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 C1orf135 79000 broad.mit.edu 37 1 26161639 26161639 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:26161639G>C uc001bkw.1 - 3 919 c.919C>G c.(919-921)CAA>GAA p.Q307E NM_024037 NP_076942 Q9H7T9 CA135_HUMAN aurora A-binding protein 307 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) GTTACATCTTGAAAAGGAGCT 0.483 NA 134 144 0 0 0 0 TMEM54 113452 broad.mit.edu 37 1 33360939 33360939 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:33360939C>G uc001bwi.1 - 5 675 c.561G>C c.(559-561)CTG>CTC p.L187L TMEM54_uc001bwj.1_Silent_p.L134L|TMEM54_uc001bwk.1_Silent_p.L167L NM_033504 NP_277039 Q969K7 TMM54_HUMAN transmembrane protein 54 187 integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCAGGGCCTCAGCTCCAGCA 0.642 NA 12 9 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047150 42047150 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:42047150C>T uc001cgz.3 - 4 4532 c.3319G>A c.(3319-3321)GAC>AAC p.D1107N HIVEP3_uc001cha.3_Missense_Mutation_p.D1107N|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1107 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGGGCCTGTCCTGCCCTGGG 0.622 NA 48 38 0 0 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704848 52704848 + Missense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:52704848C>A uc001cto.2 + 4 1931 c.1759C>A c.(1759-1761)CTT>ATT p.L587I ZFYVE9_uc001ctn.2_Missense_Mutation_p.L587I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L587I NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 587 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 ACCTTCTAATCTTAAACTTCA 0.388 NA 35 27 1.22e-17 1.35e-17 1 0 NBPF10 100132406 broad.mit.edu 37 1 145301751 145301751 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:145301751T>A uc001end.3 + 7 1055 c.1020T>A c.(1018-1020)TTT>TTA p.F340L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.F340L|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Missense_Mutation_p.F69L NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 340 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TCATAAAATTTATGCTGAGGA 0.527 NA 71 462 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 NA 3 84 0 0 0 0 LASS2 29956 broad.mit.edu 37 1 150940939 150940939 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:150940939G>A uc001evy.2 - 3 610 c.223C>T c.(223-225)CGG>TGG p.R75W LASS2_uc001evz.2_Missense_Mutation_p.R75W|LASS2_uc009wmh.2_5'UTR NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 75 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCCCGCAGCCGAGTTTTCTCC 0.562 NA 16 62 0 0 0 0 LINGO4 339398 broad.mit.edu 37 1 151774265 151774265 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:151774265G>A uc001ezf.1 - 2 1106 c.916C>T c.(916-918)CGC>TGC p.R306C NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 306 Extracellular (Potential).|LRR 10. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CCTGACAGGCGTAGCTCCTGG 0.612 NA 10 55 0 0 0 0 RPTN 126638 broad.mit.edu 37 1 152128885 152128885 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:152128885C>T uc001ezs.1 - 3 755 c.690G>A c.(688-690)CGG>CGA p.R230R NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 230 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GTTTTTCACACCGATTTAAGG 0.418 NA 81 173 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152187530 152187530 + Nonsense_Mutation SNP G G T rs77317029 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:152187530G>T uc001ezt.1 - 3 6651 c.6575C>A c.(6574-6576)TCG>TAG p.S2192* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2192 24 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGTGCCCCGAACCGGACCC 0.632 NA 7 379 3.6e-14 3.96e-14 1 0 HMCN1 83872 broad.mit.edu 37 1 185815158 185815158 + Missense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:185815158A>T uc001grq.1 + 2 498 c.269A>T c.(268-270)GAA>GTA p.E90V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 90 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ATCTTCACAGAAATTGGCCCA 0.363 NA 6 44 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186084057 186084057 + Nonsense_Mutation SNP C C T rs150673369 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:186084057C>T uc001grq.1 + 74 11612 c.11383C>T c.(11383-11385)CGA>TGA p.R3795* NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3795 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding p.R3795*(1) ovary(22)|skin(1) 23 AGATCGCAGGCGAATAGATTT 0.423 NA 7 154 0 0 0 0 WNT9A 7483 broad.mit.edu 37 1 228109319 228109319 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:228109319C>T uc001hri.2 - 4 1086 c.998G>A c.(997-999)CGG>CAG p.R333Q NM_003395 NP_003386 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, 333 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|pancreas(1) 2 Prostate(94;0.0405) TGTCACCACCCGGCTCTGTGT 0.652 NA 8 38 0 0 0 0 RBM34 23029 broad.mit.edu 37 1 235324512 235324512 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:235324512C>G uc001hwn.2 - 1 60 c.30G>C c.(28-30)AAG>AAC p.K10N RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.K10N NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 10 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TTCTCTTTCTCTTCCGTTTGC 0.622 NA 60 116 0 0 0 0 OR2G2 81470 broad.mit.edu 37 1 247752273 247752273 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:247752273G>A uc010pyy.1 + 1 612 c.612G>A c.(610-612)GTG>GTA p.V204V NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGCTTTTTGTGGCTAGTATCC 0.512 NA 19 80 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 17113504 17113504 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:17113504G>A uc001ioo.2 - 19 2598 c.2546C>T c.(2545-2547)CCC>CTC p.P849L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 849 CUB 4. 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) TTGGCTTTGGGGCTGGTGGAT 0.458 NA 3 63 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648790 62648790 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:62648790C>T uc001jli.2 - 7 1074 c.636G>A c.(634-636)AGG>AGA p.R212R RHOBTB1_uc001jlh.2_Silent_p.R212R|RHOBTB1_uc001jlj.2_Silent_p.R212R|RHOBTB1_uc001jlk.2_Silent_p.R212R|RHOBTB1_uc009xpe.1_Silent_p.R150R|RHOBTB1_uc001jll.2_5'UTR NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 212 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) ATTGCAGGTGCCTGCGGGAAA 0.473 NA 47 174 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88203112 88203112 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:88203112G>A uc001kdo.2 - 17 3773 c.3331C>T c.(3331-3333)CAT>TAT p.H1111Y WAPAL_uc009xsv.2_Missense_Mutation_p.H370Y|WAPAL_uc001kdn.2_Missense_Mutation_p.H1148Y|WAPAL_uc009xsw.2_Missense_Mutation_p.H1105Y NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 1111 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TTGCCGGCATGCTGAAGGGCT 0.398 NA 10 45 0 0 0 0 KCNIP2 30819 broad.mit.edu 37 10 103588905 103588905 + Missense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:103588905C>A uc001kub.2 - 4 627 c.275G>T c.(274-276)GGT>GTT p.G92V KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Missense_Mutation_p.V14F|KCNIP2_uc001ktz.2_Missense_Mutation_p.G47V|KCNIP2_uc009xwu.2_Missense_Mutation_p.G42V|KCNIP2_uc009xwv.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuc.2_Missense_Mutation_p.G107V|KCNIP2_uc001kue.2_Missense_Mutation_p.G74V|KCNIP2_uc001kud.2_Missense_Mutation_p.G42V|KCNIP2_uc001kuf.2_Missense_Mutation_p.G42V|KCNIP2_uc001kua.2_Missense_Mutation_p.V14F|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Missense_Mutation_p.G47V|KCNIP2_uc010qqi.1_Missense_Mutation_p.G42V NM_173191 NP_775283 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 isoform 2 92 EF-hand 1; degenerate. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding 0 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CTGCTCCAGACCCTCAGGCCG 0.617 NA 7 18 5.18e-06 5.47e-06 1 0 PPRC1 23082 broad.mit.edu 37 10 103901291 103901291 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:103901291G>A uc001kum.2 + 5 3065 c.3026G>A c.(3025-3027)AGA>AAA p.R1009K PPRC1_uc001kun.2_Missense_Mutation_p.R889K|PPRC1_uc010qqj.1_Missense_Mutation_p.R1009K|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1009 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TCCATTGGGAGAGCTGTTCCC 0.572 NA 9 40 0 0 0 0 SHOC2 8036 broad.mit.edu 37 10 112760233 112760233 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:112760233G>C uc001kzl.3 + 4 1251 c.902G>C c.(901-903)AGA>ACA p.R301T SHOC2_uc009xxx.2_Missense_Mutation_p.R301T|SHOC2_uc010qrg.1_5'UTR|SHOC2_uc001kzn.2_Missense_Mutation_p.R255T NM_007373 NP_031399 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog 301 LRR 9. fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity ovary(1)|skin(1) 2 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GCAATACCCAGATCATTAGCA 0.323 NA 11 38 0 0 0 0 PRMT3 10196 broad.mit.edu 37 11 20483563 20483563 + Silent SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:20483563G>T uc001mqb.2 + 12 1327 c.1110G>T c.(1108-1110)GTG>GTT p.V370V PRMT3_uc001mqc.2_Silent_p.V293V|PRMT3_uc010rdn.1_Silent_p.V308V NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 370 zinc ion binding 0 TTGTAGCAGTGAGTGATGTGA 0.373 NA 23 93 9.58e-11 1.05e-10 1 0 CCDC34 91057 broad.mit.edu 37 11 27362349 27362349 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:27362349C>G uc001mrh.1 - 5 855 c.801G>C c.(799-801)GAG>GAC p.E267D NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 267 Potential. 0 TTTCCTTTTTCTCCTGTATTT 0.343 NA 16 46 0 0 0 0 DCDC1 341019 broad.mit.edu 37 11 31329370 31329370 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:31329370G>C uc001msv.2 - 4 452 c.250C>G c.(250-252)CAT>GAT p.H84D DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 84 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) GCTGCTGAATGCACGAGTCTG 0.423 NA 39 149 0 0 0 0 QSER1 79832 broad.mit.edu 37 11 32956153 32956153 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:32956153G>C uc001mty.2 + 4 3229 c.2962G>C c.(2962-2964)GAA>CAA p.E988Q QSER1_uc001mtz.1_Missense_Mutation_p.E749Q|QSER1_uc001mua.2_Missense_Mutation_p.E493Q NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 988 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TCTTGAATCTGAAGAAGACAG 0.393 NA 14 46 0 0 0 0 QSER1 79832 broad.mit.edu 37 11 32956461 32956461 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:32956461G>C uc001mty.2 + 4 3537 c.3270G>C c.(3268-3270)CAG>CAC p.Q1090H QSER1_uc001mtz.1_Missense_Mutation_p.Q851H|QSER1_uc001mua.2_Missense_Mutation_p.Q595H NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1090 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) ACAGTAATCAGAAACAGCTGA 0.398 NA 21 82 0 0 0 0 QSER1 79832 broad.mit.edu 37 11 32956840 32956840 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:32956840G>C uc001mty.2 + 4 3916 c.3649G>C c.(3649-3651)GAT>CAT p.D1217H QSER1_uc001mtz.1_Missense_Mutation_p.D978H|QSER1_uc001mua.2_Missense_Mutation_p.D722H NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1217 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) AGATAAAGTTGATAATGAACT 0.398 NA 35 136 0 0 0 0 ACP2 53 broad.mit.edu 37 11 47261735 47261735 + Missense_Mutation SNP C C T rs4647764 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:47261735C>T uc001nei.2 - 11 1321 c.1204G>A c.(1204-1206)GTC>ATC p.V402I ACP2_uc010rhe.1_Missense_Mutation_p.V374I|ACP2_uc009ylj.2_Missense_Mutation_p.V330I|ACP2_uc010rhf.1_Missense_Mutation_p.V370I|ACP2_uc010rhg.1_Missense_Mutation_p.V339I|ACP2_uc010rhh.1_Missense_Mutation_p.V215I NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 402 Cytoplasmic (Potential). integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 CGGAAGAGGACGGTGAGGAGC 0.612 NA 9 40 0 0 0 0 NDUFS3 4722 broad.mit.edu 37 11 47600853 47600853 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:47600853G>A uc001nga.2 + 2 182 c.100G>A c.(100-102)GTG>ATG p.V34M NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_5'Flank|KBTBD4_uc001nfx.2_5'Flank|KBTBD4_uc001nfz.2_5'Flank|KBTBD4_uc001nfy.2_5'Flank|NDUFS3_uc010rhn.1_Missense_Mutation_p.V34M NM_004551 NP_004542 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3 34 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) GTTGCTGCCGGTGAGGCGGGA 0.667 NA 4 55 0 0 0 0 OR5D13 390142 broad.mit.edu 37 11 55540942 55540942 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:55540942G>C uc010ril.1 + 1 29 c.29G>C c.(28-30)AGC>ACC p.S10T NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) AATCAAAGCAGCACACCCACT 0.383 NA 24 85 0 0 0 0 MS4A3 932 broad.mit.edu 37 11 59828723 59828723 + Silent SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:59828723T>C uc001nom.2 + 2 218 c.90T>C c.