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 PTCHD2 57540 broad.mit.edu 37 1 11579853 11579853 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:11579853C>T uc001ash.3 + 9 2254 c.2116C>T c.(2116-2118)CGC>TGC p.R706C PTCHD2_uc001asi.1_Missense_Mutation_p.R706C NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 706 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CACGGGCAGCCGCGGCCATCT 0.667000 USP48 84196 broad.mit.edu 37 1 22079022 22079022 + Silent SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:22079022A>C uc001bfb.2 - 5 901 c.663T>G c.(661-663)ACT>ACG p.T221T USP48_uc010odq.1_Silent_p.T221T|USP48_uc009vqc.2_Silent_p.T221T|USP48_uc001bfc.2_Silent_p.T221T|USP48_uc001bfe.1_Silent_p.T221T|USP48_uc001bff.2_Silent_p.T221T NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 221 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) AGACTTACACAGTTACATAGG 0.348000 ELTD1 64123 broad.mit.edu 37 1 79404873 79404873 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:79404873T>A uc001diq.3 - 4 552 c.396A>T c.(394-396)AAA>AAT p.K132N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 132 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCTACTTACTTTTGTTAAAG 0.254000 COL24A1 255631 broad.mit.edu 37 1 86591429 86591429 + Missense_Mutation SNP A A G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:86591429A>G uc001dlj.2 - 3 632 c.590T>C c.(589-591)TTT>TCT p.F197S COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.F197S NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 197 TSP N-terminal.|Laminin G-like. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTAGAATCAAAGGTCTGAAC 0.323000 HIST2H2AB 317772 broad.mit.edu 37 1 149859408 149859408 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:149859408G>A uc001ete.2 - 1 59 c.59C>T c.(58-60)TCC>TTC p.S20F HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 20 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACCAGCGCGGGACGAGCGCGA 0.637000 FCRL5 83416 broad.mit.edu 37 1 157508895 157508895 + Silent SNP C C T rs139032379 byFrequency TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:157508895C>T uc001fqu.2 - 7 1541 c.1383G>A c.(1381-1383)GCG>GCA p.A461A FCRL5_uc009wsm.2_Silent_p.A461A|FCRL5_uc010phv.1_Silent_p.A461A|FCRL5_uc010phw.1_Silent_p.A376A|FCRL5_uc001fqv.1_Silent_p.A461A|FCRL5_uc010phx.1_Silent_p.A212A NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 461 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGAGGCTCACCGCCTTACTGC 0.582000 OR10J3 441911 broad.mit.edu 37 1 159284373 159284373 + Missense_Mutation SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:159284373A>C uc010piu.1 - 1 77 c.77T>G c.(76-78)CTT>CGT p.L26R NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 26 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) AAAGAAGACAAGTTTGTGCTG 0.448000 ATP1A4 480 broad.mit.edu 37 1 160136448 160136448 + Missense_Mutation SNP G G A rs139315814 TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:160136448G>A uc001fve.3 + 8 1657 c.1178G>A c.(1177-1179)CGC>CAC p.R393H ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 393 Cytoplasmic (Potential). 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 ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCCAGAACCGCATGACCGTC 0.577000 TNN 63923 broad.mit.edu 37 1 175067562 175067562 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:175067562C>T uc001gkl.1 + 9 2063 c.1950C>T c.(1948-1950)TAC>TAT p.Y650Y TNN_uc010pmx.1_Silent_p.Y561Y NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 650 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) TTGACAAGTACGTGGTGCGCT 0.597000 LAMC1 3915 broad.mit.edu 37 1 183087207 183087207 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:183087207T>A uc001gpy.3 + 11 2173 c.1916T>A c.(1915-1917)CTT>CAT p.L639H NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 639 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGCCTGCTCTTACCCCTTTT 0.423000 EPRS 2058 broad.mit.edu 37 1 220153467 220153467 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:220153467G>A uc001hly.1 - 26 3941 c.3671C>T c.(3670-3672)ACA>ATA p.T1224I NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1224 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TGCTTCTATTGTAGTTGTATA 0.413000 URB2 9816 broad.mit.edu 37 1 229772123 229772123 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:229772123C>T uc001hts.1 + 4 1899 c.1763C>T c.