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 MRPS15 64960 broad.mit.edu 37 1 36926866 36926866 + Missense_Mutation SNP T T C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:36926866T>C uc001cas.2 - 4 463 c.299A>G c.(298-300)AAG>AGG p.K100R NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 100 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCTGCTCACCTTGTTGGCCAT 0.393 NA 17 32 0 0 0 0 EPHA10 284656 broad.mit.edu 37 1 38187398 38187398 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:38187398C>T uc009vvi.2 - 11 2166 c.2080G>A c.(2080-2082)GAG>AAG p.E694K EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 694 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTGAGGGCCTCGGCCAGGAAG 0.672 NA 5 24 0 0 0 0 RRAGC 64121 broad.mit.edu 37 1 39317431 39317431 + Splice_Site SNP T T C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:39317431T>C uc001ccq.2 - 5 779 c.757_splice c.e5-1 p.N253_splice RRAGC_uc010oim.1_Splice_Site_p.N219_splice|RRAGC_uc001ccr.2_Splice_Site_p.N175_splice NM_022157 NP_071440 Q9HB90 RRAGC_HUMAN Ras-related GTP binding C apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent lysosome|nucleus GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) ACCTGAATTCTTGGAAAAACA 0.323 NA 16 66 0 0 0 0 TMEM48 55706 broad.mit.edu 37 1 54269617 54269617 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:54269617G>C uc001cvs.2 - 10 1291 c.1050C>G c.(1048-1050)TTC>TTG p.F350L TMEM48_uc010onu.1_Missense_Mutation_p.F310L|TMEM48_uc001cvt.2_Missense_Mutation_p.F227L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.F15L NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 350 Cytoplasmic (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 GGCTGAGGCTGAAAACTTCTT 0.308 NA 36 185 0 0 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510198 77510198 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:77510198C>T uc001dhi.2 + 3 746 c.571C>T c.(571-573)CTC>TTC p.L191F ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 191 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 CAACCTGCATCTCCTGAGCCA 0.587 NA 27 187 0 0 0 0 CCDC18 343099 broad.mit.edu 37 1 93691976 93691976 + Missense_Mutation SNP T T G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:93691976T>G uc001dpq.2 + 17 2784 c.2616T>G c.(2614-2616)TTT>TTG p.F872L CCDC18_uc009wdl.1_Missense_Mutation_p.F389L NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 753 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) AGGAAAAGTTTGAAAAACAGT 0.294 NA 5 51 0 0 0 0 FCRLA 84824 broad.mit.edu 37 1 161681071 161681071 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:161681071G>C uc001gbe.2 + 4 617 c.375G>C c.(373-375)TGG>TGC p.W125C FCRLA_uc001gbd.2_Missense_Mutation_p.W119C|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 102 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GCCAGGCCTGGCAAGACTGGC 0.577 NA 6 49 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198713307 198713307 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:198713307C>T uc001gur.1 + 26 2996 c.2816C>T c.(2815-2817)CCG>CTG p.P939L PTPRC_uc001gus.1_Missense_Mutation_p.P891L|PTPRC_uc001gut.1_Missense_Mutation_p.P778L NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 939 Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 CCCAGTGAGCCGTCTCCACTA 0.294 NA 5 31 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240601464 240601464 + Missense_Mutation SNP T T A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:240601464T>A uc010pyd.1 + 16 5239 c.5014T>A c.(5014-5016)TTT>ATT p.F1672I FMN2_uc010pye.1_Missense_Mutation_p.F1676I|FMN2_uc010pyg.1_Missense_Mutation_p.F268I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1672 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CAGCTCTGACTTTAAAGACTT 0.383 NA 15 117 0 0 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129300 248129300 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr1:248129300C>G uc010pzd.1 + 1 667 c.667C>G c.