(88-90)AAT>AAC p.N30N MS4A3_uc001non.2_Silent_p.N30N|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 30 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) AAGAGCTGAATACTTCTGTCT 0.478 NA 35 58 0 0 0 0 SLC29A2 3177 broad.mit.edu 37 11 66136984 66136984 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:66136984G>A uc001oht.2 - 3 360 c.131C>T c.(130-132)GCC>GTC p.A44V SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Missense_Mutation_p.A44V|SLC29A2_uc001ohv.2_Missense_Mutation_p.A44V|uc001ohw.1_RNA NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 44 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 GCCGGCCCCGGCCAGTCGCGC 0.547 NA 5 284 0 0 0 0 RBM4 5936 broad.mit.edu 37 11 66407477 66407477 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:66407477G>C uc009yrj.2 + 2 783 c.295G>C c.(295-297)GAG>CAG p.E99Q RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.E99Q|RBM4_uc001oiw.1_Missense_Mutation_p.E99Q|RBM4_uc001oix.1_Missense_Mutation_p.E99Q|RBM4_uc010rpj.1_Missense_Mutation_p.E99Q|RBM4_uc001oiy.1_Missense_Mutation_p.E99Q|RBM4_uc001oiz.1_Missense_Mutation_p.E99Q NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 99 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) AGCCAAGTTTGAGGAGTATGG 0.512 NA 57 164 0 0 0 0 NUDT8 254552 broad.mit.edu 37 11 67395432 67395432 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:67395432C>T uc001omo.1 - 4 715 c.696G>A c.(694-696)CTG>CTA p.L232L NUDT8_uc001omn.2_3'UTR NM_181843 NP_862826 Q8WV74 NUDT8_HUMAN nudix-type motif 8 232 mitochondrion hydrolase activity|metal ion binding 0 GACCTTTATTCAGTCCTGGAG 0.642 NA 6 28 0 0 0 0 ORAOV1 220064 broad.mit.edu 37 11 69486560 69486560 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:69486560C>G uc001opc.2 - 3 342 c.184G>C c.(184-186)GCA>CCA p.A62P ORAOV1_uc010rqi.1_Missense_Mutation_p.A62P|ORAOV1_uc009ysm.2_Intron|ORAOV1_uc001opd.2_Intron|ORAOV1_uc001ope.1_Missense_Mutation_p.A62P NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 62 0 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CATTTCCATGCAAAAGCAAAA 0.368 NA 15 413 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70031712 70031712 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:70031712G>C uc001opj.2 + 25 2910 c.2605G>C c.(2605-2607)GAG>CAG p.E869Q ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E578Q|ANO1_uc010rql.1_Missense_Mutation_p.E43Q NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 869 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 AGACTACCGAGAGCCGCCGTG 0.617 NA 15 220 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76872097 76872097 + Nonsense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:76872097A>T uc001oyb.2 + 12 1551 c.1279A>T c.(1279-1281)AAG>TAG p.K427* MYO7A_uc010rsl.1_Nonsense_Mutation_p.K427*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.K416*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.K427* NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 427 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCAGGATGTGAAGAACTCTCG 0.542 NA 8 20 0 0 0 0 USP35 57558 broad.mit.edu 37 11 77911809 77911809 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:77911809C>T uc009yva.1 + 6 1398 c.1152C>T c.(1150-1152)TTC>TTT p.F384F USP35_uc001oze.2_Silent_p.F140F|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.F115F NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 384 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TGTTCCGGTTCCCGGGCTTCC 0.622 NA 5 26 0 0 0 0 VSIG2 23584 broad.mit.edu 37 11 124618357 124618357 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr11:124618357C>T uc001qas.2 - 6 856 c.780G>A c.(778-780)GCG>GCA p.A260A VSIG2_uc001qat.2_Silent_p.A260A NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 260 Helical; (Potential). integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) CCAGGCAGAACGCAGCAACTG 0.607 NA 33 48 0 0 0 0 KDM5A 5927 broad.mit.edu 37 12 463358 463358 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:463358C>T uc001qif.1 - 8 1276 c.913G>A c.(913-915)GAA>AAA p.E305K KDM5A_uc001qie.1_Missense_Mutation_p.E305K|KDM5A_uc010sdn.1_Missense_Mutation_p.E264K|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 305 PHD-type 1. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AATTTATCTTCATTGTTTCCC 0.313 NA T NUP98 AML 8 39 0 0 0 0 CD163L1 283316 broad.mit.edu 37 12 7522052 7522052 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:7522052G>A uc001qsy.2 - 15 3966 c.3940C>T c.(3940-3942)CGG>TGG p.R1314W CD163L1_uc010sge.1_Missense_Mutation_p.R1324W NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1314 SRCR 12.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CCTTTGCACCGCATGTCATCC 0.572 NA 4 93 0 0 0 0 BICD1 636 broad.mit.edu 37 12 32490488 32490488 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:32490488G>C uc001rku.2 + 7 2389 c.2308G>C c.(2308-2310)GAG>CAG p.E770Q BICD1_uc001rkv.2_Missense_Mutation_p.E770Q|BICD1_uc010skd.1_RNA|BICD1_uc001rkw.1_Missense_Mutation_p.E52Q NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 770 Potential.|Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCAGCTGCAGAGGATGAGAA 0.463 NA 10 39 0 0 0 0 RACGAP1 29127 broad.mit.edu 37 12 50388028 50388028 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:50388028G>C uc001rvt.2 - 14 1535 c.1225C>G c.(1225-1227)CTC>GTC p.L409V RACGAP1_uc009zlm.1_Missense_Mutation_p.L409V|RACGAP1_uc001rvs.2_Missense_Mutation_p.L409V|RACGAP1_uc001rvu.2_Missense_Mutation_p.L409V NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 409 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 ACTTTGCTGAGGAGGGGTACA 0.438 NA 26 91 0 0 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51279041 51279041 + Missense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:51279041A>T uc001rwx.3 + 4 712 c.665A>T c.(664-666)AAT>ATT p.N222I TMPRSS12_uc001rwy.2_Missense_Mutation_p.N222I NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 222 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 AACGCTACAAATATTTTACAA 0.328 NA 20 85 0 0 0 0 RARG 5916 broad.mit.edu 37 12 53605612 53605612 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:53605612G>C uc001sce.2 - 10 1698 c.1213C>G c.(1213-1215)CCA>GCA p.P405A RARG_uc001scd.2_Missense_Mutation_p.P394A|RARG_uc010sob.1_Missense_Mutation_p.P383A|RARG_uc001scf.2_Missense_Mutation_p.P405A|RARG_uc001scg.2_Missense_Mutation_p.P333A|RARG_uc010soc.1_Missense_Mutation_p.P284A NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 405 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) ATCGGGCCTGGAATCTCCATC 0.547 NA 19 61 0 0 0 0 SHMT2 6472 broad.mit.edu 37 12 57627425 57627425 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:57627425G>A uc001snf.1 + 9 1113 c.1103G>A c.(1102-1104)CGA>CAA p.R368Q SHMT2_uc001sng.1_Missense_Mutation_p.R264Q|SHMT2_uc001snh.1_Missense_Mutation_p.R207Q|SHMT2_uc009zpk.1_Missense_Mutation_p.R358Q|SHMT2_uc001sni.1_Missense_Mutation_p.R347Q|SHMT2_uc010srg.1_Missense_Mutation_p.R377Q|SHMT2_uc001snj.1_Missense_Mutation_p.R272Q|SHMT2_uc010srh.1_Missense_Mutation_p.R347Q|SHMT2_uc001snk.1_Missense_Mutation_p.R272Q|SHMT2_uc010sri.1_Missense_Mutation_p.R347Q|SHMT2_uc001snl.2_Missense_Mutation_p.R272Q|SHMT2_uc010srj.1_Missense_Mutation_p.R23Q NM_005412 NP_005403 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 368 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity ovary(1)|central_nervous_system(1) 2 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGCTAGAGCGAGGCTACTCA 0.587 NA 7 34 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70964817 70964817 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:70964817T>C uc001swb.3 - 11 2735 c.2705A>G c.(2704-2706)GAG>GGG p.E902G PTPRB_uc010sto.1_Missense_Mutation_p.E902G|PTPRB_uc010stp.1_Missense_Mutation_p.E812G|PTPRB_uc001swc.3_Missense_Mutation_p.E1120G|PTPRB_uc001swa.3_Missense_Mutation_p.E1032G|PTPRB_uc001swd.3_Missense_Mutation_p.E1119G|PTPRB_uc009zrr.1_Missense_Mutation_p.E999G NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 902 Fibronectin type-III 10.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTGAAGCCCTCAATGAAGGC 0.443 NA 3 44 0 0 0 0 BBS10 79738 broad.mit.edu 37 12 76740543 76740543 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:76740543C>T uc001syd.1 - 2 1306 c.1222G>A c.(1222-1224)GAA>AAA p.E408K NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 408 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 TCATGTTGTTCAATGAGACCA 0.368 NA Bardet-Biedl_syndrome 17 43 0 0 0 0 ANO4 121601 broad.mit.edu 37 12 101510524 101510524 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:101510524G>A uc010svm.1 + 25 3090 c.2518G>A c.(2518-2520)GAG>AAG p.E840K ANO4_uc001thw.2_Missense_Mutation_p.E805K|ANO4_uc001thx.2_Missense_Mutation_p.E840K|ANO4_uc001thy.2_Missense_Mutation_p.E360K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 840 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GAACCGATCTGAGCCTGAATC 0.512 NA HNSCC(74;0.22) 23 93 0 0 0 0 ALKBH2 121642 broad.mit.edu 37 12 109526080 109526080 + Silent SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:109526080G>T uc001tnx.2 - 4 1110 c.717C>A c.(715-717)CCC>CCA p.P239P ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR NM_001145374 NP_001138846 Q6NS38 ALKB2_HUMAN AlkB homolog 2 239 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) TCTTTCTCACGGGAAGACTGT 0.483 NA Direct_reversal_of_damage 4 138 0.00909568 0.00934107 1 0 CLIP1 6249 broad.mit.edu 37 12 122825752 122825752 + Silent SNP T T G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:122825752T>G uc001ucg.1 - 10 2105 c.1999A>C c.(1999-2001)AGA>CGA p.R667R CLIP1_uc001uch.1_Silent_p.R656R|CLIP1_uc001uci.1_Silent_p.R621R|CLIP1_uc001ucj.1_Silent_p.R357R|CLIP1_uc009zxo.1_Silent_p.R223R NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 667 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TAATCTAGTCTCATTTTCTCT 0.433 NA 35 119 0 0 0 0 GOLGA3 2802 broad.mit.edu 37 12 133363026 133363026 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:133363026G>A uc001ukz.1 - 15 3581 c.3022C>T c.(3022-3024)CGC>TGC p.R1008C GOLGA3_uc001ula.1_Missense_Mutation_p.R1008C|GOLGA3_uc001ulb.2_Missense_Mutation_p.R1008C NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 1008 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGCAGGCGGCGGCTGAGGATG 0.657 NA 9 13 0 0 0 0 PARP4 143 broad.mit.edu 37 13 25008562 25008562 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr13:25008562A>G uc001upl.2 - 31 4823 c.4717T>C c.(4717-4719)TGG>CGG p.W1573R NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1573 Interaction with the major vault protein. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGTTCTGTCCAAGGCACAGCA 0.423 NA 14 60 0 0 0 0 B3GALTL 145173 broad.mit.edu 37 13 31821997 31821997 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr13:31821997C>G uc010aaz.2 + 6 463 c.353C>G c.(352-354)TCT>TGT p.S118C NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 118 Lumenal (Potential). fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GTCAGTTTTTCTGTAACATAT 0.338 NA 6 14 0 0 0 0 ZIC2 7546 broad.mit.edu 37 13 100635121 100635121 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr13:100635121A>G uc001von.2 + 1 803 c.803A>G c.(802-804)AAT>AGT p.N268S NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 268 C2H2-type 1; atypical. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAACTGAGCAATCCCAAGAAG 0.532 NA 24 92 0 0 0 0 NEDD8 4738 broad.mit.edu 37 14 24686415 24686415 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:24686415G>C uc001wnn.2 - 4 267 c.164C>G c.(163-165)ACA>AGA p.T55R CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA NM_006156 NP_006147 Q15843 NEDD8_HUMAN neural precursor cell expressed, developmentally 55 anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process nucleus ubiquitin protein ligase binding 0 GBM - Glioblastoma multiforme(265;0.0186) ATCAGCTGCTGTCTTCTCATC 0.368 NA 14 30 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47504314 47504314 + Missense_Mutation SNP A A C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:47504314A>C uc001wwj.3 - 8 1708 c.1512T>G c.(1510-1512)AAT>AAG p.N504K MDGA2_uc001wwi.3_Missense_Mutation_p.N275K|MDGA2_uc010ani.2_Missense_Mutation_p.N64K NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 504 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCCTAGATACATTCACAATCC 0.428 NA 23 122 0 0 0 0 SOS2 6655 broad.mit.edu 37 14 50597372 50597372 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:50597372C>T uc001wxs.3 - 20 3282 c.3184G>A c.