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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF10 343071 broad.mit.edu 37 1 12954474 12954474 + Missense_Mutation SNP T T A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:12954474T>A uc001auo.2 - 3 882 c.809A>T c.(808-810)CAG>CTG p.Q270L NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 270 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATAAAGCATCTGGGGGTAGTA 0.473 NA 41 165 0 0 0 0 CTRC 11330 broad.mit.edu 37 1 15771229 15771229 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:15771229G>A uc001awi.1 + 6 645 c.622G>A c.(622-624)GTC>ATC p.V208I CTRC_uc001awj.1_Intron NM_007272 NP_009203 Q99895 CTRC_HUMAN chymotrypsin C preproprotein 208 Peptidase S1. proteolysis serine-type endopeptidase activity 0 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCGATGGCGTCATCTCAGC 0.612 NA 9 55 0 0 0 0 SLC9A1 6548 broad.mit.edu 37 1 27427055 27427055 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:27427055C>T uc001bnm.2 - 12 2817 c.2191G>A c.(2191-2193)GAC>AAC p.D731N SLC9A1_uc001bnl.2_Missense_Mutation_p.D235N|SLC9A1_uc010ofk.1_Missense_Mutation_p.D392N NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 731 Cytoplasmic (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TTCACCAGGTCCACAGACTCG 0.602 NA 61 246 0 0 0 0 WASF2 10163 broad.mit.edu 37 1 27736225 27736225 + Missense_Mutation SNP T T A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:27736225T>A uc001bof.1 - 8 1516 c.1300A>T c.(1300-1302)AGC>TGC p.S434C WASF2_uc010ofl.1_Intron NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 434 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) CGGGCATCGCTCACGGCAGGC 0.577 NA 12 72 0 0 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800237 28800237 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:28800237C>G uc001bpw.2 + 7 1277 c.995C>G c.(994-996)TCG>TGG p.S332W PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.S316W|PHACTR4_uc001bpy.2_Missense_Mutation_p.S342W NM_001048183 NP_001041648 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 isoform 1 332 Pro-rich. actin binding|protein phosphatase inhibitor activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCTATGGGCTCGGAACTACTA 0.537 NA 35 122 0 0 0 0 AK2 204 broad.mit.edu 37 1 33502361 33502361 + Silent SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:33502361A>G uc001bwp.1 - 1 111 c.69T>C c.(67-69)CCT>CCC p.P23P AK2_uc001bwo.1_Silent_p.P23P|AK2_uc010ohq.1_Silent_p.P23P|AK2_uc009vud.1_Silent_p.P23P|AK2_uc010ohr.1_5'UTR|AK2_uc001bwq.1_5'UTR NM_001625 NP_001616 P54819 KAD2_HUMAN adenylate kinase 2 isoform a 23 ATP (By similarity). nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CGGCCCCGGGAGGCCCCAGCA 0.667 NA 2 10 0 0 0 0 ZMYM4 9202 broad.mit.edu 37 1 35853113 35853113 + Missense_Mutation SNP A A T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:35853113A>T uc001byt.2 + 13 2251 c.2171A>T c.(2170-2172)AAT>ATT p.N724I ZMYM4_uc009vuu.2_Missense_Mutation_p.N692I|ZMYM4_uc001byu.2_Missense_Mutation_p.N400I|ZMYM4_uc009vuv.2_Missense_Mutation_p.N463I NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 724 MYM-type 7. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAAATAAATAATGTAATGGCA 0.318 NA 12 34 0 0 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778261 111778261 + Nonsense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:111778261G>T uc001eam.2 + 6 552 c.481G>T c.(481-483)GAG>TAG p.E161* CHI3L2_uc001ean.2_Nonsense_Mutation_p.E151*|CHI3L2_uc001eao.2_Nonsense_Mutation_p.E82*|CHI3L2_uc009wga.2_Nonsense_Mutation_p.E82* NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 161 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) TTTTTCCTAGGAGTTAGCAGA 0.448 NA 28 79 2.45e-14 2.95e-14 1 0 TADA1 117143 broad.mit.edu 37 1 166826916 166826916 + Missense_Mutation SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:166826916A>G uc001gdw.2 - 8 1080 c.896T>C c.(895-897)CTT>CCT p.L299P TADA1_uc001gdv.2_Missense_Mutation_p.L157P NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 299 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 TTCAATGTTAAGAGCATAGAC 0.438 NA 26 63 0 0 0 0 LAMC1 3915 broad.mit.edu 37 1 183095288 183095288 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:183095288G>A uc001gpy.3 + 16 3092 c.2835G>A c.(2833-2835)GGG>GGA p.G945G NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 945 Laminin EGF-like 10. 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) CCACCAATGGGCAGTGTGACA 0.507 NA 14 41 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196197396 196197396 + Nonsense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:196197396G>T uc001gtd.1 - 28 3426 c.3366C>A c.(3364-3366)TGC>TGA p.C1122* KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.C1055*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.C1098*|KCNT2_uc001gtg.1_RNA NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1122 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CAGTGACATTGCAGATGCTGT 0.363 NA 5 23 0.000602214 0.000666649 1 0 CNTN2 6900 broad.mit.edu 37 1 205034950 205034950 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:205034950G>A uc001hbr.2 + 14 1998 c.1729G>A c.(1729-1731)GCC>ACC p.A577T CNTN2_uc001hbq.1_Missense_Mutation_p.A468T|CNTN2_uc001hbs.2_Missense_Mutation_p.A365T NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 577 Ig-like C2-type 6. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CATCCTGAACGCCCAGCTGCG 0.642 NA 15 53 0 0 0 0 ACBD3 64746 broad.mit.edu 37 1 226334387 226334387 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:226334387T>C uc001hpy.2 - 8 1558 c.1511A>G c.(1510-1512)TAT>TGT p.Y504C NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN acyl-Coenzyme A binding domain containing 3 504 GOLD. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CTTGAGGAGATAGACTCCTCT 0.453 NA 18 81 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228431117 228431117 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr1:228431117G>A uc009xez.1 + 10 3207 c.3163G>A c.