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 CDC42 998 broad.mit.edu 37 1 22413014 22413014 + Silent SNP A A G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:22413014A>G uc001bfq.2 + 5 553 c.261A>G c.(259-261)CCA>CCG p.P87P CDC42_uc009vqg.1_Silent_p.P87P|CDC42_uc001bfp.2_Silent_p.P87P|CDC42_uc001bfr.2_Silent_p.P87P|CDC42_uc010odr.1_Silent_p.P132P|CDC42_uc010ods.1_Silent_p.P129P|CDC42_uc009vqh.2_Silent_p.P46P NM_001039802 NP_001034891 P60953 CDC42_HUMAN cell division cycle 42 isoform 1 87 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding haematopoietic_and_lymphoid_tissue(1) 1 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TGGTCTCTCCATCTTCATTTG 0.358 NA 29 33 0 0 0 0 CSMD2 114784 broad.mit.edu 37 1 34033207 34033207 + Missense_Mutation SNP G G T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:34033207G>T uc001bxn.1 - 54 8326 c.8297C>A c.(8296-8298)ACC>AAC p.T2766N CSMD2_uc001bxm.1_Missense_Mutation_p.T2789N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2766 Sushi 18.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACAGAAAGGGGTCTTGCCCGA 0.527 NA 10 32 4.69e-08 5.29e-08 1 0 ZFYVE9 9372 broad.mit.edu 37 1 52810541 52810541 + Silent SNP C C G rs145347233 TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:52810541C>G uc001cto.2 + 18 4213 c.4041C>G c.(4039-4041)CTC>CTG p.L1347L ZFYVE9_uc001ctp.2_Silent_p.L1288L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1347 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 GCCTTGCTCTCTGTCCTCACC 0.453 NA 33 70 0 0 0 0 SGIP1 84251 broad.mit.edu 37 1 67147692 67147692 + Missense_Mutation SNP T T A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:67147692T>A uc001dcr.2 + 15 1172 c.955T>A c.(955-957)TCC>ACC p.S319T SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.S86T NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 319 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TTCTGATACATCCCCGGAACA 0.507 NA 33 74 0 0 0 0 ZNF326 284695 broad.mit.edu 37 1 90484343 90484343 + Missense_Mutation SNP G G T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:90484343G>T uc001dnq.2 + 9 1313 c.1174G>T c.(1174-1176)GGT>TGT p.G392C ZNF326_uc009wda.1_Missense_Mutation_p.G303C|ZNF326_uc001dnr.2_Missense_Mutation_p.G186C NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TGTTATGGAAGGTAAGTATTT 0.254 NA 6 24 5.94e-07 6.61e-07 1 0 USH2A 7399 broad.mit.edu 37 1 216258090 216258090 + Nonsense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:216258090C>T uc001hku.1 - 25 5504 c.5117G>A c.(5116-5118)TGG>TAG p.W1706* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1706 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACATCCCTCCCAGCTGTTATA 0.408 NA HNSCC(13;0.011) 8 57 0 0 0 0 DISP1 84976 broad.mit.edu 37 1 223178344 223178344 + Missense_Mutation SNP G G C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:223178344G>C uc001hnu.1 + 8 3752 c.3605G>C c.(3604-3606)TGC>TCC p.C1202S NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1202 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TCCCACAGCTGCACTGCCCCT 0.443 NA 8 43 0 0 0 0 CEP170 9859 broad.mit.edu 37 1 243388581 243388581 + Missense_Mutation SNP A A G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:243388581A>G uc001hzs.2 - 2 410 c.2T>C c.(1-3)ATG>ACG p.M1T CEP170_uc001hzt.2_Missense_Mutation_p.M1T|CEP170_uc001hzu.2_Missense_Mutation_p.M1T NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 1 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TGTTAAGCTCATTTTCTGCTT 0.413 NA 3 10 0 0 0 0 OR2T11 127077 broad.mit.edu 37 1 248790244 248790244 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:248790244C>T uc001ier.1 - 1 186 c.186G>A c.(184-186)CAG>CAA p.Q62Q NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGATGGACAGCTGACTGAGCA 0.483 NA 12 32 0 0 0 0 NDST2 8509 broad.mit.edu 37 10 75567374 75567374 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr10:75567374C>T uc001jvk.2 - 3 1577 c.773G>A c.(772-774)CGT>CAT p.R258H NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.R135H|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.R135H NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 258 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) CCGGGCCCGACGAAGAACTGG 0.562 NA 11 27 0 0 0 0 MYST4 23522 broad.mit.edu 37 10 76780360 76780360 + Missense_Mutation SNP G G C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr10:76780360G>C uc001jwn.1 + 14 3143 c.2650G>C c.(2650-2652)GAA>CAA p.E884Q MYST4_uc001jwm.1_Missense_Mutation_p.E592Q|MYST4_uc001jwo.1_Missense_Mutation_p.E592Q|MYST4_uc001jwp.1_Missense_Mutation_p.E701Q NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 884 Catalytic.|Interaction with BRPF1. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TTCTAGAAGAGAAGGCCAAGC 0.478 NA T CREBBP AML 15 25 0 0 0 0 TDRD1 56165 broad.mit.edu 37 10 115973760 115973760 + Missense_Mutation SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr10:115973760T>C uc001lbg.1 + 16 2252 c.2099T>C c.