(667-669)CTA>GTA p.L223V OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TATTATCTTGCTACTACCATT 0.448 NA 9 18 0 0 0 0 SPAG6 9576 broad.mit.edu 37 10 22690177 22690177 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr10:22690177C>G uc001iri.2 + 9 1427 c.1285C>G c.(1285-1287)CTG>GTG p.L429V SPAG6_uc001irj.2_Missense_Mutation_p.L429V|SPAG6_uc010qct.1_Missense_Mutation_p.L399V|SPAG6_uc009xkh.2_Missense_Mutation_p.L407V NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 429 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 TCCCAATATTCTGAAACATGT 0.348 NA 8 26 0 0 0 0 OPN4 94233 broad.mit.edu 37 10 88425489 88425489 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr10:88425489G>T uc001kdq.2 + 10 1645 c.1418G>T c.(1417-1419)AGC>ATC p.S473I LDB3_uc010qml.1_5'Flank|LDB3_uc010qmm.1_5'Flank|LDB3_uc001kdu.2_5'Flank|LDB3_uc001kdv.2_5'Flank|LDB3_uc009xsz.2_5'Flank|OPN4_uc001kdp.2_Missense_Mutation_p.S484I|OPN4_uc010qmk.1_Intron|LDB3_uc001kdr.2_5'Flank|LDB3_uc009xsy.2_5'Flank|LDB3_uc001kds.2_5'Flank|LDB3_uc001kdt.2_5'Flank NM_033282 NP_150598 Q9UHM6 OPN4_HUMAN opsin 4 isoform 1 473 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity ovary(1) 1 CTGATCCCCAGCCAGGACCCC 0.577 NA 23 54 1.11e-09 1.32e-09 1 0 COX15 1355 broad.mit.edu 37 10 101474430 101474430 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr10:101474430G>C uc001kqb.3 - 9 1764 c.1147C>G c.(1147-1149)CTG>GTG p.L383V COX15_uc001kqc.3_Intron|COX15_uc010qpj.1_Missense_Mutation_p.L204V NM_078470 NP_510870 Q7KZN9 COX15_HUMAN COX15 homolog isoform 1 383 Helical; (Potential). heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) GTGGCGGCCAGAGGAGTTGGG 0.507 NA 12 84 0 0 0 0 SEC31B 25956 broad.mit.edu 37 10 102247522 102247522 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr10:102247522C>T uc001krc.1 - 26 3493 c.3391G>A c.(3391-3393)GAG>AAG p.E1131K SEC31B_uc010qpo.1_Missense_Mutation_p.E1130K|SEC31B_uc001krd.1_Missense_Mutation_p.E668K|SEC31B_uc001krf.1_Missense_Mutation_p.E564K|SEC31B_uc001kre.1_Missense_Mutation_p.E562K NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 1131 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CGGGCAACCTCATGGAGCCCA 0.587 NA 4 31 0 0 0 0 OR8H1 219469 broad.mit.edu 37 11 56057964 56057964 + Missense_Mutation SNP T T C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr11:56057964T>C uc010rje.1 - 1 575 c.575A>G c.(574-576)TAC>TGC p.Y192C NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) TTCAATGTCGTATGTGTCCAT 0.443 NA 14 71 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49438545 49438545 + Nonsense_Mutation SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:49438545C>A uc001rta.3 - 19 4945 c.4945G>T c.(4945-4947)GAG>TAG p.E1649* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1649 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TTGAGCAGCTCATCGGTGTCC 0.607 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 17 50 9.77e-05 0.000107738 1 0 TRHDE 29953 broad.mit.edu 37 12 72666978 72666978 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:72666978C>T uc001sxa.2 + 1 450 c.420C>T c.(418-420)CGC>CGT p.R140R LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 140 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CGCAGCTGCGCCTGTCGGGCC 0.697 NA 5 25 0 0 0 0 CUX2 23316 broad.mit.edu 37 12 111758444 111758444 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:111758444G>A uc001tsa.1 + 17 2784 c.2631G>A c.(2629-2631)AAG>AAA p.K877K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 877 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCACCCTGAAGCCCACCGTGC 0.701 NA 4 12 0 0 0 0 TRAFD1 10906 broad.mit.edu 37 12 112578685 112578685 + Silent SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:112578685C>G uc001ttp.2 + 5 386 c.300C>G c.(298-300)CTC>CTG p.L100L TRAFD1_uc001tto.2_Silent_p.L100L|TRAFD1_uc009zwb.2_Silent_p.L100L|TRAFD1_uc010syj.1_RNA NM_006700 NP_006691 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 100 TRAF-type. negative regulation of innate immune response intracellular protein binding|zinc ion binding 0 TTTCCATTCTCAAACTGAAGG 0.463 NA 22 73 0 0 0 0 P2RX7 5027 broad.mit.edu 37 12 121605311 121605311 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:121605311G>A uc001tzm.2 + 8 861 c.765G>A c.