(3184-3186)GAA>AAA p.E1062K SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1029K NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1062 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) TTACATGGTTCTCTTTCTAAT 0.438 NA 15 77 0 0 0 0 SOS2 6655 broad.mit.edu 37 14 50597378 50597378 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:50597378C>T uc001wxs.3 - 20 3276 c.3178G>A c.(3178-3180)GAA>AAA p.E1060K SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.E1027K NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1060 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GGTTCTCTTTCTAATGGTGTT 0.438 NA 16 74 0 0 0 0 C14orf50 145376 broad.mit.edu 37 14 65041274 65041274 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:65041274C>T uc001xhl.1 + 8 731 c.635C>T c.(634-636)GCC>GTC p.A212V NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 212 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) CTGGGCTTGGCCGTGCCGGAT 0.438 NA 4 105 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79175742 79175742 + Missense_Mutation SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:79175742G>T uc001xun.2 + 4 776 c.285G>T c.(283-285)ATG>ATT p.M95I NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.M229I NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 468 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTAAACGTATGGGCTCCATCT 0.517 NA 16 73 6.32e-08 6.83e-08 1 0 DICER1 23405 broad.mit.edu 37 14 95596530 95596530 + Splice_Site SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr14:95596530C>T uc001ydw.2 - 6 621 c.439_splice c.e6-1 p.V147_splice DICER1_uc001ydv.2_Splice_Site_p.V137_splice|DICER1_uc001ydx.2_Splice_Site_p.V147_splice NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TAATGAGAACCTAAAATAAAA 0.333 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 4 20 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25924588 25924588 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:25924588G>A uc010ayu.2 - 21 4506 c.4400C>T c.(4399-4401)GCG>GTG p.A1467V NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1467 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCACGTCCCGCTTGTCCATC 0.567 NA 10 40 0 0 0 0 SERF2 10169 broad.mit.edu 37 15 44085227 44085227 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:44085227C>T uc001zsz.3 + 2 160 c.62C>T c.(61-63)TCG>TTG p.S21L ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.S21L|SERF2_uc010uee.1_5'UTR|C15orf63_uc001ztb.2_5'UTR NM_001018108 NP_001018118 P84101 SERF2_HUMAN small EDRK-rich factor 2 21 cytosol|nucleus 0 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CAGAGCGACTCGGTTAAGGGA 0.597 NA 6 24 0 0 0 0 SQRDL 58472 broad.mit.edu 37 15 45962152 45962152 + Silent SNP T T G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:45962152T>G uc001zvt.2 + 5 621 c.432T>G c.(430-432)GCT>GCG p.A144A SQRDL_uc001zvu.2_Silent_p.A144A|SQRDL_uc001zvv.2_Silent_p.A144A NM_021199 NP_067022 Q9Y6N5 SQRD_HUMAN sulfide dehydrogenase like precursor 144 oxidoreductase activity ovary(1) 1 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TTATTATTGCTCTCGGAATCC 0.433 NA 27 156 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79339164 79339164 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:79339164G>A uc002beq.2 - 5 1177 c.802C>T c.(802-804)CGC>TGC p.R268C RASGRF1_uc002bep.2_Missense_Mutation_p.R268C|RASGRF1_uc010blm.1_Missense_Mutation_p.R190C|RASGRF1_uc002ber.3_Missense_Mutation_p.R268C NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 268 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 CGCAGCGGGCGCAGGAAATTG 0.587 NA 13 75 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81598343 81598343 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:81598343G>A uc002bgh.3 + 17 3891 c.3515G>A c.(3514-3516)GGG>GAG p.G1172E IL16_uc010blq.1_Missense_Mutation_p.G1126E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G1214E|IL16_uc002bgg.2_Missense_Mutation_p.G1172E|IL16_uc002bgi.1_Missense_Mutation_p.G562E|IL16_uc002bgj.2_Missense_Mutation_p.G666E|IL16_uc002bgk.2_Missense_Mutation_p.G471E|IL16_uc002bgl.1_Missense_Mutation_p.G471E|IL16_uc010unq.1_Missense_Mutation_p.G471E NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1172 PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TCTCTCAAGGGGACCACGCAC 0.567 NA 38 152 0 0 0 0 SH3GL3 6457 broad.mit.edu 37 15 84241361 84241361 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:84241361G>A uc002bjw.2 + 5 571 c.376G>A c.(376-378)GAG>AAG p.E126K SH3GL3_uc010uot.1_Missense_Mutation_p.E126K|SH3GL3_uc002bjx.2_Missense_Mutation_p.E57K|SH3GL3_uc002bju.2_Missense_Mutation_p.E134K|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 126 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GCTAATGGCTGAGGTGAAAGA 0.353 NA 10 54 0 0 0 0 CHSY1 22856 broad.mit.edu 37 15 101791398 101791398 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr15:101791398G>A uc002bwt.1 - 2 747 c.264C>T c.(262-264)TTC>TTT p.F88F NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 88 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGACTCCCACGAAGAGAAAGT 0.572 NA 5 8 0 0 0 0 USP7 7874 broad.mit.edu 37 16 8989591 8989591 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:8989591C>G uc002czl.2 - 27 3026 c.2827G>C c.(2827-2829)GAA>CAA p.E943Q USP7_uc010uyk.1_Missense_Mutation_p.E844Q|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.E844Q|USP7_uc002czk.2_Missense_Mutation_p.E927Q NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 943 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CTTACAATTTCTAGCAGCCTG 0.333 NA 17 24 0 0 0 0 IGSF6 10261 broad.mit.edu 37 16 21654396 21654396 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:21654396G>A uc002djg.1 - 5 718 c.665C>T c.(664-666)TCT>TTT p.S222F uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron NM_005849 NP_005840 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 precursor 222 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GBM - Glioblastoma multiforme(48;0.066) TACACTTACAGATTGCTGATT 0.338 NA 44 62 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49764853 49764853 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:49764853G>C uc002efs.2 - 4 404 c.106C>G c.(106-108)CAG>GAG p.Q36E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 36 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CTGGTTTTCTGATCGCACTCT 0.498 NA 45 181 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51172806 51172806 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:51172806C>T uc010vgs.1 - 2 3358 c.3327G>A c.(3325-3327)CCG>CCA p.P1109P SALL1_uc010vgr.1_Silent_p.P1012P|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1109 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAGGCCCAGACGGGACGTGAC 0.562 NA 19 33 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57953078 57953078 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:57953078C>T uc002emt.2 - 20 1947 c.1882G>A c.(1882-1884)GAC>AAC p.D628N CNGB1_uc010cdh.2_Missense_Mutation_p.D622N NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 628 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 CAGAGCATGTCGCAATAGTGC 0.577 NA 19 37 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66975486 66975486 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:66975486C>G uc002eqr.2 + 7 2185 c.1185C>G c.(1183-1185)GAC>GAG p.D395E CES2_uc002eqq.2_Missense_Mutation_p.D395E|CES2_uc002eqs.2_Missense_Mutation_p.D238E NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 331 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) CCTCTGCCGACTTTCAGCCTG 0.592 NA 11 34 0 0 0 0 AP1G1 164 broad.mit.edu 37 16 71823366 71823366 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:71823366C>G uc010cgg.2 - 2 331 c.17G>C c.(16-18)AGA>ACA p.R6T AP1G1_uc002fba.2_Missense_Mutation_p.R6T|AP1G1_uc002fbb.2_Missense_Mutation_p.R29T|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.R88T NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 6 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CTCCCGCAATCTGATGGGGGC 0.438 NA 15 66 0 0 0 0 DHODH 1723 broad.mit.edu 37 16 72046112 72046112 + Missense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:72046112C>A uc002fbp.2 + 2 206 c.185C>A c.(184-186)ACC>AAC p.T62N DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 62 Mitochondrial intermembrane (By similarity). 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) GTTCGCTTCACCTCCCTGGGG 0.567 NA 16 58 9.77e-05 0.000102125 1 0 ZFHX3 463 broad.mit.edu 37 16 72821072 72821072 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:72821072G>A uc002fck.2 - 10 11776 c.11103C>T c.(11101-11103)TTC>TTT p.F3701F uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.F2787F NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3701 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CTTACAATCTGAAGGTGTCCG 0.438 NA 46 172 0 0 0 0 MINK1 50488 broad.mit.edu 37 17 4799024 4799024 + Silent SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:4799024G>T uc010vsl.1 + 27 3457 c.3261G>T c.(3259-3261)CTG>CTT p.L1087L MINK1_uc010vsk.1_Silent_p.L1058L|MINK1_uc010vsm.1_Silent_p.L1067L|MINK1_uc010vsn.1_Silent_p.L1050L|MINK1_uc010vso.1_Silent_p.L995L|MINK1_uc010vsp.1_Silent_p.L548L NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 1087 Mediates interaction with RAP2A.|CNH. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 TGTATTACCTGTCCTGGCTCC 0.602 NA 4 20 0.00024832 0.000258271 1 0 TEKT1 83659 broad.mit.edu 37 17 6722633 6722633 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:6722633C>T uc002gdt.2 - 3 345 c.235G>A c.(235-237)GAC>AAC p.D79N TEKT1_uc010vth.1_Intron NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 79 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) TCAAGTTTGTCATCTAACTCC 0.448 NA 10 36 0 0 0 0 TEKT1 83659 broad.mit.edu 37 17 6722667 6722667 + Silent SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:6722667G>C uc002gdt.2 - 3 311 c.201C>G c.(199-201)CTC>CTG p.L67L TEKT1_uc010vth.1_Intron NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 67 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) GGACTTCCTCGAGTCTCTGTT 0.408 NA 8 24 0 0 0 0 TEKT1 83659 broad.mit.edu 37 17 6722673 6722673 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:6722673C>G uc002gdt.2 - 3 305 c.195G>C c.(193-195)CAG>CAC p.Q65H TEKT1_uc010vth.1_Intron NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 65 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) CCTCGAGTCTCTGTTCTGAAG 0.418 NA 5 24 0 0 0 0 YBX2 51087 broad.mit.edu 37 17 7192917 7192918 + Nonsense_Mutation DNP GG GG AA TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:7192917_7192918GG>AA uc002gfq.2 - 7 1032_1033 c.975_976CC>TT c.(973-978)TTCCAG>TTTTAG p.Q326* NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 326 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 CGTCTCCGCTGGAAGTAGGGGC 0.678 NA 10 36 0 0 0 0 YBX2 51087 broad.mit.edu 37 17 7193599 7193599 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:7193599G>A uc002gfq.2 - 5 772 c.715C>T c.(715-717)CGG>TGG p.R239W NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 239 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 TTGGGAGGCCGGGGGCCTCGC 0.622 NA 39 161 0 0 0 0 USP43 124739 broad.mit.edu 37 17 9631983 9631983 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:9631983C>G uc010cod.2 + 15 3048 c.3048C>G c.(3046-3048)GTC>GTG p.V1016V USP43_uc002gma.3_Silent_p.V705V|USP43_uc010vva.1_Silent_p.V1011V|USP43_uc010coe.2_Silent_p.V813V|USP43_uc002gmc.3_Silent_p.V528V NM_153210 NP_694942 Q70EL4 UBP43_HUMAN ubiquitin specific protease 43 1016 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GGGCAGAGGTCTCTCCACAGG 0.642 NA 9 9 0 0 0 0 MYH13 8735 broad.mit.edu 37 17 10233795 10233795 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:10233795C>T uc002gmk.1 - 21 2434 c.2344G>A c.(2344-2346)GAT>AAT p.D782N NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 782 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AGCTTCTCATCTCTCATCTCC 0.542 NA 7 20 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10359162 10359162 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:10359162C>G uc002gmn.2 - 18 2136 c.2025G>C c.(2023-2025)CGG>CGC p.R675R uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 675 Myosin head-like.|Actin-binding (By similarity). muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GGATGATGCACCGCACAAAGT 0.428 NA 26 113 0 0 0 0 MYOCD 93649 broad.mit.edu 37 17 12656440 12656440 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:12656440C>G uc002gnn.2 + 10 2134 c.1835C>G c.