(2098-2100)GTA>GCA p.V700A TDRD1_uc001lbf.2_Missense_Mutation_p.V634A|TDRD1_uc001lbh.1_Missense_Mutation_p.V691A|TDRD1_uc001lbi.1_Missense_Mutation_p.V691A|TDRD1_uc010qsc.1_Missense_Mutation_p.V304A|TDRD1_uc001lbj.2_Missense_Mutation_p.V409A NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 700 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GAAGGAAAAGTAAATCCATTG 0.443 NA 12 39 0 0 0 0 OR52E4 390081 broad.mit.edu 37 11 5905534 5905534 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr11:5905534C>G uc010qzs.1 + 1 12 c.12C>G c.(10-12)ATC>ATG p.I4M TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCTTCTATCAATGACACCC 0.428 NA 19 77 0 0 0 0 OR52L1 338751 broad.mit.edu 37 11 6008146 6008146 + Silent SNP A A G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr11:6008146A>G uc001mcd.2 - 1 70 c.15T>C c.(13-15)TCT>TCC p.S5S NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAGAAAAAAGAAACCAAAG 0.423 NA 4 30 0 0 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7670885 7670885 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr11:7670885G>A uc001mfj.3 + 21 2509 c.2121G>A c.(2119-2121)GAG>GAA p.E707E PPFIBP2_uc010rbb.1_Silent_p.E630E|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Silent_p.E641E|PPFIBP2_uc010rbe.1_Silent_p.E595E|PPFIBP2_uc001mfl.3_Silent_p.E564E|PPFIBP2_uc009yfj.1_Silent_p.E351E NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 707 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding p.E707D(1) ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGCTGATGAGGTGAGACCAC 0.498 NA 20 180 0 0 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472445 66472445 + Missense_Mutation SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr11:66472445G>A uc001ojd.2 - 14 2374 c.2302C>T c.(2302-2304)CGC>TGC p.R768C NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 768 Spectrin 5. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GACACCAGGCGCAGTGCGTCA 0.682 NA 11 52 0 0 0 0 TPCN2 219931 broad.mit.edu 37 11 68846464 68846464 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr11:68846464C>T uc001oos.2 + 16 1631 c.1515C>T c.(1513-1515)GAC>GAT p.D505D TPCN2_uc001oor.2_Silent_p.D420D|TPCN2_uc010rqg.1_Silent_p.D505D|TPCN2_uc001oot.2_RNA NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 505 Helical; Name=S3 of repeat II; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACGTGTTTGACGGGCTCCTCA 0.612 NA 5 74 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2717687 2717687 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:2717687C>T uc009zdu.1 + 28 3740 c.3427C>T c.(3427-3429)CGC>TGC p.R1143C CACNA1C_uc009zdv.1_Missense_Mutation_p.R1120C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1123C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1123C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1143C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1123C|CACNA1C_uc001qka.1_Missense_Mutation_p.R658C|CACNA1C_uc001qki.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R859C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R859C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1143 Extracellular (Potential).|III.|Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCTGCTGTACCGCTCCATCGA 0.493 NA 4 16 0 0 0 0 ACRBP 84519 broad.mit.edu 37 12 6753666 6753666 + Missense_Mutation SNP T T A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:6753666T>A uc001qpu.1 - 5 629 c.581A>T c.(580-582)GAG>GTG p.E194V ACRBP_uc010sfg.1_Missense_Mutation_p.E161V NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 194 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CTGCTTGTGCTCTGGCGCTTG 0.463 NA 9 99 0 0 0 0 PZP 5858 broad.mit.edu 37 12 9334673 9334673 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:9334673G>A uc001qvl.2 - 14 1616 c.1587C>T c.(1585-1587)GAC>GAT p.D529D PZP_uc009zgl.2_Silent_p.D398D NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TGGGGGCAACGTCTGACTCCA 0.413 NA 11 37 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15636952 15636952 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:15636952C>T uc001rcv.1 + 2 294 c.120C>T c.(118-120)ATC>ATT p.I40I PTPRO_uc001rcw.1_Silent_p.I40I|PTPRO_uc001rcu.1_Silent_p.I40I NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 40 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) ATAATAACATCGTTGTCTCAT 0.348 NA 22 73 0 0 0 0 SLC16A7 9194 broad.mit.edu 37 12 60169147 60169147 + Silent SNP T T G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:60169147T>G uc001sqs.2 + 5 1370 c.1071T>G c.(1069-1071)GTT>GTG p.V357V SLC16A7_uc001sqt.2_Silent_p.V357V|SLC16A7_uc001squ.2_Silent_p.V357V|SLC16A7_uc009zqi.2_Silent_p.V258V|SLC16A7_uc010ssi.1_Silent_p.V258V NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 357 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TTAGCAGTGTTCTCTTTGAAA 0.498 NA 18 70 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124335520 124335520 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr12:124335520C>T uc001uft.3 + 34 5859 c.5834C>T c.(5833-5835)CCC>CTC p.P1945L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1945 AAA 1 (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) ACGGAGCTGCCCGAGTCGGTG 0.612 NA 24 35 0 0 0 0 FLT3 2322 broad.mit.edu 37 13 28589748 28589748 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr13:28589748G>A uc001urw.2 - 21 2714 c.2632C>T c.