(763-765)GAG>GAA p.E255E P2RX7_uc001tzn.2_Silent_p.E165E|P2RX7_uc001tzo.2_Intron|P2RX7_uc001tzp.2_Intron|P2RX7_uc001tzq.2_Silent_p.E85E NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 255 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGGCATTGAGATCTACTGGG 0.537 NA 16 80 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124268604 124268604 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:124268604C>T uc001uft.3 + 8 952 c.927C>T c.(925-927)ATC>ATT p.I309I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 309 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGATGTGATCAAGGAATCCG 0.463 NA 28 41 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124285882 124285882 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:124285882G>A uc001uft.3 + 15 2188 c.2163G>A c.(2161-2163)ACG>ACA p.T721T DNAH10_uc010tav.1_Silent_p.T263T|DNAH10_uc010taw.1_Silent_p.T206T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 721 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCATAGGAACGTTAAACGATG 0.463 NA 69 164 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827639 130827639 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr12:130827639G>A uc001uik.2 + 3 273 c.183G>A c.(181-183)AAG>AAA p.K61K PIWIL1_uc001uij.1_Silent_p.K61K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 61 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAACAGCCAAGTCACAAGGTG 0.438 NA 9 14 0 0 0 0 ARL11 115761 broad.mit.edu 37 13 50204602 50204602 + Missense_Mutation SNP A A G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr13:50204602A>G uc001vdf.1 + 2 165 c.19A>G c.(19-21)AGA>GGA p.R7G NM_138450 NP_612459 Q969Q4 ARL11_HUMAN ADP-ribosylation factor-like 11 7 small GTPase mediated signal transduction intracellular GTP binding|protein binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) TGTGAATTCCAGAGGTCACAA 0.557 NA 13 106 0 0 0 0 LIG4 3981 broad.mit.edu 37 13 108861732 108861732 + Nonsense_Mutation SNP T T A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr13:108861732T>A uc001vqn.2 - 2 2158 c.1885A>T c.(1885-1887)AAA>TAA p.K629* LIG4_uc001vqo.2_Nonsense_Mutation_p.K629*|LIG4_uc010agg.1_Nonsense_Mutation_p.K562*|LIG4_uc010agf.2_Nonsense_Mutation_p.K629*|LIG4_uc001vqp.2_Nonsense_Mutation_p.K629* NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 629 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GGGGCAGCTTTCCGCTTTTTT 0.383 NA NHEJ 22 51 0 0 0 0 COL4A1 1282 broad.mit.edu 37 13 110829000 110829000 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr13:110829000C>G uc001vqw.3 - 35 3063 c.2941G>C c.(2941-2943)GGG>CGG p.G981R COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 981 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGCCTGCCCGTCCTTTCCA 0.577 NA 15 43 0 0 0 0 KIAA0247 9766 broad.mit.edu 37 14 70175519 70175519 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr14:70175519G>C uc001xlk.2 + 5 900 c.584G>C c.(583-585)AGA>ACA p.R195T KIAA0247_uc010aqz.2_Missense_Mutation_p.R170T NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 195 Cytoplasmic (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) GCTGACCCCAGAGTACAGATT 0.592 NA 18 89 0 0 0 0 C14orf79 122616 broad.mit.edu 37 14 105457937 105457937 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr14:105457937G>A uc001ypy.1 + 3 832 c.679G>A c.(679-681)GGA>AGA p.G227R C14orf79_uc001ypz.1_RNA|C14orf79_uc010tym.1_RNA NM_174891 NP_777551 Q96F83 CN079_HUMAN hypothetical protein LOC122616 227 0 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TCTTGTTCTCGGAATAGATGC 0.562 NA 42 70 0 0 0 0 APBA2 321 broad.mit.edu 37 15 29390768 29390768 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:29390768G>T uc001zck.2 + 8 1534 c.1327G>T c.