(1762-1764)CCG>CTG p.P588L URB2_uc009xfd.1_Missense_Mutation_p.P588L NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 588 nucleolus central_nervous_system(2)|ovary(1) 3 GCCCTTCTCCCGGACACCCCA 0.612000 ALOX5 240 broad.mit.edu 37 10 45938960 45938960 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr10:45938960C>T uc001jce.2 + 11 1647 c.1548C>T c.(1546-1548)TAC>TAT p.Y516Y ALOX5_uc009xmt.2_Silent_p.Y484Y|ALOX5_uc010qfg.1_Silent_p.Y516Y NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 516 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TCTACGTGTACGGCATGCGGG 0.692000 MYOF 26509 broad.mit.edu 37 10 95069867 95069867 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr10:95069867G>A uc001kin.2 - 53 6180 c.6057C>T c.(6055-6057)ATC>ATT p.I2019I MYOF_uc001kio.2_Silent_p.I2006I|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 2019 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 GGCGCCACACGATGAACTTCA 0.542000 MRGPRX1 259249 broad.mit.edu 37 11 18956197 18956197 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr11:18956197G>A uc001mpg.2 - 1 353 c.135C>T c.(133-135)AAC>AAT p.N45N NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 45 Helical; Name=1; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GCACAACTGCGTTTCCTGTCA 0.577000 MUC15 143662 broad.mit.edu 37 11 26587340 26587340 + Silent SNP A A G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr11:26587340A>G uc001mqx.2 - 2 332 c.66T>C c.(64-66)CAT>CAC p.H22H ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.H49H|MUC15_uc001mqy.2_Silent_p.H49H NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 22 extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTTCTTTTCCATGGCTCCCCG 0.328000 ZBTB44 29068 broad.mit.edu 37 11 130109742 130109742 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr11:130109742C>T uc001qga.2 - 3 1462 c.1068G>A c.(1066-1068)ACG>ACA p.T356T ZBTB44_uc001qgb.3_Silent_p.T356T|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Silent_p.T356T|ZBTB44_uc001qfz.2_Silent_p.T356T NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TAGTGCTAGACGTGCTTTGAA 0.438000 SRGAP1 57522 broad.mit.edu 37 12 64488927 64488929 + Missense_Mutation TNP TTC TTC AAA TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr12:64488927_64488929TTC>AAA uc010ssp.1 + 14 1677_1679 c.1621_1623TTC>AAA c.(1621-1623)TTC>AAA p.F541K SRGAP1_uc001srv.2_Missense_Mutation_p.F478K NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 541 Rho-GAP. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TCAGGGGATTTTCAGAGTGTCTG 0.404000 RSRC2 65117 broad.mit.edu 37 12 122995657 122995657 + Silent SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr12:122995657T>C uc001ucr.2 - 7 950 c.804A>G c.(802-804)GCA>GCG p.A268A RSRC2_uc001uco.2_Silent_p.A36A|RSRC2_uc001ucp.2_Silent_p.A209A|RSRC2_uc001ucq.2_Silent_p.A36A|RSRC2_uc001ucs.2_Silent_p.A36A|RSRC2_uc001uct.2_Silent_p.A220A|RSRC2_uc001ucu.2_Silent_p.A268A NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 268 Potential. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) AAAAATTACCTGCAGCTATTT 0.244000 NUPL1 9818 broad.mit.edu 37 13 25882042 25882042 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr13:25882042G>C uc001uqi.2 + 2 452 c.206G>C c.(205-207)GGA>GCA p.G69A NUPL1_uc001uqg.1_Missense_Mutation_p.G69A|NUPL1_uc001uqj.2_Missense_Mutation_p.G69A NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 69 14 X 2 AA repeats of F-G.|5. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) GGGCTCTTTGGATCTAAACCT 0.458000 DCLK1 9201 broad.mit.edu 37 13 36686282 36686282 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr13:36686282G>T uc001uvf.2 - 3 680 c.447C>A c.(445-447)AAC>AAA p.N149K NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 149 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TCACCGACCAGTTGGGGTTCA 0.468000 GPC5 2262 broad.mit.edu 37 13 92345708 92345708 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr13:92345708G>A uc010tif.1 + 3 959 c.593G>A c.(592-594)CGC>CAC p.R198H NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 198 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) CGGATGGCTCGCCGGGATGTG 0.502000 ZNF219 51222 broad.mit.edu 37 14 21561022 21561022 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:21561022G>T uc001vzr.2 - 3 855 c.434C>A c.