C>T c.(733-735)ACG>ATG p.T245M PHF15_uc011cxt.1_Missense_Mutation_p.T245M|PHF15_uc003kzk.2_Missense_Mutation_p.T261M|PHF15_uc003kzl.2_Missense_Mutation_p.T245M|PHF15_uc003kzm.2_Missense_Mutation_p.T245M|PHF15_uc003kzn.2_Missense_Mutation_p.T245M|PHF15_uc003kzp.2_5'Flank NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 245 PHD-type. histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGTGCCGGACGTGTGCCCTG 0.617 PHF15 23338 broad.mit.edu 37 5 133914284 133914284 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:133914284G>A uc003kzo.1 + 11 1829 c.1650G>A c.(1648-1650)TGG>TGA p.W550* PHF15_uc011cxt.1_Nonsense_Mutation_p.W594*|PHF15_uc003kzk.2_Nonsense_Mutation_p.W610*|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Nonsense_Mutation_p.W551*|PHF15_uc003kzn.2_3'UTR NM_015288 NP_056103 Q9NQC1 JADE2_HUMAN PHD finger protein 15 550 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGCGAGTGGCCACTGAACA 0.607 SIL1 64374 broad.mit.edu 37 5 138282955 138282955 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:138282955G>A uc003ldm.2 - 9 1254 c.1237C>T c.(1237-1239)CGT>TGT p.R413C SIL1_uc003ldn.2_Missense_Mutation_p.R412C|SIL1_uc003ldo.2_Missense_Mutation_p.R413C|SIL1_uc003ldp.2_Missense_Mutation_p.R413C NM_022464 NP_071909 Q9H173 SIL1_HUMAN SIL1 protein precursor 413 intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGGTCCTGACGGTAGCGGTCC 0.672 Marinesco-Sj_gren_syndrome PCDHAC1 56135 broad.mit.edu 37 5 140308103 140308103 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:140308103C>A uc003lih.2 + 1 1802 c.1626C>A c.(1624-1626)AAC>AAA p.N542K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.N542K NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 542 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACTATAAACTTGTTTGTGG 0.478 PCDHB7 56129 broad.mit.edu 37 5 140554245 140554245 + Missense_Mutation SNP C C T rs142959046 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:140554245C>T uc003lit.2 + 1 2003 c.1829C>T c.(1828-1830)ACG>ATG p.T610M NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 610 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCAAGGCCACGGAGCCCGGG 0.711 PCDHB16 57717 broad.mit.edu 37 5 140562469 140562469 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:140562469A>C uc003liv.2 + 1 1490 c.335A>C c.(334-336)AAC>ACC p.N112T PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 112 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAATGGAAAACCCTTTAGAA 0.403 DPYSL3 1809 broad.mit.edu 37 5 146775259 146775259 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:146775259C>A uc003lon.1 - 13 1597 c.1487G>T c.(1486-1488)AGG>ATG p.R496M DPYSL3_uc003loo.2_Missense_Mutation_p.R610M NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 496 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACATGCCCCTTGGGACGGC 0.552 PDGFRB 5159 broad.mit.edu 37 5 149501535 149501535 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:149501535T>C uc003lro.2 - 16 2721 c.2252A>G c.(2251-2253)TAT>TGT p.Y751C PDGFRB_uc010jhd.2_Missense_Mutation_p.Y590C NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 751 Cytoplasmic (Potential).|Protein kinase. Y->F: No effect on GRB10-binding. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CATGGGCACATAGTCCACCGA 0.557 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML MED7 9443 broad.mit.edu 37 5 156566145 156566145 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:156566145G>T uc010jik.2 - 2 690 c.298C>A c.(298-300)CCT>ACT p.P100T MED7_uc003lwm.3_Missense_Mutation_p.P100T NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 100 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATACTCCCAGGGCTCCTTATT 0.358 GABRA6 2559 broad.mit.edu 37 5 161113276 161113276 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:161113276T>C uc003lyu.2 + 2 417 c.79T>C c.(79-81)TTC>CTC p.F27L NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 27 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAGGCAACTTCTACTCAGA 0.478 TCGA Ovarian(5;0.080) DOCK2 1794 broad.mit.edu 37 5 169482374 169482374 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:169482374C>T uc003maf.2 + 42 4359 c.4279C>T c.(4279-4281)CCT>TCT p.P1427S DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.P919S|DOCK2_uc003mah.2_5'Flank NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1427 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) TAAGCCAGTGCCTGACCAGAT 0.488 FBXW11 23291 broad.mit.edu 37 5 171299942 171299942 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:171299942C>T uc003mbm.1 - 9 1582 c.1211G>A c.(1210-1212)CGG>CAG p.R404Q FBXW11_uc011dey.1_Missense_Mutation_p.R372Q|FBXW11_uc003mbl.1_Missense_Mutation_p.R391Q|FBXW11_uc003mbn.1_Missense_Mutation_p.R370Q NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 404 WD 5. cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1)|breast(1) 2 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGCAATGCCCCGCTTGTGCCC 0.463 ARL10 285598 broad.mit.edu 37 5 175795967 175795967 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:175795967C>T uc003mec.1 + 3 608 c.543C>T c.(541-543)GTC>GTT p.V181V ARL10_uc003meb.2_Silent_p.V181V NM_173664 NP_775935 Q8N8L6 ARL10_HUMAN ADP-ribosylation factor-like 10 181 GTP binding ovary(1) 1 all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.0965) TGCCTGTCGTCGTGGTGGCCA 0.652 DDX41 51428 broad.mit.edu 37 5 176939616 176939616 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:176939616G>A uc003mho.2 - 14 1451 c.1430C>T c.(1429-1431)GCA>GTA p.A477V DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.A257V|DDX41_uc003mhn.2_Missense_Mutation_p.A346V|DDX41_uc003mhp.2_Missense_Mutation_p.A346V NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 477 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 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)|Epithelial(233;0.191) CTCCCGGAATGCCTCGATGGC 0.602 ZNF354A 6940 broad.mit.edu 37 5 178152390 178152390 + Silent SNP G G A rs113512483 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:178152390G>A uc003mjj.2 - 4 441 c.243C>T c.(241-243)GGC>GGT p.G81G NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 81 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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) all cancers(165;0.185) GAGAGGAGACGCCAGAACCGT 0.522 BMP6 654 broad.mit.edu 37 6 7727739 7727739 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:7727739G>A uc003mxu.3 + 1 729 c.551G>A c.(550-552)CGC>CAC p.R184H NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 184 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CCGCTCAACCGCAAGAGCCTT 0.736 TMEM14B 81853 broad.mit.edu 37 6 10751370 10751370 + Silent SNP C C T rs146042312 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:10751370C>T uc003mzk.3 + 4 269 c.105C>T c.(103-105)AGC>AGT p.S35S SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jor.2_Intron|TMEM14B_uc010jos.1_Intron NM_030969 NP_112231 Q9NUH8 TM14B_HUMAN transmembrane protein 14B isoform a 35 Helical; (Potential). integral to membrane 0 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) TTCTAGGCAGCGTGCCGTCCC 0.542 NEDD9 4739 broad.mit.edu 37 6 11191046 11191046 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:11191046C>T uc003mzv.2 - 5 1223 c.1056G>A c.(1054-1056)CCG>CCA p.P352P NEDD9_uc010joz.2_Silent_p.P352P|NEDD9_uc003mzw.3_Silent_p.P206P NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 352 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TAGCATCTGGCGGGTTATGCA 0.537 SLC17A3 10786 broad.mit.edu 37 6 25850316 25850316 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:25850316C>A uc003nfi.3 - 8 959 c.849G>T c.(847-849)AAG>AAT p.K283N SLC17A3_uc003nfk.3_Missense_Mutation_p.K361N|SLC17A3_uc011djz.1_3'UTR NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 283 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TGAGTCTAAACTTTTTGGTTA 0.413 SLC17A3 10786 broad.mit.edu 37 6 25855394 25855394 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:25855394C>T uc003nfi.3 - 5 566 c.456G>A c.(454-456)TGG>TGA p.W152* SLC17A3_uc003nfk.3_Nonsense_Mutation_p.W230*|SLC17A3_uc011djz.1_Nonsense_Mutation_p.W230*|SLC17A3_uc011dka.1_Nonsense_Mutation_p.W152* NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 152 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 AGACAAAGGGCCACCCAAGGG 0.418 SLC44A4 80736 broad.mit.edu 37 6 31833683 31833683 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:31833683A>G uc010jti.2 - 14 1520 c.1454T>C c.(1453-1455)TTC>TCC p.F485S NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 485 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GATTAAGGGGAAGGTAGGGAT 0.622 NOTCH4 4855 broad.mit.edu 37 6 32169918 32169918 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:32169918G>A uc003obb.2 - 21 3829 c.3690C>T c.(3688-3690)CAC>CAT p.H1230H NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1230 LNR 2.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CACACTGTGGGTGGCACTGCC 0.617 HLA-DOA 3111 broad.mit.edu 37 6 32975851 32975851 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:32975851G>A uc003ocr.2 - 2 346 c.270C>T c.(268-270)GCC>GCT p.A90A HLA-DOA_uc010juj.2_Silent_p.A60A|HLA-DOA_uc010jui.2_Silent_p.A90A NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 90 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 CTTTGATTGCGGCGATGCCGG 0.637 COL11A2 1302 broad.mit.edu 37 6 33152008 33152008 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:33152008C>T uc003ocx.1 - 8 1261 c.1033G>A c.(1033-1035)GAT>AAT p.D345N COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 345 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TAGGTGTAATCGTAGGGCCCT 0.597 ITPR3 3710 broad.mit.edu 37 6 33632704 33632704 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:33632704T>C uc011drk.1 + 12 1425 c.1206T>C c.(1204-1206)AAT>AAC p.N402N NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 402 Cytoplasmic (Potential).|MIR 5. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 AGAGCACCAATGTGCCCATTG 0.507 USP49 25862 broad.mit.edu 37 6 41766584 41766584 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:41766584C>A uc003ori.2 - 7 1976 c.1754G>T c.(1753-1755)AGG>ATG p.R585M NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 585 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGCATGTCCCTGCAGCAGTA 0.498 PPP2R5D 5528 broad.mit.edu 37 6 42974334 42974334 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:42974334T>C uc003oth.2 + 3 325 c.239T>C c.(238-240)ATT>ACT p.I80T MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.I80T|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 80 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGCCCCAGATTGTCAAGAAG 0.527 CUL9 23113 broad.mit.edu 37 6 43182994 43182994 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:43182994C>T uc003ouk.2 + 30 5941 c.5866C>T c.(5866-5868)CCC>TCC p.P1956S CUL9_uc003oul.2_Missense_Mutation_p.P1928S|CUL9_uc010jyk.2_Missense_Mutation_p.P1108S|CUL9_uc003oun.2_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1956 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CGCTCCAGAGCCCATGGGGCC 0.612 TTBK1 84630 broad.mit.edu 37 6 43251219 43251219 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:43251219G>A uc003ouq.1 + 14 3020 c.2741G>A c.(2740-2742)GGG>GAG p.G914E NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 914 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ACAGGGGTCGGGGGCGTGGCA 0.627 TJAP1 93643 broad.mit.edu 37 6 43473430 43473430 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:43473430G>T uc003ovd.2 + 11 1887 c.1511G>T c.(1510-1512)AGG>ATG p.R504M TJAP1_uc003ovf.2_Missense_Mutation_p.R494M|TJAP1_uc003ove.2_Missense_Mutation_p.R494M|TJAP1_uc003ovc.2_Missense_Mutation_p.R494M|TJAP1_uc010jyp.2_Missense_Mutation_p.R463M|TJAP1_uc011dvh.1_Missense_Mutation_p.R494M|TJAP1_uc003ovg.2_Missense_Mutation_p.R370M|TJAP1_uc011dvi.1_Missense_Mutation_p.R504M|TJAP1_uc011dvj.1_Missense_Mutation_p.R304M|TJAP1_uc003ovi.2_Missense_Mutation_p.R370M NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 504 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CCCATTAACAGGGGCACAGAG 0.642 TMEM63B 55362 broad.mit.edu 37 6 44102354 44102354 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:44102354C>A uc003owr.2 + 2 97 c.33C>A c.(31-33)ACC>ACA p.T11T TMEM63B_uc003owq.1_Silent_p.T11T|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.2_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 11 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CACTGGGCACCACAGCCCTCA 0.667 TFAP2B 7021 broad.mit.edu 37 6 50807989 50807989 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:50807989A>C uc003pag.2 + 6 1227 c.1061A>C c.(1060-1062)AAG>ACG p.K354T NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 354 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) CACTCCCGAAAGAATATGCTG 0.547 BAI3 577 broad.mit.edu 37 6 69653796 69653796 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:69653796A>C uc003pev.3 + 6 1553 c.1105A>C c.(1105-1107)ACA>CCA p.T369P BAI3_uc010kak.2_Missense_Mutation_p.T369P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 369 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAGAACAAGAACAAGGTCATG 0.453 CD109 135228 broad.mit.edu 37 6 74528179 74528179 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:74528179C>A uc003php.2 + 31 4405 c.3980C>A c.(3979-3981)CCT>CAT p.P1327H CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.P1310H|CD109_uc010kba.2_Missense_Mutation_p.P1250H NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 1327 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TTTATGGTGCCTTCAGAAGCA 0.408 TBX18 9096 broad.mit.edu 37 6 85446536 85446536 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:85446536G>A uc003pkl.1 - 8 1691 c.1691C>T c.(1690-1692)ACG>ATG p.T564M TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 564 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTGCCGATCCGTCATGGTCCC 0.527 RNGTT 8732 broad.mit.edu 37 6 89650829 89650829 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:89650829G>T uc003pmr.2 - 2 355 c.135C>A c.(133-135)TTC>TTA p.F45L RNGTT_uc003pms.2_Missense_Mutation_p.F45L|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Missense_Mutation_p.F45L NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 45 TPase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TGCTGGGATGGAACCGATTTT 0.343 WASF1 8936 broad.mit.edu 37 6 110448716 110448716 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:110448716G>A uc003ptv.1 - 4 926 c.89C>T c.(88-90)ACC>ATC p.T30I WASF1_uc003ptw.1_Missense_Mutation_p.T30I|WASF1_uc003ptx.1_Missense_Mutation_p.T30I|WASF1_uc003pty.1_Missense_Mutation_p.T30I|WASF1_uc003ptz.1_Missense_Mutation_p.T30I NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 30 actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GGAAATATTGGTTACACATTC 0.363 HS3ST5 222537 broad.mit.edu 37 6 114378702 114378702 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:114378702C>T uc003pwg.3 - 2 792 c.760G>A c.(760-762)GAT>AAT p.D254N uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.D254N NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 254 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CGATCTCCATCGACGACATGA 0.418 TRMT11 60487 broad.mit.edu 37 6 126359854 126359854 + Missense_Mutation SNP C C T rs142681128 by1000genomes TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:126359854C>T uc003qam.2 + 13 1385 c.1264C>T c.