(2632-2634)CTG>TTG p.L878L FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.L837L NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 878 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATTTCCCACAGTAATATTCCA 0.542 NA Mis|O AML|ALL 21 29 0 0 0 0 SPERT 220082 broad.mit.edu 37 13 46287473 46287473 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr13:46287473C>T uc001van.1 + 3 393 c.313C>T c.(313-315)CGC>TGC p.R105C SPERT_uc001vao.2_Missense_Mutation_p.R69C NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 105 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CCCCATGGAGCGCCCCATGTC 0.667 NA 26 48 0 0 0 0 PCDH8 5100 broad.mit.edu 37 13 53421570 53421570 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr13:53421570G>A uc001vhi.2 - 1 1205 c.1002C>T c.(1000-1002)CGC>CGT p.R334R PCDH8_uc001vhj.2_Silent_p.R334R NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 334 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) AGGTGGCAGCGCGGGGCCCGG 0.721 NA 8 9 0 0 0 0 FNTB 2342 broad.mit.edu 37 14 65453708 65453708 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr14:65453708C>T uc001xia.2 + 1 202 c.37C>T c.(37-39)CCA>TCA p.P13S FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|uc001xib.2_5'Flank NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 13 protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CTATTGCCCTCCATCTTCCTC 0.562 NA OREG0022738 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 34 0 0 0 0 NDN 4692 broad.mit.edu 37 15 23931748 23931748 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr15:23931748C>G uc001ywk.2 - 1 703 c.617G>C c.(616-618)AGA>ACA p.R206T NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 206 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGCGCTCTCTCTGGCGCCGCG 0.652 NA Prader-Willi_syndrome 4 39 0 0 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776457 31776457 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr15:31776457C>T uc001zfq.2 - 11 1914 c.1821G>A c.(1819-1821)CCG>CCA p.P607P OTUD7A_uc001zfr.2_Silent_p.P614P NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 607 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CGTCGCCCCGCGGCCCACCGC 0.697 NA 4 13 0 0 0 0 SPG11 80208 broad.mit.edu 37 15 44944131 44944131 + Missense_Mutation SNP C C A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr15:44944131C>A uc001ztx.2 - 6 1045 c.1014G>T c.(1012-1014)TGG>TGT p.W338C SPG11_uc010ueh.1_Missense_Mutation_p.W338C|SPG11_uc010uei.1_Missense_Mutation_p.W338C|SPG11_uc001zua.1_Missense_Mutation_p.W338C NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 338 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GCTGGGCTTTCCAAGACCTGG 0.373 NA 4 24 0.00024832 0.00026567 1 0 CREBBP 1387 broad.mit.edu 37 16 3801777 3801777 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:3801777C>G uc002cvv.2 - 20 3933 c.3729G>C c.(3727-3729)GAG>GAC p.E1243D CREBBP_uc002cvw.2_Missense_Mutation_p.E1205D NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1243 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CGCCCTGGATCTCTGTGAAAC 0.522 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 7 24 0 0 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730126 53730126 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:53730126C>T uc002ehp.2 - 3 231 c.167G>A c.(166-168)CGT>CAT p.R56H RPGRIP1L_uc002eho.3_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R56H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R56H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R56H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R56H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 56 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) ATCATGCAAACGCAAAAATCT 0.398 NA 61 78 0 0 0 0 GNAO1 2775 broad.mit.edu 37 16 56309938 56309938 + Missense_Mutation SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:56309938G>A uc002eit.3 + 3 1154 c.257G>A c.(256-258)CGG>CAG p.R86Q GNAO1_uc002eiu.3_Missense_Mutation_p.R86Q NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 86 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) GCCATCGTCCGGGCCATGGAC 0.517 NA 15 35 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57953017 57953017 + Missense_Mutation SNP A A G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:57953017A>G uc002emt.2 - 20 2008 c.1943T>C c.(1942-1944)ATT>ACT p.I648T CNGB1_uc010cdh.2_Missense_Mutation_p.I642T NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 648 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CAGCGGGTCAATGCTCTGGGG 0.577 NA 17 34 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66969411 66969411 + Missense_Mutation SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:66969411T>C uc002eqr.2 + 1 1065 c.65T>C c.(64-66)CTG>CCG p.L22P CES2_uc002eqq.2_Missense_Mutation_p.L22P|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 Error:Variant_position_missing_in_O00748_after_alignment catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CGCACCCCGCTGACTCCCTGC 0.667 NA 61 71 0 0 0 0 FHOD1 29109 broad.mit.edu 37 16 67267888 67267888 + Nonsense_Mutation SNP G G T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr16:67267888G>T uc002esl.2 - 13 1830 c.1718C>A c.