(3163-3165)GAG>AAG p.E1055K OBSCN_uc001hsn.2_Missense_Mutation_p.E1055K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1055 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTACAGCTGCGAGGCCAGGGG 0.552 NA 8 35 0 0 0 0 FRMD4A 55691 broad.mit.edu 37 10 13698719 13698719 + Missense_Mutation SNP G G A rs143274194 TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:13698719G>A uc001ims.2 - 22 3222 c.2870C>T c.(2869-2871)TCG>TTG p.S957L FRMD4A_uc009xjf.1_Missense_Mutation_p.S957L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 957 Ser-rich. cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GCTGTACTGCGAGCCGCTGTC 0.667 NA 4 37 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17126460 17126460 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:17126460G>A uc001ioo.2 - 17 2163 c.2111C>T c.(2110-2112)TCG>TTG p.S704L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 704 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACGCAGATCCGCTAAGAACAG 0.502 NA 7 17 0 0 0 0 TFAM 7019 broad.mit.edu 37 10 60148561 60148561 + Missense_Mutation SNP A A T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:60148561A>T uc001jkf.2 + 4 555 c.423A>T c.(421-423)AAA>AAT p.K141N TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Missense_Mutation_p.K141N NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 141 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TAAAAAGGAAAGCTATGACAA 0.264 NA 19 69 0 0 0 0 DUPD1 338599 broad.mit.edu 37 10 76803647 76803647 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:76803647C>G uc001jwq.1 - 2 329 c.329G>C c.(328-330)GGC>GCC p.G110A NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 110 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GGCCTCCACGCCGTGGTACTG 0.637 NA 21 69 0 0 0 0 RRP12 23223 broad.mit.edu 37 10 99132919 99132919 + Missense_Mutation SNP A A C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:99132919A>C uc001knf.2 - 18 2204 c.2065T>G c.(2065-2067)TTT>GTT p.F689V RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.F407V|RRP12_uc010qou.1_Missense_Mutation_p.F628V|RRP12_uc009xvn.2_Missense_Mutation_p.F589V NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 689 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) ATCGGCAGAAAGTTCTTGGCA 0.567 NA 4 74 0 0 0 0 SORCS3 22986 broad.mit.edu 37 10 106960976 106960976 + Silent SNP A A C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr10:106960976A>C uc001kyi.1 + 16 2453 c.2226A>C c.(2224-2226)TCA>TCC p.S742S SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 742 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CAGTGGTCTCAGAACCCTGTG 0.522 NA 15 85 0 0 0 0 SWAP70 23075 broad.mit.edu 37 11 9759763 9759763 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:9759763C>T uc001mhw.2 + 8 1183 c.1084C>T c.(1084-1086)CTG>TTG p.L362L SWAP70_uc001mhv.2_Silent_p.L362L|SWAP70_uc001mhx.2_Silent_p.L304L NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 362 Potential. cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) TGGCTAGAAACTGGAGGAAGC 0.448 NA 11 29 0 0 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466839 57466839 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:57466839C>T uc001nkx.1 + 11 3187 c.1931C>T c.(1930-1932)CCT>CTT p.P644L ZDHHC5_uc001nky.1_Missense_Mutation_p.P591L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P458L NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC domain containing 5 644 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 AAAGCCCAACCTGGTGTCTCT 0.527 NA 22 66 0 0 0 0 NUDT22 84304 broad.mit.edu 37 11 63994371 63994371 + Missense_Mutation SNP G G T rs143695088 by1000genomes TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:63994371G>T uc001nyp.3 + 2 427 c.247G>T c.(247-249)GGC>TGC p.G83C TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Missense_Mutation_p.G83C|NUDT22_uc009ype.2_Missense_Mutation_p.G83C|NUDT22_uc001nyq.3_Missense_Mutation_p.G83C|NUDT22_uc010rng.1_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 83 hydrolase activity 0 CCTGCGCCTGGGCCTTACTTC 0.662 NA 20 75 1.64e-05 1.87e-05 1 0 ACTN3 89 broad.mit.edu 37 11 66330375 66330375 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:66330375G>C uc001oio.1 + 21 2515 c.2497G>C c.(2497-2499)GAC>CAC p.D833H ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 833 focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 AGCCGAGACTGACACGACTGA 0.597 NA 5 161 0 0 0 0 LRFN4 78999 broad.mit.edu 37 11 66626406 66626406 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:66626406C>T uc001ojr.2 + 1 1531 c.1191C>T c.(1189-1191)GCC>GCT p.A397A PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Silent_p.A397A NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 397 Extracellular (Potential). integral to membrane 0 GCACTGCTGCCGAGGGTGAGG 0.731 NA 5 57 0 0 0 0 XRRA1 143570 broad.mit.edu 37 11 74562186 74562186 + Missense_Mutation SNP T T G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:74562186T>G uc009yub.2 - 14 1635 c.1303A>C c.(1303-1305)AAG>CAG p.K435Q XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.K58Q|XRRA1_uc001ovo.2_Missense_Mutation_p.K43Q|XRRA1_uc001ovq.3_Missense_Mutation_p.K348Q|XRRA1_uc001ovp.3_Missense_Mutation_p.K160Q|XRRA1_uc001ovr.2_Missense_Mutation_p.K58Q|XRRA1_uc001ovs.1_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 435 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TTTACTATCTTCCTTCGAATT 0.488 NA 10 35 0 0 0 0 PICALM 8301 broad.mit.edu 37 11 85712203 85712203 + Splice_Site SNP T T A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:85712203T>A uc001pbm.2 - 10 1180 c.894_splice c.e10-1 p.R298_splice PICALM_uc001pbl.2_Splice_Site_p.R298_splice|PICALM_uc001pbn.2_Splice_Site_p.R298_splice|PICALM_uc010rtl.1_Splice_Site_p.R247_splice|PICALM_uc010rtk.1_Splice_Site|PICALM_uc001pbo.1_Splice_Site NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) GTAGTTGCCCTAGGATAATTG 0.443 NA T MLLT10|MLL TALL|AML| 21 75 0 0 0 0 PRSS23 11098 broad.mit.edu 37 11 86518800 86518800 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:86518800G>A uc001pcb.2 + 2 331 c.115G>A c.