(1327-1329)GCA>TCA p.A443S APBA2_uc010azj.2_Missense_Mutation_p.A431S|APBA2_uc010uat.1_Missense_Mutation_p.A431S|APBA2_uc001zcl.2_Missense_Mutation_p.A431S|APBA2_uc001zcm.1_Missense_Mutation_p.A135S NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 443 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGTTTTAAATGCAGACACGCA 0.468 NA 7 50 0.00198382 0.00209747 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32921801 32921801 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:32921801C>T uc001zgy.1 + 8 1665 c.943C>T c.(943-945)CTA>TTA p.L315L ARHGAP11A_uc010ubw.1_Silent_p.L126L|ARHGAP11A_uc001zgw.2_Silent_p.L315L|ARHGAP11A_uc001zgx.2_Silent_p.L315L|ARHGAP11A_uc010ubx.1_Silent_p.L126L NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 315 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TTCAGCCCAGCTATCTGAATC 0.343 NA 9 84 0 0 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42439928 42439928 + Silent SNP A A C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:42439928A>C uc001zoz.2 - 12 1155 c.1092T>G c.(1090-1092)GGT>GGG p.G364G PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 364 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CTCGGGTTCCACCCCCGGAAC 0.522 NA 11 56 0 0 0 0 UBL7 84993 broad.mit.edu 37 15 74738533 74738533 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:74738533G>A uc002axw.1 - 11 1203 c.1041C>T c.(1039-1041)GAC>GAT p.D347D UBL7_uc002axx.1_Silent_p.D387D|UBL7_uc010bjr.1_Silent_p.D238D|UBL7_uc002axy.1_Silent_p.D347D|UBL7_uc002axz.1_Silent_p.D347D NM_032907 NP_116296 Q96S82 UBL7_HUMAN ubiquitin-like 7 347 UBA. protein binding ovary(1) 1 GGATGCCCATGTCACGTAGCT 0.602 NA 17 89 0 0 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164982 85164982 + Missense_Mutation SNP T T C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:85164982T>C uc002bkr.2 + 3 1782 c.1556T>C c.(1555-1557)GTG>GCG p.V519A ZSCAN2_uc010bmz.1_Missense_Mutation_p.V517A|ZSCAN2_uc010bna.2_Missense_Mutation_p.V369A|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 519 C2H2-type 11. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CAGCTCGTAGTGCACCAGCGG 0.592 NA 30 147 0 0 0 0 KLHL25 64410 broad.mit.edu 37 15 86312285 86312285 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr15:86312285C>T uc002bly.2 - 2 960 c.757G>A c.(757-759)GAG>AAG p.E253K NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 253 cytoplasm ovary(2) 2 AGGAGGGCCTCGCTGGAGACG 0.657 NA 8 23 0 0 0 0 TMEM8A 58986 broad.mit.edu 37 16 426289 426289 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr16:426289C>T uc002cgu.3 - 6 1200 c.1071G>A c.(1069-1071)ACG>ACA p.T357T TMEM8A_uc002cgv.3_Silent_p.T164T NM_021259 NP_067082 Q9HCN3 TMM8A_HUMAN transmembrane protein 8 (five membrane-spanning 357 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(2)|pancreas(1) 3 TGTCCTCCCGCGTGACTGGGT 0.672 NA 31 74 0 0 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857175 9857175 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr16:9857175G>A uc002czo.3 - 13 4774 c.4226C>T c.(4225-4227)GCA>GTA p.A1409V GRIN2A_uc010uym.1_Missense_Mutation_p.A1409V|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1409 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ACAGTACGATGCCGTTGACCT 0.502 NA 19 41 0 0 0 0 CNGB1 1258 broad.mit.edu 37 16 57994804 57994804 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr16:57994804C>T uc002emt.2 - 8 539 c.474G>A c.(472-474)CTG>CTA p.L158L CNGB1_uc010cdh.2_Silent_p.L158L|CNGB1_uc002emu.2_Silent_p.L158L NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 158 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 GCCACAGAAGCAGCCGCAGCC 0.622 NA 3 22 0 0 0 0 DPEP3 64180 broad.mit.edu 37 16 68011733 68011733 + Splice_Site SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr16:68011733C>G uc002evc.3 - 6 926 c.832_splice c.e6-1 p.K278_splice DPEP3_uc010cex.2_Splice_Site_p.K278_splice NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CTACTACTTTCTGCAGAAACA 0.498 NA 3 24 0 0 0 0 HYDIN 54768 broad.mit.edu 37 16 70926425 70926425 + Missense_Mutation SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr16:70926425C>A uc002ezr.2 - 56 9381 c.9253G>T c.