(1834-1836)GCT>GGT p.A612G MYOCD_uc002gno.2_Missense_Mutation_p.A612G|MYOCD_uc002gnp.1_Missense_Mutation_p.A516G|MYOCD_uc002gnq.2_Missense_Mutation_p.A331G NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 612 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTTGGAAATGCTCATTGTGTG 0.512 NA 34 110 0 0 0 0 NEK8 284086 broad.mit.edu 37 17 27061083 27061083 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:27061083G>A uc002hcp.2 + 2 130 c.130G>A c.(130-132)GAG>AAG p.E44K NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 44 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GACCAAGGAAGAGCGGCAGGC 0.527 NA 11 57 0 0 0 0 GIT1 28964 broad.mit.edu 37 17 27903555 27903555 + Silent SNP C C G rs145208703 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:27903555C>G uc002hef.2 - 13 1579 c.1365G>C c.(1363-1365)CGG>CGC p.R455R GIT1_uc002heg.2_Silent_p.R464R|GIT1_uc010wbg.1_Silent_p.R464R|GIT1_uc010csb.1_Silent_p.R455R NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 455 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GCTGCAGCCTCCGGAGCTCGT 0.622 NA 13 49 0 0 0 0 KCNH6 81033 broad.mit.edu 37 17 61623093 61623093 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:61623093G>C uc002jay.2 + 14 2895 c.2815G>C c.(2815-2817)GAG>CAG p.E939Q KCNH6_uc010wpl.1_Missense_Mutation_p.E780Q|KCNH6_uc010wpm.1_Missense_Mutation_p.E903Q|KCNH6_uc002jaz.1_Missense_Mutation_p.E850Q NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 939 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GGAACAGCCTGAGGGGCTCTG 0.582 NA 17 69 0 0 0 0 EVPL 2125 broad.mit.edu 37 17 74003878 74003878 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr17:74003878G>A uc002jqi.2 - 22 5636 c.5408C>T c.(5407-5409)TCC>TTC p.S1803F EVPL_uc010wss.1_Missense_Mutation_p.S1825F|EVPL_uc010wst.1_Missense_Mutation_p.S1273F NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1803 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GGGGGCCGGGGAGGCGAGCGG 0.602 NA 23 64 0 0 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60052041 60052041 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr18:60052041T>A uc002lin.2 + 10 1663 c.1625T>A c.(1624-1626)TTC>TAC p.F542Y TNFRSF11A_uc010dpv.2_Missense_Mutation_p.F225Y NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 542 Cytoplasmic (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) GTGATGAACTTCAAGGGCGAC 0.642 NA Paget_Disease_of_Bone 3 19 0 0 0 0 C19orf29 58509 broad.mit.edu 37 19 3613204 3613204 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:3613204C>G uc002lyh.2 - 9 1691 c.1638G>C c.(1636-1638)CTG>CTC p.L546L C19orf29_uc010xho.1_Silent_p.L5L|C19orf29_uc010dtn.2_Silent_p.L394L|C19orf29_uc002lyi.3_Silent_p.L546L|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 546 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCTGCTGGATCAGGTCCTCCT 0.726 NA 11 32 0 0 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657648 8657648 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:8657648C>T uc002mkj.1 - 13 1860 c.1586G>A c.(1585-1587)GGG>GAG p.G529E ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G161E NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 529 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 GGCGCTCACCCCCTTGTCGAT 0.682 NA 5 20 0 0 0 0 OR7D2 162998 broad.mit.edu 37 19 9296835 9296835 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:9296835C>G uc002mkz.1 + 1 566 c.378C>G c.(376-378)GTC>GTG p.V126V NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 126 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TTGTGGCTGTCTGCCACCCTC 0.512 NA 43 152 0 0 0 0 DNM2 1785 broad.mit.edu 37 19 10883279 10883279 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:10883279C>G uc002mps.1 + 3 524 c.360C>G c.(358-360)ATC>ATG p.I120M DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120M|DNM2_uc002mpv.1_Missense_Mutation_p.I120M|DNM2_uc002mpu.1_Missense_Mutation_p.I120M|DNM2_uc010dxl.1_Missense_Mutation_p.I120M NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 120 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CAGTGCCCATCAACCTTCGAG 0.552 NA 11 40 0 0 0 0 FAM125A 93343 broad.mit.edu 37 19 17534558 17534558 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:17534558T>A uc002ngo.1 + 6 623 c.590T>A c.(589-591)CTG>CAG p.L197Q FAM125A_uc002ngp.1_Missense_Mutation_p.L105Q|FAM125A_uc002ngq.1_Missense_Mutation_p.L93Q NM_138401 NP_612410 Q96EY5 F125A_HUMAN family with sequence similarity 125, member A 197 Interaction with TSG101, VPS37B and VPS28. protein transport late endosome membrane|microtubule organizing center|nucleus SH3 domain binding 0 GCATCCACTCTGCGGAGGAAT 0.602 NA 13 58 0 0 0 0 GDF15 9518 broad.mit.edu 37 19 18499466 18499466 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:18499466C>T uc002niv.2 + 2 680 c.648C>T c.(646-648)GTC>GTT p.V216V NM_004864 NP_004855 Q99988 GDF15_HUMAN growth differentiation factor 15 216 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1) 1 TGCACACGGTCCGCGCGTCGC 0.731 NA OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 16 0 0 0 0 CHST8 64377 broad.mit.edu 37 19 34263838 34263838 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:34263838G>A uc002nus.3 + 5 1650 c.1145G>A c.(1144-1146)CGG>CAG p.R382Q CHST8_uc002nut.3_Missense_Mutation_p.R382Q|CHST8_uc002nuu.2_Missense_Mutation_p.R382Q NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 382 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CAGGAGGCGCGGACCACAGCG 0.612 NA 5 30 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 38997014 38997014 + Silent SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:38997014G>T uc002oit.2 + 55 8743 c.8613G>T c.(8611-8613)CTG>CTT p.L2871L RYR1_uc002oiu.2_Silent_p.L2871L|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2871 6 X approximate repeats.|Cytoplasmic.|6. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCGGGAGCTGCAGGTGAGAG 0.592 NA 7 30 0.00198382 0.0020521 1 0 PAF1 54623 broad.mit.edu 37 19 39879407 39879407 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:39879407C>G uc002old.2 - 9 910 c.735G>C c.(733-735)ATG>ATC p.M245I PAF1_uc002ole.1_Missense_Mutation_p.M235I|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 245 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTACCTAATCATGGCCTGAG 0.547 NA 14 34 0 0 0 0 PAF1 54623 broad.mit.edu 37 19 39879807 39879807 + Nonsense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:39879807C>A uc002old.2 - 7 668 c.493G>T c.(493-495)GAG>TAG p.E165* PAF1_uc002ole.1_Nonsense_Mutation_p.E155*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 165 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ATTTCTTCCTCGGTAAACTGC 0.473 NA 27 85 4.23e-11 4.64e-11 1 0 AKT2 208 broad.mit.edu 37 19 40741810 40741810 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:40741810C>T uc002onf.2 - 11 1424 c.1162G>A c.(1162-1164)GAC>AAC p.D388N AKT2_uc010egs.2_Missense_Mutation_p.D345N|AKT2_uc010egt.2_Missense_Mutation_p.D326N|AKT2_uc010xvj.1_Missense_Mutation_p.D326N|AKT2_uc010egu.1_Missense_Mutation_p.D326N|AKT2_uc002one.2_Missense_Mutation_p.D284N NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 388 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) TGCTTGGGGTCCTTCTTAAGC 0.682 NA A ovarian|pancreatic 3 22 0 0 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895566 45895566 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:45895566C>G uc002pbn.2 - 8 1464 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q PPP1R13L_uc002pbm.2_Missense_Mutation_p.E42Q|PPP1R13L_uc002pbo.2_Missense_Mutation_p.E463Q NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 463 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATCTCCGGCTCAGGCTCCAGC 0.642 NA 6 35 0 0 0 0 SULT2A1 6822 broad.mit.edu 37 19 48389471 48389471 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:48389471G>A uc002phr.2 - 1 184 c.44C>T c.(43-45)ACT>ATT p.T15I NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 15 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GAAACCCATAGTAGGGAAAGC 0.443 NA 6 124 0 0 0 0 FLT3LG 2323 broad.mit.edu 37 19 49979010 49979010 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:49979010C>G uc010yau.1 + 3 186 c.96C>G c.(94-96)TTC>TTG p.F32L FLT3LG_uc002pnv.2_5'UTR|FLT3LG_uc002pnw.2_5'UTR|FLT3LG_uc002pnu.2_Missense_Mutation_p.F32L|FLT3LG_uc002pnx.2_Missense_Mutation_p.F32L|FLT3LG_uc010yav.1_5'UTR NM_001459 NP_001450 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand precursor 32 Extracellular (Potential). positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) ACTGCTCCTTCCAACACAGCC 0.642 NA 13 41 0 0 0 0 ZNF610 162963 broad.mit.edu 37 19 52869339 52869339 + Silent SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:52869339A>G uc002pyx.3 + 6 1114 c.708A>G c.(706-708)GAA>GAG p.E236E ZNF610_uc002pyy.3_Silent_p.E236E|ZNF610_uc002pyz.3_Silent_p.E193E|ZNF610_uc002pza.2_Silent_p.E236E NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 236 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AATGTACTGAATGTGGCAAGG 0.388 NA 10 31 0 0 0 0 ZNF321 399669 broad.mit.edu 37 19 53432295 53432295 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:53432295G>C uc010eqj.2 - 4 685 c.515C>G c.(514-516)TCC>TGC p.S172C ZNF321_uc002qaj.1_Missense_Mutation_p.S119C|ZNF321_uc002qak.1_Missense_Mutation_p.S172C NM_203307 NP_976052 zinc finger protein 321 0 GBM - Glioblastoma multiforme(134;0.0305) CAAAATTAAGGAGGCATTGAT 0.378 NA 25 105 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56466905 56466905 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:56466905G>A uc002qmh.2 + 3 1552 c.1481G>A c.(1480-1482)CGG>CAG p.R494Q NLRP8_uc010etg.2_Missense_Mutation_p.R494Q NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 494 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AGTATTCTTCGGAGAATTGCA 0.468 NA 30 107 0 0 0 0 ZNF550 162972 broad.mit.edu 37 19 58067717 58067717 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr19:58067717C>T uc002qpe.1 - 1 9 c.9G>A c.(7-9)GTG>GTA p.V3V ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_3'UTR|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 12 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCTTGAAGGTCACCAACATCT 0.522 NA 22 108 0 0 0 0 HPCAL1 3241 broad.mit.edu 37 2 10560208 10560208 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:10560208G>A uc002raj.2 + 3 699 c.325G>A c.(325-327)GAC>AAC p.D109N HPCAL1_uc002rak.2_Missense_Mutation_p.D109N|HPCAL1_uc002ral.2_Missense_Mutation_p.D109N|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.D109N NM_002149 NP_002140 P37235 HPCL1_HUMAN hippocalcin-like 1 109 EF-hand 3.|2 (Potential). calcium ion binding pancreas(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) CAGCATGTACGACCTGGACGG 0.667 NA 13 46 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32733227 32733227 + Nonsense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:32733227C>G uc010ezu.2 + 51 10015 c.9881C>G c.(9880-9882)TCA>TGA p.S3294* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3294 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTAGGCCTTTCACAAATTAAA 0.438 NA 4 36 0 0 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227876 37227876 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:37227876G>C uc002rpp.1 - 33 5494 c.5398C>G c.(5398-5400)CAG>GAG p.Q1800E HEATR5B_uc002rpo.1_Missense_Mutation_p.Q113E|HEATR5B_uc010ezy.1_Missense_Mutation_p.Q295E NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1800 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GGAGGAACCTGATTATCTGCA 0.408 NA 21 54 0 0 0 0 CEBPZ 10153 broad.mit.edu 37 2 37443509 37443509 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:37443509C>G uc002rpz.2 - 7 2291 c.2261G>C c.(2260-2262)AGA>ACA p.R754T NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 754 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) ATCCAAAAATCTCATTAGAGT 0.338 NA 26 85 0 0 0 0 KCNG3 170850 broad.mit.edu 37 2 42671137 42671137 + Silent SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:42671137A>G uc002rsn.2 - 2 1844 c.1248T>C c.(1246-1248)TAT>TAC p.Y416Y KCNG3_uc002rsm.2_Silent_p.Y405Y NM_133329 NP_579875 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, 416 Cytoplasmic (Potential). endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1) 1 TGAGCTCATGATAACACTGCA 0.388 NA 16 61 0 0 0 0 CD8A 925 broad.mit.edu 37 2 87013059 87013059 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:87013059G>A uc002srt.2 - 6 1581 c.692C>T c.(691-693)TCG>TTG p.S231L RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.S231L|CD8A_uc010ytn.1_Missense_Mutation_p.S272L|CD8A_uc002sru.2_Missense_Mutation_p.S194L NM_001768 NP_001759 P01732 CD8A_HUMAN CD8 antigen alpha polypeptide isoform 1 231 Cytoplasmic (Potential). antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding ovary(1) 1 GTATCTCGCCGAAAGGCTGGG 0.512 NA 40 132 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141356336 141356336 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:141356336T>A uc002tvj.1 - 43 8030 c.7058A>T c.