(115-117)GTC>ATC p.V39I PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.V39I NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 39 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCGCCTCCCTGTCGTCTTGCC 0.537 NA 22 87 0 0 0 0 MMP3 4314 broad.mit.edu 37 11 102709884 102709884 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:102709884G>A uc001phj.1 - 7 1091 c.1026C>T c.(1024-1026)GCC>GCT p.A342A NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 342 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.A342A(1) lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CTTCATATGCGGCATCCACGC 0.378 NA 21 59 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103022985 103022985 + Nonsense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:103022985G>T uc001pho.2 + 21 3211 c.3067G>T c.(3067-3069)GAA>TAA p.E1023* DYNC2H1_uc001phn.1_Nonsense_Mutation_p.E1023*|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1023 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTTAATGATGGAAAGTCACCA 0.303 NA 6 45 0.00198382 0.0021693 1 0 NPAT 4863 broad.mit.edu 37 11 108044157 108044157 + Missense_Mutation SNP T T A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:108044157T>A uc001pjz.3 - 13 1656 c.1554A>T c.(1552-1554)GAA>GAT p.E518D NPAT_uc001pka.2_Missense_Mutation_p.E313D NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 518 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CATTGTTAGCTTCACAACCAA 0.348 NA 19 51 0 0 0 0 VWA5A 4013 broad.mit.edu 37 11 123993667 123993667 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr11:123993667G>A uc001pzu.2 + 8 970 c.761G>A c.(760-762)GGT>GAT p.G254D VWA5A_uc001pzr.2_Missense_Mutation_p.G254D|VWA5A_uc001pzs.2_Missense_Mutation_p.G254D|VWA5A_uc010sae.1_Missense_Mutation_p.G270D|VWA5A_uc001pzt.2_Missense_Mutation_p.G254D NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 254 upper_aerodigestive_tract(1)|ovary(1) 2 TTCTGAACAGGTCATTTGATG 0.383 NA 4 38 0 0 0 0 TMTC1 83857 broad.mit.edu 37 12 29659813 29659813 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr12:29659813C>T uc001rjb.2 - 18 2765 c.2291G>A c.(2290-2292)CGA>CAA p.R764Q TMTC1_uc001riz.2_Missense_Mutation_p.R521Q|TMTC1_uc001rja.2_Missense_Mutation_p.R608Q|TMTC1_uc001riy.2_Missense_Mutation_p.R217Q NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 872 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTCTTGTAATCGTTTTTCTAG 0.448 NA 15 143 0 0 0 0 SILV 6490 broad.mit.edu 37 12 56351770 56351771 + Missense_Mutation DNP GG GG AA TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr12:56351770_56351771GG>AA uc001sip.2 - 5 598_599 c.567_568CC>TT c.(565-570)TACCAT>TATTAT p.H190Y SILV_uc001siq.2_Missense_Mutation_p.H190Y|SILV_uc010spx.1_Missense_Mutation_p.H104Y|SILV_uc001sir.2_Missense_Mutation_p.H190Y NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 190 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 CCCCGGCGATGGTAGACAGTCA 0.579 NA 13 71 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72863583 72863583 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr12:72863583G>T uc001sxa.2 + 4 1256 c.1226G>T c.(1225-1227)TGG>TTG p.W409L NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 409 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 ATGGAGAACTGGGGACTAAGT 0.378 NA 15 67 4.75e-09 5.56e-09 1 0 DNAH10 196385 broad.mit.edu 37 12 124268652 124268652 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr12:124268652C>T uc001uft.3 + 8 1000 c.975C>T c.(973-975)ACC>ACT p.T325T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 325 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) CAGTGTTCACCGAGTTATTCA 0.488 NA 17 62 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132534871 132534871 + Missense_Mutation SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr12:132534871A>G uc001ujn.2 + 39 7239 c.7204A>G c.(7204-7206)AAA>GAA p.K2402E EP400_uc001ujl.2_Missense_Mutation_p.K2401E|EP400_uc001ujm.2_Missense_Mutation_p.K2321E NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2438 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) ATTGCAGAGTAAAAACAACCG 0.507 NA 16 71 0 0 0 0 TGDS 23483 broad.mit.edu 37 13 95230316 95230316 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr13:95230316G>T uc001vlw.2 - 9 889 c.768C>A c.(766-768)AAC>AAA p.N256K TGDS_uc001vlx.2_RNA NM_014305 NP_055120 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 256 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TGGTTCCGATGTTATAAATTT 0.358 NA 7 34 0.00198382 0.0021693 1 0 FAM158A 51016 broad.mit.edu 37 14 24610485 24610485 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr14:24610485G>C uc001wmi.2 - 2 192 c.29C>G c.(28-30)GCC>GGC p.A10G NM_016049 NP_057133 Q9Y3B6 F158A_HUMAN hypothetical protein LOC51016 10 ALA -> GPG (in Ref. 1; AAD34107). 0 CTTCACGTAGGCCAGGGCCGA 0.657 NA OREG0022618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 68 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409742 105409742 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr14:105409742G>T uc010axc.1 - 7 12166 c.12046C>A c.(12046-12048)CTC>ATC p.L4016I AHNAK2_uc001ypx.2_Missense_Mutation_p.L3916I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4016 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGAACGCTGAGGTCAGTGGCC 0.657 NA 113 238 3.68e-61 4.46e-61 1 0 OR4M2 390538 broad.mit.edu 37 15 22369305 22369305 + Missense_Mutation SNP T T G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr15:22369305T>G uc010tzu.1 + 1 730 c.730T>G c.