(1264-1266)CGG>TGG p.R422W TRMT11_uc003qan.2_RNA|TRMT11_uc010kev.2_Missense_Mutation_p.R417W NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN tRNA methyltransferase 11 422 tRNA processing methyltransferase activity|nucleic acid binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0356) CAAACAGAATCGGGACCAGTA 0.299 KIAA1244 57221 broad.mit.edu 37 6 138644821 138644821 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:138644821A>T uc003qhu.2 + 30 4780 c.4780A>T c.(4780-4782)ACA>TCA p.T1594S NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1594 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CGTCCTTGTGACAGCGGGCCC 0.368 ECT2L 345930 broad.mit.edu 37 6 139203986 139203986 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:139203986T>C uc003qif.1 + 14 2109 c.2006T>C c.(2005-2007)GTC>GCC p.V669A ECT2L_uc011edq.1_Missense_Mutation_p.V600A NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 669 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 AATTACCCTGTCATTCTGAAA 0.423 TXLNB 167838 broad.mit.edu 37 6 139564337 139564337 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:139564337C>T uc011eds.1 - 10 1546 c.1381G>A c.(1381-1383)GCA>ACA p.A461T NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 461 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GATATTTCTGCGTCTCTGATT 0.433 UST 10090 broad.mit.edu 37 6 149068723 149068723 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:149068723G>A uc003qmg.2 + 1 453 c.157G>A c.(157-159)GCC>ACC p.A53T NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 53 Helical; Signal-anchor for type II membrane protein; (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) CTTCTGCATGGCCACCCTGCT 0.682 ARID1B 57492 broad.mit.edu 37 6 157511330 157511330 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:157511330G>T uc003qqn.2 + 15 3946 c.3794G>T c.(3793-3795)GGG>GTG p.G1265V ARID1B_uc003qqo.2_Missense_Mutation_p.G1225V|ARID1B_uc003qqp.2_Missense_Mutation_p.G1212V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1270 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GACCCCTTTGGGGGAATGAGA 0.562 LPA 4018 broad.mit.edu 37 6 161010743 161010743 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:161010743T>G uc003qtl.2 - 25 3909 c.3789A>C c.(3787-3789)GCA>GCC p.A1263A NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3771 Kringle 34. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCTCCGTTGGTGCTGAAATTC 0.433 RNF216 54476 broad.mit.edu 37 7 5781027 5781027 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:5781027C>A uc003soy.1 - 4 640 c.450G>T c.(448-450)GAG>GAT p.E150D RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.E207D NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 150 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTGATAACAGCTCTGTCTCTG 0.458 USP42 84132 broad.mit.edu 37 7 6180573 6180573 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:6180573A>G uc011jwo.1 + 7 876 c.753A>G c.(751-753)TCA>TCG p.S251S USP42_uc011jwn.1_Silent_p.S96S|USP42_uc010kth.1_Silent_p.S184S|USP42_uc011jwp.1_Silent_p.S251S|USP42_uc011jwq.1_Silent_p.S58S|USP42_uc011jwr.1_Silent_p.S96S NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 251 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AGGGCGTTTCAGATACTTTTG 0.264 MIOS 54468 broad.mit.edu 37 7 7613797 7613797 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:7613797G>A uc003srf.2 + 5 1671 c.1363G>A c.(1363-1365)GGA>AGA p.G455R NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 455 0 GGTTTATGCAGGAATTAAATC 0.318 TAX1BP1 8887 broad.mit.edu 37 7 27868391 27868391 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:27868391G>A uc003szl.2 + 17 2471 c.2313G>A c.(2311-2313)CAG>CAA p.Q771Q TAX1BP1_uc011jzo.1_Silent_p.Q729Q|TAX1BP1_uc003szk.2_Silent_p.Q729Q|TAX1BP1_uc011jzp.1_Silent_p.Q572Q NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 771 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) ATGACCAGCAGGTGTTTGAAA 0.383 RP9 6100 broad.mit.edu 37 7 33136933 33136933 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:33136933C>T uc003tdm.2 - 4 373 c.355G>A c.(355-357)GAA>AAA p.E119K NM_203288 NP_976033 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 119 PIM1-binding (By similarity).|CCHC-type. RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding 0 GBM - Glioblastoma multiforme(11;0.0403) AAAGGGCATTCTTTGTCACCC 0.373 IGFBP3 3486 broad.mit.edu 37 7 45957023 45957023 + Nonsense_Mutation SNP G G T rs139238956 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:45957023G>T uc003tns.2 - 2 551 c.419C>A c.(418-420)TCG>TAG p.S140* IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Nonsense_Mutation_p.S146*|IGFBP3_uc003tnt.2_Nonsense_Mutation_p.S43* NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 140 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) GTCTTCCTCCGACTCACTAGC 0.502 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) POM121L12 285877 broad.mit.edu 37 7 53104076 53104076 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:53104076C>T uc003tpz.2 + 1 728 c.712C>T c.(712-714)CCG>TCG p.P238S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 238 0 GCCTCTGAAGCCGAGCCTCGG 0.657 TBL2 26608 broad.mit.edu 37 7 72992829 72992829 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:72992829C>T uc003tyh.2 - 1 185 c.51G>A c.(49-51)GGG>GGA p.G17G TBL2_uc011kex.1_5'Flank|TBL2_uc010lbg.2_5'UTR|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_5'UTR NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 17 0 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGCCAGCAGCCCAAGCAACA 0.711 SEMA3D 223117 broad.mit.edu 37 7 84649614 84649614 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:84649614C>T uc003uic.2 - 12 1478 c.1438G>A c.(1438-1440)GTC>ATC p.V480I SEMA3D_uc010led.2_Missense_Mutation_p.V480I|SEMA3D_uc003uib.2_Missense_Mutation_p.V119I NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 480 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 GAAATGCTGACAACTTTGAGG 0.408 DLX5 1749 broad.mit.edu 37 7 96651523 96651523 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:96651523C>T uc003uon.2 - 2 722 c.514G>A c.(514-516)GCC>ACC p.A172T DLX5_uc011kim.1_Missense_Mutation_p.A172T NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 172 Homeobox. cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CCCAGCGAGGCGGCCAGCTCG 0.562 SMURF1 57154 broad.mit.edu 37 7 98655080 98655080 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:98655080G>A uc003upu.1 - 4 618 c.298C>T c.(298-300)CTG>TTG p.L100L SMURF1_uc003upv.1_Silent_p.L100L|SMURF1_uc003upt.2_Silent_p.L100L NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 100 BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) TTGGAGAGCAGCCGCACACAG 0.453 SPDYE3 441272 broad.mit.edu 37 7 99917575 99917575 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:99917575C>T uc003uug.1 + 5 721 c.481C>T c.(481-483)CAC>TAC p.H161Y uc011kjm.1_5'Flank NM_001004351 NP_001004351 A6NKU9 SPDE3_HUMAN speedy homolog E3 538 0 TGACCCAGAGCACTGGGTGTG 0.607 CUX1 1523 broad.mit.edu 37 7 101892233 101892233 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:101892233C>A uc003uyx.3 + 24 4467 c.4429C>A c.(4429-4431)CGC>AGC p.R1477S CUX1_uc003uys.3_Missense_Mutation_p.R1488S|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 1477 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CAACCCCCTGCGCAAGAAGAA 0.701 PPP1R3A 5506 broad.mit.edu 37 7 113519938 113519938 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:113519938T>C uc010ljy.1 - 4 1240 c.1209A>G c.(1207-1209)CAA>CAG p.Q403Q NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 403 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CCTCTGAAGGTTGATGTGTAC 0.403 AHCYL2 23382 broad.mit.edu 37 7 129029550 129029550 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:129029550G>A uc011kov.1 + 4 749 c.695G>A c.(694-696)TGC>TAC p.C232Y AHCYL2_uc003vot.2_Missense_Mutation_p.C231Y|AHCYL2_uc003vov.2_Missense_Mutation_p.C129Y|AHCYL2_uc011kow.1_Missense_Mutation_p.C130Y|AHCYL2_uc011kox.1_Missense_Mutation_p.C129Y NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 232 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 ATCGTGGGTTGCACACACATC 0.348 SLC13A4 26266 broad.mit.edu 37 7 135384207 135384207 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:135384207G>A uc003vta.2 - 8 1490 c.801C>T c.(799-801)TGC>TGT p.C267C SLC13A4_uc003vtb.2_Silent_p.C268C NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 267 integral to plasma membrane sodium:sulfate symporter activity 0 TCAGGGAGAGGCACTTGCAGA 0.542 ATP6V0A4 50617 broad.mit.edu 37 7 138394386 138394386 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:138394386G>A uc003vuf.2 - 20 2650 c.2412C>T c.(2410-2412)CAC>CAT p.H804H ATP6V0A4_uc003vug.2_Silent_p.H804H|ATP6V0A4_uc003vuh.2_Silent_p.H804H NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 804 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 GTCGCAGGGCGTGCAGGAAAG 0.383 BRAF 673 broad.mit.edu 37 7 140500228 140500228 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:140500228G>A uc003vwc.3 - 7 975 c.914C>T c.(913-915)GCG>GTG p.A305V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 305 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TGCTAAGGACGCCTCTTCCTG 0.498 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome MLL3 58508 broad.mit.edu 37 7 151873581 151873581 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:151873581C>T uc003wla.2 - 38 9176 c.8957G>A c.(8956-8958)GGT>GAT p.G2986D MLL3_uc003wkz.2_Missense_Mutation_p.G2047D|MLL3_uc003wky.2_Missense_Mutation_p.G495D NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2986 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TACCTGCACACCCTGAGAAAA 0.473 N medulloblastoma NCAPG2 54892 broad.mit.edu 37 7 158444986 158444986 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:158444986C>T uc003wnv.1 - 23 3078 c.2933G>A c.(2932-2934)CGG>CAG p.R978Q NCAPG2_uc010lqu.1_Missense_Mutation_p.R770Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.R978Q|NCAPG2_uc011kwe.1_Missense_Mutation_p.R978Q|NCAPG2_uc011kwc.1_Missense_Mutation_p.R479Q|NCAPG2_uc011kwd.1_Missense_Mutation_p.R421Q NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 978 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TCTGAGTACCCGCAGGCCTTC 0.532 SOX7 83595 broad.mit.edu 37 8 10584155 10584155 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:10584155G>A uc003wtf.2 - 2 339 c.260C>T c.(259-261)ACG>ATG p.T87M SOX7_uc011kwz.1_Missense_Mutation_p.T139M|uc003wtg.1_5'Flank NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 87 HMG box. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) CTGGGACAGCGTCAGCGCCTT 0.552 HR 55806 broad.mit.edu 37 8 21980053 21980053 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:21980053A>G uc003xas.2 - 8 2739 c.2074T>C c.(2074-2076)TGC>CGC p.C692R HR_uc003xat.2_Missense_Mutation_p.C692R NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 692 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCAGCTTGGCAGGGGCAGTGC 0.637 REEP4 80346 broad.mit.edu 37 8 21996021 21996021 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:21996021C>T uc003xau.1 - 8 1206 c.753G>A c.(751-753)GTG>GTA p.V251V REEP4_uc010ltt.1_3'UTR NM_025232 NP_079508 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 251 integral to membrane skin(1) 1 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) CGTCTGAGGGCACAGTCTTTT 0.632 OREG0018606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RBPMS 11030 broad.mit.edu 37 8 30402104 30402104 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:30402104C>T uc003xic.1 + 6 1156 c.491C>T c.(490-492)CCT>CTT p.P164L RBPMS_uc003xid.1_Missense_Mutation_p.P164L|RBPMS_uc003xie.1_Missense_Mutation_p.P164L|RBPMS_uc003xif.1_RNA|RBPMS_uc011lba.1_Missense_Mutation_p.P164L|RBPMS_uc003xib.2_Missense_Mutation_p.P164L|RBPMS_uc010lvh.1_Missense_Mutation_p.P60L NM_006867 NP_006858 Q93062 RBPMS_HUMAN RNA-binding protein with multiple splicing 164 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) GCTCTACCTCCTCCTGCTTTC 0.557 PRKDC 5591 broad.mit.edu 37 8 48815306 48815306 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:48815306C>T uc003xqi.2 - 27 3149 c.3092G>A c.(3091-3093)CGG>CAG p.R1031Q PRKDC_uc003xqj.2_Missense_Mutation_p.R1031Q|PRKDC_uc011ldh.1_Missense_Mutation_p.R1031Q NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 1031 HEAT 2. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCGAATACACCGACCACAAAA 0.383 NHEJ MOS 4342 broad.mit.edu 37 8 57026480 57026480 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:57026480G>A uc011leb.1 - 1 62 c.62C>T c.(61-63)GCG>GTG p.A21V NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 21 ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCAGGGCCGCGCGTCCACCGA 0.706 CYP7B1 9420 broad.mit.edu 37 8 65528338 65528338 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:65528338A>C uc003xvj.2 - 3 964 c.760T>G c.(760-762)TTA>GTA p.L254V NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 254 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) ATCTTGGCTAACTTTTCTGAT 0.368 MSC 9242 broad.mit.edu 37 8 72756294 72756294 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:72756294C>T uc003xyx.1 - 1 438 c.120G>A c.(118-120)TCG>TCA p.S40S uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 40 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TGTCACTGGGCGAGGCGTAGC 0.711 ZFHX4 79776 broad.mit.edu 37 8 77775680 77775680 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:77775680C>T uc003yav.2 + 11 9982 c.9595C>T c.(9595-9597)CAG>TAG p.Q3199* NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3195 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TATTCAGTTGCAGGCATTACA 0.428 HNSCC(33;0.089) DCAF4L2 138009 broad.mit.edu 37 8 88885305 88885305 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:88885305A>C uc003ydz.2 - 1 992 c.895T>G c.(895-897)TTG>GTG p.L299V NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 299 WD 1. ovary(1) 1 GTGGCCCTCAAGTCCCACAGC 0.502 TP53INP1 94241 broad.mit.edu 37 8 95952350 95952350 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:95952350C>T uc003yhg.2 - 3 595 c.211G>A c.(211-213)GCA>ACA p.A71T C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.A71T NM_033285 NP_150601 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 71 apoptosis PML body 0 Breast(36;8.75e-07) TCAAGAGATGCCGGTAAACAG 0.473 GDF6 392255 broad.mit.edu 37 8 97172784 97172784 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:97172784C>T uc003yhp.2 - 1 237 c.137G>A c.(136-138)CGC>CAC p.R46H NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 46 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GCCTTCCTTGCGGCTTCGCAT 0.662 MTDH 92140 broad.mit.edu 37 8 98703359 98703359 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:98703359A>G uc003yhz.2 + 6 1319 c.991A>G c.(991-993)ACA>GCA p.T331A MTDH_uc010mbf.2_RNA NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN metadherin 331 Cytoplasmic (Potential). lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity liver(1)|central_nervous_system(1) 2 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AGATGCTAATACAAATGGAAA 0.413 TAF2 6873 broad.mit.edu 37 8 120844733 120844733 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:120844733C>T uc003you.2 - 1 342 c.72G>A c.(70-72)AGG>AGA p.R24R NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 24 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTATATGGCCTTGGGCTTT 0.458 GSDMC 56169 broad.mit.edu 37 8 130765066 130765066 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:130765066T>C uc003ysr.2 - 7 1604 c.722A>G c.