(7057-7059)AAT>ATT p.N2353I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2353 Extracellular (Potential).|LDL-receptor class B 25. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CACTTGAGCATTTTTCCCAGT 0.368 NA TSP Lung(27;0.18) 9 31 0 0 0 0 NMI 9111 broad.mit.edu 37 2 152135393 152135393 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:152135393G>A uc002txi.2 - 4 619 c.289C>T c.(289-291)CCT>TCT p.P97S NMI_uc010zbx.1_Missense_Mutation_p.P97S|NMI_uc002txj.2_Missense_Mutation_p.P65S NM_004688 NP_004679 Q13287 NMI_HUMAN N-myc and STAT interactor 97 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity 0 BRCA - Breast invasive adenocarcinoma(221;0.0571) ATCTCATAAGGAACTTTCGAG 0.343 NA 5 26 0 0 0 0 IFIH1 64135 broad.mit.edu 37 2 163167287 163167287 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:163167287C>G uc002uce.2 - 2 832 c.610G>C c.(610-612)GAA>CAA p.E204Q IFIH1_uc002ucf.2_Missense_Mutation_p.E204Q NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 204 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GCATTGCTTTCTGAGCAATCA 0.373 NA 12 24 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175446073 175446073 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:175446073G>A uc002uiy.2 - 4 478 c.146C>T c.(145-147)ACG>ATG p.T49M uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T49M|WIPF1_uc010fqt.1_Missense_Mutation_p.T49M|WIPF1_uc002ujc.1_Missense_Mutation_p.T49M|WIPF1_uc002uiz.2_Missense_Mutation_p.T49M|WIPF1_uc002ujb.1_Missense_Mutation_p.T49M|WIPF1_uc010zep.1_Missense_Mutation_p.T49M NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 49 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 ATTGGTGACCGTCTTCTTTAG 0.433 NA 65 238 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179418418 179418418 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:179418418C>G uc010zfg.1 - 283 81834 c.81610G>C c.(81610-81612)GAG>CAG p.E27204Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E20899Q|TTN_uc010zfi.1_Missense_Mutation_p.E20832Q|TTN_uc010zfj.1_Missense_Mutation_p.E20707Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28131 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) TGTCTTATCTCGACAACATAC 0.463 NA 11 62 0 0 0 0 ITGA4 3676 broad.mit.edu 37 2 182347350 182347350 + Missense_Mutation SNP G G T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:182347350G>T uc002unu.2 + 9 1776 c.1013G>T c.(1012-1014)AGA>ATA p.R338I ITGA4_uc010zfl.1_Missense_Mutation_p.R338I NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 338 FG-GAP 5.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAGGAAGGAAGAGTGTTTGTG 0.473 NA 34 130 1.36e-07 1.47e-07 1 0 SPEG 10290 broad.mit.edu 37 2 220334043 220334043 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:220334043C>T uc010fwg.2 + 13 3657 c.3657C>T c.(3655-3657)ATC>ATT p.I1219I NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1219 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACCCCACCATCAGCTGGTTCC 0.642 NA 4 23 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220336980 220336980 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:220336980G>A uc010fwg.2 + 15 3867 c.3867G>A c.(3865-3867)CCG>CCA p.P1289P NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1289 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ATGGCGCCCCGCAGGTGGTGG 0.647 NA 12 62 0 0 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526661 234526661 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:234526661G>A uc002vup.2 + 1 371 c.308G>A c.(307-309)CGA>CAA p.R103Q UGT1A8_uc010zmv.1_Missense_Mutation_p.R103Q NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 103 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GCACAAGTACGAAGTTTGTTT 0.383 NA 35 94 0 0 0 0 SH3BP4 23677 broad.mit.edu 37 2 235949874 235949874 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:235949874G>A uc002vvp.2 + 4 854 c.461G>A c.(460-462)AGA>AAA p.R154K SH3BP4_uc010fym.2_Missense_Mutation_p.R154K|SH3BP4_uc002vvq.2_Missense_Mutation_p.R154K NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 154 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) GTACCAGGCAGAATGTACAGT 0.512 NA 16 68 0 0 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463486 241463486 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:241463486G>C uc002vyz.1 - 7 1610 c.1381C>G c.(1381-1383)CTG>GTG p.L461V ANKMY1_uc002vza.1_Missense_Mutation_p.L320V|ANKMY1_uc010fzd.1_Missense_Mutation_p.L550V|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.L320V|ANKMY1_uc002vzd.1_Missense_Mutation_p.L320V|ANKMY1_uc010fze.1_Missense_Mutation_p.L130V|ANKMY1_uc002vze.2_Missense_Mutation_p.L222V NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 461 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GCACTGCACAGACTGCCCCGG 0.597 NA 16 69 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241702193 241702193 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr2:241702193T>A uc002vzy.2 - 22 2178 c.2032A>T c.(2032-2034)ATG>TTG p.M678L KIF1A_uc010fzk.2_Missense_Mutation_p.M687L|KIF1A_uc002vzz.1_Missense_Mutation_p.M687L NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 678 Potential. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTGGAGTCCATCTGCTTCTGC 0.622 NA 3 10 0 0 0 0 ZNF343 79175 broad.mit.edu 37 20 2464844 2464844 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr20:2464844T>C uc002wge.1 - 6 1251 c.763A>G c.(763-765)AAC>GAC p.N255D ZNF343_uc010gao.1_Missense_Mutation_p.N255D|ZNF343_uc002wgd.1_Missense_Mutation_p.N165D NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTAATAAAGTTTGATTCCAGG 0.438 NA 7 90 0 0 0 0 ITSN1 6453 broad.mit.edu 37 21 35190747 35190747 + Silent SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr21:35190747C>G uc002yta.1 + 23 3172 c.2904C>G c.(2902-2904)CTC>CTG p.L968L DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Silent_p.L963L|ITSN1_uc010gmg.2_Silent_p.L926L|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Silent_p.L968L|ITSN1_uc010gmi.2_Silent_p.L931L|ITSN1_uc010gmj.2_Silent_p.L847L|ITSN1_uc002ysy.2_Silent_p.L963L|ITSN1_uc002ysx.2_Silent_p.L926L|ITSN1_uc002ytb.1_Silent_p.L963L|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Silent_p.L931L|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Silent_p.L963L|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Silent_p.L902L|ITSN1_uc002ytg.1_Silent_p.L21L NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 968 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ACGTGAAACTCATTTCAGGGC 0.393 NA 57 79 0 0 0 0 RGL4 266747 broad.mit.edu 37 22 24035973 24035973 + Missense_Mutation SNP G G A rs145276888 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:24035973G>A uc002zxn.2 + 4 1894 c.724G>A c.(724-726)GAA>AAA p.E242K LOC91316_uc002zxh.3_5'Flank|LOC91316_uc002zxi.3_5'Flank|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Missense_Mutation_p.E242K|RGL4_uc002zxp.1_Missense_Mutation_p.E106K|RGL4_uc002zxq.2_Missense_Mutation_p.E106K NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 242 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 GGTGCTCCACGAATGCTTGGG 0.582 NA 10 47 0 0 0 0 MYO18B 84700 broad.mit.edu 37 22 26343789 26343789 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:26343789G>C uc003abz.1 + 36 5993 c.5743G>C c.(5743-5745)GCT>CCT p.A1915P MYO18B_uc003aca.1_Missense_Mutation_p.A1796P|MYO18B_uc010guy.1_Missense_Mutation_p.A1797P|MYO18B_uc010guz.1_Missense_Mutation_p.A1795P|MYO18B_uc011aka.1_Missense_Mutation_p.A1069P|MYO18B_uc011akb.1_Missense_Mutation_p.A1428P NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1915 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGACCTCATTGCTCAGGTAGT 0.537 NA 7 19 0 0 0 0 TRIOBP 11078 broad.mit.edu 37 22 38131322 38131322 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:38131322C>G uc003atr.2 + 9 5250 c.4979C>G c.(4978-4980)ACC>AGC p.T1660S TRIOBP_uc003atu.2_Missense_Mutation_p.T1488S NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1660 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCTGCCTGCACCTCCACCCAG 0.677 NA OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 28 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46785346 46785346 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:46785346C>T uc003bhw.1 - 18 6396 c.6396G>A c.(6394-6396)CTG>CTA p.L2132L CELSR1_uc011arc.1_Silent_p.L453L NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2132 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCACCAGCTGCAGGGCCCTGG 0.637 NA 9 36 0 0 0 0 MAPK11 5600 broad.mit.edu 37 22 50703900 50703900 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:50703900G>A uc003bkr.2 - 11 923 c.865C>T c.(865-867)CTG>TTG p.L289L MAPK11_uc010hax.2_Silent_p.L111L|MAPK11_uc011ars.1_RNA|MAPK11_uc010hay.1_RNA NM_002751 NP_002742 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 289 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding lung(1)|breast(1) 2 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCAGCACCAGCATCCTTCCA 0.637 NA 4 52 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50886980 50886980 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr22:50886980C>G uc003blh.2 - 37 5338 c.5143G>C c.(5143-5145)GAC>CAC p.D1715H SBF1_uc003ble.2_Missense_Mutation_p.D179H|SBF1_uc003blf.2_Missense_Mutation_p.D191H|SBF1_uc011arx.1_Missense_Mutation_p.D1353H NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1689 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) ACACGGCCGTCTGGCCGGCCC 0.657 NA 4 31 0 0 0 0 RAF1 5894 broad.mit.edu 37 3 12626379 12626379 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:12626379C>T uc003bxf.3 - 16 2185 c.1770G>A c.(1768-1770)AAG>AAA p.K590K RAF1_uc011aut.1_Silent_p.K375K|RAF1_uc011auu.1_Silent_p.K508K NM_002880 NP_002871 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 590 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|SRGAP3/RAF1(4) central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1) 14 Sorafenib(DB00398) CCTTTACTTTCTTCACACAGT 0.463 NA T SRGAP3 pilocytic astrocytoma Noonan_syndrome 24 71 0 0 0 0 NUP210 23225 broad.mit.edu 37 3 13368824 13368824 + Missense_Mutation SNP G G A rs147955019 byFrequency TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:13368824G>A uc003bxv.1 - 32 4483 c.4400C>T c.(4399-4401)TCG>TTG p.S1467L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1467 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CATGAAGTCCGAGAGGCCCGG 0.652 NA 7 26 0 0 0 0 ZNF860 344787 broad.mit.edu 37 3 32030581 32030581 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:32030581G>A uc011axg.1 + 2 559 c.10G>A c.(10-12)GAG>AAG p.E4K NM_001137674 NP_001131146 A6NHJ4 ZN860_HUMAN zinc finger protein 860 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATGTTACGTGAGGAAGCAGC 0.408 NA 14 72 0 0 0 0 CSPG5 10675 broad.mit.edu 37 3 47618627 47618627 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:47618627C>T uc003crp.3 - 2 1065 c.889G>A c.(889-891)GAA>AAA p.E297K CSPG5_uc003crn.2_Missense_Mutation_p.E159K|CSPG5_uc003cro.3_Missense_Mutation_p.E297K|CSPG5_uc011bbb.1_Missense_Mutation_p.E159K NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 297 Interaction with TNC and TNR (By similarity).|Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AGCTCATTTTCATCTTCTAGG 0.413 NA 7 25 0 0 0 0 CSPG5 10675 broad.mit.edu 37 3 47618876 47618876 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:47618876C>T uc003crp.3 - 2 816 c.640G>A c.(640-642)GAA>AAA p.E214K CSPG5_uc003crn.2_Missense_Mutation_p.E76K|CSPG5_uc003cro.3_Missense_Mutation_p.E214K|CSPG5_uc011bbb.1_Missense_Mutation_p.E76K NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 214 Extracellular (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCCAGTCCTTCGAAGTAGTCG 0.592 NA 13 41 0 0 0 0 DHX30 22907 broad.mit.edu 37 3 47889747 47889747 + Silent SNP C C T rs147501030 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:47889747C>T uc003cru.2 + 15 2790 c.2364C>T c.(2362-2364)TCC>TCT p.S788S DHX30_uc003crt.2_Silent_p.S749S|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 788 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) gcTGCCAGTCCGGCTTTGCCT 0.502 NA 12 38 0 0 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:49412905C>G uc003cwu.2 - 2 394 c.118G>C c.(118-120)GAG>CAG p.E40Q RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 40 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438 NA 39 135 0 0 0 0 STAB1 23166 broad.mit.edu 37 3 52539121 52539121 + Silent SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:52539121C>A uc003dej.2 + 13 1554 c.1480C>A c.