(1717-1719)TCA>TAA p.S573* FHOD1_uc010ced.2_Nonsense_Mutation_p.S380*|FHOD1_uc010vjh.1_Nonsense_Mutation_p.S233* NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 573 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CAGTGGGGGTGAGGGAGCTGG 0.602 NA 7 53 0.000157383 0.000169118 1 0 CD68 968 broad.mit.edu 37 17 7483866 7483866 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr17:7483866C>T uc002ghv.2 + 3 841 c.650C>T c.(649-651)TCA>TTA p.S217L CD68_uc002ghu.2_Missense_Mutation_p.S190L NM_001251 NP_001242 P34810 CD68_HUMAN CD68 antigen isoform A 217 Extracellular (Potential). endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane 0 CTGCTTCTCTCATTCCCCTAT 0.577 NA 9 80 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577575 7577575 + Missense_Mutation SNP A A C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr17:7577575A>C uc002gim.2 - 7 900 c.706T>G c.(706-708)TAC>GAC p.Y236D TP53_uc002gig.1_Missense_Mutation_p.Y236D|TP53_uc002gih.2_Missense_Mutation_p.Y236D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104D|TP53_uc010cng.1_Missense_Mutation_p.Y104D|TP53_uc002gii.1_Missense_Mutation_p.Y104D|TP53_uc010cnh.1_Missense_Mutation_p.Y236D|TP53_uc010cni.1_Missense_Mutation_p.Y236D|TP53_uc002gij.2_Missense_Mutation_p.Y236D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143D|TP53_uc002gio.2_Missense_Mutation_p.Y104D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 236 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (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.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236fs*4(2)|p.Y236Y(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) TTACACATGTAGTTGTAGTGG 0.577 111 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) 23 15 0 0 0 0 CUEDC1 404093 broad.mit.edu 37 17 55957093 55957093 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr17:55957093C>G uc002ivd.1 - 3 1062 c.343G>C c.(343-345)GAA>CAA p.E115Q CUEDC1_uc002ive.1_Missense_Mutation_p.E115Q NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 115 Pro-rich. skin(2) 2 AAAGTCCTTTCCAAGATCTAA 0.343 NA 3 59 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18629142 18629142 + Missense_Mutation SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr18:18629142T>C uc002kte.2 - 4 1266 c.325A>G c.(325-327)AAA>GAA p.K109E NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 109 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) ATTTCAAATTTGCTGAGAAGC 0.363 NA 12 75 0 0 0 0 UBXN6 80700 broad.mit.edu 37 19 4446549 4446549 + Missense_Mutation SNP C C A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:4446549C>A uc002man.1 - 8 964 c.868G>T c.(868-870)GGG>TGG p.G290W UBXN6_uc010dty.1_Missense_Mutation_p.G194W|UBXN6_uc002mam.1_Missense_Mutation_p.G237W NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 290 microtubule organizing center|nucleus protein binding 0 AAGAAGTCCCCAGGCAGTTCG 0.682 NA 6 25 2.01e-06 2.23e-06 1 0 LONP1 9361 broad.mit.edu 37 19 5700888 5700888 + Missense_Mutation SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:5700888T>C uc002mcx.2 - 9 1451 c.1418A>G c.(1417-1419)TAC>TGC p.Y473C LONP1_uc002mcy.2_Missense_Mutation_p.Y409C|LONP1_uc010duh.2_Missense_Mutation_p.Y214C|LONP1_uc010dui.2_Missense_Mutation_p.Y457C|LONP1_uc002mcz.2_Missense_Mutation_p.Y277C NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 473 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 CTCGTTGCTGTACTTGCCCCA 0.607 NA 24 73 0 0 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45719340 45719340 + Missense_Mutation SNP G G T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:45719340G>T uc002pay.1 - 9 973 c.932C>A c.(931-933)CCA>CAA p.P311Q NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 311 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CCTGATGTCTGGGTAGTCGCG 0.657 NA 15 35 6.32e-08 7.1e-08 1 0 CCDC8 83987 broad.mit.edu 37 19 46915759 46915759 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:46915759G>A uc002pep.2 - 1 1161 c.309C>T c.(307-309)AGC>AGT p.S103S NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 103 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) ACTCGCTGTCGCTGGCGTTGC 0.652 NA 17 122 0 0 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998417 46998417 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:46998417G>A uc002pes.2 - 1 753 c.306C>T c.(304-306)GTC>GTT p.V102V uc002peu.1_Silent_p.R176R NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 102 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TCTGCCTCAGGACCCTCGTGT 0.478 NA 27 169 0 0 0 0 ZNF134 7693 broad.mit.edu 37 19 58131571 58131571 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr19:58131571G>A uc002qpn.2 + 3 183 c.84G>A c.(82-84)CAG>CAA p.Q28Q ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank NM_003435 NP_003426 P52741 ZN134_HUMAN zinc finger protein 134 28 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CTTCTGAACAGAGCATTTCTA 0.453 NA 34 49 0 0 0 0 DTNB 1838 broad.mit.edu 37 2 25803661 25803661 + Missense_Mutation SNP A A C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr2:25803661A>C uc002rgh.2 - 7 888 c.638T>G c.