(730-732)TCC>GCC p.S244A LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CACCTGCTATTCCCACATTAC 0.448 NA 19 136 0 0 0 0 ZWILCH 55055 broad.mit.edu 37 15 66828269 66828269 + Splice_Site SNP A A T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr15:66828269A>T uc002aqb.2 + 15 1588 c.1342_splice c.e15-2 p.E448_splice ZWILCH_uc010bhu.1_Splice_Site_p.E334_splice|ZWILCH_uc002aqa.2_Splice_Site_p.E334_splice|ZWILCH_uc010bhv.2_Splice_Site_p.E334_splice NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 TTTTCATTCCAGGAATACTTC 0.343 NA 4 50 0 0 0 0 MAP2K5 5607 broad.mit.edu 37 15 67995696 67995696 + Missense_Mutation SNP C C A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr15:67995696C>A uc002aqu.2 + 16 1647 c.994C>A c.(994-996)CAG>AAG p.Q332K MAP2K5_uc002aqv.2_Missense_Mutation_p.Q332K|MAP2K5_uc002aqw.2_Missense_Mutation_p.Q172K|MAP2K5_uc002aqx.2_Missense_Mutation_p.Q142K NM_145160 NP_660143 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 332 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2) 2 TTCAGGGGAGCAGTATGGAAT 0.423 NA 22 91 1.11e-09 1.3e-09 1 0 CACNA1H 8912 broad.mit.edu 37 16 1260937 1260937 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr16:1260937G>A uc002cks.2 + 21 4437 c.4189G>A c.(4189-4191)GTG>ATG p.V1397M CACNA1H_uc002ckt.2_Missense_Mutation_p.V1397M|CACNA1H_uc002cku.2_Missense_Mutation_p.V103M|CACNA1H_uc010brj.2_Missense_Mutation_p.V103M|CACNA1H_uc002ckv.2_Missense_Mutation_p.V103M NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1397 III.|Helical; Name=S4 of repeat III; (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGTTCTGCGCGTGCTGCGTCT 0.682 NA 39 141 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29884953 29884953 + Silent SNP C C A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr16:29884953C>A uc002duq.3 - 13 2442 c.2202G>T c.(2200-2202)CTG>CTT p.L734L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.L664L|SEZ6L2_uc002dur.3_Silent_p.L664L|SEZ6L2_uc002dus.3_Silent_p.L620L|SEZ6L2_uc010vec.1_Silent_p.L734L|SEZ6L2_uc010ved.1_Silent_p.L690L NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 734 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TGTACCCTGGCAGGCAGCGGT 0.657 NA 6 45 0.00116845 0.00128816 1 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:7578235T>C uc002gim.2 - 6 808 c.614A>G c.(613-615)TAT>TGT p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTCATCCAAATACTCCACACG 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 26 0 0 0 0 MBTD1 54799 broad.mit.edu 37 17 49270365 49270365 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:49270365G>C uc002itr.3 - 15 1812 c.1468C>G c.(1468-1470)CAC>GAC p.H490D MBTD1_uc002itp.3_Missense_Mutation_p.H326D|MBTD1_uc002itq.3_3'UTR NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 490 MBT 4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CGAAATCCGTGATTTGGAACA 0.378 NA 20 99 0 0 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428211 54428211 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:54428211C>T uc002iun.1 + 4 317 c.282C>T c.(280-282)AAC>AAT p.N94N NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 94 large_intestine(1)|ovary(1) 2 CATCTCCCAACGCAGCCAAAC 0.448 NA 9 45 0 0 0 0 ABCA5 23461 broad.mit.edu 37 17 67270205 67270205 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:67270205T>C uc002jif.2 - 19 3877 c.2659A>G c.(2659-2661)AAA>GAA p.K887E ABCA5_uc002jic.2_Missense_Mutation_p.K110E|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.K887E|ABCA5_uc002jih.2_Missense_Mutation_p.K887E|ABCA5_uc010dfe.2_Missense_Mutation_p.K887E NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 887 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) ACAGCATTTTTAAAAGAGTGA 0.323 NA 13 48 0 0 0 0 KCTD2 23510 broad.mit.edu 37 17 73059132 73059132 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:73059132C>T uc002jmp.2 + 6 849 c.782C>T c.(781-783)TCG>TTG p.S261L KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 261 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) GAGAGAGGATCGCGGATGTAA 0.552 NA 4 21 0 0 0 0 CASKIN2 57513 broad.mit.edu 37 17 73500710 73500710 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr17:73500710C>T uc002joc.2 - 12 1807 c.1257G>A c.(1255-1257)GGG>GGA p.G419G CASKIN2_uc010wsc.1_Silent_p.G337G NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 419 cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGAGCTCTGCCCGCTGCCGG 0.642 NA 3 22 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13885391 13885391 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr18:13885391G>A uc002ksp.1 - 2 304 c.127C>T c.(127-129)CTG>TTG p.L43L NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 43 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AGGACGATCAGATTCTCCAAA 0.428 NA 11 30 0 0 0 0 YIPF2 78992 broad.mit.edu 37 19 11038315 11038315 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:11038315G>A uc002mqb.2 - 4 394 c.270C>T c.(268-270)GAC>GAT p.D90D YIPF2_uc002mqc.2_Silent_p.D90D|C19orf52_uc002mqd.1_5'Flank NM_024029 NP_076934 Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 90 Cytoplasmic (Potential). integral to membrane|transport vesicle 0 CCTGTGAGGTGTCCACGTCAA 0.512 NA 7 40 0 0 0 0 ZNF284 342909 broad.mit.edu 37 19 44590486 44590486 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:44590486G>A uc002oyg.1 + 5 1071 c.855G>A c.(853-855)AAG>AAA p.K285K ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) CTGGGGAGAAGCCATTCAAAT 0.393 NA 23 72 0 0 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986513 51986513 + Missense_Mutation SNP A A T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:51986513A>T uc002pwv.1 + 5 1099 c.1099A>T c.(1099-1101)ATC>TTC p.I367F NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 367 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GACACAGCTGATCATGTACAT 0.582 NA 22 57 0 0 0 0 LENG8 114823 broad.mit.edu 37 19 54965698 54965698 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:54965698C>T uc002qfv.1 + 5 549 c.405C>T c.