(9253-9255)GTG>TTG p.V3085L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3086 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ACAGAGTCCACGGAAAAGCTG 0.453 NA 9 53 7.48e-07 8.53e-07 1 0 ITGAE 3682 broad.mit.edu 37 17 3661071 3661071 + Missense_Mutation SNP C C G rs143543471 TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:3661071C>G uc002fwo.3 - 9 1048 c.949G>C c.(949-951)GAG>CAG p.E317Q NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 317 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGGGGGTCCTCGAATATGCCA 0.562 NA 33 239 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:7577498C>T uc002gim.2 - 7 976 c.782_splice c.e7+1 p.S261_splice TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(25)|p.0?(7)|p.E258fs*71(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGCTCCTGACCTGGAGTCTT 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 30 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:7577539G>A uc002gim.2 - 7 936 c.742C>T c.(742-744)CGG>TGG p.R248W TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGGCCTCCGGTTCATGCCG 0.577 R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 44 0 0 0 0 ABCA6 23460 broad.mit.edu 37 17 67092867 67092867 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:67092867C>T uc002jhw.1 - 24 3371 c.3196G>A c.(3196-3198)GTC>ATC p.V1066I NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1066 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AAGAAGCTGACGTCCACTAGT 0.353 NA 6 19 0 0 0 0 OTOP2 92736 broad.mit.edu 37 17 72927021 72927021 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:72927021G>T uc010wrp.1 + 7 1380 c.1291G>T c.(1291-1293)GGG>TGG p.G431W NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 431 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) AGGACCGCCCGGGGCTGAGCC 0.622 NA 7 97 1.07e-07 1.24e-07 1 0 QRICH2 84074 broad.mit.edu 37 17 74287585 74287585 + Nonsense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr17:74287585G>A uc002jrd.1 - 4 2905 c.2725C>T c.(2725-2727)CAA>TAA p.Q909* QRICH2_uc010wsz.1_Nonsense_Mutation_p.Q835*|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 909 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 ACATGCTGTTGATCTGGGTGT 0.512 NA 14 122 0 0 0 0 CEP76 79959 broad.mit.edu 37 18 12697408 12697408 + Splice_Site SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr18:12697408C>T uc002kri.2 - 5 677 c.521_splice c.e5-1 p.G174_splice PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Splice_Site|CEP76_uc010wzz.1_Splice_Site_p.S99_splice|CEP76_uc010xaa.1_Splice_Site NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 GTTCCATCACCTAGCAATATA 0.299 NA 18 52 0 0 0 0 PRKACA 5566 broad.mit.edu 37 19 14211687 14211687 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:14211687C>T uc002myc.2 - 5 570 c.370G>A c.(370-372)GTG>ATG p.V124M PRKACA_uc002myb.2_Missense_Mutation_p.V116M|PRKACA_uc010xnm.1_Missense_Mutation_p.V66M|PRKACA_uc002myd.2_Missense_Mutation_p.V66M NM_002730 NP_002721 P17612 KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit 124 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding lung(1) 1 CCGCCGGGCACGTACTCCATG 0.602 NA 11 52 0 0 0 0 IL12RB1 3594 broad.mit.edu 37 19 18194250 18194250 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:18194250G>A uc002nhw.1 - 2 180 c.116C>T c.(115-117)GCA>GTA p.A39V IL12RB1_uc010xqb.1_Missense_Mutation_p.A39V|IL12RB1_uc002nhx.1_Missense_Mutation_p.A79V|IL12RB1_uc002nhy.2_Missense_Mutation_p.A39V NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 39 Extracellular (Potential). cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 ACCTGAGTCTGCATCCGGATA 0.567 NA 4 107 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728189 20728189 + Missense_Mutation SNP T T G rs57947174 by1000genomes TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:20728189T>G uc002npa.2 - 4 1000 c.820A>C c.(820-822)ACA>CCA p.T274P NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 274 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 ATCTTATGTGTAGTAAGGTTA 0.398 NA 4 19 0 0 0 0 RYR1 6261 broad.mit.edu 37 19 39010003 39010003 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:39010003G>T uc002oit.2 + 67 10298 c.10168G>T c.