(433-435)GCC>GAC p.A145D ZNF219_uc001vzs.2_Missense_Mutation_p.A145D|ZNF219_uc010aik.1_Missense_Mutation_p.A145D NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 145 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) GGCAGGGGTGGCCTGCATGCC 0.677000 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SSTR1 6751 broad.mit.edu 37 14 38678850 38678850 + Missense_Mutation SNP T T A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:38678850T>A uc001wul.1 + 3 873 c.256T>A c.(256-258)TAT>AAT p.Y86N SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 86 Cytoplasmic (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) GATCCTGCGCTATGCCAAGAT 0.557000 C14orf182 283551 broad.mit.edu 37 14 50472506 50472506 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:50472506C>T uc001wxi.1 - 1 1733 c.12G>A c.(10-12)CGG>CGA p.R4R NM_001012706 NP_001012724 A1A4T8 CN182_HUMAN hypothetical protein LOC283551 4 0 GGGTTGCCATCCGACCTGTCA 0.512000 KIAA0586 9786 broad.mit.edu 37 14 58934502 58934502 + Silent SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:58934502C>G uc001xdv.3 + 15 2349 c.2076C>G c.(2074-2076)GTC>GTG p.V692V KIAA0586_uc010trr.1_Silent_p.V809V|KIAA0586_uc001xdt.3_Silent_p.V724V|KIAA0586_uc001xdu.3_Silent_p.V753V|KIAA0586_uc010trs.1_Silent_p.V683V|KIAA0586_uc010trt.1_Silent_p.V628V|KIAA0586_uc010tru.1_Silent_p.V628V NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 692 ovary(1) 1 GAGTGATTGTCAGCAAGCCAC 0.388000 AP4E1 23431 broad.mit.edu 37 15 51250862 51250862 + Missense_Mutation SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr15:51250862A>C uc001zyx.1 + 14 1752 c.1722A>C c.(1720-1722)TTA>TTC p.L574F NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 574 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TTGAGAGATTAATCCATGAAT 0.363000 IGDCC4 57722 broad.mit.edu 37 15 65678955 65678955 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr15:65678955C>T uc002aou.1 - 17 3095 c.2885G>A c.(2884-2886)GGT>GAT p.G962D IGDCC4_uc002aot.1_Missense_Mutation_p.G550D NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 962 Helical; (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CAGGCAGACACCCACGATGAT 0.642000 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IQGAP1 8826 broad.mit.edu 37 15 90984881 90984881 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr15:90984881G>A uc002bpl.1 + 8 894 c.793G>A c.(793-795)GCT>ACT p.A265T NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 265 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) ACTTTACCAGGCTAAGCAGGA 0.373000 CHD2 1106 broad.mit.edu 37 15 93567880 93567880 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr15:93567880G>A uc002bsp.2 + 39 6007 c.5432G>A c.(5431-5433)AGA>AAA p.R1811K NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1811 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTTTGGAGAGATCACTAGAA 0.478000 DNAH3 55567 broad.mit.edu 37 16 21031006 21031006 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr16:21031006C>G uc010vbe.1 - 41 5962 c.5962G>C c.(5962-5964)GAT>CAT p.D1988H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1988 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GGGTGGTTATCATCCATGCCC 0.423000 SRCAP 10847 broad.mit.edu 37 16 30715408 30715408 + Silent SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr16:30715408C>G uc002dze.1 + 4 463 c.78C>G c.(76-78)GGC>GGG p.G26G SRCAP_uc002dzf.2_RNA NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 26 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCATGACAGGCAGCAATCCTG 0.418000 CNTNAP4 85445 broad.mit.edu 37 16 76572099 76572099 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr16:76572099G>A uc002feu.1 + 21 3467 c.3082G>A c.(3082-3084)GCT>ACT p.A1028T CNTNAP4_uc002fev.1_Missense_Mutation_p.A892T|CNTNAP4_uc010chb.1_Missense_Mutation_p.A955T|CNTNAP4_uc002fex.1_Missense_Mutation_p.A1031T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1028 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAGCTCCCACGCTGCTTCATT 0.363000 SPATA22 84690 broad.mit.edu 37 17 3349846 3349846 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr17:3349846C>G uc002fvm.2 - 7 959 c.722G>C c.