(721-723)GAG>GGG p.E241G NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 241 mitochondrion ovary(2)|skin(1) 3 aatttcgtactcttgggagag 0 ADCY8 114 broad.mit.edu 37 8 132002705 132002705 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:132002705T>C uc003ytd.3 - 2 1300 c.1044A>G c.(1042-1044)CAA>CAG p.Q348Q ADCY8_uc010mds.2_Silent_p.Q348Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 348 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCAGGAAAGCTTGGCGCTGGG 0.517 HNSCC(32;0.087) TG 7038 broad.mit.edu 37 8 133894712 133894712 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:133894712A>G uc003ytw.2 + 7 787 c.746_splice c.e7-2 p.G249_splice NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCTTTGCTCAGGTTTGGAGT 0.468 KCNK9 51305 broad.mit.edu 37 8 140715170 140715170 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:140715170G>A uc003yvf.1 - 1 130 c.66C>T c.(64-66)GGC>GGT p.G22G KCNK9_uc003yvg.1_Silent_p.G22G NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 22 Helical; (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.G22G(1) ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ACACGGCGGCGCCCACCAGCA 0.632 EEF1D 1936 broad.mit.edu 37 8 144663432 144663432 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:144663432T>C uc011lki.1 - 4 525 c.256A>G c.(256-258)AGT>GGT p.S86G NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.S428G|EEF1D_uc003yyq.1_Missense_Mutation_p.S502G|EEF1D_uc011lkj.1_Missense_Mutation_p.S451G|EEF1D_uc003yyr.2_Missense_Mutation_p.S452G|EEF1D_uc003yyt.2_Missense_Mutation_p.S452G|EEF1D_uc011lkk.1_Missense_Mutation_p.S86G|EEF1D_uc003yys.2_Missense_Mutation_p.S86G|EEF1D_uc003yyv.2_Missense_Mutation_p.S62G|EEF1D_uc003yyu.2_Missense_Mutation_p.S86G|EEF1D_uc011lkl.1_Intron NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 86 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 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) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) ACTTCCAGACTGGCAATCCGG 0.697 PLEC 5339 broad.mit.edu 37 8 144990831 144990831 + Silent SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:144990831G>C uc003zaf.1 - 32 13739 c.13569C>G c.(13567-13569)CGC>CGG p.R4523R PLEC_uc003zab.1_Silent_p.R4386R|PLEC_uc003zac.1_Silent_p.R4390R|PLEC_uc003zad.2_Silent_p.R4386R|PLEC_uc003zae.1_Silent_p.R4354R|PLEC_uc003zag.1_Silent_p.R4364R|PLEC_uc003zah.2_Silent_p.R4372R|PLEC_uc003zaj.2_Silent_p.R4413R NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4523 Plectin 32.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTCCAGGAAGCGCTGGCCGG 0.701 PLEC 5339 broad.mit.edu 37 8 145003686 145003686 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:145003686G>A uc003zaf.1 - 24 3558 c.3388C>T c.(3388-3390)CGG>TGG p.R1130W PLEC_uc003zab.1_Missense_Mutation_p.R993W|PLEC_uc003zac.1_Missense_Mutation_p.R997W|PLEC_uc003zad.2_Missense_Mutation_p.R993W|PLEC_uc003zae.1_Missense_Mutation_p.R961W|PLEC_uc003zag.1_Missense_Mutation_p.R971W|PLEC_uc003zah.2_Missense_Mutation_p.R979W|PLEC_uc003zaj.2_Missense_Mutation_p.R1020W NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1130 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCTGCAGCCGGATGTCTTTG 0.677 LRRC14 9684 broad.mit.edu 37 8 145746833 145746833 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:145746833C>T uc003zdk.1 + 4 1599 c.1453C>T c.(1453-1455)CGA>TGA p.R485* LRRC14_uc003zdl.1_Nonsense_Mutation_p.R485*|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 485 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CATCTACGGGCGACTGGCTGC 0.587 MPDZ 8777 broad.mit.edu 37 9 13168535 13168535 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:13168535G>T uc010mia.1 - 21 3141 c.3084C>A c.(3082-3084)GGC>GGA p.G1028G MPDZ_uc003zkz.3_5'UTR|MPDZ_uc010mhy.2_Silent_p.G1028G|MPDZ_uc010mhz.2_Silent_p.G1028G|MPDZ_uc011lmn.1_Silent_p.G1028G|MPDZ_uc003zlb.3_Silent_p.G1028G NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1028 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TCATCCCCAAGCCATCTTTAT 0.328 CNTLN 54875 broad.mit.edu 37 9 17332676 17332676 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:17332676T>C uc003zmz.2 + 10 1618 c.1592T>C c.(1591-1593)CTG>CCG p.L531P CNTLN_uc003zmy.2_Missense_Mutation_p.L531P|CNTLN_uc010mio.2_Missense_Mutation_p.L210P NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 531 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CTACAGAAGCTGAGAAAAGCT 0.378 UNC13B 10497 broad.mit.edu 37 9 35295726 35295726 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:35295726G>A uc003zwq.2 + 8 852 c.560G>A c.(559-561)CGA>CAA p.R187Q UNC13B_uc010mkl.1_Missense_Mutation_p.R187Q|UNC13B_uc003zwr.2_Missense_Mutation_p.R187Q NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 187 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTCGATGACCGAGATAGTGAC 0.483 TESK1 7016 broad.mit.edu 37 9 35609504 35609504 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:35609504G>A uc003zxa.2 + 10 1982 c.1646G>A c.(1645-1647)CGG>CAG p.R549Q TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.R389Q NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 549 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCCTGGAGCGGACAGAACCC 0.697 ALDH1B1 219 broad.mit.edu 37 9 38395794 38395794 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:38395794G>A uc004aay.2 + 2 161 c.49G>A c.(49-51)GCC>ACC p.A17T NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 17 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GGGCAGGACCGCCCGCTACTC 0.587 AGTPBP1 23287 broad.mit.edu 37 9 88247586 88247586 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:88247586C>A uc011ltd.1 - 13 2039 c.2006G>T c.(2005-2007)GGT>GTT p.G669V AGTPBP1_uc004aod.3_Missense_Mutation_p.G295V|AGTPBP1_uc011ltc.1_Missense_Mutation_p.G567V|AGTPBP1_uc010mqc.2_Missense_Mutation_p.G629V|AGTPBP1_uc011lte.1_Missense_Mutation_p.G681V NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 669 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 CCTTTGTACACCATAAGGCCT 0.383 TSTD2 158427 broad.mit.edu 37 9 100367776 100367776 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:100367776G>T uc004axn.2 - 8 1590 c.1102C>A c.(1102-1104)CTC>ATC p.L368I TSTD2_uc004axo.2_Missense_Mutation_p.L142I|TSTD2_uc004axp.1_Missense_Mutation_p.L142I NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 368 Rhodanese. ovary(2) 2 TTGGCTTTGAGGTAGGCTGAA 0.582 CORO2A 7464 broad.mit.edu 37 9 100892136 100892136 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:100892136C>T uc004ayl.2 - 8 1173 c.907G>A c.(907-909)GAC>AAC p.D303N CORO2A_uc004aym.2_Missense_Mutation_p.D303N|CORO2A_uc004ayk.2_5'Flank NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 303 WD 5. actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) TGAGGCTTGTCGGCGCTCACC 0.398 TBC1D2 55357 broad.mit.edu 37 9 101014129 101014129 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:101014129G>A uc011lvb.1 - 2 629 c.449C>T c.(448-450)GCA>GTA p.A150V TBC1D2_uc004ayq.2_Missense_Mutation_p.A150V|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A150V NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 150 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) GGCAGGAGGTGCCGGCGGGCT 0.637 ACTL7B 10880 broad.mit.edu 37 9 111617137 111617137 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:111617137C>T uc004bdi.2 - 1 1139 c.1074G>A c.(1072-1074)GAG>GAA p.E358E NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 358 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 GGAGGCTCAGCTCCCTCTGGA 0.672 DFNB31 25861 broad.mit.edu 37 9 117168749 117168749 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:117168749G>A uc004biz.3 - 9 2771 c.2122C>T c.(2122-2124)CCC>TCC p.P708S DFNB31_uc004bix.2_Missense_Mutation_p.P357S|DFNB31_uc004biy.3_Missense_Mutation_p.P325S|DFNB31_uc004bja.3_Missense_Mutation_p.P708S NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 708 Pro-rich. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 TGGCCAGAGGGTGATGGGGGC 0.652 PAPPA 5069 broad.mit.edu 37 9 118974189 118974189 + Nonsense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:118974189C>G uc004bjn.2 + 4 2277 c.1896C>G c.(1894-1896)TAC>TAG p.Y632* PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 632 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ACACTCCTTACAACAACTTCA 0.512 DBC1 1620 broad.mit.edu 37 9 121929790 121929790 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:121929790G>A uc004bkc.2 - 8 2314 c.1858C>T c.(1858-1860)CGT>TGT p.R620C NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 620 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GTCCGACTACGTAGGTAGATG 0.537 OR5C1 392391 broad.mit.edu 37 9 125552005 125552005 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:125552005G>A uc011lzd.1 + 1 794 c.794G>A c.(793-795)CGC>CAC p.R265H NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 ATGTACCTGCGCCCCAGCTCC 0.592 LMX1B 4010 broad.mit.edu 37 9 129377719 129377719 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:129377719G>T uc004bqj.2 + 2 178 c.128G>T c.(127-129)CGC>CTC p.R43L LMX1B_uc004bqi.2_Missense_Mutation_p.R43L|LMX1B_uc011maa.1_Missense_Mutation_p.R43L NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 43 LIM zinc-binding 1. dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATCTCCGACCGCTTCCTGATG 0.692 Nail-Patella_Syndrome LMX1B 4010 broad.mit.edu 37 9 129458217 129458217 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:129458217G>A uc004bqj.2 + 7 967 c.917G>A c.(916-918)AGC>AAC p.S306N LMX1B_uc004bqi.2_Missense_Mutation_p.S306N|LMX1B_uc011maa.1_Missense_Mutation_p.S317N NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 306 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCCTACGGCAGCAGCGACCCC 0.672 Nail-Patella_Syndrome TOR2A 27433 broad.mit.edu 37 9 130495689 130495689 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:130495689G>A uc004brs.3 - 3 623 c.568C>T c.(568-570)CGC>TGC p.R190C TOR2A_uc004brt.3_Missense_Mutation_p.R190C|TOR2A_uc004brw.3_Missense_Mutation_p.R190C|TOR2A_uc011maj.1_3'UTR|TOR2A_uc004bru.3_Missense_Mutation_p.R28C|TOR2A_uc004brv.3_RNA|TOR2A_uc004brx.1_Missense_Mutation_p.R28C NM_001085347 NP_001078816 Q5JU69 TOR2A_HUMAN torsin family 2, member A isoform a 190 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity 0 ATGGCTTTGCGGTAATTGGTC 0.587 SH3GLB2 56904 broad.mit.edu 37 9 131771011 131771011 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:131771011G>A uc004bwv.2 - 11 1286 c.1140C>T c.(1138-1140)GGC>GGT p.G380G SH3GLB2_uc004bww.2_Silent_p.G389G|SH3GLB2_uc004bwx.1_Silent_p.G380G|SH3GLB2_uc011mbm.1_Silent_p.G389G NM_020145 NP_064530 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 380 SH3. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding 0 CCTTCTTGTTGCCTCTCTCGC 0.612 OREG0003926 type=REGULATORY REGION|Gene=SH3GLB2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay C9orf78 51759 broad.mit.edu 37 9 132591762 132591762 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:132591762G>A uc004byp.2 - 7 673 c.601C>T c.(601-603)CAG>TAG p.Q201* C9orf78_uc004byo.2_Nonsense_Mutation_p.Q126*|C9orf78_uc004byq.1_Nonsense_Mutation_p.Q147* NM_016520 NP_057604 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 201 0 Ovarian(14;0.00556) TTGTTCTGCTGCTCTGCCAGC 0.478 COL5A1 1289 broad.mit.edu 37 9 137681048 137681048 + Silent SNP C C T rs139394549 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:137681048C>T uc004cfe.2 + 32 3076 c.2694C>T c.(2692-2694)GGC>GGT p.G898G NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 898 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAGAGAAGGGCGGCAGGGTAA 0.572 FBXW5 54461 broad.mit.edu 37 9 139836005 139836005 + Missense_Mutation SNP G G T rs139795863 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:139836005G>T uc004cjx.2 - 7 1379 c.1228C>A c.(1228-1230)CTG>ATG p.L410M FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.L158M|FBXW5_uc004cjz.2_Missense_Mutation_p.L140M NM_018998 NP_061871 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 410 catalytic activity|protein binding 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TCGGGCGACAGGCCCATGCCG 0.682 COBRA1 25920 broad.mit.edu 37 9 140161524 140161524 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:140161524C>T uc004cmm.3 + 9 1427 c.1224C>T c.(1222-1224)CCC>CCT p.P408P NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 408 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) ACACACTTCCCGAAAGCTTCA 0.582 WDR85 92715 broad.mit.edu 37 9 140449886 140449886 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:140449886G>A uc004cnk.1 - 9 1322 c.1164C>T c.(1162-1164)GGC>GGT p.G388G WDR85_uc004cnj.1_Silent_p.G117G|WDR85_uc004cnl.1_Silent_p.G212G|WDR85_uc004cnm.1_Silent_p.G149G|WDR85_uc004cnn.1_Silent_p.G117G|WDR85_uc004cni.2_RNA NM_138778 NP_620133 Q9BTV6 WDR85_HUMAN WD repeat domain 85 388 peptidyl-diphthamide biosynthetic process from peptidyl-histidine 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509) GTCTGGCATGGCCCTCCCCAT 0.577 PHKA2 5256 broad.mit.edu 37 X 18912406 18912406 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:18912406C>T uc004cyv.3 - 32 3883 c.3453G>A c.(3451-3453)TCG>TCA p.S1151S uc004cyt.2_RNA|PHKA2_uc004cyu.3_Silent_p.S457S|PHKA2_uc010nfe.1_Silent_p.S183S|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1151 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TCTCCGTGTCCGAGAGCAGCG 0.617 KLHL34 257240 broad.mit.edu 37 X 21674117 21674117 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:21674117A>T uc004czz.1 - 1 2332 c.1790T>A c.(1789-1791)CTC>CAC p.L597H NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 597 Kelch 6. ovary(1) 1 GTCCAGGTCGAGGTCGTAGCC 0.701 POLA1 5422 broad.mit.edu 37 X 24745948 24745948 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:24745948G>A uc004dbl.2 + 15 1586 c.1563G>A c.(1561-1563)TTG>TTA p.L521L POLA1_uc004dbm.2_Silent_p.L527L|POLA1_uc004dbn.2_Silent_p.L385L NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 521 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) CAATGGCTTTGAAACCAGACC 0.403 FAM47A 158724 broad.mit.edu 37 X 34148626 34148626 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:34148626G>C uc004ddg.2 - 1 1803 c.1770C>G c.(1768-1770)AGC>AGG p.S590R NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 590 ovary(4)|central_nervous_system(1) 5 ACTCTTTTGTGCTTGGTGTAT 0.473 CXorf59 286464 broad.mit.edu 37 X 36122657 36122657 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:36122657T>C uc004ddk.1 + 8 1080 c.894T>C c.(892-894)AAT>AAC p.N298N NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 298 integral to membrane central_nervous_system(1) 1 GCAGCAATAATATGCCCCCCA 0.348 ZNF630 57232 broad.mit.edu 37 X 47919908 47919908 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:47919908T>G uc004div.3 - 4 411 c.159A>C c.(157-159)AAA>AAC p.K53N ZNF630_uc010nhz.1_RNA|ZNF630_uc004diw.2_5'UTR NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TTACATCTGGTTTTATACCTG 0.443 PQBP1 10084 broad.mit.edu 37 X 48759531 48759531 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:48759531G>A uc004dle.2 + 5 503 c.314G>A c.(313-315)CGG>CAG p.R105Q PQBP1_uc004dlf.2_Missense_Mutation_p.R105Q|PQBP1_uc004dlg.2_Missense_Mutation_p.R105Q|PQBP1_uc004dld.2_RNA|PQBP1_uc004dlh.2_Missense_Mutation_p.R105Q|PQBP1_uc004dli.2_Missense_Mutation_p.R105Q|PQBP1_uc004dlj.1_Missense_Mutation_p.R105Q|PQBP1_uc004dln.2_Missense_Mutation_p.R105Q|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.R63Q|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.R63Q|PQBP1_uc010nij.2_Intron NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 105 Potential.