(637-639)ATG>AGG p.M213R DTNB_uc010yko.1_Missense_Mutation_p.M156R|DTNB_uc010ykp.1_Missense_Mutation_p.M9R|DTNB_uc002rgo.2_Missense_Mutation_p.M34R|DTNB_uc002rgi.2_Missense_Mutation_p.M213R|DTNB_uc002rgj.2_Missense_Mutation_p.M213R|DTNB_uc002rgk.2_Missense_Mutation_p.M213R|DTNB_uc002rgl.2_Missense_Mutation_p.M213R|DTNB_uc002rgq.2_Missense_Mutation_p.M213R|DTNB_uc002rgm.2_Missense_Mutation_p.M213R|DTNB_uc002rgn.2_Missense_Mutation_p.M9R|DTNB_uc002rgr.1_Missense_Mutation_p.M202R|DTNB_uc010ykq.1_Missense_Mutation_p.M66R NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 213 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCAGCCATCATTGTGTCTAA 0.383 NA 5 53 0 0 0 0 ACOXL 55289 broad.mit.edu 37 2 111666433 111666433 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr2:111666433C>T uc002tgr.3 + 11 1080 c.856C>T c.(856-858)CGG>TGG p.R286W ACOXL_uc010fkc.2_Missense_Mutation_p.R286W|ACOXL_uc010yxk.1_Missense_Mutation_p.R286W NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 286 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ACAGACCCTGCGGCTGATGCC 0.547 NA 9 49 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210559034 210559034 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr2:210559034C>G uc002vde.1 + 7 2388 c.2140C>G c.(2140-2142)CTT>GTT p.L714V MAP2_uc002vdc.1_Missense_Mutation_p.L714V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.L710V NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 714 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTCCATAGCCCTTGGATTTAA 0.443 NA 46 75 0 0 0 0 RBCK1 10616 broad.mit.edu 37 20 398533 398533 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr20:398533C>G uc002wdp.3 + 4 1112 c.419C>G c.(418-420)CCT>CGT p.P140R RBCK1_uc010zpl.1_Missense_Mutation_p.P140R|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.P98R|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L24V NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 140 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) TCCCTCAACCCTCAGGAGCTG 0.672 NA 8 24 0 0 0 0 BPI 671 broad.mit.edu 37 20 36932638 36932638 + Missense_Mutation SNP C C A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr20:36932638C>A uc002xib.2 + 1 87 c.25C>A c.(25-27)CCT>ACT p.P9T NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 9 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GGCCAGGGGCCCTTGCAACGC 0.607 NA 33 73 1.22e-17 1.41e-17 1 0 ZNF831 128611 broad.mit.edu 37 20 57769698 57769698 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr20:57769698G>A uc002yan.2 + 1 3624 c.3624G>A c.(3622-3624)GCG>GCA p.A1208A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1208 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TGTACTTGGCGGTGCACTTTC 0.642 NA 10 18 0 0 0 0 C22orf28 51493 broad.mit.edu 37 22 32784017 32784017 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr22:32784017C>T uc003amm.2 - 12 1611 c.1480G>A c.(1480-1482)GCC>ACC p.A494T NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 494 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 AGTTTAATGGCTTTCTTGCTG 0.463 NA 4 23 0 0 0 0 TCF20 6942 broad.mit.edu 37 22 42605941 42605941 + Missense_Mutation SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr22:42605941G>A uc003bcj.1 - 1 5505 c.5371C>T c.(5371-5373)CGC>TGC p.R1791C TCF20_uc003bck.1_Missense_Mutation_p.R1791C|TCF20_uc003bnt.2_Missense_Mutation_p.R1791C NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1791 Nuclear localization signal (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 TCTTCCGAGCGGTGGCGCCGC 0.597 NA 16 46 0 0 0 0 CCBP2 1238 broad.mit.edu 37 3 42906038 42906038 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:42906038C>T uc003cme.2 + 3 223 c.44C>T c.(43-45)GCC>GTC p.A15V CCBP2_uc003cmd.1_Missense_Mutation_p.A15V|CCBP2_uc003cmf.2_Missense_Mutation_p.A15V|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 15 Extracellular (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) ACTGAGGATGCCGATTCTGAG 0.542 NA 3 27 0 0 0 0 RBM5 10181 broad.mit.edu 37 3 50144992 50144992 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:50144992C>T uc003cyg.2 + 12 1179 c.1031C>T c.(1030-1032)TCA>TTA p.S344L RBM5_uc011bdj.1_Missense_Mutation_p.S288L|RBM5_uc011bdk.1_Missense_Mutation_p.S172L NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 344 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTCAGTGGTCATCCACCCAG 0.512 NA 14 18 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492402 107492402 + Missense_Mutation SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:107492402G>A uc010hpr.2 + 11 2161 c.1834G>A c.(1834-1836)GAG>AAG p.E612K BBX_uc003dwk.3_Missense_Mutation_p.E612K|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E633K|BBX_uc003dwm.3_Missense_Mutation_p.E612K|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) CAGGAAATCCGAGAGGTCTTG 0.483 NA 13 50 0 0 0 0 LRRC58 116064 broad.mit.edu 37 3 120053938 120053938 + Nonsense_Mutation SNP A A C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:120053938A>C uc003edr.2 - 3 774 c.678T>G c.(676-678)TAT>TAG p.Y226* NM_001099678 NP_001093148 Q96CX6 LRC58_HUMAN leucine rich repeat containing 58 226 LRR 8. 