(721-723)AGA>ACA p.R241T SPATA22_uc010vrg.1_Missense_Mutation_p.R225T|SPATA22_uc010vrf.1_Missense_Mutation_p.R241T|SPATA22_uc002fvn.2_Missense_Mutation_p.R241T|SPATA22_uc002fvo.2_Missense_Mutation_p.R241T|SPATA22_uc002fvp.2_Missense_Mutation_p.R241T|SPATA22_uc010ckf.2_Missense_Mutation_p.R198T NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 241 0 AGAAATAATTCTTAAAGAACT 0.269000 PCGF2 7703 broad.mit.edu 37 17 36895901 36895901 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr17:36895901G>A uc002hqp.1 - 4 390 c.147C>T c.(145-147)ACC>ACT p.T49T PCGF2_uc002hqn.1_Silent_p.T49T|PCGF2_uc002hqo.1_Silent_p.T49T|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Silent_p.T49T NM_007144 NP_009075 P35227 PCGF2_HUMAN ring finger protein 110 49 RING-type. negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 Breast(7;9.07e-22) AGTATTTGTTGGTCTCCAGGT 0.607000 CDK12 51755 broad.mit.edu 37 17 37649112 37649112 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr17:37649112C>T uc010cvv.2 + 4 2803 c.2217C>T c.(2215-2217)GGC>GGT p.G739G CDK12_uc010wef.1_Silent_p.G738G|CDK12_uc002hrw.3_Silent_p.G739G NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 739 ATP (By similarity).|Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 GAACCTATGGCCAAGTATATA 0.378000 TCGA Ovarian(9;0.13) TRIM37 4591 broad.mit.edu 37 17 57109276 57109276 + Silent SNP A A T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr17:57109276A>T uc002iwy.3 - 18 2373 c.1929T>A c.(1927-1929)GCT>GCA p.A643A TRIM37_uc002iwz.3_Silent_p.A643A|TRIM37_uc002ixa.3_Silent_p.A521A|TRIM37_uc010woc.1_Silent_p.A609A NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 643 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCAGAAGTGAAGCAGGTGGGC 0.368000 Mulibrey_Nanism EVI5L 115704 broad.mit.edu 37 19 7914143 7914143 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:7914143C>T uc002min.2 + 5 708 c.554C>T c.(553-555)GCA>GTA p.A185V EVI5L_uc010xjz.1_Missense_Mutation_p.A185V|EVI5L_uc002mio.1_5'Flank NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 185 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CCCTTCTAGGCATACTCGCTG 0.652000 LDLR 3949 broad.mit.edu 37 19 11218184 11218184 + Nonsense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:11218184G>T uc002mqk.3 + 6 1102 c.934G>T c.(934-936)GAG>TAG p.E312* LDLR_uc010xlk.1_Nonsense_Mutation_p.E312*|LDLR_uc010xll.1_Nonsense_Mutation_p.E271*|LDLR_uc010xlm.1_Nonsense_Mutation_p.E165*|LDLR_uc010xln.1_Nonsense_Mutation_p.E185*|LDLR_uc010xlo.1_Nonsense_Mutation_p.E144* NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 312 Extracellular (Potential).|LDL-receptor class A 7. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) ACCCATCAAAGAGTGCGGTGA 0.552000 PSG1 5669 broad.mit.edu 37 19 43372329 43372329 + Silent SNP G G A rs142917150 TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:43372329G>A uc002ovb.2 - 5 1305 c.1167C>T c.(1165-1167)AGC>AGT p.S389S PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Silent_p.S389S|PSG1_uc010eio.1_Silent_p.S389S|PSG1_uc002oux.1_Silent_p.S318S|PSG1_uc002ouy.1_Silent_p.S296S|PSG1_uc002ouz.1_Silent_p.S389S|PSG1_uc002ova.1_Silent_p.S296S|PSG1_uc002ovc.2_Silent_p.S296S|PSG1_uc002ovd.1_Silent_p.S389S NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 389 Ig-like C2-type 3. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) CATAGAGCCCGCTATGCTTTG 0.468000 LRRC4B 94030 broad.mit.edu 37 19 51021716 51021716 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:51021716G>A uc002pss.2 - 3 1391 c.1254C>T c.(1252-1254)GAC>GAT p.D418D NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 418 Extracellular (Potential).|Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TAAGCGTGCCGTCATGCAGGA 0.652000 SIGLEC14 100049587 broad.mit.edu 37 19 52148732 52148732 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:52148732G>C uc002pxf.3 - 4 872 c.752C>G c.(751-753)ACA>AGA p.T251R NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 251 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TTTCCTACCTGTGCCTGTGCC 0.552000 HAS1 3036 broad.mit.edu 37 19 52220238 52220238 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr19:52220238C>G uc002pxo.1 - 3 946 c.911G>C c.