(1480-1482)CGG>AGG p.R494R STAB1_uc003dei.1_Silent_p.R494R NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 494 Extracellular (Potential).|FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACTGGCCTGCGGTGGCAGGC 0.597 NA 23 94 9.04e-07 9.65e-07 1 0 FAM116A 201627 broad.mit.edu 37 3 57619070 57619070 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:57619070C>G uc003dja.2 - 15 1346 c.1275G>C c.(1273-1275)CAG>CAC p.Q425H NM_152678 NP_689891 Q8IWF6 F116A_HUMAN hypothetical protein LOC201627 425 pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) AAGGACGTTTCTGTTGTACAC 0.299 NA 16 53 0 0 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64526789 64526789 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:64526789T>C uc003dmg.2 - 36 5535 c.5503A>G c.(5503-5505)ACC>GCC p.T1835A ADAMTS9_uc011bfo.1_Missense_Mutation_p.T1807A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.T746A NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1835 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCATGCTGGTCAGGTCTATT 0.493 NA 18 52 0 0 0 0 MAGI1 9223 broad.mit.edu 37 3 65425588 65425588 + Silent SNP C C T rs139785185 TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:65425588C>T uc003dmn.2 - 9 1762 c.1236G>A c.(1234-1236)CAG>CAA p.Q412Q MAGI1_uc003dmm.2_Silent_p.Q412Q|MAGI1_uc003dmo.2_Silent_p.Q412Q|MAGI1_uc003dmp.2_Silent_p.Q412Q|MAGI1_uc010hny.2_Silent_p.Q297Q NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 412 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgttgctgct 0.343 NA OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 93 0 0 0 0 SLC9A10 285335 broad.mit.edu 37 3 111886130 111886130 + Missense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:111886130A>T uc003dyu.2 - 26 3524 c.3302T>A c.(3301-3303)TTC>TAC p.F1101Y SLC9A10_uc011bhu.1_Missense_Mutation_p.F364Y|SLC9A10_uc010hqc.2_Missense_Mutation_p.F1053Y NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 1101 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATTCCTTCTGAATGTTTTCAT 0.303 NA 4 22 0 0 0 0 UMPS 7372 broad.mit.edu 37 3 124462850 124462850 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:124462850C>T uc003ehl.3 + 6 1468 c.1362C>T c.(1360-1362)ATC>ATT p.I454I UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Silent_p.I276I|UMPS_uc011bkb.1_Silent_p.I362I|UMPS_uc011bkc.1_Silent_p.I276I|UMPS_uc003ehn.3_Silent_p.I276I|UMPS_uc011bkd.1_Silent_p.I179I NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 454 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) GTGGCATAATCTCAGCAGCTG 0.433 NA 12 22 0 0 0 0 MUC13 56667 broad.mit.edu 37 3 124641076 124641076 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:124641076A>G uc003ehq.1 - 4 733 c.709T>C c.(709-711)TAT>CAT p.Y237H NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 237 SEA.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 AAGTCTTGATAGGCCATGGAA 0.373 NA 7 36 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130452474 130452474 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:130452474G>C uc003enj.2 - 4 1949 c.1368C>G c.(1366-1368)ATC>ATG p.I456M NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 456 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 GATAAATATTGATATCATTAC 0.448 NA 12 40 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151155070 151155070 + Nonsense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:151155070C>A uc011bod.1 - 6 7279 c.7279G>T c.(7279-7281)GAA>TAA p.E2427* IGSF10_uc011bob.1_Nonsense_Mutation_p.E454*|IGSF10_uc011boc.1_Nonsense_Mutation_p.E406* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2427 Ig-like C2-type 10. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGCCAATTTCTAATATGACT 0.403 NA 15 76 3.27e-08 3.55e-08 1 0 MME 4311 broad.mit.edu 37 3 154832894 154832894 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:154832894G>A uc010hvr.1 + 4 519 c.308G>A c.(307-309)CGT>CAT p.R103H MME_uc003fab.1_Missense_Mutation_p.R103H|MME_uc003fac.1_Missense_Mutation_p.R103H|MME_uc003fad.1_Missense_Mutation_p.R103H|MME_uc003fae.1_Missense_Mutation_p.R103H NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 103 Extracellular (Potential). Substrate carboxyl (By similarity). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.R103L(1) ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ACCAGCTCCCGTTACGGCAAC 0.413 NA 20 83 0 0 0 0 SEC62 7095 broad.mit.edu 37 3 169703609 169703609 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:169703609A>G uc003fgg.2 + 6 597 c.566A>G c.(565-567)TAT>TGT p.Y189C SEC62_uc003fgh.2_Missense_Mutation_p.Y189C NM_003262 NP_003253 Q99442 SEC62_HUMAN translocation protein 1 189 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity ovary(1) 1 GTATGGATCTATGACCCAGTT 0.308 NA 12 48 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195501148 195501148 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:195501148G>A uc011bto.1 - 5 13048 c.12588C>T c.(12586-12588)GGC>GGT p.G4196G MUC4_uc003fuz.2_Missense_Mutation_p.A4V|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_Silent_p.G65G|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.G65G|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.G88G|MUC4_uc003fvp.2_Silent_p.G37G|MUC4_uc010hzu.1_Silent_p.G936G NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1081 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) GGTCCCCGGCGCCTGCCCCAT 0.627 NA 26 32 0 0 0 0 PACRGL 133015 broad.mit.edu 37 4 20711361 20711361 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:20711361C>G uc010iek.2 + 5 722 c.331C>G c.(331-333)CTT>GTT p.L111V PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Missense_Mutation_p.L159V|PACRGL_uc003gpz.2_Missense_Mutation_p.L111V|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Missense_Mutation_p.L111V|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 111 binding 0 TCCTGAAAGTCTTTCATTTGA 0.289 NA 16 82 0 0 0 0 PCDH7 5099 broad.mit.edu 37 4 30724333 30724333 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:30724333C>T uc003gsk.1 + 1 2297 c.1289C>T c.(1288-1290)GCC>GTC p.A430V PCDH7_uc011bxw.1_Missense_Mutation_p.A383V|PCDH7_uc011bxx.1_Missense_Mutation_p.A430V NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 430 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GACGGGGTGGCCAACGTGGCC 0.617 NA 3 24 0 0 0 0 EPHA5 2044 broad.mit.edu 37 4 66197845 66197845 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:66197845C>T uc003hcy.2 - 17 3047 c.2854G>A c.(2854-2856)GTA>ATA p.V952I EPHA5_uc003hcx.2_Missense_Mutation_p.V884I|EPHA5_uc003hcz.2_Missense_Mutation_p.V930I|EPHA5_uc011cah.1_Missense_Mutation_p.V953I|EPHA5_uc011cai.1_Missense_Mutation_p.V931I|EPHA5_uc003hda.2_Missense_Mutation_p.V953I NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 952 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAATTAGATACTCTAAAACAC 0.333 NA TSP Lung(17;0.13) 3 24 0 0 0 0 CXCL2 2920 broad.mit.edu 37 4 74964583 74964583 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:74964583G>A uc003hhm.3 - 2 317 c.157C>T c.(157-159)CAC>TAC p.H53Y NM_002089 NP_002080 P19875 CXCL2_HUMAN chemokine (C-X-C motif) ligand 2 53 chemotaxis|immune response|inflammatory response|response to molecule of bacterial origin extracellular space|soluble fraction chemokine activity 0 Breast(15;0.00612) all cancers(17;0.00317)|Lung(101;0.196) TTCTTGAGGTGAATTCCCTGC 0.617 NA 31 142 0 0 0 0 SPARCL1 8404 broad.mit.edu 37 4 88415749 88415749 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:88415749G>A uc010ikm.2 - 5 775 c.203C>T c.(202-204)GCT>GTT p.A68V SPARCL1_uc011cdc.1_Intron|SPARCL1_uc003hqs.3_Missense_Mutation_p.A68V|SPARCL1_uc011cdd.1_5'UTR|SPARCL1_uc003hqt.2_Missense_Mutation_p.A68V NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 68 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TGATTTTTCAGCCTTAAAAGA 0.338 NA 3 36 0 0 0 0 COL25A1 84570 broad.mit.edu 37 4 109783686 109783686 + Missense_Mutation SNP A A C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:109783686A>C uc003hze.1 - 21 1699 c.1168T>G c.(1168-1170)TCA>GCA p.S390A COL25A1_uc003hzg.2_Missense_Mutation_p.S390A|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Intron NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 390 Extracellular (Potential).|Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CTAGTTCCTGATTCACCTTGT 0.373 NA 110 221 0 0 0 0 CCNA2 890 broad.mit.edu 37 4 122740557 122740557 + Silent SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:122740557A>T uc003iec.3 - 5 1277 c.972T>A c.(970-972)CCT>CCA p.P324P NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 324 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 TGCAGTTTGCAGGCTGCTGAT 0.373 NA 3 52 0 0 0 0 CLGN 1047 broad.mit.edu 37 4 141320051 141320051 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:141320051C>T uc011chi.1 - 9 1056 c.838G>A c.(838-840)GAA>AAA p.E280K CLGN_uc003iii.2_Missense_Mutation_p.E280K NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 280 Lumenal (Potential).|1-1. protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) TTTGCTCTTTCATCCCATTCC 0.358 NA 29 190 0 0 0 0 TRIM2 23321 broad.mit.edu 37 4 154197120 154197120 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:154197120C>T uc003ing.2 + 3 411 c.210C>T c.(208-210)CCC>CCT p.P70P TRIM2_uc003inh.2_Silent_p.P97P|TRIM2_uc003ini.1_Silent_p.P88P NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 70 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CCATCCTGCCCGAGAAAGGGG 0.577 NA 13 68 0 0 0 0 HAND2 9464 broad.mit.edu 37 4 174449933 174449933 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr4:174449933C>T uc003ith.1 - 1 1446 c.508G>A c.(508-510)GAG>AAG p.E170K NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.R135K|HAND2_uc010ire.1_Missense_Mutation_p.E170K NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 170 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TTCTTGATCTCTGCCTTGAAG 0.612 NA 9 34 0 0 0 0 CDH6 1004 broad.mit.edu 37 5 31297509 31297509 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:31297509G>A uc003jhe.1 + 4 963 c.637G>A c.(637-639)GAA>AAA p.E213K CDH6_uc003jhd.1_Missense_Mutation_p.E213K NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 213 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AGTTGAATCAGAAACAGGTTA 0.348 NA 10 46 0 0 0 0 PTGER4 5734 broad.mit.edu 37 5 40681496 40681496 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:40681496G>C uc003jlz.2 + 2 993 c.401G>C c.(400-402)CGA>CCA p.R134P NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 134 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 GTGGACAAGCGATTGGCGGGC 0.587 NA OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 127 0 0 0 0 C5orf34 375444 broad.mit.edu 37 5 43503812 43503812 + Missense_Mutation SNP T T G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:43503812T>G uc003jnz.1 - 6 1300 c.983A>C c.(982-984)TAT>TCT p.Y328S NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 328 breast(1) 1 Lung NSC(6;2.07e-05) TAGTTCAGGATAGGAATATTC 0.353 NA 26 112 0 0 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589592 67589592 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:67589592A>G uc003jva.2 + 11 1915 c.1355A>G c.(1354-1356)TAT>TGT p.Y452C PIK3R1_uc003jvb.2_Missense_Mutation_p.Y452C|PIK3R1_uc003jvc.2_Missense_Mutation_p.Y152C|PIK3R1_uc003jvd.2_Missense_Mutation_p.Y182C|PIK3R1_uc003jve.2_Missense_Mutation_p.Y131C|PIK3R1_uc011crb.1_Missense_Mutation_p.Y122C NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 452 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(2)|p.G446_Y452>VI(1)|p.E451_Y452del(1)|p.?(1)|p.Y452_Q455>SGGSRIK(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTACATGAATATAACACTCAG 0.279 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 19 45 0 0 0 0 MEF2C 4208 broad.mit.edu 37 5 88057031 88057031 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:88057031C>T uc003kjj.2 - 4 1046 c.373G>A c.(373-375)GAT>AAT p.D125N MEF2C_uc003kji.2_Missense_Mutation_p.D125N|MEF2C_uc003kjk.2_Missense_Mutation_p.D125N|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 125 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ATCATTAGATCAATATCTTCG 0.453 NA HNSCC(66;0.2) 28 92 0 0 0 0 ANXA6 309 broad.mit.edu 37 5 150512081 150512081 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr5:150512081C>T uc003ltl.1 - 10 844 c.692G>A c.(691-693)CGA>CAA p.R231Q ANXA6_uc011dcp.1_Missense_Mutation_p.R199Q|ANXA6_uc003ltm.1_Missense_Mutation_p.R231Q|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 231 Annexin 3. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding p.R231Q(1) 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCTCCCCTCGGATGCTGGC 0.552 NA 7 15 0 0 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313378 1313378 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:1313378G>A uc003mtl.3 + 1 704 c.439G>A c.(439-441)GAG>AAG p.E147K NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 147 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GGAGATCAACGAGTACCTCAT 0.637 NA 8 38 0 0 0 0 CCDC90A 63933 broad.mit.edu 37 6 13792146 13792146 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:13792146C>G uc003nbd.2 - 8 1116 c.988G>C c.(988-990)GAG>CAG p.E330Q uc003nbc.1_5'Flank|CCDC90A_uc010jpf.2_RNA NM_001031713 NP_001026883 Q96AQ8 CC90A_HUMAN coiled-coil domain containing 90A precursor 330 integral to membrane|mitochondrion 0 Breast(50;0.0027)|Ovarian(93;0.0964) all_hematologic(90;0.117) TTGTGTGACTCAAGCATGGTT 0.363 NA 14 59 0 0 0 0 EHMT2 10919 broad.mit.edu 37 6 31855970 31855970 + Silent SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:31855970G>C uc003nxz.1 - 13 1603 c.1593C>G c.(1591-1593)GTC>GTG p.V531V EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.V322V|EHMT2_uc011don.1_Silent_p.V554V|EHMT2_uc003nya.1_Silent_p.V497V NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 531 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 GGGGACAGAAGACCATCCCAT 0.642 NA 25 36 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100841664 100841664 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:100841664G>A uc003pqj.3 - 10 1476 c.1269C>T c.(1267-1269)GCC>GCT p.A423A SIM1_uc010kcu.2_Silent_p.A423A NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 423 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CAGGCCTATCGGCGGGGTCCA 0.597 NA 26 36 0 0 0 0 FYN 2534 broad.mit.edu 37 6 112017481 112017481 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:112017481T>A uc003pvj.2 - 9 1381 c.1041A>T c.(1039-1041)AAA>AAT p.K347N FYN_uc003pvi.2_Missense_Mutation_p.K292N|FYN_uc003pvk.2_Missense_Mutation_p.K347N|FYN_uc003pvh.2_Missense_Mutation_p.K344N|FYN_uc010kdy.1_Intron NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 347 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTGCCCAACCTTTGTTCATAT 0.488 NA 37 77 0 0 0 0 MED23 9439 broad.mit.edu 37 6 131917142 131917142 + Silent SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:131917142T>C uc003qcs.1 - 22 3114 c.2940A>G c.(2938-2940)GTA>GTG p.V980V MED23_uc003qcq.2_Silent_p.V986V|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.V621V NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 980 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GTGATTTGGATACCGGAAGCA 0.378 NA 3 123 0 0 0 0 MMD2 221938 broad.mit.edu 37 7 4947088 4947088 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:4947088T>C uc003sno.3 - 7 948 c.752A>G c.(751-753)TAC>TGC p.Y251C MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.Y227C|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 251 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GATGGCATAGTAGTGGGTACC 0.537 NA 11 100 0 0 0 0 WIPF3 644150 broad.mit.edu 37 7 29918639 29918639 + Missense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:29918639A>T uc003taj.1 + 3 238 c.238A>T c.(238-240)AAC>TAC p.N80Y NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 80 ovary(1) 1 TAAAGGAACCAACAAAGAAGG 0.517 NA 4 15 0 0 0 0 TARP 445347 broad.mit.edu 37 7 38299801 38299801 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:38299801G>C uc003tge.1 - 7 1213 c.836C>G c.(835-837)TCT>TGT p.S279C uc003tfx.1_5'Flank|uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.S75C|TARP_uc003tgc.1_Missense_Mutation_p.S75C|TARP_uc003tgd.1_Missense_Mutation_p.S75C A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 GTAATATGCAGAGGTGTTTGT 0.423 NA 9 58 0 0 0 0 ZNF713 349075 broad.mit.edu 37 7 55980391 55980391 + Missense_Mutation SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:55980391A>T uc003trc.1 + 1 61 c.23A>T c.(22-24)GAT>GTT p.D8V ZNF713_uc003tra.1_Missense_Mutation_p.D21V|MRPS17_uc003trb.2_Missense_Mutation_p.D8V NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAAATGAATGATGGCTCACAG 0.408 NA 15 18 0 0 0 0 CLIP2 7461 broad.mit.edu 37 7 73771712 73771712 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:73771712G>A uc003uam.2 + 6 1447 c.1120G>A c.(1120-1122)GAA>AAA p.E374K CLIP2_uc003uan.2_Missense_Mutation_p.E374K NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 374 Potential. microtubule associated complex skin(3) 3 GCTGCTGGCTGAACGAGACCT 0.612 NA 5 17 0 0 0 0 KLHDC10 23008 broad.mit.edu 37 7 129756398 129756398 + Missense_Mutation SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:129756398G>A uc003vpj.1 + 3 502 c.367G>A c.(367-369)GAA>AAA p.E123K KLHDC10_uc003vpk.1_Missense_Mutation_p.E94K|KLHDC10_uc010lmb.1_Intron NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 123 Kelch 1. 0 GCCTGATAATGAAGACTATCC 0.478 NA 17 117 0 0 0 0 MKLN1 4289 broad.mit.edu 37 7 131012684 131012684 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:131012684C>G uc011kpm.1 + 1 90 c.26C>G c.(25-27)GCG>GGG p.A9G MKLN1_uc011kpl.1_Intron|MKLN1_uc010lmh.2_Missense_Mutation_p.A9G|MKLN1_uc003vqs.2_5'UTR|uc003vqr.1_5'Flank NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 9 signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) GCTGTCGCTGCGGCGCCCGAG 0.682 NA 7 27 0 0 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764670 138764670 + Silent SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:138764670G>C uc003vun.2 - 4 1405 c.1017C>G c.(1015-1017)CTC>CTG p.L339L ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L339L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 339 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TTCCATGCAAGAGGTCCTCTT 0.552 NA 24 113 0 0 0 0 JHDM1D 80853 broad.mit.edu 37 7 139833366 139833366 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:139833366T>A uc003vvm.2 - 3 375 c.371A>T c.(370-372)AAG>ATG p.K124M NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 124 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GCGTAATTCCTTAATGAAAGT 0.368 NA 11 63 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141795497 141795497 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:141795497C>T uc003vwy.2 + 41 4957 c.4903C>T c.(4903-4905)CGG>TGG p.R1635W NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1635 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACTGTTGTGCGGCCTCTGCT 0.468 NA 71 159 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147674977 147674977 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:147674977C>T uc003weu.1 + 15 2795 c.2279C>T c.(2278-2280)TCA>TTA p.S760L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 760 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGTTTCTTATCATACAAAGAT 0.473 NA HNSCC(39;0.1) 29 67 0 0 0 0 C8orf22 492307 broad.mit.edu 37 8 49986796 49986796 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:49986796T>C uc003xqq.3 + 4 320 c.137T>C c.(136-138)TTG>TCG p.L46S NM_001007176 NP_001007177 Q8WWR9 PDPFL_HUMAN hypothetical protein LOC492307 46 0 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TTAATAGGGTTGCCTGAAGTG 0.333 NA 6 96 0 0 0 0 RGS20 8601 broad.mit.edu 37 8 54866744 54866744 + Missense_Mutation SNP C C A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:54866744C>A uc003xrp.2 + 5 944 c.852C>A c.(850-852)TTC>TTA p.F284L RGS20_uc003xrq.2_Missense_Mutation_p.F169L|RGS20_uc010lye.2_Missense_Mutation_p.F76L|RGS20_uc010lyf.2_Missense_Mutation_p.F48L|RGS20_uc003xrs.2_Missense_Mutation_p.F137L|RGS20_uc003xrt.2_Missense_Mutation_p.F18L NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 284 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) GAACAGAATTCAGTGAGGAAA 0.413 NA 17 99 2e-07 2.14e-07 1 0 PMP2 5375 broad.mit.edu 37 8 82357103 82357103 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:82357103G>C uc003ycb.1 - 2 293 c.195C>G c.(193-195)TTC>TTG p.F65L PMP2_uc010lzv.1_Intron NM_002677 NP_002668 P02689 MYP2_HUMAN peripheral myelin protein 2 65 cytoplasm cholesterol binding|fatty acid binding|transporter activity 0 Epithelial(68;0.186) GGCCTAGCTTGAAGGAGATTT 0.393 NA 17 101 0 0 0 0 NBN 4683 broad.mit.edu 37 8 90955524 90955524 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:90955524C>T uc003yej.1 - 14 2251 c.2141G>A c.(2140-2142)CGA>CAA p.R714Q NBN_uc003yei.1_Missense_Mutation_p.R632Q|NBN_uc011lgb.1_Missense_Mutation_p.R714Q NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 714 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) TGTATTCTTTCGAGCATGATG 0.398 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 22 167 0 0 0 0 KCNS2 3788 broad.mit.edu 37 8 99441238 99441238 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:99441238C>T uc003yin.2 + 2 1381 c.1031C>T c.(1030-1032)TCC>TTC p.S344F NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 344 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TCCATCTTCTCCGTGGTGGCC 0.582 NA 16 91 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121222028 121222028 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:121222028A>G uc003yox.2 + 12 1620 c.1355A>G c.(1354-1356)TAC>TGC p.Y452C COL14A1_uc003yoy.2_Missense_Mutation_p.Y130C|COL14A1_uc010mde.1_Missense_Mutation_p.Y130C NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 452 Fibronectin type-III 3. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTTCTACTGTACGACGTGACT 0.453 NA 4 124 0 0 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810426 124810426 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:124810426C>G uc003yqv.2 + 16 1569 c.1508C>G c.(1507-1509)TCC>TGC p.S503C FAM91A1_uc011lik.1_Missense_Mutation_p.S503C|FAM91A1_uc011lil.1_Missense_Mutation_p.S261C NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 503 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CTGCTTGTTTCCATGGCTCCC 0.493 NA 15 179 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144992659 144992659 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:144992659T>A uc003zaf.1 - 32 11911 c.11741A>T c.(11740-11742)GAG>GTG p.E3914V PLEC_uc003zab.1_Missense_Mutation_p.E3777V|PLEC_uc003zac.1_Missense_Mutation_p.E3781V|PLEC_uc003zad.2_Missense_Mutation_p.E3777V|PLEC_uc003zae.1_Missense_Mutation_p.E3745V|PLEC_uc003zag.1_Missense_Mutation_p.E3755V|PLEC_uc003zah.2_Missense_Mutation_p.E3763V|PLEC_uc003zaj.2_Missense_Mutation_p.E3804V NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3914 Globular 2.|Plectin 19. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GATGGTCTGCTCGGTGTAGGG 0.682 NA 4 16 0 0 0 0 MPDZ 8777 broad.mit.edu 37 9 13223589 13223589 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:13223589C>T uc010mia.1 - 4 571 c.514G>A c.(514-516)GAG>AAG p.E172K MPDZ_uc010mhy.2_Missense_Mutation_p.E172K|MPDZ_uc010mhz.2_Missense_Mutation_p.E172K|MPDZ_uc011lmn.1_Missense_Mutation_p.E172K|MPDZ_uc003zlb.3_Missense_Mutation_p.E172K NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 172 PDZ 1. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) ACACTGCCCTCTTGTATCTCT 0.448 NA 8 48 0 0 0 0 IFNA8 3445 broad.mit.edu 37 9 21409439 21409439 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:21409439C>G uc003zpc.1 + 1 294 c.264C>G c.(262-264)TTC>TTG p.F88L NM_002170 NP_002161 P32881 IFNA8_HUMAN interferon, alpha 8 precursor 88 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) AGCAGACCTTCAACCTCTTCA 0.473 NA 29 143 0 0 0 0 RG9MTD3 158234 broad.mit.edu 37 9 37776359 37776359 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:37776359G>C uc004aai.2 + 8 878 c.801G>C c.(799-801)CAG>CAC p.Q267H RG9MTD3_uc011lqo.1_Missense_Mutation_p.Q216H|RG9MTD3_uc011lqp.1_Missense_Mutation_p.Q189H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.Q156H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.Q172H NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN RNA (guanine-9-) methyltransferase domain 267 methyltransferase activity 0 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) TCAGAAACCAGAATGGGAAAA 0.448 NA 12 18 0 0 0 0 IARS 3376 broad.mit.edu 37 9 95014160 95014160 + Missense_Mutation SNP T T C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:95014160T>C uc004art.1 - 22 2494 c.2237A>G c.(2236-2238)AAT>AGT p.N746S IARS_uc004ars.1_Missense_Mutation_p.N591S|IARS_uc004aru.3_Missense_Mutation_p.N746S|IARS_uc010mqr.2_Missense_Mutation_p.N636S|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 746 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) CTCCATCCCATTTTCACCCTA 0.328 NA 9 46 0 0 0 0 SUSD1 64420 broad.mit.edu 37 9 114820851 114820851 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:114820851C>T uc004bfu.2 - 14 2007 c.1966G>A c.