(403-405)CCC>CCT p.P135P LENG8_uc002qfw.2_Silent_p.P172P Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 135 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CCTCAAATCCCCCACATGGGG 0.687 NA 4 24 0 0 0 0 ZNF628 89887 broad.mit.edu 37 19 55995170 55995170 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:55995170G>A uc002qld.2 + 3 3163 c.2598G>A c.(2596-2598)GTG>GTA p.V866V NAT14_uc002qle.1_5'Flank NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN zinc finger protein 628 866 nucleus DNA binding|zinc ion binding 0 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) TCCAGCCCGTGGCCGGCCAGC 0.647 NA 6 42 0 0 0 0 ZNF154 7710 broad.mit.edu 37 19 58213526 58213526 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr19:58213526C>T uc010euf.2 - 3 1031 c.791G>A c.(790-792)CGG>CAG p.R264Q ZNF776_uc002qpx.2_Intron|ZNF154_uc002qpy.2_RNA NM_001085384 NP_001078853 Q13106 ZN154_HUMAN zinc finger protein 154 264 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGAACTCCCCGATGTTGAAG 0.453 NA 23 90 0 0 0 0 ZNF512 84450 broad.mit.edu 37 2 27822849 27822849 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:27822849G>A uc002rla.2 + 5 473 c.386G>A c.(385-387)CGG>CAG p.R129Q ZNF512_uc010ylv.1_Missense_Mutation_p.R50Q|ZNF512_uc010ylw.1_Intron|ZNF512_uc002rlb.2_Missense_Mutation_p.R50Q|ZNF512_uc010ylx.1_Missense_Mutation_p.R50Q|ZNF512_uc002rlc.2_Missense_Mutation_p.R50Q|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Intron NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) AGGAAGCAACGGCCTAAAACT 0.473 NA 6 18 0 0 0 0 NEB 4703 broad.mit.edu 37 2 152375496 152375496 + Missense_Mutation SNP T T G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:152375496T>G uc010fnx.2 - 127 17766 c.17575A>C c.(17575-17577)AGC>CGC p.S5859R NEB_uc002txr.2_Missense_Mutation_p.S2282R|NEB_uc002txt.3_Missense_Mutation_p.S364R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5859 Nebulin 160. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCAAGTTGGCTTGTATTCAGG 0.423 NA 5 32 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168106357 168106357 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:168106357G>A uc002udx.2 + 8 8473 c.8455G>A c.(8455-8457)GAA>AAA p.E2819K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2644K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2597K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E165K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2644 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCCAGGAAGTGAAGAAAAAAA 0.393 NA 8 32 0 0 0 0 TLK1 9874 broad.mit.edu 37 2 171906348 171906348 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:171906348C>G uc002ugn.2 - 10 1428 c.956G>C c.(955-957)GGT>GCT p.G319A TLK1_uc002ugo.2_Missense_Mutation_p.G340A|TLK1_uc002ugp.2_Missense_Mutation_p.G271A|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.G223A|TLK1_uc002ugr.1_Missense_Mutation_p.G102A NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 319 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 AAATGCAAAACCATCTGTCCA 0.348 NA 12 49 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179483053 179483053 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:179483053G>T uc010zfg.1 - 201 39652 c.39428C>A c.(39427-39429)GCA>GAA p.A13143E TTN_uc010zfh.1_Missense_Mutation_p.A6838E|TTN_uc010zfi.1_Missense_Mutation_p.A6771E|TTN_uc010zfj.1_Missense_Mutation_p.A6646E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14070 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) ACAACTCTCTGCACGGTCTGT 0.463 NA 15 87 6.32e-08 7.36e-08 1 0 TTN 7273 broad.mit.edu 37 2 179549086 179549086 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr2:179549086G>A uc010zfg.1 - 129 29185 c.28961C>T c.(28960-28962)ACT>ATT p.T9654I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T6315I|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10581 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) CTCTTTTTTAGTTACAGCAAC 0.398 NA 4 36 0 0 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600540 1600540 + Missense_Mutation SNP C C A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr20:1600540C>A uc010gai.2 - 1 150 c.51G>T c.(49-51)ATG>ATT p.M17I SIRPB1_uc002wfk.3_Missense_Mutation_p.M17I|SIRPB1_uc002wfl.3_Missense_Mutation_p.M17I NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 17 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 GCAGTAGCGTCATCAGCAGGA 0.562 NA 7 62 1.13e-05 1.3e-05 1 0 SEL1L2 80343 broad.mit.edu 37 20 13856702 13856702 + Missense_Mutation SNP A A T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr20:13856702A>T uc010gcf.2 - 12 1168 c.1086T>A c.(1084-1086)TTT>TTA p.F362L SEL1L2_uc002woq.3_Missense_Mutation_p.F223L|SEL1L2_uc010zrl.1_Missense_Mutation_p.F362L|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 362 Extracellular (Potential).|Sel1-like 6. integral to membrane binding ovary(2) 2 CTGCCATGGAAAAGTACTTGA 0.393 NA 42 110 0 0 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20127696 20127696 + Missense_Mutation SNP T T A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr22:20127696T>A uc002zrq.2 + 5 722 c.616T>A c.(616-618)TTC>ATC p.F206I ZDHHC8_uc002zrr.1_Missense_Mutation_p.F206I|ZDHHC8_uc010gsa.2_Intron NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 206 Helical; (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CCTCACTGGCTTCCATGTGGT 0.637 NA 6 32 0 0 0 0 MORC2 22880 broad.mit.edu 37 22 31333632 31333632 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr22:31333632G>A uc003aje.1 - 16 2614 c.1250C>T c.(1249-1251)CCG>CTG p.P417L NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 479 ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 CTCACTGGATGGGGGCTGGTT 0.547 NA 10 58 0 0 0 0 NUP50 10762 broad.mit.edu 37 22 45574201 45574201 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr22:45574201C>T uc003bfr.2 + 5 885 c.423C>T c.