|5 X 7 AA approximate tandem repeats of D- R-[SG]-H-D-K-S.|1-1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 AAGTTGGACCGGAGCCATGAC 0.582 DGKK 139189 broad.mit.edu 37 X 50130606 50130606 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:50130606C>A uc010njr.1 - 14 2124 c.2064G>T c.(2062-2064)AAG>AAT p.K688N NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 688 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GACCCCAGGCCTTTACAATAT 0.413 RIBC1 158787 broad.mit.edu 37 X 53457857 53457857 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:53457857A>G uc004dsk.2 + 8 1214 c.1061A>G c.(1060-1062)CAG>CGG p.Q354R NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 isoform 1 354 0 TTTCACAGGCAGGATTACCTG 0.493 WNK3 65267 broad.mit.edu 37 X 54259313 54259313 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:54259313C>A uc004dtd.1 - 21 5067 c.4628G>T c.(4627-4629)AGA>ATA p.R1543I WNK3_uc004dtc.1_Missense_Mutation_p.R1590I NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1543 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TTTGAAAGATCTTGGTCGACG 0.438 FGD1 2245 broad.mit.edu 37 X 54521707 54521707 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:54521707G>A uc004dtg.2 - 1 893 c.159C>T c.(157-159)GGC>GGT p.G53G NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 53 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCAGTGGGCCGCCAAGAGCCG 0.731 ZXDB 158586 broad.mit.edu 37 X 57619559 57619559 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:57619559C>T uc004dvd.2 + 1 1291 c.1078C>T c.(1078-1080)CAG>TAG p.Q360* NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 360 Required for interaction with ZXDC (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 GGGCCATGAGCAGGAGAACTC 0.607 PHKA1 5255 broad.mit.edu 37 X 71915722 71915722 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:71915722T>C uc004eax.3 - 4 591 c.290A>G c.(289-291)GAT>GGT p.D97G PHKA1_uc004eay.3_Missense_Mutation_p.D97G|PHKA1_uc011mqi.1_Missense_Mutation_p.D97G NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 97 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) TTCTACTTTATCCACCTGAAA 0.363 APOOL 139322 broad.mit.edu 37 X 84258931 84258931 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:84258931A>G uc004eem.2 + 1 27 c.13A>G c.(13-15)AGG>GGG p.R5G APOOL_uc010nmp.2_RNA NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN apolipoprotein O-like precursor 5 extracellular region 0 GGCGGCCATCAGGGTAAGCGA 0.507 DACH2 117154 broad.mit.edu 37 X 85404009 85404009 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:85404009C>T uc004eew.2 + 1 555 c.385C>T c.(385-387)CGG>TGG p.R129W DACH2_uc004eex.2_Missense_Mutation_p.R129W|DACH2_uc010nmq.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 129 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 TGAGCAGGTCCGGATCCTCCG 0.547 KLHL4 56062 broad.mit.edu 37 X 86887421 86887421 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:86887421T>C uc004efb.2 + 7 1718 c.1536T>C c.(1534-1536)CAT>CAC p.H512H KLHL4_uc004efa.2_Silent_p.H512H NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 512 Kelch 2. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGTCAACACATCGGCACGGCT 0.368 GPRASP2 114928 broad.mit.edu 37 X 101969939 101969939 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:101969939G>A uc004ejk.2 + 4 1476 c.142G>A c.(142-144)GCA>ACA p.A48T GPRASP2_uc004ejl.2_Missense_Mutation_p.A48T|GPRASP2_uc004ejm.2_Missense_Mutation_p.A48T|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 48 cytoplasm protein binding ovary(1) 1 AACTACTGGGGCAAGGCCCAA 0.552 NXF3 56000 broad.mit.edu 37 X 102335077 102335077 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:102335077T>C uc004eju.2 - 11 1066 c.995A>G c.(994-996)AAG>AGG p.K332R NXF3_uc010noi.1_Missense_Mutation_p.K182R NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 332 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 TCTTCTCACCTTACAGGTTGG 0.527 TSC22D3 1831 broad.mit.edu 37 X 107018613 107018613 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:107018613C>T uc004enh.2 - 1 405 c.37G>A c.(37-39)GGC>AGC p.G13S TSC22D3_uc004eni.2_Missense_Mutation_p.G13S|TSC22D3_uc004enj.2_Missense_Mutation_p.G13S NM_198057 NP_932174 Q99576 T22D3_HUMAN TSC22 domain family, member 3 isoform 1 Error:Variant_position_missing_in_Q99576_after_alignment sequence-specific DNA binding transcription factor activity 0 CAGTCGAGGCCGACAGGTGAG 0.687 COL4A6 1288 broad.mit.edu 37 X 107417676 107417676 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:107417676T>C uc004enw.3 - 31 3238 c.3135A>G c.(3133-3135)GGA>GGG p.G1045G COL4A6_uc004env.3_Silent_p.G1044G|COL4A6_uc011msn.1_Silent_p.G1044G|COL4A6_uc010npk.2_Silent_p.G1044G NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1045 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TTACACTTTCTCCTGGCATTC 0.517 Alport_syndrome_with_Diffuse_Leiomyomatosis RGAG1 57529 broad.mit.edu 37 X 109694416 109694416 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:109694416T>C uc004eor.1 + 3 817 c.571T>C c.(571-573)TCC>CCC p.S191P RGAG1_uc011msr.1_Missense_Mutation_p.S191P NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 191 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGAGGCAATGTCCACACCATT 0.483 PLS3 5358 broad.mit.edu 37 X 114883835 114883835 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:114883835T>C uc004eqd.2 + 16 2237 c.1847T>C c.(1846-1848)ATG>ACG p.M616T PLS3_uc011mtf.1_Missense_Mutation_p.M603T|PLS3_uc004eqe.2_Missense_Mutation_p.M616T|PLS3_uc011mtg.1_Missense_Mutation_p.M589T|PLS3_uc011mth.1_Missense_Mutation_p.M571T|PLS3_uc011mti.1_Missense_Mutation_p.M292T|PLS3_uc011mtj.1_Missense_Mutation_p.M210T|PLS3_uc011mtk.1_Missense_Mutation_p.M277T|PLS3_uc011mtl.1_RNA NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 616 CH 4.|Actin-binding 2. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 AAGATGGTCATGACTGTGTTT 0.463 CXorf56 63932 broad.mit.edu 37 X 118699280 118699280 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:118699280G>C uc004erk.1 - 1 85 c.39C>G c.(37-39)GAC>GAG p.D13E CXorf56_uc004erj.1_5'UTR|CXorf56_uc011mtu.1_Missense_Mutation_p.D13E NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 13 protein binding 0 GGTCCCGAGTGTCAGAGCAGA 0.547 ATP1B4 23439 broad.mit.edu 37 X 119504684 119504684 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:119504684G>T uc004esr.2 + 3 527 c.443G>T c.(442-444)CGG>CTG p.R148L ATP1B4_uc004esq.2_Missense_Mutation_p.R144L|ATP1B4_uc011mtx.1_Missense_Mutation_p.R113L|ATP1B4_uc011mty.1_Intron NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 148 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 TTCACGGAGCGGGTAAAGCCT 0.478 DCAF12L1 139170 broad.mit.edu 37 X 125686358 125686358 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:125686358G>A uc004eul.2 - 1 485 c.234C>T c.(232-234)TAC>TAT p.Y78Y NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 78 skin(3)|ovary(1) 4 TCTGTACCGCGTAGCCCCGCA 0.672 ACTRT1 139741 broad.mit.edu 37 X 127185759 127185759 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:127185759C>T uc004eum.2 - 1 624 c.427G>A c.(427-429)GCA>ACA p.A143T NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 143 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 TAGAGCGCTGCCACCGCATGA 0.527 HS6ST2 90161 broad.mit.edu 37 X 132092270 132092270 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:132092270C>T uc011mve.1 - 2 777 c.361G>A c.(361-363)GCC>ACC p.A121T HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mvd.1_Missense_Mutation_p.A121T NM_147175 NP_671704 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 isoform 121 Lumenal (Potential). integral to membrane sulfotransferase activity 0 Acute lymphoblastic leukemia(192;0.000127) TGGCCCAGGGCGGCCAGGCCC 0.701 SLITRK2 84631 broad.mit.edu 37 X 144904206 144904206 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:144904206C>T uc004fcd.2 + 5 1253 c.263C>T c.(262-264)GCG>GTG p.A88V SLITRK2_uc010nsp.2_Missense_Mutation_p.A88V|SLITRK2_uc010nso.2_Missense_Mutation_p.A88V|SLITRK2_uc011mwq.1_Missense_Mutation_p.A88V|SLITRK2_uc011mwr.1_Missense_Mutation_p.A88V|SLITRK2_uc011mws.1_Missense_Mutation_p.A88V|SLITRK2_uc004fcg.2_Missense_Mutation_p.A88V|SLITRK2_uc011mwt.1_Missense_Mutation_p.A88V NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 88 Extracellular (Potential).|LRR 2. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TACTCCAACGCGGTGACTCTT 0.473 FMR1 2332 broad.mit.edu 37 X 147010315 147010315 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:147010315T>C uc010nst.2 + 5 598 c.409T>C c.(409-411)TTA>CTA p.L137L FMR1_uc011mwz.1_Silent_p.L137L|FMR1_uc004fcj.2_Silent_p.L137L|FMR1_uc004fck.3_Silent_p.L137L|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 137 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGAAGACTTACGGCAAAT 0.333 Fragile_X_syndrome AFF2 2334 broad.mit.edu 37 X 148037360 148037360 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:148037360A>G uc004fcp.2 + 11 2264 c.1785A>G c.(1783-1785)AAA>AAG p.K595K AFF2_uc004fcq.2_Silent_p.K585K|AFF2_uc004fcr.2_Silent_p.K556K|AFF2_uc011mxb.1_Silent_p.K560K|AFF2_uc004fcs.2_Silent_p.K562K|AFF2_uc011mxc.1_Silent_p.K236K NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 595 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TTAGGGAGAAAGCCCGTCCAC 0.468 MAGEA12 4111 broad.mit.edu 37 X 151900005 151900005 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:151900005G>A uc010ntp.2 - 3 1150 c.796C>T c.(796-798)CCT>TCT p.P266S MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.P266S NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 266 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) TAGCATGCAGGATCACTGCCG 0.552 ATP2B3 492 broad.mit.edu 37 X 152818542 152818542 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:152818542C>T uc004fht.1 + 11 1999 c.1873C>T c.(1873-1875)CGG>TGG p.R625W ATP2B3_uc004fhs.1_Missense_Mutation_p.R625W NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 625 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTTCGGCCTCGGGACCGGGA 0.612 PNCK 139728 broad.mit.edu 37 X 152938109 152938109 + Missense_Mutation SNP C C T rs144452893 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:152938109C>T uc011myu.1 - 3 547 c.361G>A c.(361-363)GCA>ACA p.A121T PNCK_uc011myt.1_Missense_Mutation_p.A55T|PNCK_uc004fia.2_Missense_Mutation_p.A50T|PNCK_uc004fhz.3_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.A121T|PNCK_uc011myv.1_Missense_Mutation_p.A65T|PNCK_uc011myw.1_Missense_Mutation_p.A65T NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN pregnancy upregulated non-ubiquitously expressed 38 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) ACGAGGTGTGCGGAGCCCCGC 0.532 PLXNA3 55558 broad.mit.edu 37 X 153698447 153698447 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:153698447C>T uc004flm.2 + 29 5096 c.4923C>T c.(4921-4923)CGC>CGT p.R1641R NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1641 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCGACCATCGCGAGGGGGACC 0.622 F8 2157 broad.mit.edu 37 X 154128211 154128211 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:154128211T>C uc004fmt.2 - 21 6374 c.6203A>G c.(6202-6204)AAG>AGG p.K2068R F8_uc010nvi.1_Intron NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2068 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCTGGCCAGCTTTGGGGCCCA 0.418 F8 2157 broad.mit.edu 37 X 154194366 154194366 + Missense_Mutation SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:154194366T>A uc004fmt.2 - 9 1493 c.1322A>T c.(1321-1323)AAG>ATG p.K441M NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 441 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTTTTTGTACTTCCTACCAAT 0.373 FUNDC2 65991 broad.mit.edu 37 X 154261743 154261743 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:154261743C>T uc004fmw.2 + 2 349 c.199C>T c.(199-201)CGT>TGT p.R67C NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 67 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCATGGTGGCGTAAGCTGTT 0.433 EIF4G3 8672 broad.mit.edu 37 1 21268826 21268827 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:21268825_21268826T>TG uc001bec.3 - 9 912 c.656_splice c.e9-1 p.E219_splice EIF4G3_uc010odi.2_Splice_Site|EIF4G3_uc010odj.2_Splice_Site_p.E218_splice|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Splice_Site_p.E218_splice|EIF4G3_uc001bee.3_Splice_Site_p.E225_splice|EIF4G3_uc001beg.3_Splice_Site_p.E218_splice|EIF4G3_uc010odk.2_Splice_Site_p.E219_splice|EIF4G3_uc001beh.3_Splice_Site_p.E230_splice NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 219 RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GCTTCTCCTCTGGGGAAAAAAA 0.411 VPS45 11311 broad.mit.edu 37 1 150044232 150044233 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:150044231_150044232A>AG uc001etp.3 + 3 802 c.229_splice c.e3-1 p.E77_splice VPS45_uc010pbp.1_Splice_Site|VPS45_uc010pbq.2_Splice_Site_p.E41_splice|VPS45_uc010pbs.2_Splice_Site_p.E41_splice|VPS45_uc009wlm.1_Splice_Site_p.E77_splice|VPS45_uc010pbr.1_Splice_Site_p.E41_splice NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA. 77 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis Golgi membrane|endosome membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCATTTTCTAGGAGAATGTGG 0.322 PSME4 23198 broad.mit.edu 37 2 54167140 54167141 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:54167139_54167140T>TG uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.?