(910-912)TGC>TCC p.C304S HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.C269S|HAS1_uc002pxn.1_Missense_Mutation_p.C311S|HAS1_uc002pxp.1_Missense_Mutation_p.C303S NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 304 Cytoplasmic (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ACCGCTGATGCAGGATACACA 0.507000 NRXN1 9378 broad.mit.edu 37 2 51255085 51255085 + Silent SNP A A C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:51255085A>C uc010fbq.2 - 2 1804 c.327T>G c.(325-327)GTT>GTG p.V109V NRXN1_uc002rxe.3_Silent_p.V109V|NRXN1_uc002rxd.1_Silent_p.V109V NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGCCGTCGTTAACCGGCGTGT 0.662000 ANKRD53 79998 broad.mit.edu 37 2 71211788 71211788 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:71211788C>T uc002shl.3 + 6 1152 c.951C>T c.(949-951)CAC>CAT p.H317H ANKRD53_uc002shk.3_3'UTR|ANKRD53_uc002shm.3_3'UTR NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 317 0 AGTGGCTCCACGGCAAGCTGC 0.572000 OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ST6GAL2 84620 broad.mit.edu 37 2 107459775 107459775 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:107459775C>T uc002tdq.2 - 2 778 c.659G>A c.(658-660)CGC>CAC p.R220H ST6GAL2_uc002tdr.2_Missense_Mutation_p.R220H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R220H NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 220 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CTTCTGCAGGCGCGGGTTCAG 0.647000 ZNF385B 151126 broad.mit.edu 37 2 180309654 180309654 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:180309654C>T uc002unn.3 - 9 1750 c.1146G>A c.(1144-1146)AAG>AAA p.K382K ZNF385B_uc002unj.2_Silent_p.K280K|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.K279K|ZNF385B_uc002unm.2_Silent_p.K306K NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 382 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TGTATTTTGGCTTCAGTGGTT 0.468000 DNAH7 56171 broad.mit.edu 37 2 196749409 196749409 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:196749409G>A uc002utj.3 - 35 5764 c.5663C>T c.(5662-5664)ACG>ATG p.T1888M NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1888 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TAATTTAAACGTATTTCGAGT 0.363000 COL6A3 1293 broad.mit.edu 37 2 238249780 238249780 + Missense_Mutation SNP G G C rs144249704 TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr2:238249780G>C uc002vwl.2 - 38 8064 c.7779C>G c.(7777-7779)ATC>ATG p.I2593M COL6A3_uc002vwo.2_Missense_Mutation_p.I2387M|COL6A3_uc010znj.1_Missense_Mutation_p.I1986M|COL6A3_uc002vwj.2_Translation_Start_Site NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2593 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGGATGGGTCGATGTTGCAGA 0.527000 OTOR 56914 broad.mit.edu 37 20 16730657 16730657 + Splice_Site SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr20:16730657T>C uc002wpj.2 + 3 407 c.363_splice c.e3+2 p.T121_splice OTOR_uc002wpk.2_Splice_Site NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN otoraplin precursor sensory perception of sound extracellular region ovary(1)|central_nervous_system(1) 2 CCCACCACGGTAAGCATCTCA 0.483000 CST8 10047 broad.mit.edu 37 20 23472436 23472436 + Silent SNP C C T rs150145986 TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr20:23472436C>T uc002wth.1 + 2 489 c.132C>T c.(130-132)AAC>AAT p.N44N NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 44 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CAAATGCCAACGTGAAGCAGT 0.507000 PTGIS 5740 broad.mit.edu 37 20 48124559 48124559 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr20:48124559G>C uc002xut.2 - 10 1455 c.1401C>G c.(1399-1401)ATC>ATG p.I467M PTGIS_uc010zyi.1_Missense_Mutation_p.I328M NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 467 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CATCTGCGTTGATCAGCTCCA 0.577000 KCNJ6 3763 broad.mit.edu 37 21 39086934 39086934 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr21:39086934C>T uc011aej.1 - 3 579 c.526G>A c.(526-528)GTG>ATG p.V176M KCNJ6_uc002ywo.2_Missense_Mutation_p.V176M NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 176 Helical; Name=M2; (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) GACCCCAACACAGATTGGATT 0.433000 MCM3AP 8888 broad.mit.edu 37 21 47664820 47664820 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr21:47664820G>A uc002zir.1 - 23 4975 c.4939C>T c.