0 GBM - Glioblastoma multiforme(114;0.147) CTCGAGGCAGATATGTCAGCA 0.363 NA 7 37 0 0 0 0 GTF2E1 2960 broad.mit.edu 37 3 120495328 120495328 + Nonsense_Mutation SNP G G T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:120495328G>T uc003edz.3 + 4 823 c.709G>T c.(709-711)GAA>TAA p.E237* NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 237 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GCACCACCGGGAAGCATGGGC 0.458 NA 25 66 2.01e-23 2.32e-23 1 0 DNAJB8 165721 broad.mit.edu 37 3 128181534 128181534 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:128181534G>A uc003ekk.1 - 3 2216 c.555C>T c.(553-555)TCC>TCT p.S185S uc003ekl.1_5'Flank NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN DnaJ homolog, subfamily B, member 8 185 protein folding heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(114;0.177) TCATCTCGGTGGACGACATCA 0.627 NA 15 39 0 0 0 0 BFSP2 8419 broad.mit.edu 37 3 133119364 133119364 + Missense_Mutation SNP G G T rs148759360 TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:133119364G>T uc003epn.1 + 1 575 c.437G>T c.(436-438)CGC>CTC p.R146L NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 146 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 AAAGCCACACGCTCGGGAAAC 0.617 NA 6 18 5.94e-07 6.61e-07 1 0 SGEF 26084 broad.mit.edu 37 3 153905593 153905593 + Missense_Mutation SNP A A T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr3:153905593A>T uc011bog.1 + 7 1818 c.1607A>T c.(1606-1608)GAA>GTA p.E536V SGEF_uc011boh.1_Missense_Mutation_p.E536V NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 536 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGCACAAATGAAGTCTACCAA 0.343 NA 4 18 0 0 0 0 RGS12 6002 broad.mit.edu 37 4 3424168 3424168 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr4:3424168C>T uc003ggw.2 + 11 3808 c.2904C>T c.(2902-2904)CTC>CTT p.L968L RGS12_uc003ggv.2_Silent_p.L968L|RGS12_uc003ggy.1_Silent_p.L366L|RGS12_uc003ggz.2_Silent_p.L320L|RGS12_uc010icu.1_Silent_p.L167L|RGS12_uc011bvs.1_Silent_p.L310L|RGS12_uc003gha.2_Silent_p.L310L|RGS12_uc010icv.2_Silent_p.L167L|RGS12_uc003ghb.2_Silent_p.L167L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 968 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCATTCATCTCCCGGATGGGA 0.627 NA 10 17 0 0 0 0 DRD5 1816 broad.mit.edu 37 4 9785061 9785061 + Missense_Mutation SNP C C G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr4:9785061C>G uc003gmb.3 + 1 1804 c.1408C>G c.(1408-1410)CCT>GCT p.P470A NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 470 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CAAAATAACACCTTTCACCCC 0.483 NA 7 37 0 0 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460413 70460413 + Silent SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr4:70460413T>C uc003hem.3 - 5 1149 c.1086A>G c.(1084-1086)GGA>GGG p.G362G UGT2A1_uc011caq.1_Silent_p.G528G|UGT2A1_uc010ihu.2_Silent_p.G362G|UGT2A1_uc010iht.2_Silent_p.G318G|UGT2A1_uc010ihs.2_Silent_p.G363G NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 362 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 TTTTGGGATGTCCTAATTTGA 0.418 NA 2 8 0 0 0 0 CMBL 134147 broad.mit.edu 37 5 10280584 10280584 + Nonsense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr5:10280584C>T uc003jes.2 - 6 1170 c.719G>A c.(718-720)TGG>TAG p.W240* NM_138809 NP_620164 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase 240 cytosol hydrolase activity|protein binding skin(1) 1 CTTGTTCAGCCACTCAATTAA 0.418 NA 7 87 0 0 0 0 TRIM36 55521 broad.mit.edu 37 5 114462268 114462268 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr5:114462268C>T uc003kqs.2 - 10 2628 c.2119G>A c.(2119-2121)GGC>AGC p.G707S TRIM36_uc011cwc.1_Missense_Mutation_p.G695S|TRIM36_uc003kqt.2_Missense_Mutation_p.G552S NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 707 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) CCTCCACTGCCCATTAATGCA 0.393 NA 7 14 0 0 0 0 TIMD4 91937 broad.mit.edu 37 5 156381757 156381757 + Silent SNP A A C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr5:156381757A>C uc003lwh.2 - 2 126 c.69T>G c.(67-69)ACT>ACG p.T23T TIMD4_uc010jii.2_Silent_p.T23T NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 23 integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTCTCTGAAGTGACTGGTG 0.473 NA 4 8 0 0 0 0 HIST1H2BN 8341 broad.mit.edu 37 6 27806706 27806706 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:27806706C>T uc003njv.2 + 1 267 c.267C>T c.(265-267)ACC>ACT p.T89T HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.T89T NM_003520 NP_003511 Q99877 H2B1N_HUMAN histone cluster 1, H2bn 89 nucleosome assembly nucleosome|nucleus DNA binding 0 AGCGCTCGACCATCACCTCCA 0.637 NA 20 94 0 0 0 0 CLIC5 53405 broad.mit.edu 37 6 45882035 45882035 + Missense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:45882035C>T uc003oxv.3 - 5 1101 c.995G>A c.(994-996)CGC>CAC p.R332H CLIC5_uc003oxu.3_Missense_Mutation_p.R173H|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R173H NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 332 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 CAGGAACTTGCGCCGGGACCC 0.557 NA 13 48 0 0 0 0 FBXL4 26235 broad.mit.edu 37 6 99353453 99353453 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:99353453G>A uc003ppf.1 - 5 1310 c.952C>T c.