(10168-10170)GGC>TGC p.G3390C RYR1_uc002oiu.2_Missense_Mutation_p.G3390C|RYR1_uc002oiv.1_Missense_Mutation_p.G310C|RYR1_uc010xuf.1_Missense_Mutation_p.G310C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3390 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) GGCCCAGGAGGGCGAGCTGCT 0.662 NA 6 20 0.00116845 0.00124839 1 0 HNRNPUL1 11100 broad.mit.edu 37 19 41782195 41782195 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:41782195G>A uc002oqb.3 + 5 1067 c.778G>A c.(778-780)GAG>AAG p.E260K CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.E160K|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E260K|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.E217K|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.E160K|HNRNPUL1_uc010eho.2_Missense_Mutation_p.E160K|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.E116K|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.E160K NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 260 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 TGTATGCTTCGAGATGAAGGT 0.532 NA 12 88 0 0 0 0 PPFIA3 8541 broad.mit.edu 37 19 49631304 49631304 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr19:49631304G>A uc002pmr.2 + 2 506 c.174G>A c.(172-174)CTG>CTA p.L58L PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 58 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CAGCGCAGCTGCGGCTGCGCG 0.726 NA 10 13 0 0 0 0 NCOA1 8648 broad.mit.edu 37 2 24929930 24929930 + Silent SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr2:24929930C>A uc002rfk.2 + 11 1849 c.1591C>A c.(1591-1593)CGA>AGA p.R531R NCOA1_uc010eye.2_Silent_p.R531R|NCOA1_uc002rfi.2_Silent_p.R380R|NCOA1_uc002rfj.2_Silent_p.R531R|NCOA1_uc002rfl.2_Silent_p.R531R NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 531 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATAATAACCGATCTTATTC 0.443 NA T PAX3 alveolar rhadomyosarcoma 16 83 2.23e-06 2.5e-06 1 0 SPTBN1 6711 broad.mit.edu 37 2 54849492 54849492 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr2:54849492C>T uc002rxu.2 + 9 1181 c.932C>T c.(931-933)GCC>GTC p.A311V SPTBN1_uc002rxv.1_Missense_Mutation_p.A311V|SPTBN1_uc002rxx.2_Missense_Mutation_p.A298V NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 311 Spectrin 1. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GAATCACTTGCCTCTGACCTT 0.398 NA 10 91 0 0 0 0 RANBP2 5903 broad.mit.edu 37 2 109383270 109383270 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr2:109383270C>T uc002tem.3 + 20 6401 c.6275C>T c.(6274-6276)ACG>ATG p.T2092M NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2092 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATAACGACTACGATGAACCTG 0.413 NA 62 360 0 0 0 0 OVOL2 58495 broad.mit.edu 37 20 18022341 18022341 + Silent SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr20:18022341C>A uc002wqi.1 - 3 591 c.348G>T c.(346-348)TCG>TCT p.S116S NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN zinc finger protein 339 116 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 TGTGAACCACCGAGTCGCTGC 0.612 NA 10 28 0.000673444 0.000727176 1 0 LSS 4047 broad.mit.edu 37 21 47635094 47635094 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr21:47635094C>T uc002zij.2 - 9 1090 c.1011G>A c.(1009-1011)CCG>CCA p.P337P LSS_uc011afv.1_Silent_p.P326P|LSS_uc002zil.2_Silent_p.P337P|LSS_uc002zik.2_Silent_p.P257P NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 337 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) GGGCACTGACCGGGCCGATGC 0.642 NA 7 67 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47863774 47863774 + Missense_Mutation SNP C C G rs138097697 TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr21:47863774C>G uc002zji.3 + 45 9859 c.9752C>G c.(9751-9753)CCA>CGA p.P3251R PCNT_uc002zjj.2_Missense_Mutation_p.P3054R NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 3251 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GAGTCCCCCCCAACCCGGGAT 0.592 NA 40 73 0 0 0 0 RFPL3 10738 broad.mit.edu 37 22 32756682 32756682 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr22:32756682G>A uc003amj.2 + 2 1022 c.817G>A c.