(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAAA 0.347 USP34 9736 broad.mit.edu 37 2 61577527 61577527 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:61577526_61577526TA>T uc002sbe.3 - 12 1400 c.1378_splice c.e12-1 p.T460_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 460 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTACAGTGTCTAAAAAAAAGA 0.338 APEH 327 broad.mit.edu 37 3 49719319 49719319 + Splice_Site DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:49719318_49719318AG>A uc010hkw.1 + 17 1923 c.1523_splice c.e17-2 p.G508_splice APEH_uc003cxf.3_Splice_Site_p.G508_splice NM_001640 NP_001631 P13798 ACPH_HUMAN Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA. 508 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCTGTCTGCAGGGGGGCCCC 0.607 PLAC8 51316 broad.mit.edu 37 4 84026050 84026050 + Splice_Site DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:84026049_84026049AG>A uc003hoe.3 - 3 404 c.243_splice c.e3+1 p.P81_splice PLAC8_uc011cco.2_Splice_Site_p.P81_splice|PLAC8_uc010ijy.3_Splice_Site|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Splice_Site_p.P81_splice NM_001130716 NP_057703 Q9NZF1 PLAC8_HUMAN Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA. 81 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) AGAGACTCACAGGGATGCCAT 0.418 ITGA2 3673 broad.mit.edu 37 5 52351982 52351982 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:52351981_52351981TA>T uc003joy.3 + 9 1239 c.1096_splice c.e9+2 p.G366_splice ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.G290_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site NM_002203 NP_002194 P17301 ITA2_HUMAN Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA. 366 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GCATTGAAGGTAAAAAAAATA 0.294 IBTK 25998 broad.mit.edu 37 6 82933340 82933340 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:82933339_82933339TA>T uc003pjl.1 - 8 1471 c.944_splice c.e8-1 p.G315_splice IBTK_uc011dyv.1_Splice_Site_p.G315_splice|IBTK_uc011dyw.1_Splice_Site_p.G315_splice|IBTK_uc010kbi.1_Splice_Site_p.G9_splice|IBTK_uc003pjm.2_Splice_Site_p.G315_splice NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA. 315 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GCAAACAACCTAAAAAATGAT 0.423 PDE10A 10846 broad.mit.edu 37 6 165844963 165844963 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:165844962_165844962TA>T uc003qun.3 - 9 909 c.664_splice c.e9-1 p.V222_splice PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 222 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGTTGCAACCTAAAAAAAACA 0.328 COL5A1 1289 broad.mit.edu 37 9 137642390 137642390 + Splice_Site DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:137642389_137642389GC>G uc004cfe.3 + 12 1877 c.1495_splice c.e12-1 p.G499_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 499 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGTCTTCAGGGCCCCCCTGGA 0.662 DDX6 1656 broad.mit.edu 37 11 118629614 118629615 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:118629613_118629614T>TG uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL R3HDM2 22864 broad.mit.edu 37 12 57652675 57652675 + Splice_Site DEL G G - rs140435515 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:57652674_57652674TG>T uc009zpm.1 - 18 2294 c.2259_splice c.e18+1 p.Q753_splice R3HDM2_uc010srn.1_Splice_Site|R3HDM2_uc001snu.2_Splice_Site_p.Q448_splice|R3HDM2_uc001snr.2_Splice_Site_p.Q480_splice|R3HDM2_uc001sns.2_Splice_Site_p.Q753_splice|R3HDM2_uc001snt.2_Splice_Site_p.Q767_splice NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 753 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGCACTCACCTGGGGGCTGCT 0.537 FAH 2184 broad.mit.edu 37 15 80464493 80464493 + Splice_Site DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:80464492_80464492CT>C uc002bfm.2 + 8 771 c.607_splice c.e8-1 p.A203_splice FAH_uc002bfn.2_Splice_Site_p.A133_splice NM_000137 NP_000128 P16930 FAAA_HUMAN Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA. 203 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCATGTAAGGCTTTTTTTGTA 0.498 Tyrosinemia, type 1 KIAA0100 9703 broad.mit.edu 37 17 26966334 26966334 + Splice_Site DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:26966333_26966333CT>C uc002hbu.3 - 11 1332 c.1229_splice c.e11+1 p.R410_splice KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 410 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TCAGACTGACCTTTTTTTCCT 0.433 ITGA3 3675 broad.mit.edu 37 17 48154743 48154744 + Splice_Site INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:48154742_48154743G>GC uc010dbm.3 + 16 2535 c.2071_splice c.e16-1 p.P691_splice ITGA3_uc010dbl.3_Splice_Site_p.P691_splice NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 691 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TCTTTCCTCAGCCCGGGGCCTG 0.589 ARID1A 8289 broad.mit.edu 37 1 27088682 27088682 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:27088682delC uc001bmv.1 + 7 2664 c.2291delC c.(2290-2292)TCCfs p.S764fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S764fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S381fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 764 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q766fs*67(1)|p.Q766fs*51(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGTACAGTTCCCCCCAGCCC 0.522 Mis|N|F|S|D clear cell ovarian carcinoma|RCC MYCL1 4610 broad.mit.edu 37 1 40366987 40366987 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:40366987delG uc001cer.1 - 2 337 c.120delC c.(118-120)CCCfs p.P40fs MYCL1_uc001ces.1_Frame_Shift_Del_p.P40fs|MYCL1_uc001cet.1_Frame_Shift_Del_p.P40fs NM_001033082 NP_001028254 P12524 MYCL1_HUMAN l-myc-1 proto-oncogene isoform 1 40 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|liver(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCGGCGACGTGGGGGGCGATG 0.687 A small cell lung DBT 1629 broad.mit.edu 37 1 100696362 100696362 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:100696362delT uc001dta.2 - 4 393 c.360delA c.(358-360)AAAfs p.K120fs DBT_uc010oug.1_5'UTR NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 120 Lipoyl-binding. branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TATAATAGAGTTTTTTAATGA 0.343 SOAT1 6646 broad.mit.edu 37 1 179304653 179304653 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:179304653delT uc001gml.2 + 4 253 c.190delT c.(190-192)TTTfs p.F64fs SOAT1_uc010pni.1_5'UTR|SOAT1_uc001gmm.2_Frame_Shift_Del_p.F6fs|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_5'UTR NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 64 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) ATTGAAGCCATTTTTTATGAA 0.373 CEP350 9857 broad.mit.edu 37 1 180063485 180063486 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:180063485_180063486insA uc001gnt.2 + 34 8628_8629 c.8245_8246insA c.(8245-8247)GAAfs p.E2749fs CEP350_uc009wxl.2_Frame_Shift_Ins_p.E2748fs|CEP350_uc001gnv.2_Frame_Shift_Ins_p.E884fs|CEP350_uc001gnw.1_Frame_Shift_Ins_p.E506fs|CEP350_uc001gnx.1_Frame_Shift_Ins_p.E506fs NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2749 Potential. centrosome|nucleus|spindle ovary(4) 4 ACAACAACTGGAAAAAATCAGC 0.356 DENND5A 23258 broad.mit.edu 37 11 9167317 9167317 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:9167317delC uc001mhl.2 - 17 3158 c.2903delG c.(2902-2904)GGCfs p.G968fs DENND5A_uc001mhk.2_Frame_Shift_Del_p.G311fs|DENND5A_uc010rbw.1_Frame_Shift_Del_p.G968fs|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 968 PLAT. liver(1) 1 GAACATGGAGCCCCCCAGCTT 0.478 ROBO4 54538 broad.mit.edu 37 11 124756593 124756593 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:124756593delC uc001qbg.2 - 16 2701 c.2561delG c.(2560-2562)GGAfs p.G854fs ROBO4_uc010sas.1_Frame_Shift_Del_p.G709fs|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Frame_Shift_Del_p.G412fs NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 854 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CAGCAAGACTCCCCCCTTGGG 0.662 LARP4 113251 broad.mit.edu 37 12 50848191 50848191 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:50848191delA uc001rwp.1 + 10 1256 c.1112delA c.(1111-1113)CAAfs p.Q371fs LARP4_uc001rwo.1_Frame_Shift_Del_p.Q377fs|LARP4_uc001rwq.1_Frame_Shift_Del_p.Q300fs|LARP4_uc001rwr.1_Frame_Shift_Del_p.Q371fs|LARP4_uc001rws.1_Frame_Shift_Del_p.Q370fs|LARP4_uc009zlr.1_Frame_Shift_Del_p.Q190fs|LARP4_uc001rwt.1_Frame_Shift_Del_p.Q33fs|LARP4_uc001rwm.2_Frame_Shift_Del_p.Q371fs|LARP4_uc001rwn.2_Frame_Shift_Del_p.Q301fs NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 371 nucleotide binding|RNA binding ovary(1) 1 CGACCATTCCAAAAAAATCGG 0.358 ITGA7 3679 broad.mit.edu 37 12 56078934 56078934 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:56078934delG uc001shh.2 - 25 3554 c.3334delC c.(3334-3336)CGGfs p.R1112fs ITGA7_uc001shg.2_Frame_Shift_Del_p.R1108fs|ITGA7_uc010sps.1_Frame_Shift_Del_p.R1015fs|ITGA7_uc001shf.2_3'UTR|ITGA7_uc009znw.2_Frame_Shift_Del_p.R355fs|ITGA7_uc009znx.2_Frame_Shift_Del_p.R989fs NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1152 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CCCTCCCGCCGGGGGCTGCCC 0.667 APPL2 55198 broad.mit.edu 37 12 105589059 105589059 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:105589059delT uc001tlf.1 - 14 1439 c.1221delA c.(1219-1221)AAAfs p.K407fs APPL2_uc010swt.1_Frame_Shift_Del_p.K364fs|APPL2_uc001tlg.1_Frame_Shift_Del_p.K161fs|APPL2_uc010swu.1_Frame_Shift_Del_p.K413fs|APPL2_uc009zuq.2_Frame_Shift_Del_p.K364fs NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 407 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 AGCTTTCTTGTTTTTTTCCAA 0.408 AKAP11 11215 broad.mit.edu 37 13 42874486 42874486 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:42874486delA uc001uys.1 + 8 1779 c.1604delA c.(1603-1605)CAAfs p.Q535fs NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 535 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AACCTTGATCAAAAAAATAAA 0.289 CATSPERB 79820 broad.mit.edu 37 14 92058236 92058236 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:92058236delT uc001xzs.1 - 23 2960 c.2820delA c.(2818-2820)AAAfs p.K940fs CATSPERB_uc010aub.1_Frame_Shift_Del_p.K462fs NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 940 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATGATCTTACTTTTTCCCTGC 0.348 INF2 64423 broad.mit.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:105174185delC uc001ypb.2 + 8 1724 c.1581delC c.(1579-1581)AGCfs p.S527fs INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 527 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GCACCTGCAGCCCCCCCGTGG 0.562 CYLD 1540 broad.mit.edu 37 16 50826572 50826572 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:50826572delT uc002egp.1 + 16 2721 c.2306delT c.(2305-2307)ATTfs p.I769fs CYLD_uc010cbs.1_Frame_Shift_Del_p.I766fs|CYLD_uc002egq.1_Frame_Shift_Del_p.I766fs|CYLD_uc002egr.1_Frame_Shift_Del_p.I766fs NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 769 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.I769fs*7(1) skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TTTAAAAAAATTTTTCCTTCT 0.274 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial ZC3H18 124245 broad.mit.edu 37 16 88666204 88666204 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:88666204delA uc002fky.2 + 6 1136 c.936delA c.(934-936)TTAfs p.L312fs ZC3H18_uc010voy.1_Frame_Shift_Del_p.L195fs|ZC3H18_uc010voz.1_Frame_Shift_Del_p.L336fs NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 312 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GGTAGGTTTTAAAAAAAGCAA 0.448 C17orf75 64149 broad.mit.edu 37 17 30665238 30665238 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:30665238delT uc002hhg.2 - 4 511 c.480delA c.(478-480)AAAfs p.K160fs NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 160 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GCTCAAGTCCTTTTTCAGACC 0.393 HOXB3 3213 broad.mit.edu 37 17 46627925 46627925 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:46627925delC uc002inn.2 - 2 1467 c.1067delG c.(1066-1068)GGCfs p.G356fs HOXB3_uc010wlm.1_Frame_Shift_Del_p.G283fs|HOXB3_uc010dbf.2_Frame_Shift_Del_p.G356fs|HOXB3_uc010dbg.2_Frame_Shift_Del_p.G356fs|HOXB3_uc002ino.2_Frame_Shift_Del_p.G356fs|HOXB3_uc010wlk.1_Frame_Shift_Del_p.G224fs|HOXB3_uc010wll.1_Frame_Shift_Del_p.G283fs NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 356 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGCGTAGCCGCCCCCGCCCAC 0.716 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AXIN2 8313 broad.mit.edu 37 17 63532568 63532568 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:63532568delG uc002jfi.2 - 8 2300 c.2011delC c.(2011-2013)CGCfs p.R671fs AXIN2_uc002jfh.2_Frame_Shift_Del_p.R606fs NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 671 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 GGGGTGGTGCGGGGGTGCCCG 0.682 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome CCDC46 201134 broad.mit.edu 37 17 64059082 64059082 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:64059082delT uc002jfl.2 - 11 1292 c.1073delA c.(1072-1074)AAGfs p.K358fs CCDC46_uc010deo.2_Frame_Shift_Del_p.K100fs|CCDC46_uc002jfm.2_Frame_Shift_Del_p.K358fs|CCDC46_uc010dep.2_Frame_Shift_Del_p.K316fs NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 358 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) GTAGCTTACCTTTTTTTCCCA 0.294 C18orf34 374864 broad.mit.edu 37 18 30873148 30873148 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr18:30873148delT uc002kxn.2 - 11 1293 c.1151delA c.(1150-1152)AATfs p.N384fs C18orf34_uc010xbr.1_Frame_Shift_Del_p.N384fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Del_p.N384fs|C18orf34_uc002kxp.2_Frame_Shift_Del_p.N384fs NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 384 Potential. ovary(1) 1 ATGTAATTCATTTTTTGATGA 0.259 ZNF564 163050 broad.mit.edu 37 19 12637603 12637604 + Frame_Shift_Del DEL AT AT - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:12637603_12637604delAT uc002mty.2 - 4 1528_1529 c.1318_1319delAT c.(1318-1320)ATGfs p.M440fs ZNF709_uc002mtx.3_Intron NM_144976 NP_659413 Q8TBZ8 ZN564_HUMAN zinc finger protein 564 440 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTGCAGTATCATATGTTTTCTA 0.391 ZNF784 147808 broad.mit.edu 37 19 56133713 56133713 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:56133713delC uc002qll.1 - 2 390 c.376delG c.(376-378)GAGfs p.E126fs ZNF784_uc010etb.1_RNA NM_203374 NP_976308 Q8NCA9 ZN784_HUMAN zinc finger protein 784 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TAGGGCCGCTCCCCCGTGTGC 0.776 TTC31 64427 broad.mit.edu 37 2 74718259 74718259 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:74718259delA uc002slt.2 + 6 574 c.551delA c.(550-552)CAAfs p.Q184fs TTC31_uc002sls.2_Frame_Shift_Del_p.Q113fs|TTC31_uc010yrv.1_Frame_Shift_Del_p.Q40fs|TTC31_uc002slu.2_Frame_Shift_Del_p.Q40fs NM_022492 NP_071937 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 184 Potential. binding 0 TTGCAGCGTCAAAAGGAACGG 0.308 SEMA4C 54910 broad.mit.edu 37 2 97526589 97526589 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:97526589delG uc002sxh.3 - 15 2436 c.2276delC c.(2275-2277)CCTfs p.P759fs ANKRD39_uc002sxd.3_5'Flank|SEMA4C_uc002sxf.3_Frame_Shift_Del_p.P259fs|SEMA4C_uc002sxe.2_Frame_Shift_Del_p.P300fs|SEMA4C_uc002sxg.3_Frame_Shift_Del_p.P812fs NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN semaphorin 4C precursor 759 Pro-rich.|Cytoplasmic (Potential). 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 AGGTGGCGAAGGGGGCCCCCC 0.597 ADM2 79924 broad.mit.edu 37 22 50921041 50921041 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:50921041delC uc003blj.2 + 2 421 c.156delC c.(154-156)CACfs p.H52fs ADM2_uc011ary.1_Frame_Shift_Del_p.H52fs NM_024866 NP_079142 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 precursor 52 positive regulation of angiogenesis extracellular region hormone activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGCCCAGGCACCCCGCACCCC 0.662 ZBTB47 92999 broad.mit.edu 37 3 42705882 42705884 + In_Frame_Del DEL AGG AGG - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:42705882_42705884delAGG uc003clu.1 + 5 1010_1012 c.908_910delAGG c.(907-912)AAGGAG>AAG p.E304del NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN zinc finger protein 651 304 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.216) AAGGCCCACAAGGAGAAGTGCTT 0.468 ZBTB20 26137 broad.mit.edu 37 3 114057967 114057967 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:114057967delG uc003ebi.2 - 5 2291 c.2111delC c.(2110-2112)CCAfs p.P704fs ZBTB20_uc003ebj.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc010hqp.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebk.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebl.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebm.2_Frame_Shift_Del_p.P631fs|ZBTB20_uc003ebn.2_Frame_Shift_Del_p.P631fs NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 704 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CACCACGCCTGGGGGGCCAGC 0.637 ATP13A5 344905 broad.mit.edu 37 3 193028483 193028483 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:193028483delA uc011bsq.1 - 21 2469 c.2469delT c.