(421-423)TCC>TCT p.S141S NUP50_uc003bfs.2_Silent_p.S113S|NUP50_uc011aqn.1_5'UTR|NUP50_uc003bft.2_Silent_p.S113S|NUP50_uc011aqo.1_5'UTR NM_007172 NP_009103 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa isoform b 141 5 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) AGCAGCCCTCCTCCTCTGGCC 0.483 NA 10 40 0 0 0 0 SOX2 6657 broad.mit.edu 37 3 181430873 181430873 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr3:181430873C>T uc003fkx.2 + 1 1152 c.725C>T c.(724-726)TCG>TTG p.S242L SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN sex-determining region Y-box 2 242 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) TCCATGGGTTCGGTGGTCAAG 0.652 NA A NSCLC|oesophageal squamous carcinoma MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 16 95 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr3:195505836G>C uc011bto.1 - 3 12691 c.12231C>G c.(12229-12231)CAC>CAG p.H4077Q MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597 NA 4 4 0 0 0 0 ABCG2 9429 broad.mit.edu 37 4 89052340 89052340 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr4:89052340G>T uc003hrg.2 - 5 897 c.404C>A c.(403-405)ACG>AAG p.T135K ABCG2_uc003hrh.2_Missense_Mutation_p.T135K|ABCG2_uc003hrf.2_Missense_Mutation_p.T5K NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 135 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TTCTCTCACCGTCAGAGTGCC 0.378 NA 10 88 0.00621372 0.00668596 1 0 METTL14 57721 broad.mit.edu 37 4 119621732 119621732 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr4:119621732G>C uc003icf.2 + 8 789 c.673G>C c.(673-675)GCA>CCA p.A225P METTL14_uc003icg.2_Missense_Mutation_p.A187P NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 225 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 TGATGAGATTGCAGCACCTCG 0.348 NA 8 51 0 0 0 0 SEC24D 9871 broad.mit.edu 37 4 119727067 119727067 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr4:119727067C>G uc003ici.3 - 7 1116 c.844G>C c.(844-846)GTT>CTT p.V282L SEC24D_uc003icj.3_Missense_Mutation_p.V283L|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 282 Pro-rich. 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 zinc ion binding 0 GTGGCATAAACTTGTCCTCCT 0.428 NA 19 52 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11082866 11082866 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr5:11082866G>A uc003jfa.1 - 16 2875 c.2730C>T c.(2728-2730)TGC>TGT p.C910C CTNND2_uc010itt.2_Silent_p.C819C|CTNND2_uc011cmy.1_Silent_p.C573C|CTNND2_uc011cmz.1_Silent_p.C477C|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.C502C NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 910 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGGCCACCGCGCACACCACAC 0.527 NA 20 77 0 0 0 0 CRHBP 1393 broad.mit.edu 37 5 76251503 76251503 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr5:76251503G>A uc003ker.2 + 4 639 c.359G>A c.(358-360)GGG>GAG p.G120E CRHBP_uc010izx.2_Missense_Mutation_p.G120E NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 120 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) ATTCTCAAGGGGGAGAAGTTC 0.458 NA 14 52 0 0 0 0 HMMR 3161 broad.mit.edu 37 5 162900509 162900509 + Missense_Mutation SNP T T G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr5:162900509T>G uc003lzf.2 + 9 1029 c.847T>G c.(847-849)TCT>GCT p.S283A HMMR_uc003lzh.2_Missense_Mutation_p.S284A|HMMR_uc003lzg.2_Missense_Mutation_p.S268A|HMMR_uc011dem.1_Missense_Mutation_p.S197A NM_012484 NP_036616 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor isoform b 283 cell surface|cytoplasm hyaluronic acid binding 0 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) TGTTATATTATCTAAACAAGT 0.289 NA 5 45 0 0 0 0 PRL 5617 broad.mit.edu 37 6 22290542 22290542 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:22290542G>T uc003ndp.2 - 4 872 c.353C>A c.(352-354)TCC>TAC p.S118Y PRL_uc003ndo.2_Missense_Mutation_p.S119Y|PRL_uc003ndq.2_Missense_Mutation_p.S118Y NM_000948 NP_000939 P01236 PRL_HUMAN prolactin precursor 118 S -> P (in Ref. 6; AAB70858). cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding 0 Ovarian(93;0.163) CTCATTCCAGGATCGCAATAT 0.428 NA 4 48 0.000602214 0.000666649 1 0 HIST1H3F 8968 broad.mit.edu 37 6 26250638 26250638 + Silent SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:26250638G>A uc003nhg.1 - 1 198 c.196C>T c.(196-198)CTA>TTA p.L66L HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 66 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 TGGAATGGTAGCTTGCGAATC 0.612 NA OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 117 0 0 0 0 ZNF192 7745 broad.mit.edu 37 6 28116421 28116421 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:28116421G>T uc003nkn.1 + 2 420 c.236G>T c.(235-237)TGG>TTG p.W79L ZNF192_uc010jqx.1_Missense_Mutation_p.W79L|ZNF192_uc010jqy.1_5'UTR|ZNF192_uc011dkz.1_5'UTR NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 79 SCAN box. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGCCATCAGTGGCTGAGGCCA 0.562 NA 13 65 4.38e-07 5.08e-07 1 0 MAS1L 116511 broad.mit.edu 37 6 29455526 29455526 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:29455526G>A uc011dlq.1 - 1 154 c.154C>T c.(154-156)CTT>TTT p.L52F NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 52 Extracellular (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 TCATTTTGAAGAAAGACGCCA 0.507 NA 20 56 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32020730 32020730 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:32020730C>T uc003nzl.2 - 26 9028 c.8826G>A c.(8824-8826)ACG>ACA p.T2942T NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2989 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCGGGGCCTCCGTGCTGGGTT 0.657 NA 14 100 0 0 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906579 32906579 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:32906579C>T uc003ocl.1 - 2 452 c.219G>A c.