(952-954)CTG>TTG p.L318L FBXL4_uc003ppg.1_Silent_p.L318L|FBXL4_uc003pph.1_5'UTR|FBXL4_uc010kcp.2_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 318 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) ATGTATTGCAGAGGATCACAG 0.433 NA 12 42 0 0 0 0 EPB41L2 2037 broad.mit.edu 37 6 131222184 131222184 + Missense_Mutation SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:131222184T>C uc003qch.2 - 7 1248 c.1066A>G c.(1066-1068)ATC>GTC p.I356V EPB41L2_uc003qcg.1_Missense_Mutation_p.I356V|EPB41L2_uc011eby.1_Missense_Mutation_p.I356V|EPB41L2_uc003qci.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfk.2_Missense_Mutation_p.I356V|EPB41L2_uc010kfl.1_Missense_Mutation_p.I356V NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 356 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTGAGGTCGATGCTGCCATGT 0.542 NA 19 94 0 0 0 0 PEX3 8504 broad.mit.edu 37 6 143793311 143793311 + Missense_Mutation SNP A A G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:143793311A>G uc003qjl.2 + 8 855 c.593A>G c.(592-594)CAT>CGT p.H198R PEX3_uc011edx.1_Missense_Mutation_p.H198R NM_003630 NP_003621 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 198 Cytoplasmic (Potential). protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) TCTCTTAAACATTCTTTGTCC 0.333 NA 19 20 0 0 0 0 RADIL 55698 broad.mit.edu 37 7 4874238 4874238 + Nonsense_Mutation SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr7:4874238C>T uc003snj.1 - 4 1589 c.1416G>A c.(1414-1416)TGG>TGA p.W472* RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Nonsense_Mutation_p.W232*|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 472 cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCACACTGACCCAGACAGTCT 0.682 NA 3 10 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21934574 21934574 + Missense_Mutation SNP T T G TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr7:21934574T>G uc003svc.2 + 80 13058 c.13027T>G c.(13027-13029)TGG>GGG p.W4343G NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4343 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACCAGACACTTGGAGCAAACT 0.522 NA Kartagener_syndrome 6 41 0 0 0 0 GPNMB 10457 broad.mit.edu 37 7 23306162 23306162 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr7:23306162C>T uc003swc.2 + 7 1242 c.1081C>T c.(1081-1083)CTG>TTG p.L361L GPNMB_uc003swb.2_Silent_p.L349L|GPNMB_uc011jyy.1_Silent_p.L303L|GPNMB_uc011jyz.1_Silent_p.L250L NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 361 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CCCCCTGGAGCTGAGTAGGAT 0.413 NA 9 43 0 0 0 0 FKBP6 8468 broad.mit.edu 37 7 72754700 72754700 + Missense_Mutation SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr7:72754700G>A uc003tya.2 + 6 781 c.649G>A c.(649-651)GCC>ACC p.A217T FKBP6_uc003twz.2_Missense_Mutation_p.A187T|FKBP6_uc011kew.1_Missense_Mutation_p.A212T|FKBP6_uc010lbe.1_RNA NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 217 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) GGTGGAGGCCGCCAAGCTTCC 0.567 NA 13 42 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885018 88885018 + Silent SNP G G A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr8:88885018G>A uc003ydz.2 - 1 1279 c.1182C>T c.(1180-1182)TAC>TAT p.Y394Y NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 394 ovary(1) 1 AGAATTAACCGTAGGAGAAAC 0.502 NA 19 22 0 0 0 0 LRRC19 64922 broad.mit.edu 37 9 26997861 26997861 + Missense_Mutation SNP C C A TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:26997861C>A uc003zqh.2 - 3 571 c.460G>T c.(460-462)GGC>TGC p.G154C IFT74_uc010mja.2_Intron|IFT74_uc010mjb.2_Intron|IFT74_uc003zqf.3_Intron|IFT74_uc003zqg.3_Intron NM_022901 NP_075052 Q9H756 LRC19_HUMAN leucine rich repeat containing 19 precursor 154 LRR 5.|Extracellular (Potential). integral to membrane 0 all_neural(11;1.81e-09) Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001) ATCAAATTGCCTTGCAGATTC 0.323 NA 16 36 4.15e-12 4.75e-12 1 0 TRPM3 80036 broad.mit.edu 37 9 73152300 73152300 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:73152300C>T uc004aid.2 - 25 3937 c.3693G>A c.(3691-3693)CGG>CGA p.R1231R TRPM3_uc004ahu.2_Silent_p.R1073R|TRPM3_uc004ahv.2_Silent_p.R1033R|TRPM3_uc004ahw.2_Silent_p.R1103R|TRPM3_uc004ahx.2_Silent_p.R1090R|TRPM3_uc004ahy.2_Silent_p.R1093R|TRPM3_uc004ahz.2_Silent_p.R1080R|TRPM3_uc004aia.2_Silent_p.R1078R|TRPM3_uc004aib.2_Silent_p.R1068R|TRPM3_uc004aic.2_Silent_p.R1231R NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1256 Cytoplasmic (Potential).|Potential. integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CTTCCTCCAGCCGCATAGACA 0.572 NA 4 32 0 0 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112705030 112705030 + Silent SNP T T C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:112705030T>C uc004bei.2 + 7 753 c.561T>C c.(559-561)TCT>TCC p.S187S PALM2_uc004bef.2_Silent_p.S189S|PALM2_uc004beg.2_Silent_p.S155S|PALM2_uc004beh.3_Silent_p.S187S|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:Variant_position_missing_in_Q9Y2D5_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AGATTCTCTCTACATCTACCA 0.453 NA 6 21 0 0 0 0 ASTN2 23245 broad.mit.edu 37 9 119976807 119976807 + Missense_Mutation SNP A A T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:119976807A>T uc004bjs.1 - 3 946 c.845T>A c.