(817-819)GTC>ATC p.V273I RFPL3_uc010gwn.2_Missense_Mutation_p.V244I|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 273 B30.2/SPRY. zinc ion binding ovary(1) 1 ATTCAGGAGCGTCTCTGCTGA 0.483 NA 14 47 0 0 0 0 ZNF80 7634 broad.mit.edu 37 3 113955725 113955725 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr3:113955725C>T uc010hqo.2 - 1 701 c.197G>A c.(196-198)CGA>CAA p.R66Q ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 66 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) CTGCTGATGTCGAACAAGGAG 0.488 NA 4 30 0 0 0 0 PLXND1 23129 broad.mit.edu 37 3 129278515 129278515 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr3:129278515C>T uc003emx.2 - 32 5345 c.5245G>A c.(5245-5247)GAG>AAG p.E1749K PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.E417K NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1749 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CCCCTCTTCTCAGCCTGCTCC 0.582 NA 41 133 0 0 0 0 LAMP3 27074 broad.mit.edu 37 3 182841888 182841888 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr3:182841888G>C uc003flh.3 - 6 1456 c.1232C>G c.(1231-1233)TCT>TGT p.S411C NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 411 Cytoplasmic (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CTGGTATCCAGATGATTGACA 0.453 NA 34 62 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194063384 194063384 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr3:194063384G>A uc003fts.2 - 2 138 c.48C>T c.(46-48)GCC>GCT p.A16A NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 16 protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGGCAGGCCTGGCCAGGAGCA 0.592 NA 6 68 0 0 0 0 SLC26A1 10861 broad.mit.edu 37 4 982693 982693 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr4:982693G>A uc003gcb.2 - 4 2412 c.2034C>T c.(2032-2034)CTC>CTT p.L678L SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.L678L NM_213613 NP_998778 Q9H2B4 S26A1_HUMAN solute carrier family 26, member 1 isoform a 678 STAS. integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGTGCACACTGAGGAACAGCT 0.672 NA 4 15 0 0 0 0 RGS12 6002 broad.mit.edu 37 4 3432594 3432594 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr4:3432594G>A uc003ggw.2 + 17 4930 c.4026G>A c.(4024-4026)CTG>CTA p.L1342L RGS12_uc003ggv.2_Silent_p.L1342L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Silent_p.L694L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Silent_p.L684L|RGS12_uc010icv.2_Silent_p.L541L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1342 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCTGACCCTGATGGGGGAGG 0.672 NA 7 56 0 0 0 0 LIN54 132660 broad.mit.edu 37 4 83891502 83891502 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr4:83891502G>A uc003hnx.3 - 4 1307 c.929C>T c.(928-930)TCA>TTA p.S310L LIN54_uc003hnz.3_Missense_Mutation_p.S89L|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.S89L NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 310 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) TTTCAAAGGTGAGATGGCTAT 0.333 NA 16 97 0 0 0 0 NFKB1 4790 broad.mit.edu 37 4 103527776 103527776 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr4:103527776G>A uc011ceq.1 + 17 2340 c.1873G>A c.(1873-1875)GAA>AAA p.E625K NFKB1_uc011cep.1_Missense_Mutation_p.E626K|NFKB1_uc011cer.1_Missense_Mutation_p.E445K NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 625 Interaction with CFLAR.|ANK 3. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) AGCTGCCAAAGAAGGACATGA 0.502 NA 11 72 0 0 0 0 FAM149A 25854 broad.mit.edu 37 4 187088346 187088346 + Silent SNP G G T rs150961217 TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr4:187088346G>T uc003iyt.3 + 13 1884 c.1305G>T c.