(2467-2469)TTTfs p.F823fs NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 823 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACATTCTTGCAAAAACTGTTC 0.338 RNF168 165918 broad.mit.edu 37 3 196199236 196199237 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:196199236_196199237insT uc003fwq.2 - 6 1707_1708 c.1169_1170insA c.(1168-1170)AACfs p.N390fs RNF168_uc010iah.2_Frame_Shift_Ins_p.N223fs|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 390 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AAGATTCTTGGTTTTTTCTTTT 0.421 RUFY3 22902 broad.mit.edu 37 4 71660543 71660546 + Frame_Shift_Del DEL AAAG AAAG - rs148897085 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:71660543_71660546delAAAG uc003hfr.2 + 14 2084_2087 c.1489_1492delAAAG c.(1489-1494)AAAGAAfs p.K497fs RUFY3_uc011cay.1_Frame_Shift_Del_p.K433fs NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 1 332_Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) AAAACAGGAAAAAGAAAGAAGATT 0.373 ODZ3 55714 broad.mit.edu 37 4 183673077 183673077 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:183673077delA uc003ivd.1 + 19 3791 c.3754delA c.(3754-3756)AAAfs p.K1252fs ODZ3_uc003ive.1_Frame_Shift_Del_p.K665fs NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1252 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGACTTGACTAAAAATGCAGA 0.537 MIER3 166968 broad.mit.edu 37 5 56233480 56233481 + Frame_Shift_Del DEL GA GA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:56233480_56233481delGA uc003jrd.1 - 5 385_386 c.360_361delTC c.(358-363)ACTCAGfs p.T120fs MIER3_uc003jqz.1_Frame_Shift_Del_p.T57fs|MIER3_uc003jra.1_Frame_Shift_Del_p.T120fs|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Frame_Shift_Del_p.T125fs NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 120_121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GCAGAAGACTGAGTTTCCTCGT 0.416 ATXN1 6310 broad.mit.edu 37 6 16328093 16328093 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:16328093delG uc003nbt.2 - 8 1420 c.449delC c.(448-450)CCAfs p.P150fs ATXN1_uc010jpi.2_Frame_Shift_Del_p.P150fs|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 150 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GTTGGCGGTTGGGGGGATCAG 0.632 KIF13A 63971 broad.mit.edu 37 6 17788022 17788023 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:17788022_17788023insT uc003ncg.3 - 27 3450_3451 c.3345_3346insA c.(3343-3348)AAAGTCfs p.K1115fs KIF13A_uc003ncf.2_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.3_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.3_Frame_Shift_Ins_p.K1102fs NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1115_1116 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATTGCTGACTTTTTTTATCT 0.416 TAP1 6890 broad.mit.edu 37 6 32821048 32821048 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:32821048delG uc003ocg.2 - 1 701 c.546delC c.(544-546)CCCfs p.P182fs TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 182 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 CCGCGGACCCGGGGGCTCCCC 0.647 BAI3 577 broad.mit.edu 37 6 69348994 69348994 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:69348994delA uc003pev.3 + 3 875 c.427delA c.(427-429)AAAfs p.K143fs BAI3_uc010kak.2_Frame_Shift_Del_p.K143fs NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 143 CUB.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AGGATTACAGAAAAAAGGGGA 0.353 C7orf63 79846 broad.mit.edu 37 7 89939466 89939466 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:89939466delA uc010lep.2 + 23 2991 c.2740delA c.(2740-2742)AAAfs p.K914fs C7orf63_uc011khj.1_Frame_Shift_Del_p.K896fs|C7orf63_uc011khk.1_Frame_Shift_Del_p.K430fs NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 914 binding ovary(1) 1 TATTGCTCTTAAAAAACTGCC 0.448 DENND2A 27147 broad.mit.edu 37 7 140273783 140273783 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:140273783delA uc010lnj.2 - 4 1416 c.1271delT c.(1270-1272)TTCfs p.F424fs DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Frame_Shift_Del_p.F424fs|DENND2A_uc003vvw.2_Frame_Shift_Del_p.F424fs|DENND2A_uc003vvx.2_Frame_Shift_Del_p.F424fs NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 424 ovary(3)|breast(1) 4 Melanoma(164;0.00956) ATTTTGTCGGAAAAAAGCAGG 0.493 PRKDC 5591 broad.mit.edu 37 8 48845618 48845618 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:48845618delC uc003xqi.2 - 16 1795 c.1738delG c.(1738-1740)GATfs p.D580fs PRKDC_uc003xqj.2_Frame_Shift_Del_p.D580fs|PRKDC_uc011ldh.1_Frame_Shift_Del_p.D580fs NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 580 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGTGTAAGATCCAATTTCTCA 0.308 NHEJ C9orf167 54863 broad.mit.edu 37 9 140173182 140173182 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:140173182delC uc004cmn.2 + 2 158 c.41delC c.(40-42)GCCfs p.A14fs C9orf167_uc011mew.1_5'Flank NM_017723 NP_060193 Q9NXH8 CI167_HUMAN hypothetical protein LOC54863 14 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity pancreas(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728) GCTGCCGCGGCCCCCCGAGCC 0.751 TCEAL6 158931 broad.mit.edu 37 X 101396280 101396281 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:101396280_101396281insT uc004eiq.2 - 3 184_185 c.23_24insA c.(22-24)AATfs p.N8fs NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGTTTCCTTCATTTTTATTGTA 0.257 FLNA 2316 broad.mit.edu 37 X 153577261 153577261 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:153577261delC uc004fkk.2 - 48 8149 c.7900delG c.(7900-7902)GACfs p.D2634fs FLNA_uc004fki.2_Frame_Shift_Del_p.D674fs|FLNA_uc011mzn.1_Frame_Shift_Del_p.D767fs|FLNA_uc010nuu.1_Frame_Shift_Del_p.D2626fs NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2634 Self-association site, tail.|Filamin 24. D -> H (in Ref. 2; CAA37495). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTGCTCGTCCCCCCATTTG 0.667 LZIC 84328 broad.mit.edu 37 1 9990460 9990460 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:9990459_9990459AT>A uc010oah.2 - 7 702 c.634_634AT>T c.(634-636)tgafs p.*212fs LZIC_uc001aqm.3_Frame_Shift_Del_p.*191fs|LZIC_uc001aqo.3_Frame_Shift_Del_p.*191fs|LZIC_uc009vmr.3_Frame_Shift_Del_p.*191fs NM_032368 NP_115744 Q8WZA0 LZIC_HUMAN Homo sapiens leucine zipper and CTNNBIP1 domain containing (LZIC), mRNA. 0 beta-catenin binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419) GCACCATGTCATTTTTTTGTT 0.333 EIF4G3 8672 broad.mit.edu 37 1 21268826 21268827 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:21268825_21268826T>TG uc001bec.3 - 9 912 c.656_splice c.e9-1 p.E219_splice EIF4G3_uc010odi.2_Splice_Site|EIF4G3_uc010odj.2_Splice_Site_p.E218_splice|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Splice_Site_p.E218_splice|EIF4G3_uc001bee.3_Splice_Site_p.E225_splice|EIF4G3_uc001beg.3_Splice_Site_p.E218_splice|EIF4G3_uc010odk.2_Splice_Site_p.E219_splice|EIF4G3_uc001beh.3_Splice_Site_p.E230_splice NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 219 RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GCTTCTCCTCTGGGGAAAAAAA 0.411 EIF4G3 8672 broad.mit.edu 37 1 21306905 21306905 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:21306904_21306904TG>T uc001bec.3 - 4 504 c.248_248CA>A c.(247-249)caafs p.Q83fs EIF4G3_uc010odj.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.Q90fs|EIF4G3_uc001beg.3_Frame_Shift_Del_p.Q83fs|EIF4G3_uc010odk.2_Frame_Shift_Del_p.Q83fs|EIF4G3_uc001beh.3_Frame_Shift_Del_p.Q94fs NM_003760 NP_003751 O43432 IF4G3_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA. 83 RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation eukaryotic translation initiation factor 4F complex RNA cap binding|protein binding|translation initiation factor activity p.P82R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGATATTGTTGGGGGGGCCC 0.443 GJB3 2707 broad.mit.edu 37 1 35250494 35250494 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:35250493_35250493TG>T uc001bxz.4 + 0 130 c.130_130TG>T c.(130-132)tggfs p.W44fs GJB3_uc001bxx.3_Frame_Shift_Del_p.W44fs|GJB3_uc001bxy.3_Frame_Shift_Del_p.W44fs NM_024009 NP_076872 O75712 CXB3_HUMAN Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA. 44 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGAGCGCGTGTGGGGGGATGA 0.597 ZZZ3 26009 broad.mit.edu 37 1 78041802 78041804 + In_Frame_Del DEL TCA TCA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:78041801_78041803GTCA>G uc001dhq.3 - 11 2757_2759 c.2281_2283TGAC>C c.(2281-2283)gac>C p.D761del ZZZ3_uc001dhr.3_In_Frame_Del_p.D267del|ZZZ3_uc001dhp.3_In_Frame_Del_p.D760del NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA. 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 AACAAGATCGGTCATCATCTTCA 0.394 GBP7 388646 broad.mit.edu 37 1 89613322 89613322 + Frame_Shift_Del DEL C C - rs138127555 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:89613321_89613321GC>G uc001dna.2 - 7 1433 c.1294_1294GC>C c.(1294-1296)cacfs p.H432fs GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGA 0.438 VPS45 11311 broad.mit.edu 37 1 150044232 150044233 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:150044231_150044232A>AG uc001etp.3 + 3 802 c.229_splice c.e3-1 p.E77_splice VPS45_uc010pbp.1_Splice_Site|VPS45_uc010pbq.2_Splice_Site_p.E41_splice|VPS45_uc010pbs.2_Splice_Site_p.E41_splice|VPS45_uc009wlm.1_Splice_Site_p.E77_splice|VPS45_uc010pbr.1_Splice_Site_p.E41_splice NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA. 77 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis Golgi membrane|endosome membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCATTTTCTAGGAGAATGTGG 0.322 FCRL5 83416 broad.mit.edu 37 1 157490925 157490926 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:157490924_157490925A>AG uc009wsm.3 - 10 2555_2556 c.2397_2398T>CT c.(2395-2400)ccctctfs p.P799fs FCRL5_uc001fqu.3_Frame_Shift_Ins_p.P799fs NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 799 Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity p.P799S(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCTCCTCCAGAGGGGGACGACC 0.579 ATP1A4 480 broad.mit.edu 37 1 160137152 160137152 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:160137151_160137151GA>G uc001fve.4 + 9 1919 c.1440_1440GA>G c.(1438-1440)gagfs p.E480fs ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 480 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGATGAGAGAGAAAAACCCCA 0.522 CEP350 9857 broad.mit.edu 37 1 180063486 180063487 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:180063485_180063486G>GA uc001gnt.3 + 33 8628_8629 c.8245_8246G>GA c.(8245-8247)gaafs p.E2749fs CEP350_uc009wxl.2_Frame_Shift_Ins_p.E2748fs|CEP350_uc001gnv.3_Frame_Shift_Ins_p.E884fs|CEP350_uc001gnw.1_Frame_Shift_Ins_p.E506fs|CEP350_uc001gnx.1_Frame_Shift_Ins_p.E506fs NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 2749 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ACAACAACTGGAAAAAATCAGC 0.356 EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:226026383_226026383GC>G uc001hpk.3 + 3 473 c.393_393GC>G c.(391-393)aagfs p.K131fs EPHX1_uc001hpl.3_Frame_Shift_Del_p.K131fs NM_001136018 NP_001129490 P07099 HYEP_HUMAN Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA. 131 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) TCCACGTGAAGCCCCCCCAGC 0.622 HEATR1 55127 broad.mit.edu 37 1 236721620 236721622 + In_Frame_Del DEL CTC CTC - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr1:236721619_236721621TCTC>T uc001hyd.2 - 35 5272_5274 c.5120_5122GAGA>A c.(5119-5124)gagaag>gAag p.K1708del HEATR1_uc009xgh.2_In_Frame_Del_p.K870del NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1708 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGGACATTCTTCTCCTCCTTTCT 0.527 C2orf28 51374 broad.mit.edu 37 2 27436083 27436083 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:27436082_27436082CA>C uc002rjf.3 + 1 475 c.302_302CA>C c.(301-303)tcafs p.S101fs SLC5A6_uc002rjd.3_5'Flank|SLC5A6_uc010eyv.1_5'Flank|SLC5A6_uc002rje.1_5'Flank|C2orf28_uc002rjg.3_5'UTR NM_001170795 NP_001164266 Q6UW56 APR3_HUMAN Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA. 46 integral to membrane|plasma membrane large_intestine(2)|lung(2)|skin(2) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAAATTTGTCAAAAGTGGCC 0.463 PSME4 23198 broad.mit.edu 37 2 54167140 54167141 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:54167139_54167140T>TG uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.?(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAAA 0.347 GLI2 2736 broad.mit.edu 37 2 121708914 121708914 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:121708913_121708913GC>G uc010flp.3 + 2 379 c.349_349GC>G c.(349-351)gccfs p.A117fs GLI2_uc010yyu.1_Frame_Shift_Del_p.A117fs|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Frame_Shift_Del_p.A117fs NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 117 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCCCTTCAACGCCCCCCACCC 0.672 IWS1 55677 broad.mit.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:128238675_128238675CT>C uc002ton.2 - 13 2708 c.2405_2405AG>G c.(2404-2406)agcfs p.S802fs NM_017969 NP_060439 Q96ST2 IWS1_HUMAN Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA. 802 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TGCAGATCTGCTTTTTTTCCT 0.423 STK11IP 114790 broad.mit.edu 37 2 220478946 220478946 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr2:220478945_220478945AC>A uc002vml.3 + 21 2855 c.2812_2812AC>A c.(2812-2814)accfs p.T938fs NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA. 938 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGAGGTCACCCCCCAGCA 0.602 APEH 327 broad.mit.edu 37 3 49719319 49719319 + Splice_Site DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:49719318_49719318AG>A uc010hkw.1 + 17 1923 c.1523_splice c.e17-2 p.G508_splice APEH_uc003cxf.3_Splice_Site_p.G508_splice NM_001640 NP_001631 P13798 ACPH_HUMAN Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA. 508 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCTGTCTGCAGGGGGGCCCC 0.607 CCDC66 285331 broad.mit.edu 37 3 56600690 56600691 + Frame_Shift_Ins INS - - A rs148949812 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:56600689_56600690C>CA uc003dhz.3 + 4 699_700 c.612_613C>CA c.(610-615)ttcaaafs p.F204fs CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Frame_Shift_Ins_p.F170fs|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dhv.2_Non-coding_Transcript|CCDC66_uc003dhw.2_Frame_Shift_Ins_p.F204fs NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA. 204 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TGGGATTATTCAAAAAAACTGA 0.307 RNF168 165918 broad.mit.edu 37 3 196199237 196199238 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr3:196199236_196199237G>GT uc003fwq.3 - 5 1764_1765 c.1169_1170C>AC c.(1168-1170)aacfs p.N390fs RNF168_uc010iah.3_Frame_Shift_Ins_p.N223fs NM_152617 NP_689830 Q8IYW5 RN168_HUMAN Homo sapiens ring finger protein 168 (RNF168), mRNA. 390 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AAGATTCTTGGTTTTTTCTTTT 0.421 FAM193A 8603 broad.mit.edu 37 4 2661593 2661594 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:2661592_2661593A>AC uc010ick.3 + 8 1284_1285 c.1283_1284A>AC c.(1282-1284)gacfs p.D428fs FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs NM_003704 NP_003695 P78312 F193A_HUMAN Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA. 