(844-846)GTG>GAG p.V282E ASTN2_uc004bjr.1_Missense_Mutation_p.V282E|ASTN2_uc004bjt.1_Missense_Mutation_p.V282E NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 282 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCGGATGGGCACGCCAATGAC 0.602 NA 7 36 0 0 0 0 DOLPP1 57171 broad.mit.edu 37 9 131843487 131843487 + Splice_Site SNP G G C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:131843487G>C uc004bxc.2 + 1 104 c.76_splice c.e1+1 p.G26_splice DOLPP1_uc004bxd.2_Splice_Site_p.G26_splice|DOLPP1_uc004bxe.2_Splice_Site NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN dolichyl pyrophosphate phosphatase 1 isoform a dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity skin(1) 1 TATCCTGCAGGTAAAAGGCGG 0.706 NA 8 44 0 0 0 0 FAM46D 169966 broad.mit.edu 37 X 79698533 79698533 + Silent SNP C C T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chrX:79698533C>T uc004edl.1 + 5 829 c.495C>T c.(493-495)CTC>CTT p.L165L FAM46D_uc004edm.1_Silent_p.L165L NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 165 lung(2) 2 TGAGTTCACTCAGACGGCAGT 0.368 NA 15 29 0 0 0 0 TMEM206 55248 broad.mit.edu 37 1 212583778 212583778 + Frame_Shift_Del DEL C C - TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr1:212583778delC uc001hjc.3 - 2 290 c.122delG c.(121-123)GGTfs p.G41fs TMEM206_uc010pte.1_Frame_Shift_Del_p.G102fs NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 41 Cytoplasmic (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TGGTAAGATACCCGGACCTTG 0.582 NA 34 218 --- --- --- --- NA NA NA NA ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G rs35708848 TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr10:31809832_31809833insG uc001ivs.3 + 7 1632_1633 c.1569_1570insG c.(1567-1572)GAAGGGfs p.E523fs ZEB1_uc001ivr.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qee.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc010qef.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc009xlj.1_Frame_Shift_Ins_p.E449fs|ZEB1_uc010qeg.1_Frame_Shift_Ins_p.E382fs|ZEB1_uc009xlk.1_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivt.3_Frame_Shift_Ins_p.E305fs|ZEB1_uc001ivu.3_Frame_Shift_Ins_p.E524fs|ZEB1_uc001ivv.3_Frame_Shift_Ins_p.E503fs|ZEB1_uc010qeh.1_Frame_Shift_Ins_p.E456fs|ZEB1_uc009xlo.1_Frame_Shift_Ins_p.E506fs|ZEB1_uc009xlp.2_Frame_Shift_Ins_p.E507fs NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 523_524 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 NA 12 40 --- --- --- --- NA NA NA NA AGPS 8540 broad.mit.edu 37 2 178326624 178326624 + Frame_Shift_Del DEL A A - TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr2:178326624delA uc002ull.2 + 9 921 c.874delA c.(874-876)AAAfs p.K292fs AGPS_uc010zfb.1_Frame_Shift_Del_p.K202fs NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 292 FAD-binding PCMH-type. ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TTTTCAGCTTAAAGAAAGTGG 0.383 NA 30 32 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187531028 187531029 + Frame_Shift_Ins INS - - T TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr4:187531028_187531029insT uc003izf.2 - 15 10182_10183 c.9994_9995insA c.(9994-9996)ACCfs p.T3332fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3332 Extracellular (Potential).|Cadherin 30. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAACACAGGGGTATTATCGTTG 0.465 NA HNSCC(5;0.00058) 9 17 --- --- --- --- NA NA NA NA HCN1 348980 broad.mit.edu 37 5 45262631 45262631 + Frame_Shift_Del DEL G G - TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr5:45262631delG uc003jok.2 - 8 2090 c.2065delC c.(2065-2067)CAGfs p.Q689fs NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 689 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCTGATGGCTGGGGGGTCTGT 0.637 NA 7 59 --- --- --- --- NA NA NA NA ESR1 2099 broad.mit.edu 37 6 152129337 152129338 + Frame_Shift_Ins INS - - C TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr6:152129337_152129338insC uc003qom.3 + 3 660_661 c.290_291insC c.(289-291)TTCfs p.F97fs ESR1_uc010kin.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kio.2_Frame_Shift_Ins_p.F97fs|ESR1_uc010kip.2_Frame_Shift_Ins_p.F97fs|ESR1_uc003qon.3_Frame_Shift_Ins_p.F97fs|ESR1_uc003qoo.3_Frame_Shift_Ins_p.F97fs|ESR1_uc010kiq.2_5'UTR|ESR1_uc010kir.2_Frame_Shift_Ins_p.F97fs NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 97 Modulating; mediates interaction with MACROD1. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CTGGGGGGTTTCCCCCCACTCA 0.723 NA 2 4 --- --- --- --- NA NA NA NA TTF1 7270 broad.mit.edu 37 9 135271848 135271850 + In_Frame_Del DEL TCT TCT - TCGA-DQ-7592-01A-11D-2078-08 TCGA-DQ-7592-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d8e20b3b-2666-4b53-aa85-a5056028df98 e942ac91-d4a1-4025-9126-78eb33c94626 g.chr9:135271848_135271850delTCT uc004cbl.2 - 5 1878_1880 c.1826_1828delAGA c.(1825-1830)AAGATG>ATG p.K609del TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_In_Frame_Del_p.K94del NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 609 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ACATCGAACATCTTCTTTGCTCG 0.389 NA 10 43 --- --- --- --- NA NA NA NA