(4939-4941)CTT>TTT p.L1647F MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L142F|MCM3AP_uc002zip.1_Missense_Mutation_p.L388F|MCM3AP_uc002ziq.1_Missense_Mutation_p.L574F|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1647 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGGTGAGGAAGCAGCCGGCTG 0.632000 SUSD2 56241 broad.mit.edu 37 22 24583266 24583266 + Missense_Mutation SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr22:24583266T>G uc002zzn.1 + 11 1783 c.1739T>G c.(1738-1740)GTG>GGG p.V580G NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 580 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TTCCTGAGTGTGTCCGTCCTG 0.662000 ACO2 50 broad.mit.edu 37 22 41923306 41923306 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr22:41923306G>A uc003bac.2 + 16 1990 c.1968G>A c.(1966-1968)AGG>AGA p.R656R ACO2_uc003bad.2_Silent_p.R681R|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 656 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 ATGGCATCAGGTGGGTGGTGA 0.637000 OREG0026589 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PKDREJ 10343 broad.mit.edu 37 22 46658193 46658193 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr22:46658193C>T uc003bhh.2 - 1 1027 c.1027G>A c.(1027-1029)GAT>AAT p.D343N NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 343 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATGTTGGCATCGCCAAGCATC 0.572000 CNTN6 27255 broad.mit.edu 37 3 1337484 1337484 + Silent SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr3:1337484T>G uc003boz.2 + 6 921 c.654T>G c.(652-654)ACT>ACG p.T218T CNTN6_uc010hbo.2_Silent_p.T213T|CNTN6_uc011asj.1_Silent_p.T146T|CNTN6_uc003bpa.2_Silent_p.T218T NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 218 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGCAGCGCACTGATGGTAAGA 0.438000 CACNA2D3 55799 broad.mit.edu 37 3 54871251 54871251 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr3:54871251C>T uc003dhf.2 + 15 1512 c.1464C>T c.(1462-1464)AAC>AAT p.N488N CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Silent_p.N394N|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Silent_p.N222N NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 488 Extracellular (Potential).|Cache. 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) GTAAGCAGAACGAAACCGTGA 0.517000 C3orf52 79669 broad.mit.edu 37 3 111828417 111828417 + Missense_Mutation SNP T T G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr3:111828417T>G uc003dyq.3 + 4 497 c.424T>G c.(424-426)TCT>GCT p.S142A C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_5'Flank NM_024616 NP_078892 Q5BVD1 TTMP_HUMAN TPA-induced transmembrane protein 142 endoplasmic reticulum membrane|integral to membrane 0 TACATCGCCCTCTCTGGGTCG 0.413000 PODXL2 50512 broad.mit.edu 37 3 127381088 127381088 + Nonsense_Mutation SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr3:127381088C>A uc003ejq.2 + 4 1164 c.1140C>A c.(1138-1140)TGC>TGA p.C380* NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 380 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 AGGTGATCTGCAAGGACTGGA 0.547000 RASGEF1B 153020 broad.mit.edu 37 4 82355019 82355019 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr4:82355019G>A uc003hmi.1 - 12 1443 c.1299C>T c.(1297-1299)CTC>CTT p.L433L RASGEF1B_uc003hmj.1_Silent_p.L432L|RASGEF1B_uc010ijq.1_Silent_p.L391L NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 433 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 CTGGTACTGTGAGCAGATACT 0.423000 HNRNPA0 10949 broad.mit.edu 37 5 137089636 137089636 + Silent SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr5:137089636C>T uc003lbt.2 - 1 404 c.120G>A c.(118-120)GTG>GTA p.V40V MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_Intron NM_006805 NP_006796 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 40 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTGGGGATTCACCACCACCA 0.642000 GRIA1 2890 broad.mit.edu 37 5 153030042 153030042 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr5:153030042G>A uc003lva.3 + 4 978 c.613G>A c.(613-615)GAA>AAA p.E205K GRIA1_uc003luy.3_Missense_Mutation_p.E205K|GRIA1_uc003luz.3_Missense_Mutation_p.E110K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.E125K|GRIA1_uc011dcx.1_Missense_Mutation_p.E136K|GRIA1_uc011dcy.1_Missense_Mutation_p.E215K|GRIA1_uc011dcz.1_Missense_Mutation_p.E215K|GRIA1_uc010jia.1_Missense_Mutation_p.E185K NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 205 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGTGGACTGTGAATCAGAACG 0.532000 FLT4 2324 broad.mit.edu 37 5 180040051 180040051 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr5:180040051C>T uc003mma.3 - 25 3470 c.3391G>A c.