(1966-1968)GAA>AAA p.E656K SUSD1_uc010mui.2_Missense_Mutation_p.E656K|SUSD1_uc010muj.2_Missense_Mutation_p.E656K NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 656 Extracellular (Potential). integral to membrane calcium ion binding 0 GCCAGTAGTTCTGCAGCCACG 0.483 NA 30 110 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131394439 131394439 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:131394439C>G uc004bvl.3 + 52 6894 c.6781C>G c.(6781-6783)CAG>GAG p.Q2261E SPTAN1_uc004bvm.3_Missense_Mutation_p.Q2266E|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q2241E|SPTAN1_uc004bvo.3_Missense_Mutation_p.Q28E|SPTAN1_uc004bvp.3_Missense_Mutation_p.Q4E NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2261 Spectrin 23. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CATGAGAAGTCAGCTCAAAAA 0.637 NA 6 24 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131395123 131395123 + Missense_Mutation SNP C C G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:131395123C>G uc004bvl.3 + 55 7295 c.7182C>G c.(7180-7182)TTC>TTG p.F2394L SPTAN1_uc004bvm.3_Missense_Mutation_p.F2399L|SPTAN1_uc004bvn.3_Missense_Mutation_p.F2374L|SPTAN1_uc004bvo.3_Missense_Mutation_p.F161L|SPTAN1_uc004bvp.3_Missense_Mutation_p.F137L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2394 EF-hand 2. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ACATGGCTTTCATGATCAGCC 0.597 NA 26 97 0 0 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799178 133799178 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:133799178C>T uc004bzz.2 - 4 1047 c.802G>A c.(802-804)GGC>AGC p.G268S FIBCD1_uc011mcc.1_Missense_Mutation_p.G268S NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 268 Fibrinogen C-terminal.|Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) ACCTGGAAGCCGGCCGGGTAG 0.697 NA 32 32 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413087 139413087 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:139413087T>A uc004chz.2 - 6 1055 c.1055A>T c.(1054-1056)GAC>GTC p.D352V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 352 Extracellular (Potential).|EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCACACGGTCATGGCAGGT 0.647 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 8 8 0 0 0 0 SHROOM2 357 broad.mit.edu 37 X 9862972 9862972 + Missense_Mutation SNP G G C TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:9862972G>C uc004csu.1 + 4 1114 c.1024G>C c.(1024-1026)GAG>CAG p.E342Q NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 342 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) TGTGTTCTCAGAGGCGGCTGC 0.657 NA 6 28 0 0 0 0 MAP3K15 389840 broad.mit.edu 37 X 19398256 19398256 + Silent SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:19398256C>T uc004czk.1 - 20 2633 c.996G>A c.(994-996)CCG>CCA p.P332P MAP3K15_uc004czj.1_Silent_p.P292P NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 857 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) TGGCTGCCTGCGGCTCACCAA 0.448 NA 5 11 0 0 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269432 30269432 + Silent SNP G G A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:30269432G>A uc004dcc.2 + 4 1142 c.822G>A c.(820-822)CCG>CCA p.P274P MAGEB1_uc004dcd.2_Silent_p.P274P|MAGEB1_uc004dce.2_Silent_p.P274P NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 274 MAGE. 0 TATGGGGTCCGAGAGCCTATG 0.502 NA 19 90 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31950313 31950313 + Missense_Mutation SNP A A G TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:31950313A>G uc004dda.1 - 46 6890 c.6646T>C c.(6646-6648)TTT>CTT p.F2216L DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.F872L|DMD_uc004dcx.2_Missense_Mutation_p.F875L|DMD_uc004dcz.2_Missense_Mutation_p.F2093L|DMD_uc004dcy.1_Missense_Mutation_p.F2212L|DMD_uc004ddb.1_Missense_Mutation_p.F2208L|DMD_uc010ngo.1_Missense_Mutation_p.F125L|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2216 Spectrin 16. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTCTTTGAAATTCTGACAAG 0.303 NA 10 36 0 0 0 0 RPGR 6103 broad.mit.edu 37 X 38135929 38135929 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:38135929C>T uc004deb.2 - 16 2170 c.2002G>A c.(2002-2004)GAT>AAT p.D668N RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_000328 NP_000319 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CTTTCATCATCTCCCACAGTT 0.358 NA 20 107 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 40988323 40988323 + Missense_Mutation SNP C C T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:40988323C>T uc004dfb.2 + 3 800 c.167C>T c.(166-168)GCC>GTC p.A56V USP9X_uc004dfc.2_Missense_Mutation_p.A56V NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 56 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CAAGGTGATGCCCCACCACAG 0.443 NA 3 43 0 0 0 0 PORCN 64840 broad.mit.edu 37 X 48370791 48370791 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:48370791T>A uc010nie.1 + 5 609 c.451T>A c.(451-453)TCG>ACG p.S151T PORCN_uc004djr.1_Missense_Mutation_p.S151T|PORCN_uc004djs.1_Missense_Mutation_p.S151T|PORCN_uc004djt.1_Missense_Mutation_p.S80T|PORCN_uc011mlx.1_Missense_Mutation_p.S80T|PORCN_uc004dju.1_Missense_Mutation_p.S20T|PORCN_uc004djv.1_Missense_Mutation_p.S151T|PORCN_uc004djw.1_Missense_Mutation_p.S151T NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 151 Extracellular (Potential). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TACGGTGCCCTCGCCAGTGGA 0.607 NA 4 34 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76944323 76944323 + Silent SNP A A T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:76944323A>T uc004ecp.3 - 7 814 c.582T>A c.(580-582)GTT>GTA p.V194V ATRX_uc004ecq.3_Silent_p.V156V|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.V155V|ATRX_uc010nlx.1_Silent_p.V194V|ATRX_uc010nly.1_Silent_p.V139V NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 194 ADD.|GATA-type; atypical. V -> I (in ATRX).|Missing (in ATRX). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TACAAATAAGAACTTGCAATG 0.249 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 48 94 0 0 0 0 BHLHB9 80823 broad.mit.edu 37 X 102005206 102005206 + Missense_Mutation SNP T T A TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:102005206T>A uc010nog.2 + 4 1854 c.1283T>A c.(1282-1284)ATA>AAA p.I428K BHLHB9_uc011mrq.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrr.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrs.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrt.1_Missense_Mutation_p.I428K|BHLHB9_uc004ejo.2_Missense_Mutation_p.I428K|BHLHB9_uc011mru.1_Missense_Mutation_p.I428K|BHLHB9_uc011mrv.1_Missense_Mutation_p.I428K NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 428 cytoplasm|nucleus binding ovary(2) 2 GGATTAAAGATACTAGGACAA 0.373 NA 49 47 0 0 0 0 HIVEP3 59269 broad.mit.edu 37 1 42048048 42048048 + Frame_Shift_Del DEL C C - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr1:42048048delC uc001cgz.3 - 4 3634 c.2421delG c.(2419-2421)GAGfs p.E807fs HIVEP3_uc001cha.3_Frame_Shift_Del_p.E807fs|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 807 Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AATCAGATTTCTCAAAGGAGC 0.562 NA 61 56 --- --- --- --- NA NA NA NA PAPSS2 9060 broad.mit.edu 37 10 89472945 89472946 + Frame_Shift_Del DEL AG AG - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr10:89472945_89472946delAG uc001kex.2 + 3 522_523 c.259_260delAG c.(259-261)AGAfs p.R87fs PAPSS2_uc001kew.2_Frame_Shift_Del_p.R87fs|PAPSS2_uc009xtg.1_RNA NM_004670 NP_004661 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 87 Adenylyl-sulfate kinase. 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|skin(1) 2 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) TGGCCTTAACAGAAATCTCGGA 0.51 NA 20 114 --- --- --- --- NA NA NA NA DDX11 1663 broad.mit.edu 37 12 31255240 31255241 + Frame_Shift_Ins INS - - T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr12:31255240_31255241insT uc001rjt.1 + 22 2517_2518 c.2266_2267insT c.(2266-2268)ATCfs p.I756fs DDX11_uc001rjr.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjs.1_Frame_Shift_Ins_p.I706fs|DDX11_uc001rju.1_Frame_Shift_Ins_p.I428fs|DDX11_uc001rjv.1_Frame_Shift_Ins_p.I756fs|DDX11_uc001rjw.1_Frame_Shift_Ins_p.I730fs|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 756 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCCAGGTGCATCCAGGTGCGG 0.559 NA Multiple Myeloma(12;0.14) 21 91 --- --- --- --- NA NA NA NA IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr16:55362674_55362676delGAG uc002ehy.2 + 5 1317_1319 c.784_786delGAG c.(784-786)GAGdel p.E268del IRX6_uc002ehx.2_In_Frame_Del_p.E268del NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CCTggaggaagaggaggaggagg 0.493 NA 7 82 --- --- --- --- NA NA NA NA CNOT10 25904 broad.mit.edu 37 3 32758664 32758665 + Frame_Shift_Ins INS - - T TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr3:32758664_32758665insT uc003cfc.1 + 7 934_935 c.679_680insT c.(679-681)ATCfs p.I227fs CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfd.1_Frame_Shift_Ins_p.I226fs|CNOT10_uc003cfe.1_Frame_Shift_Ins_p.I227fs|CNOT10_uc010hfv.1_RNA|CNOT10_uc011axj.1_Frame_Shift_Ins_p.I287fs|CNOT10_uc010hfw.1_5'UTR NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 227 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding central_nervous_system(1)|skin(1) 2 ACGAGCTTATATCCAAATGAAG 0.327 NA 15 72 --- --- --- --- NA NA NA NA POLR1C 9533 broad.mit.edu 37 6 43497022 43497022 + Frame_Shift_Del DEL T T - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr6:43497022delT uc003ovo.1 + 9 1015 c.958delT c.(958-960)TGTfs p.C320fs XPO5_uc003ovp.2_Intron NM_004875 NP_004866 O15160 RPAC1_HUMAN RNA polymerase I subunit isoform 2 Error:Variant_position_missing_in_O15160_after_alignment termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) ggctcacacctgtaatcccag 0.129 NA 9 26 --- --- --- --- NA NA NA NA PODXL 5420 broad.mit.edu 37 7 131189187 131189191 + Frame_Shift_Del DEL AGAAG AGAAG - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr7:131189187_131189191delAGAAG uc003vqw.3 - 9 1814_1818 c.1556_1560delCTTCT c.(1555-1560)TCTTCTfs p.S519fs PODXL_uc003vqx.3_Frame_Shift_Del_p.S487fs NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 519_520 Cytoplasmic (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) CCTGCATCTCAGAAGAGGTCTCCAT 0.576 NA 49 179 --- --- --- --- NA NA NA NA PLAG1 5324 broad.mit.edu 37 8 57080731 57080731 + Frame_Shift_Del DEL T T - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr8:57080731delT uc003xsq.3 - 2 549 c.98delA c.(97-99)AACfs p.N33fs PLAG1_uc003xsr.3_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyi.2_Frame_Shift_Del_p.N33fs|PLAG1_uc010lyj.2_Intron NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 33 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GCAAGGAAAGTTTTTTCTTGG 0.453 NA T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 17 95 --- --- --- --- NA NA NA NA ZNF618 114991 broad.mit.edu 37 9 116811467 116811476 + Frame_Shift_Del DEL GCCGGCATGT GCCGGCATGT - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chr9:116811467_116811476delGCCGGCATGT uc004bid.2 + 15 1984_1993 c.1885_1894delGCCGGCATGT c.(1885-1896)GCCGGCATGTGCfs p.A629fs ZNF618_uc004bic.2_Frame_Shift_Del_p.A536fs|ZNF618_uc011lxi.1_Frame_Shift_Del_p.A596fs|ZNF618_uc011lxj.1_Frame_Shift_Del_p.A597fs|ZNF618_uc010mvb.2_Frame_Shift_Del_p.A219fs NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 629_632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCTCCAAGGCCGGCATGTGCCTTCGCTG 0.624 NA 8 112 --- --- --- --- NA NA NA NA DGKK 139189 broad.mit.edu 37 X 50213559 50213570 + In_Frame_Del DEL GGCGGAGCCGGT GGCGGAGCCGGT - TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:50213559_50213570delGGCGGAGCCGGT uc010njr.1 - 1 168_179 c.108_119delACCGGCTCCGCC c.(106-120)CCACCGGCTCCGCCG>CCG p.36_40PPAPP>P NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 36_40 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) cggagccggcggcggagccggtggtggtggcg 0.462 NA 9 26 --- --- --- --- NA NA NA NA HUWE1 10075 broad.mit.edu 37 X 53563587 53563589 + In_Frame_Del DEL CCA CCA - rs426298 byFrequency TCGA-DQ-5625-01A-01D-1870-08 TCGA-DQ-5625-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4e042e1d-8604-484a-b229-94b85745a478 eca3d25f-f215-420e-b040-ade10a9cee53 g.chrX:53563587_53563589delCCA uc004dsp.2 - 79 12579_12581 c.12177_12179delTGG c.(12175-12180)GGTGGG>GGG p.4059_4060GG>G HUWE1_uc004dsn.2_In_Frame_Del_p.2867_2868GG>G NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4059_4060 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCGCAGGAGCCCACCAGCATCCT 0.473 NA 14 58 --- --- --- --- NA NA NA NA