(217-219)GCG>GCA p.A73A HLA-DMB_uc003ocj.1_Silent_p.A73A|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_5'Flank|HLA-DMB_uc010jue.1_5'Flank|HLA-DMB_uc010juf.1_5'Flank|HLA-DMB_uc011dql.1_Silent_p.A73A NM_002118 NP_002109 P28068 DMB_HUMAN major histocompatibility complex, class II, DM 73 Beta-1.|Lumenal (Potential). 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 integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 AGAGGACATTCGCCAAGCTAT 0.527 NA 17 96 0 0 0 0 ENPP4 22875 broad.mit.edu 37 6 46107985 46107985 + Missense_Mutation SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:46107985A>G uc003oxy.2 + 2 924 c.665A>G c.(664-666)AAG>AGG p.K222R NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 222 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 CAAAGACTCAAGATGTTAGGG 0.408 NA 17 68 0 0 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84563844 84563844 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:84563844C>T uc003pke.2 + 3 354 c.203C>T c.(202-204)GCC>GTC p.A68V NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein 68 somite rostral/caudal axis specification nucleus 0 ATGACCGCAGCCTCAGGAAAG 0.587 NA 10 56 0 0 0 0 ARID1B 57492 broad.mit.edu 37 6 157525122 157525122 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:157525122C>G uc003qqn.2 + 19 5115 c.4963C>G c.(4963-4965)CTC>GTC p.L1655V ARID1B_uc003qqo.2_Missense_Mutation_p.L1615V|ARID1B_uc003qqp.2_Missense_Mutation_p.L1602V NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1660 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) TACTTTCAATCTCTCCCAGGT 0.428 NA 75 258 0 0 0 0 MLLT4 4301 broad.mit.edu 37 6 168281147 168281147 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:168281147G>C uc003qwd.2 + 6 986 c.844G>C c.(844-846)GAG>CAG p.E282Q MLLT4_uc003qwb.1_Missense_Mutation_p.E282Q|MLLT4_uc003qwc.1_Missense_Mutation_p.E283Q|MLLT4_uc003qwf.2_5'UTR NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 283 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TGAAGCTTTAGAGAAGTATGG 0.383 NA T MLL AL 16 157 0 0 0 0 RBAK 57786 broad.mit.edu 37 7 5103363 5103363 + Silent SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr7:5103363A>G uc010kss.1 + 6 600 c.276A>G c.(274-276)CAA>CAG p.Q92Q LOC389458_uc003snr.2_Silent_p.Q92Q|RBAK_uc003sns.1_Silent_p.Q92Q NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 92 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AGAGAATCCAAGAAAACGAAG 0.353 NA 4 20 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92762824 92762824 + Missense_Mutation SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr7:92762824C>T uc003umh.1 - 5 3677 c.2461G>A c.(2461-2463)GTT>ATT p.V821I SAMD9L_uc003umj.1_Missense_Mutation_p.V821I|SAMD9L_uc003umi.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfb.1_Missense_Mutation_p.V821I|SAMD9L_uc003umk.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfc.1_Missense_Mutation_p.V821I|SAMD9L_uc010lfd.1_Missense_Mutation_p.V821I|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 821 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTGCTAAAACGGAATGGATG 0.383 NA 20 52 0 0 0 0 LMTK2 22853 broad.mit.edu 37 7 97821898 97821898 + Silent SNP C C T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr7:97821898C>T uc003upd.1 + 11 2414 c.2121C>T c.(2119-2121)CAC>CAT p.H707H NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 707 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ATCTTATGCACCAAGATAATT 0.363 NA 14 75 0 0 0 0 LRGUK 136332 broad.mit.edu 37 7 133886291 133886291 + Missense_Mutation SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr7:133886291G>C uc003vrm.1 + 15 1822 c.1806G>C c.(1804-1806)TTG>TTC p.L602F NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 602 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 ACCTTGGATTGACTGAGGAAC 0.388 NA 7 48 0 0 0 0 ERI1 90459 broad.mit.edu 37 8 8869134 8869134 + Missense_Mutation SNP G G T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:8869134G>T uc011kwu.1 + 3 630 c.370G>T c.(370-372)GAC>TAC p.D124Y ERI1_uc003wsk.2_Missense_Mutation_p.D124Y NM_153332 NP_699163 Q8IV48 ERI1_HUMAN three prime histone mRNA exonuclease 1 124 gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding 0 Adenosine monophosphate(DB00131) CAATTTTGCTGACAGTTATTA 0.348 NA 17 30 1.03e-11 1.22e-11 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763207 77763207 + Silent SNP G G C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:77763207G>C uc003yav.2 + 10 4302 c.3915G>C c.(3913-3915)CCG>CCC p.P1305P ZFHX4_uc003yau.1_Silent_p.P1350P|ZFHX4_uc003yaw.1_Silent_p.P1305P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1305 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) AGCAGAAACCGACTAAAGAAC 0.398 NA HNSCC(33;0.089) 8 32 0 0 0 0 NBN 4683 broad.mit.edu 37 8 90949281 90949281 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:90949281T>C uc003yej.1 - 15 2317 c.2207A>G c.(2206-2208)GAA>GGA p.E736G NBN_uc003yei.1_Missense_Mutation_p.E654G|NBN_uc011lgb.1_Missense_Mutation_p.K729E NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 736 EEXXXDDL motif. EE->AA: Decreases ATM binding. cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) AAGAGACTCTTCTTTTGCATG 0.299 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 6 30 0 0 0 0 INTS8 55656 broad.mit.edu 37 8 95839504 95839504 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:95839504G>A uc003yhb.2 + 3 445 c.319G>A c.(319-321)GTA>ATA p.V107I INTS8_uc003yha.1_Missense_Mutation_p.V107I|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_5'Flank NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 107 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) GTCTGTTCCAGTATTGAATAT 0.383 NA 35 60 0 0 0 0 TG 7038 broad.mit.edu 37 8 133925427 133925427 + Missense_Mutation SNP C C A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:133925427C>A uc003ytw.2 + 20 4336 c.4295C>A c.