(3391-3393)GGC>AGC p.G1131S FLT4_uc003mlz.3_Missense_Mutation_p.G1131S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1131 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATCCTTGTGCCGTCTCTCAGC 0.667000 Congenital_Hereditary_Lymphedema HIST1H2AC 8334 broad.mit.edu 37 6 26124688 26124688 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr6:26124688G>C uc003ngm.2 + 1 316 c.228G>C c.(226-228)AAG>AAC p.K76N HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.K76N NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 76 nucleosome assembly nucleosome|nucleus DNA binding 0 ACAACAAGAAGACTCGCATCA 0.657000 HIST1H2AM 8336 broad.mit.edu 37 6 27860703 27860703 + Silent SNP T T C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr6:27860703T>C uc003nkb.1 - 1 261 c.225A>G c.(223-225)AAA>AAG p.K75K HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 75 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 TGCGGGTCTTTTTGTTGTCGC 0.642000 LRFN2 57497 broad.mit.edu 37 6 40359893 40359893 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr6:40359893C>T uc003oph.1 - 3 2624 c.2159G>A c.(2158-2160)CGC>CAC p.R720H NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 720 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GGAGTGGCTGCGTTTGGCCTT 0.711000 AUTS2 26053 broad.mit.edu 37 7 70231198 70231198 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr7:70231198G>A uc003tvw.3 + 9 2310 c.1567G>A c.(1567-1569)GAG>AAG p.E523K AUTS2_uc003tvx.3_Missense_Mutation_p.E523K|AUTS2_uc011keg.1_5'Flank NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 523 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCTGCGGACCGAGTTCCATca 0.463000 PCLO 27445 broad.mit.edu 37 7 82764926 82764926 + Missense_Mutation SNP C C G TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr7:82764926C>G uc003uhx.2 - 3 2229 c.1940G>C c.(1939-1941)GGC>GCC p.G647A PCLO_uc003uhv.2_Missense_Mutation_p.G647A NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 593 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CAGATCCCCGCCTAGAGCTCT 0.448000 PTPRN2 5799 broad.mit.edu 37 7 157414082 157414082 + Silent SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr7:157414082G>A uc003wno.2 - 15 2437 c.2316C>T c.(2314-2316)CCC>CCT p.P772P PTPRN2_uc003wnp.2_Silent_p.P755P|PTPRN2_uc003wnq.2_Silent_p.P743P|PTPRN2_uc003wnr.2_Silent_p.P734P|PTPRN2_uc011kwa.1_Silent_p.P795P NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 772 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGCGGTTCTTGGGCACGTTCT 0.637000 LZTS1 11178 broad.mit.edu 37 8 20110556 20110556 + Missense_Mutation SNP C C T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr8:20110556C>T uc003wzr.2 - 2 997 c.886G>A c.(886-888)GAG>AAG p.E296K LZTS1_uc010ltg.1_Missense_Mutation_p.E296K NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 296 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GGCCGCTCCTCGTAGGCCAGG 0.677000 ASAP1 50807 broad.mit.edu 37 8 131088602 131088602 + Missense_Mutation SNP G G T TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr8:131088602G>T uc003yta.1 - 26 2721 c.2693C>A c.(2692-2694)CCT>CAT p.P898H ASAP1_uc003ysz.1_Missense_Mutation_p.P709H|ASAP1_uc011liw.1_Missense_Mutation_p.P891H NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 898 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 ACCTTTCTGAGGTAGTTTAGG 0.284000 ARHGAP39 80728 broad.mit.edu 37 8 145773557 145773557 + Missense_Mutation SNP G G A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr8:145773557G>A uc003zdt.1 - 6 1468 c.913C>T c.(913-915)CGC>TGC p.R305C ARHGAP39_uc011llk.1_Missense_Mutation_p.R305C|ARHGAP39_uc003zds.1_Missense_Mutation_p.R305C NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 305 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 TAGCCATAGCGCGGGGAGGAG 0.692000 PHF2 5253 broad.mit.edu 37 9 96438029 96438029 + Silent SNP C C T rs148663364 TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr9:96438029C>T uc004aub.2 + 20 2937 c.2790C>T c.