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 PLAC8 51316 broad.mit.edu 37 4 84026050 84026050 + Splice_Site DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:84026049_84026049AG>A uc003hoe.3 - 3 404 c.243_splice c.e3+1 p.P81_splice PLAC8_uc011cco.2_Splice_Site_p.P81_splice|PLAC8_uc010ijy.3_Splice_Site|PLAC8_uc010ijz.3_Intron|PLAC8_uc003hod.2_Splice_Site_p.P81_splice NM_001130716 NP_057703 Q9NZF1 PLAC8_HUMAN Homo sapiens placenta-specific 8 (PLAC8), transcript variant 1, mRNA. 81 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) AGAGACTCACAGGGATGCCAT 0.418 BMPR1B 658 broad.mit.edu 37 4 96025646 96025647 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:96025645_96025646A>AC uc003htm.4 + 3 344_345 c.70_71A>AC c.(70-72)accfs p.T24fs BMPR1B_uc010ilb.3_Frame_Shift_Ins_p.T24fs|BMPR1B_uc003htn.4_Frame_Shift_Ins_p.T24fs NM_001203 NP_001194 O00238 BMR1B_HUMAN Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA. 24 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TACAGCCCCCACCCCCCGTCCA 0.431 ANK2 287 broad.mit.edu 37 4 114278230 114278230 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:114278229_114278229GA>G uc003ibe.4 + 37 8555 c.8455_8455GA>G c.(8455-8457)gaafs p.E2819fs ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.E2834fs NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2786 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGGCACTCATGAAAAAGACAC 0.453 LRBA 987 broad.mit.edu 37 4 151774054 151774054 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr4:151774053_151774053TA>T uc010ipj.3 - 22 3053 c.2809_2809TA>A c.(2809-2811)aggfs p.R937fs LRBA_uc003ilu.4_Frame_Shift_Del_p.R937fs NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 937 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TGCTGTTCCCTAAATATATTG 0.353 IL7R 3575 broad.mit.edu 37 5 35867541 35867542 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:35867540_35867541C>CA uc003jjs.3 + 2 443_444 c.354_355C>CA c.(352-357)tgcaaafs p.C118fs IL7R_uc011coo.2_Frame_Shift_Ins_p.C118fs|IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 118 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GTCTAACCTGCAAAAAAATAGA 0.356 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency ZNF366 167465 broad.mit.edu 37 5 71756154 71756154 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:71756153_71756153TG>T uc003kce.1 - 1 1357 c.1171_1171CA>A c.(1171-1173)atcfs p.I391fs NM_152625 NP_689838 Q8N895 ZN366_HUMAN Homo sapiens zinc finger protein 366 (ZNF366), mRNA. 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTGTACTGGATGGGGCCCCGG 0.612 CCDC112 153733 broad.mit.edu 37 5 114606950 114606952 + In_Frame_Del DEL CTT CTT - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr5:114606949_114606951CCTT>C uc003kqz.2 - 6 1509_1511 c.1291_1293AAGG>G c.(1291-1293)agg>G p.R431del CCDC112_uc003kqy.2_In_Frame_Del_p.R348del|CCDC112_uc003kra.2_In_Frame_Del_p.R431del NM_001040440 NP_689762 Q8NEF3 CC112_HUMAN Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA. 348 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) CAGCATTTTTCCTTTTTTCTGCC 0.325 KIF13A 63971 broad.mit.edu 37 6 17788023 17788024 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:17788022_17788023C>CT uc003ncg.4 - 26 3505_3506 c.3345_3346G>AG c.(3343-3348)aaagtcfs p.K1115fs KIF13A_uc003ncf.3_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.4_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.4_Frame_Shift_Ins_p.K1102fs NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1115 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTATTGCTGACTTTTTTTATCT 0.416 MDC1 9656 broad.mit.edu 37 6 30671005 30671005 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:30671004_30671004TC>T uc003nrg.4 - 11 6182 c.5742_5742GA>A c.(5740-5742)ggafs p.G1914fs MDC1_uc003nrf.4_Frame_Shift_Del_p.G545fs NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1914 BRCT 1.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CAGCCAGACTTCCCCCCAGTG 0.632 Other conserved DNA damage response genes HLA-C 3107 broad.mit.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - rs77061046 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:31323362_31323362TG>T uc003nth.2 - 3 681 c.627_627CA>A c.(625-627)ccafs p.P209fs HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR NM_005514 NP_005505 Q9TNN7 1C05_HUMAN Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA. 209 Alpha-3.|Ig-like C1-type. 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 MHC class I protein complex|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGTGTGTCTTTGGGGGGTCTG 0.577 ICK 22858 broad.mit.edu 37 6 52878581 52878581 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:52878580_52878580AG>A uc003pbh.2 - 9 1522 c.1032_1032CT>T c.(1030-1032)cctfs p.P344fs ICK_uc003pbi.2_Frame_Shift_Del_p.P344fs NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 344 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TGAGATGCAGAGGGGGCTGGC 0.577 IBTK 25998 broad.mit.edu 37 6 82933340 82933340 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:82933339_82933339TA>T uc003pjl.1 - 8 1471 c.944_splice c.e8-1 p.G315_splice IBTK_uc011dyv.1_Splice_Site_p.G315_splice|IBTK_uc011dyw.1_Splice_Site_p.G315_splice|IBTK_uc010kbi.1_Splice_Site_p.G9_splice|IBTK_uc003pjm.2_Splice_Site_p.G315_splice NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA. 315 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GCAAACAACCTAAAAAATGAT 0.423 PDE10A 10846 broad.mit.edu 37 6 165844963 165844963 + Splice_Site DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr6:165844962_165844962TA>T uc003qun.3 - 9 909 c.664_splice c.e9-1 p.V222_splice PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 222 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGTTGCAACCTAAAAAAAACA 0.328 ELMO1 9844 broad.mit.edu 37 7 37355559 37355560 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:37355558_37355559G>GT uc022abv.1 - 2 794_795 c.84_85C>AC c.(82-87)aaaccafs p.K28fs ELMO1_uc003tfk.2_Frame_Shift_Ins_p.K28fs|ELMO1_uc010kxg.2_Frame_Shift_Ins_p.K28fs NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 28 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCAGACAGTGGTTTTTTCTGCA 0.272 PPP1R9A 55607 broad.mit.edu 37 7 94539504 94539504 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:94539503_94539503GT>G uc003unp.3 + 1 360 c.78_78GT>G c.(76-78)gagfs p.E26fs PPP1R9A_uc010lfj.3_Frame_Shift_Del_p.E26fs|PPP1R9A_uc011kif.2_Frame_Shift_Del_p.E26fs|PPP1R9A_uc003unq.3_Frame_Shift_Del_p.E26fs|PPP1R9A_uc011kig.2_Frame_Shift_Del_p.E26fs NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 26 Actin-binding. cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ATCGAACTGAGTTTCAGGCAC 0.468 HNSCC(28;0.073) PLOD3 8985 broad.mit.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - rs138002558 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:100855926_100855926CG>C uc003uyd.3 - 8 1346 c.890_890CG>G c.(889-891)cggfs p.R297fs NM_001084 NP_001075 O60568 PLOD3_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. 297 protein modification process rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.R297fs*61(2)|p.P296L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CAGAAACACCCGGGGGGGAGG 0.642 TMEM168 64418 broad.mit.edu 37 7 112424191 112424192 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:112424190_112424191T>TA uc003vgn.3 - 1 1082_1083 c.690_691A>TA c.(688-693)tttattfs p.F230fs TMEM168_uc010lju.3_Frame_Shift_Ins_p.F230fs|TMEM168_uc011kmr.2_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN Homo sapiens transmembrane protein 168 (TMEM168), mRNA. 230 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 ATCAGGCAAATAAAAAAACACG 0.332 TSGA13 114960 broad.mit.edu 37 7 130357652 130357652 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:130357651_130357651CT>C uc003vqi.3 - 5 910 c.453_453AG>G c.(451-453)aagfs p.K151fs TSGA13_uc003vqj.3_Frame_Shift_Del_p.K151fs NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 151 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TAGATCTTAACTTTTTTTTCT 0.453 ARHGEF5 7984 broad.mit.edu 37 7 144075858 144075858 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr7:144075857_144075857TC>T uc003wel.3 + 13 4652 c.4534_4534TC>T c.(4534-4536)tccfs p.S1512fs ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 1512 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TTCCAAAGACTCCCCCCAGGT 0.557 PLAG1 5324 broad.mit.edu 37 8 57078932 57078932 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:57078931_57078931TG>T uc003xsq.4 - 2 1825 c.1374_1374CA>A c.(1372-1374)ccafs p.P458fs PLAG1_uc003xsr.4_Frame_Shift_Del_p.P458fs|PLAG1_uc010lyi.3_Frame_Shift_Del_p.P458fs|PLAG1_uc010lyj.3_Frame_Shift_Del_p.P376fs|PLAG1_uc022aur.1_Frame_Shift_Del_p.P376fs NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 458 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. P -> T (in dbSNP:rs35883156). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CCTGTGTTTGTGGGGGGAGCT 0.493 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma SLCO5A1 81796 broad.mit.edu 37 8 70617403 70617403 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:70617402_70617402AT>A uc003xyl.3 - 5 2193 c.1486_1486AT>T c.(1486-1488)ttgfs p.L496fs SLCO5A1_uc010lzb.3_Frame_Shift_Del_p.L441fs|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Frame_Shift_Del_p.L496fs|SLCO5A1_uc010lzc.2_Frame_Shift_Del_p.L441fs NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 496 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CCAAGTTTCAATTTTTTTATA 0.403 CPSF1 29894 broad.mit.edu 37 8 145620377 145620377 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr8:145620376_145620376TG>T uc003zcj.3 - 28 3284 c.3209_3209CA>A c.(3208-3210)cagfs p.Q1070fs MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript NM_013291 NP_037423 Q10570 CPSF1_HUMAN Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA. 1070 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGCCTCCTGCTGGGGGTGGAT 0.642 NOL6 65083 broad.mit.edu 37 9 33466944 33466944 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:33466943_33466943GC>G uc003zsz.3 - 14 2018 c.1917_1917GC>C c.(1915-1917)ggcfs p.G639fs NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Frame_Shift_Del_p.G639fs|NOL6_uc010mjv.3_Frame_Shift_Del_p.G636fs|NOL6_uc011lob.2_Frame_Shift_Del_p.G587fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.G639fs NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA. 639 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CATCCAGGGGGCCCCCCACAT 0.517 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COL5A1 1289 broad.mit.edu 37 9 137642390 137642390 + Splice_Site DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr9:137642389_137642389GC>G uc004cfe.3 + 12 1877 c.1495_splice c.e12-1 p.G499_splice NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 499 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGTCTTCAGGGCCCCCCTGGA 0.662 C10orf71 118461 broad.mit.edu 37 10 50530938 50530938 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:50530937_50530937GC>G uc021pqb.1 + 0 347 c.347_347GC>G c.(346-348)agcfs p.S116fs C10orf71_uc021pqa.1_Frame_Shift_Del_p.S115fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.S116fs NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 116 endometrium(1) 1 CCCAAAACCAGCCCCCCACCA 0.547 STAMBPL1 57559 broad.mit.edu 37 10 90682161 90682161 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:90682160_90682160TC>T uc001kfk.3 + 9 1644 c.1221_1221TC>T c.(1219-1221)tttfs p.F407fs STAMBPL1_uc010qmx.1_Frame_Shift_Del_p.F407fs|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Frame_Shift_Del_p.F407fs|STAMBPL1_uc001kfn.3_Frame_Shift_Del_p.F241fs NM_020799 NP_065850 Q96FJ0 STALP_HUMAN Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA. 407 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) AAAAGGGCTTTCATCCACACA 0.408 IDE 3416 broad.mit.edu 37 10 94297296 94297296 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:94297295_94297295CT>C uc001kia.3 - 1 187 c.111_111AG>G c.(109-111)aagfs p.K37fs NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 37 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCTGTAAGTCTTTTTTTGGA 0.343 C10orf12 26148 broad.mit.edu 37 10 98715070 98715070 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr10:98715069_98715069CA>C uc001kmu.2 + 7 1255 c.692_692CA>C c.(691-693)ccafs p.P231fs C10orf12_uc001kmr.3_Frame_Shift_Del_p.P231fs|C10orf12_uc001kms.2_Frame_Shift_Del_p.P231fs|C10orf12_uc009xvg.2_Intron|C10orf12_uc021pwp.1_5'Flank NM_032440 NP_115816 Q8N655 CJ012_HUMAN Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA. 1047 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TCTGCCTTTCCAAAAATGGCA 0.423 ADM 133 broad.mit.edu 37 11 10328154 10328154 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:10328153_10328153GC>G uc001mil.1 + 3 679 c.523_523GC>G c.(523-525)gccfs p.A175fs NM_001124 NP_001115 P35318 ADML_HUMAN Homo sapiens adrenomedullin (ADM), mRNA. 175 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity p.S178fs*>9(1) central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) CGGGGCTCCAGCCCCCCCGAG 0.677 OR5T3 390154 broad.mit.edu 37 11 56019856 56019856 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:56019855_56019855AT>A uc010rjd.2 + 0 180 c.180_180AT>A c.(178-180)ctafs p.L60fs NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TATTTTTACTATTTTTTGCAA 0.373 MS4A8B 83661 broad.mit.edu 37 11 60476247 60476247 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:60476246_60476246TG>T uc001npv.3 + 4 729 c.526_526TG>T c.(526-528)tggfs p.W176fs MS4A8B_uc009yne.1_Frame_Shift_Del_p.W176fs NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA. 176 integral to membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TCCTTACGCCTGGGGTGTGGT 0.463 DDX6 1656 broad.mit.edu 37 11 118629614 118629615 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:118629613_118629614T>TG uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL UPK2 7379 broad.mit.edu 37 11 118827661 118827661 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr11:118827660_118827660GC>G uc001puh.3 + 1 197 c.144_144GC>G c.(142-144)ttgfs p.L48fs NM_006760 NP_006751 O00526 UPK2_HUMAN Homo sapiens uroplakin 2 (UPK2), mRNA. 48 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TGGTTGCCTTGCCCCCCTGTC 0.602 OREG0021391 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RBMS2 5939 broad.mit.edu 37 12 56915862 56915864 + In_Frame_Del DEL AAC AAC - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:56915861_56915863AAAC>A uc001sln.2 + 0 253_255 c.54_56AAAC>A c.(52-57)agaaac>agAc p.N20del RBMS2_uc010sqp.1_5'UTR|RBMS2_uc010sqq.1_5'UTR|RBMS2_uc009zou.2_5'UTR NM_002898 NP_002889 Q15434 RBMS2_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA. 20 RNA processing nucleus RNA binding|nucleotide binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 GCTACAATAGAAACAACAAGAAG 0.429 MYO1A 4640 broad.mit.edu 37 12 57440668 57440668 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:57440667_57440667AG>A uc001smw.4 - 6 761 c.521_521CT>T c.(520-522)ctcfs p.L174fs MYO1A_uc010sqz.2_Frame_Shift_Del_p.L12fs|MYO1A_uc009zpd.3_Frame_Shift_Del_p.L174fs NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 174 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GACACCACCGAGGGGGGATCC 0.498 R3HDM2 22864 broad.mit.edu 37 12 57652675 57652675 + Splice_Site DEL G G - rs140435515 TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:57652674_57652674TG>T uc009zpm.1 - 18 2294 c.2259_splice c.e18+1 p.Q753_splice R3HDM2_uc010srn.1_Splice_Site|R3HDM2_uc001snu.2_Splice_Site_p.Q448_splice|R3HDM2_uc001snr.2_Splice_Site_p.Q480_splice|R3HDM2_uc001sns.2_Splice_Site_p.Q753_splice|R3HDM2_uc001snt.2_Splice_Site_p.Q767_splice NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN Homo sapiens R3H domain containing 2 (R3HDM2), mRNA. 753 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TGCACTCACCTGGGGGCTGCT 0.537 GLIPR1L2 144321 broad.mit.edu 37 12 75804255 75804255 + Frame_Shift_Del DEL A A - rs144818804 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:75804254_75804254GA>G uc001sxr.1 + 1 283 c.275_275GA>G c.