(4294-4296)ACC>AAC p.T1432N TG_uc010mdw.2_Missense_Mutation_p.T191N NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1432 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) CACTTTGGCACCTCTCCCAGG 0.557 NA 15 57 2.23e-06 2.58e-06 1 0 TMEM2 23670 broad.mit.edu 37 9 74364981 74364981 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr9:74364981T>C uc011lsa.1 - 2 849 c.309A>G c.(307-309)ATA>ATG p.I103M TMEM2_uc010mos.2_Missense_Mutation_p.I103M|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 103 Helical; (Potential). integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) ATTTTGAGGATATTCCTAAAA 0.294 NA 6 29 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113233781 113233781 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr9:113233781T>C uc010mtz.2 - 16 3198 c.2861A>G c.(2860-2862)AAA>AGA p.K954R SVEP1_uc010mua.1_Missense_Mutation_p.K954R NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 954 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAGAGTCCTTTTCAGTTTATT 0.403 NA 3 40 0 0 0 0 MAOB 4129 broad.mit.edu 37 X 43698134 43698134 + Missense_Mutation SNP G G A TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chrX:43698134G>A uc004dfz.3 - 3 435 c.259C>T c.(259-261)CGT>TGT p.R87C MAOB_uc011mkx.1_Missense_Mutation_p.R71C|MAOB_uc011mky.1_Missense_Mutation_p.R71C|MAOB_uc010nhj.2_Missense_Mutation_p.R87C NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 87 Cytoplasmic. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TGGATCAGACGCTCAACCTCA 0.433 NA 18 82 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50052074 50052074 + Missense_Mutation SNP C C G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chrX:50052074C>G uc004dox.3 + 6 1203 c.905C>G c.(904-906)CCA>CGA p.P302R CCNB3_uc004doy.2_Missense_Mutation_p.P302R|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 302 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TTTAGGAAGCCACCAGTATTG 0.418 NA 7 73 0 0 0 0 ATG4A 115201 broad.mit.edu 37 X 107393409 107393409 + Missense_Mutation SNP A A G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chrX:107393409A>G uc004enr.2 + 10 965 c.842A>G c.(841-843)CAT>CGT p.H281R ATG4A_uc004ent.2_Missense_Mutation_p.H219R|ATG4A_uc004ens.2_Missense_Mutation_p.H197R|ATG4A_uc011msl.1_Missense_Mutation_p.H135R|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.H197R|COL4A6_uc011msm.1_Intron NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 281 By similarity. autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 TTGGACCCTCATACAACCCAG 0.493 NA 70 200 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135430046 135430046 + Missense_Mutation SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chrX:135430046T>C uc004ezu.1 + 6 4472 c.4181T>C c.(4180-4182)GTG>GCG p.V1394A GPR112_uc010nsb.1_Missense_Mutation_p.V1189A|GPR112_uc010nsc.1_Missense_Mutation_p.V1161A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1394 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CCCAGGACTGTGGAAATGATA 0.453 NA 49 175 0 0 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283638 151283638 + Nonstop_Mutation SNP T T G TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chrX:151283638T>G uc004ffj.2 - 3 580 c.375A>C c.(373-375)TAA>TAC p.*125Y NM_021049 NP_066387 P43359 MAGA5_HUMAN melanoma antigen family A, 5 125 0 Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTTGACTTAATACTTGA 0.512 NA 34 136 0 0 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319701 71319705 + Frame_Shift_Del DEL ATTAA ATTAA - TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr16:71319701_71319705delATTAA uc010cga.2 - 3 525_529 c.119_123delTTAAT c.(118-123)CTTAATfs p.L40fs FTSJD1_uc002ezy.3_Frame_Shift_Del_p.L40fs|FTSJD1_uc002ezz.3_Frame_Shift_Del_p.L40fs NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 40_41 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 GCCACTCATTATTAAGTGGCTTGCC 0.41 NA 26 38 --- --- --- --- NA NA NA NA TUBGCP6 85378 broad.mit.edu 37 22 50656424 50656444 + In_Frame_Del DEL CCCCGCGGGCCCCCAGGGGGC CCCCGCGGGCCCCCAGGGGGC - rs35381394 by1000genomes TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr22:50656424_50656444delCCCCGCGGGCCCCCAGGGGGC uc003bkb.1 - 24 5783_5803 c.5271_5291delGCCCCCTGGGGGCCCGCGGGG c.(5269-5292)GGGCCCCCTGGGGGCCCGCGGGGT>GGT p.1757_1764GPPGGPRG>G TUBGCP6_uc003bka.1_In_Frame_Del_p.827_834GPPGGPRG>G|TUBGCP6_uc010har.1_In_Frame_Del_p.1749_1756GPPGGPRG>G|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1757_1764 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) GTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCT 0.624 NA 8 71 --- --- --- --- NA NA NA NA MAK 4117 broad.mit.edu 37 6 10830857 10830857 + Frame_Shift_Del DEL G G - TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr6:10830857delG uc003mzl.2 - 1 254 c.25delC c.(25-27)CAGfs p.Q9fs SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Frame_Shift_Del_p.Q9fs|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 9 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) TCCCCCAACTGTCTCATGGTT 0.438 NA 17 86 --- --- --- --- NA NA NA NA TIGD5 84948 broad.mit.edu 37 8 144680434 144680436 + In_Frame_Del DEL GAG GAG - TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr8:144680434_144680436delGAG uc003yyx.1 + 1 214_216 c.214_216delGAG c.(214-216)GAGdel p.E74del EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 123 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 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) GCTGGCCAACGAGGAGGAGATCG 0.704 NA 10 36 --- --- --- --- NA NA NA NA GTF3C4 9329 broad.mit.edu 37 9 135554721 135554722 + Frame_Shift_Ins INS - - T TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f5abf385-0372-4faa-9558-8bf02381b68b 763bd061-65d2-4232-8ffe-2e27a7c6b4b6 g.chr9:135554721_135554722insT uc010mzv.2 + 2 1973_1974 c.1715_1716insT c.(1714-1716)TATfs p.Y572fs GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 572 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) GGAGTCACCTATTTTTGGCGTT 0.371 NA 36 160 --- --- --- --- NA NA NA NA