(2788-2790)ATC>ATT p.I930I PHF2_uc011lug.1_Silent_p.I813I|PHF2_uc004auc.2_Silent_p.I350I NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 930 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TGGCTTCCATCGAGACCGGGC 0.657000 OR5C1 392391 broad.mit.edu 37 9 125551994 125551994 + Missense_Mutation SNP C C A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr9:125551994C>A uc011lzd.1 + 1 783 c.783C>A c.(781-783)TTC>TTA p.F261L NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 261 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 CACTCATTTTCATGTACCTGC 0.587000 CYLC1 1538 broad.mit.edu 37 X 83128123 83128123 + Missense_Mutation SNP G G C TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chrX:83128123G>C uc004eei.1 + 4 428 c.407G>C c.(406-408)GGT>GCT p.G136A CYLC1_uc004eeh.1_Missense_Mutation_p.G135A NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 136 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 AAAAAAGGAGGTTCATATGCA 0.318000 ARHGEF16 27237 broad.mit.edu 37 1 3396111 3396112 + Frame_Shift_Del DEL CA CA - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr1:3396111_3396112delCA uc001akg.3 + 13 2093_2094 c.1845_1846delCA c.(1843-1848)CTCACAfs p.L615fs ARHGEF16_uc001aki.2_Frame_Shift_Del_p.L327fs|ARHGEF16_uc001akj.2_Frame_Shift_Del_p.L327fs|ARHGEF16_uc010nzh.1_Frame_Shift_Del_p.L319fs NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 615_616 PH. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCGTGGCGCTCACACACAGTGA 0.653 C16orf11 146325 broad.mit.edu 37 16 614731 614731 + Frame_Shift_Del DEL T T - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr16:614731delT uc002chk.2 + 3 1419 c.1140delT c.(1138-1140)CCTfs p.P380fs NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 380 Pro-rich. central_nervous_system(1) 1 CAGGCGGCCCTGAGACCCCCG 0.731 OR5H2 79310 broad.mit.edu 37 3 98001984 98001985 + Frame_Shift_Ins INS - - A TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr3:98001983_98001984C>CA uc003dsj.1 + 0 252_253 c.252_253C>CA c.(250-255)cccaaafs p.P84fs NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P84P(2) breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CAGTAACTCCCAAAATGTTGGT 0.376 GALNTL4 374378 broad.mit.edu 37 11 11400693 11400716 + In_Frame_Del DEL GCCACTGACCCTGGAGCGGATGAG GCCACTGACCCTGGAGCGGATGAG - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr11:11400692_11400715AGCCACTGACCCTGGAGCGGATGAG>A uc001mjo.2 - 3 1113_1136 c.692_715CTCATCCGCTCCAGGGTCAGTGGCT>T c.(691-717)ctcatccgctccagggtcagtggctgg>cTgg p.IRSRVSGW232del NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA. 232 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 all cancers(16;3.67e-05)|Epithelial(150;0.000184) GCCGCCCTCCAGCCACTGACCCTGGAGCGGATGAGGCCTTCCTG 0.585 NUP107 57122 broad.mit.edu 37 12 69096558 69096558 + Frame_Shift_Del DEL A A - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr12:69096557_69096557CA>C uc001suf.3 + 7 837 c.722_722CA>C c.(721-723)gcafs p.A241fs NUP107_uc001sug.3_Frame_Shift_Del_p.A88fs|NUP107_uc010stj.2_Frame_Shift_Del_p.A212fs NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 241 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AGTGTATTCGCAGTTACTGTA 0.274 BAZ1A 11177 broad.mit.edu 37 14 35343708 35343708 + Frame_Shift_Del DEL G G - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:35343707_35343707CG>C uc001wsk.3 - 1 672 c.104_104CG>G c.(103-105)cgcfs p.R35fs BAZ1A_uc001wsl.3_Frame_Shift_Del_p.R35fs|BAZ1A_uc001wsm.1_Frame_Shift_Del_p.R35fs NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA. 35 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTCGTAGTGGCGGAAGATCTC 0.637 PPP1R13B 23368 broad.mit.edu 37 14 104251213 104251245 + In_Frame_Del DEL GATGTTCGTACATCATATGATCAAAGGGTATGG GATGTTCGTACATCATATGATCAAAGGGTATGG - TCGA-CG-4304-01A-01D-1158-08 TCGA-CG-4304-10A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb2c02fb-8044-4ead-b526-a4967c300a77 515dd0bb-8739-48bb-bc81-b3d40f6992cb g.chr14:104251212_104251244AGATGTTCGTACATCATATGATCAAAGGGTATGG>A uc001yof.1 - 2 448_480 c.165_197CCATACCCTTTGATCATATGATGTACGAACATCT>T c.(163-198)cccataccctttgatcatatgatgtacgaacatctt>ccTt p.IPFDHMMYEHL56del PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA. 56 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding p.E64*(2)|p.P57P(2)|p.M61I(2) endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) CCATTTCTGAAGATGTTCGTACATCATATGATCAAAGGGTATGGGACGTTCTA 0.378