(274-276)ggafs p.G92fs GLIPR1L2_uc001sxp.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_uc001sxq.1_5'UTR NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA. 92 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 AGAGCATGGGGAAAAAAATGT 0.318 SDSL 113675 broad.mit.edu 37 12 113867032 113867033 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:113867031_113867032T>TC uc001tvi.3 + 4 488_489 c.281_282T>TC c.(280-282)ctcfs p.L94fs SDSL_uc009zwh.3_Frame_Shift_Ins_p.L94fs NM_138432 NP_612441 Q96GA7 SDSL_HUMAN Homo sapiens serine dehydratase-like (SDSL), mRNA. 94 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) ACCATCGTGCTCCCCGAGAGCA 0.629 SBNO1 55206 broad.mit.edu 37 12 123794283 123794284 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr12:123794282_123794283A>AT uc010tap.2 - 24 3416_3417 c.3416_3417T>AT c.(3415-3417)aatfs p.N1139fs SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Frame_Shift_Ins_p.N1138fs|SBNO1_uc010taq.2_Frame_Shift_Ins_p.N90fs|SBNO1_uc001ues.1_Frame_Shift_Ins_p.N90fs NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CATATCTTCCATTTTTTTTGGC 0.386 FAM70B 348013 broad.mit.edu 37 13 114514859 114514859 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr13:114514858_114514858AC>A uc001vuh.3 + 8 990 c.963_963AC>A c.(961-963)ccafs p.P321fs NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 321 Pro-rich. integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) GGGAGAAGCCACCCCCCTACG 0.557 MYH6 4624 broad.mit.edu 37 14 23874468 23874470 + In_Frame_Del DEL AGA AGA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr14:23874467_23874469GAGA>G uc001wjv.3 - 4 536_538 c.465_467TCTC>C c.(463-468)ttctcc>ttCc p.S156del MYH6_uc010akp.2_In_Frame_Del_p.S156del NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 156 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTCGGAGATGGAGAAGATGTGGG 0.621 MGA 23269 broad.mit.edu 37 15 42054516 42054517 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:42054515_42054516A>AG uc010ucy.2 + 21 7880_7881 c.7699_7700A>AG c.(7699-7701)aggfs p.R2567fs MGA_uc010ucz.2_Frame_Shift_Ins_p.R2358fs|MGA_uc010uda.1_Frame_Shift_Ins_p.R1183fs NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2528 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAATAACAGGAGGGGGAAACCT 0.406 RNF111 54778 broad.mit.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:59376342_59376342GC>G uc002afv.3 + 8 2591 c.2312_2312GC>G c.(2311-2313)cgcfs p.R771fs RNF111_uc002afs.3_Frame_Shift_Del_p.R771fs|RNF111_uc002aft.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afu.3_Frame_Shift_Del_p.R770fs|RNF111_uc002afw.3_Frame_Shift_Del_p.R780fs|RNF111_uc002afx.3_Frame_Shift_Del_p.R297fs|RNF111_uc002afy.3_5'Flank NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN Homo sapiens ring finger protein 111 (RNF111), mRNA. 771 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R771C(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GCACATGAACGCCCCCCACCC 0.443 FAH 2184 broad.mit.edu 37 15 80464493 80464493 + Splice_Site DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:80464492_80464492CT>C uc002bfm.2 + 8 771 c.607_splice c.e8-1 p.A203_splice FAH_uc002bfn.2_Splice_Site_p.A133_splice NM_000137 NP_000128 P16930 FAAA_HUMAN Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA. 203 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCATGTAAGGCTTTTTTTGTA 0.498 Tyrosinemia, type 1 TM6SF1 53346 broad.mit.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr15:83805311_83805311CT>C uc002bjp.3 + 9 1109 c.1000_1000CT>C c.(1000-1002)cttfs p.L334fs TM6SF1_uc010bmq.3_Frame_Shift_Del_p.L303fs|TM6SF1_uc002bjq.3_3'UTR|TM6SF1_uc010bmr.3_Non-coding_Transcript|TM6SF1_uc002bjr.3_Frame_Shift_Del_p.L186fs NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA. 334 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGCAAAAATCCTTTTTTTAGC 0.368 RAB40C 57799 broad.mit.edu 37 16 677580 677581 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr16:677579_677580G>GC uc021szt.1 + 6 1025_1026 c.803_804G>GC c.(802-804)agcfs p.S268fs RAB40C_uc021szu.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc021szv.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc002chq.3_Frame_Shift_Ins_p.S249fs|RAB40C_uc002chr.3_Frame_Shift_Ins_p.S268fs|AK128777_uc002chs.1_5'Flank NM_001172663 NP_066991 Q96S21 RB40C_HUMAN Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA. 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 ZFP3 124961 broad.mit.edu 37 17 4995923 4995923 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:4995922_4995922AG>A uc002gaq.3 + 1 1248 c.1123_1123AG>A c.(1123-1125)aggfs p.R375fs ZFP3_uc021tog.1_Frame_Shift_Del_p.R375fs NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 375 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 GAAGGCCTTCAGGGGGAACTC 0.438 YBX2 51087 broad.mit.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:7193636_7193636TG>T uc002gfq.2 - 4 735 c.678_678CA>A c.(676-678)ccafs p.P226fs NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Homo sapiens Y box binding protein 2 (YBX2), mRNA. 226 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 AGAAGAAGGGTGGGGGGCACC 0.657 MPRIP 23164 broad.mit.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:17046885_17046885GC>G uc002gqv.2 + 8 1140 c.1051_1051GC>G c.(1051-1053)gccfs p.A351fs MPRIP_uc002gqu.2_Frame_Shift_Del_p.A351fs|MPRIP_uc002gqw.2_Intron NM_015134 NP_055949 Q6WCQ1 MPRIP_HUMAN Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA. 351 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CACCAATGAAGCCCCCCCAGC 0.647 KIAA0100 9703 broad.mit.edu 37 17 26966334 26966334 + Splice_Site DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:26966333_26966333CT>C uc002hbu.3 - 11 1332 c.1229_splice c.e11+1 p.R410_splice KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 410 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TCAGACTGACCTTTTTTTCCT 0.433 ITGA3 3675 broad.mit.edu 37 17 48154743 48154744 + Splice_Site INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:48154742_48154743G>GC uc010dbm.3 + 16 2535 c.2071_splice c.e16-1 p.P691_splice ITGA3_uc010dbl.3_Splice_Site_p.P691_splice NM_005501 NP_005492 P26006 ITA3_HUMAN Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA. 691 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TCTTTCCTCAGCCCGGGGCCTG 0.589 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 TBX4 9496 broad.mit.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:59560344_59560344TC>T uc010ddo.3 + 8 1271 c.1108_1108TC>T c.(1108-1110)tccfs p.S370fs TBX4_uc002izi.3_Frame_Shift_Del_p.S369fs|TBX4_uc010woy.2_Frame_Shift_Del_p.S370fs NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 369 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTATTTCCGTTCCCCCCCTCC 0.572 ABCA6 23460 broad.mit.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr17:67125766_67125766TA>T uc002jhw.1 - 6 1093 c.918_918TA>A c.(916-918)ttafs p.L306fs NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 306 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATAAGCCATATAAAAAAAAGA 0.303 TSHZ3 57616 broad.mit.edu 37 19 31767998 31767999 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:31767997_31767998T>TG uc002nsy.4 - 1 2766_2767 c.2701_2702A>CA c.(2701-2703)cagfs p.Q901fs NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 901 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CAGGAGGTGCTGGGGGTTCCAG 0.624 CD22 933 broad.mit.edu 37 19 35832249 35832250 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:35832248_35832249G>GC uc010edt.3 + 7 1594_1595 c.1510_1511G>GC c.(1510-1512)gccfs p.A504fs CD22_uc010edu.3_Frame_Shift_Ins_p.A416fs|CD22_uc010edv.3_Frame_Shift_Ins_p.A504fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.A327fs|CD22_uc010xst.2_Frame_Shift_Ins_p.A332fs|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 504 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCCTCCAGATGCCCCCCGAGAC 0.619 LMTK3 114783 broad.mit.edu 37 19 49000740 49000740 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:49000739_49000739TC>T uc002pjk.3 - 11 3674 c.3674_3674GA>A c.(3673-3675)gacfs p.D1225fs NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTTGGGGGGGTCCCCGTCTCC 0.706 TSKS 60385 broad.mit.edu 37 19 50243064 50243064 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:50243063_50243063TG>T uc002ppm.3 - 10 1760 c.1749_1749CA>A c.(1747-1749)ccafs p.P583fs NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA. 583 protein binding p.P582T(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTC 0.542 ZSCAN5B 342933 broad.mit.edu 37 19 56701680 56701681 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr19:56701679_56701680T>TG uc010ygh.2 - 3 1004_1005 c.1004_1005A>CA c.(1003-1005)ccafs p.P335fs NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 335 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CCGCAGGGCCTGGGGAATGAAC 0.545 LPIN3 64900 broad.mit.edu 37 20 39977299 39977300 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:39977298_39977299T>TG uc010ggh.3 + 3 419_420 c.328_329T>TG c.(328-330)tggfs p.W110fs LPIN3_uc002xjx.3_Frame_Shift_Ins_p.W110fs|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 110 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ACCCATCCCTTGGGGGGGTCTG 0.663 SALL4 57167 broad.mit.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:50400982_50400982AC>A uc002xwh.4 - 3 3085 c.2984_2984GT>T c.(2983-2985)gttfs p.V995fs SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACT 0.562 TSHZ2 128553 broad.mit.edu 37 20 51872445 51872446 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:51872444_51872445T>TC uc002xwo.3 + 1 3334_3335 c.2447_2448T>TC c.(2446-2448)gtcfs p.V816fs TSHZ2_uc021wex.1_Frame_Shift_Ins_p.V813fs NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 816 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TCCTCCAGGGTCCCCCCCATGA 0.550 DNAJC5 80331 broad.mit.edu 37 20 62562334 62562334 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr20:62562333_62562333TC>T uc002yhf.3 + 3 684 c.451_451TC>T c.(451-453)tccfs p.S151fs DNAJC5_uc002yhh.3_Non-coding_Transcript NM_025219 NP_079495 Q9H3Z4 DNJC5_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA. 151 neurotransmitter secretion|protein folding clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1) 5 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GTTCTACGTGTCCCCCGAGGA 0.642 DDX17 10521 broad.mit.edu 37 22 38895455 38895455 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:38895454_38895454TC>T uc003avy.4 - 2 592 c.489_489GA>A c.(487-489)ggafs p.G163fs DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs NM_001098504 NP_001091974 Q92841 DDX17_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA. 84 Helicase ATP-binding. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity p.G163fs*20(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GACAAACATCTCCCCCCCTCA 0.383 CELSR1 9620 broad.mit.edu 37 22 46760471 46760471 + Frame_Shift_Del DEL G G - rs147302444 byFrequency TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:46760470_46760470CG>C uc003bhw.1 - 32 8718 c.8718_8718CG>G c.(8716-8718)ccgfs p.P2906fs NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 2906 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTCCTGGTCCGGGGGGTACT 0.697 SBF1 6305 broad.mit.edu 37 22 50898756 50898756 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chr22:50898755_50898755TG>T uc003blh.3 - 24 3424 c.3229_3229CA>A c.(3229-3231)agcfs p.S1077fs SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1077 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGCTCCCAGCTGGGGGGGTTG 0.647 GYG2 8908 broad.mit.edu 37 X 2779580 2779581 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:2779579_2779580T>TG uc004cqs.1 + 8 1229_1230 c.947_948T>TG c.(946-948)gtgfs p.V316fs GYG2_uc004cqu.1_Frame_Shift_Ins_p.V285fs|GYG2_uc004cqx.2_Frame_Shift_Ins_p.V316fs|GYG2_uc004cqt.1_Frame_Shift_Ins_p.V285fs|GYG2_uc004cqv.1_Frame_Shift_Ins_p.V130fs|GYG2_uc004cqw.1_Frame_Shift_Ins_p.V276fs|GYG2_uc010ndc.1_Frame_Shift_Ins_p.V130fs NM_003918 NP_003909 O15488 GLYG2_HUMAN Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA. 316 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACAGTGATGTGGGGGGGCCGT 0.579 DMD 1756 broad.mit.edu 37 X 31198546 31198546 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:31198545_31198545GA>G uc004dda.1 - 68 10272 c.10028_10028TC>C c.(10027-10029)tctfs p.S3343fs DMD_uc004dcq.1_Frame_Shift_Del_p.S614fs|DMD_uc004dcr.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcs.1_Frame_Shift_Del_p.S883fs|DMD_uc004dct.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcu.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcv.1_Frame_Shift_Del_p.S883fs|DMD_uc004dcw.2_Frame_Shift_Del_p.S1999fs|DMD_uc004dcx.2_Frame_Shift_Del_p.S2002fs|DMD_uc004dcz.2_Frame_Shift_Del_p.S3220fs|DMD_uc004dcy.1_Frame_Shift_Del_p.S3339fs|DMD_uc004ddb.1_Frame_Shift_Del_p.S3335fs|DMD_uc004dcp.1_Frame_Shift_Del_p.S275fs|DMD_uc011mkb.1_Frame_Shift_Del_p.S275fs|DMD_uc004dcm.1_Frame_Shift_Del_p.S275fs|DMD_uc004dcn.1_Frame_Shift_Del_p.S275fs|DMD_uc004dco.1_Frame_Shift_Del_p.S275fs|DMD_uc010ngm.3_Frame_Shift_Del_p.S275fs NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3343 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACTCGACCAGAAAAAAAGCA 0.413 ALAS2 212 broad.mit.edu 37 X 55052384 55052384 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:55052383_55052383GC>G uc004dua.4 - 1 189 c.51_51GC>C c.(49-51)ggcfs p.G17fs ALAS2_uc004dub.4_Frame_Shift_Del_p.G41fs|ALAS2_uc004dud.4_Frame_Shift_Del_p.G17fs NM_000032 NP_000023 P22557 HEM0_HUMAN Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 17 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GGCTTGTGGGGCCCCGGGCAA 0.532 ZMYM3 9203 broad.mit.edu 37 X 70468355 70468355 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:70468354_70468354GC>G uc004dzh.2 - 9 1937 c.1758_1758GC>C c.(1756-1758)ggcfs p.G586fs BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Frame_Shift_Del_p.G586fs|ZMYM3_uc004dzj.2_Frame_Shift_Del_p.G586fs NM_201599 NP_963893 Q14202 ZMYM3_HUMAN Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA. 586 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCAGGTGAATGCCCCCCTCAG 0.597 RPS6KA6 27330 broad.mit.edu 37 X 83352796 83352796 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:83352795_83352795TA>T uc004eej.2 - 18 1874 c.1838_1838TA>A c.(1837-1839)tacfs p.Y613fs RPS6KA6_uc011mqt.2_Frame_Shift_Del_p.Y613fs|RPS6KA6_uc011mqu.2_Frame_Shift_Del_p.Y510fs NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 613 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CAACATTGTGTAAAAAAGGAC 0.303 TCEAL6 158931 broad.mit.edu 37 X 101396281 101396282 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 g.chrX:101396280_101396281A>AT uc022cas.1 - 0 23_24 c.23_24T>AT c.(22-24)aatfs p.N8fs TCEAL6_uc004eiq.3_Frame_Shift_Ins_p.N8fs NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA. 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 GGTTTCCTTCATTTTTATTGTA 0.465