(1303-1305)ACG>ACT p.T435T FAM149A_uc011cla.1_Silent_p.T435T|FAM149A_uc003iyu.3_Silent_p.T435T|FAM149A_uc010isl.2_Silent_p.T435T|FAM149A_uc011clb.1_Silent_p.T434T NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 726 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) AGTCGGATACGCCTCGAAAAA 0.368 NA 21 110 7.42e-09 8.76e-09 1 0 C5orf35 133383 broad.mit.edu 37 5 56212663 56212663 + Silent SNP T T G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr5:56212663T>G uc003jqx.2 + 6 1207 c.834T>G c.(832-834)CTT>CTG p.L278L C5orf35_uc003jqy.2_RNA NM_153706 NP_714917 Q8NE22 CE035_HUMAN hypothetical protein LOC133383 278 ovary(1) 1 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173) OV - Ovarian serous cystadenocarcinoma(10;2.58e-39) GTGTTGTTCTTGTCGCACTTA 0.333 NA 13 25 0 0 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59982801 59982801 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr5:59982801C>G uc003jsh.2 - 2 375 c.302G>C c.(301-303)CGT>CCT p.R101P DEPDC1B_uc011cqm.1_Missense_Mutation_p.R101P|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R74P NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 101 DEP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) GTATAAGTGACGATTGTCTTC 0.428 NA 27 224 0 0 0 0 RAD17 5884 broad.mit.edu 37 5 68680680 68680680 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr5:68680680C>T uc003jwo.2 + 5 660 c.598C>T c.(598-600)CTA>TTA p.L200L RAD17_uc003jwg.2_Silent_p.L189L|RAD17_uc003jwh.2_Silent_p.L189L|RAD17_uc003jwi.2_Silent_p.L189L|RAD17_uc003jwj.2_Silent_p.L189L|RAD17_uc003jwk.2_Silent_p.L189L|RAD17_uc003jwl.2_Silent_p.L189L|RAD17_uc003jwm.2_Silent_p.L24L|RAD17_uc003jwn.2_Silent_p.L103L NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 200 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CAAAGAGTTTCTACTAAGAGC 0.323 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 10 43 0 0 0 0 PBX2 5089 broad.mit.edu 37 6 32154198 32154198 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:32154198C>T uc003oav.1 - 9 1525 c.1254G>A c.(1252-1254)ACG>ACA p.T418T AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 418 transcription factor binding ovary(1) 1 CTGGTCCCTCCGTTGGGGATG 0.572 NA 3 32 0 0 0 0 BTNL2 56244 broad.mit.edu 37 6 32363864 32363864 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:32363864C>G uc003obg.1 - 5 1030 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q BTNL2_uc010jty.1_Missense_Mutation_p.E67Q|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.E134Q NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 344 Extracellular (Potential).|Ig-like V-type 3. integral to membrane central_nervous_system(1) 1 TCATCTTTTTCAAAAAGGCAG 0.483 NA 7 79 0 0 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283477 33283477 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:33283477G>A uc003oeb.2 - 2 1369 c.1217C>T c.(1216-1218)TCC>TTC p.S406F TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S406F NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 406 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGGGGCATAGGAAGAGGGAGT 0.592 NA 33 212 0 0 0 0 SCUBE3 222663 broad.mit.edu 37 6 35213722 35213722 + Silent SNP A A G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:35213722A>G uc003okf.1 + 20 2607 c.2601A>G c.(2599-2601)TCA>TCG p.S867S SCUBE3_uc003okg.1_Silent_p.S866S|SCUBE3_uc003okh.1_Silent_p.S754S NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 867 CUB. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CCTTCCCAGCATCCCCATCCT 0.572 NA 87 208 0 0 0 0 KIF6 221458 broad.mit.edu 37 6 39387750 39387750 + Missense_Mutation SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:39387750C>G uc003oot.2 - 15 1879 c.1784G>C c.(1783-1785)AGT>ACT p.S595T KIF6_uc003oos.2_Missense_Mutation_p.S46T|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S386T|KIF6_uc011dua.1_Missense_Mutation_p.S595T|KIF6_uc010jxb.1_Missense_Mutation_p.S539T NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 595 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 TTCATTTATACTTTCTCCCAG 0.358 NA 11 89 0 0 0 0 EFHC1 114327 broad.mit.edu 37 6 52303383 52303383 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:52303383C>T uc003pap.3 + 3 782 c.567C>T c.(565-567)TTC>TTT p.F189F EFHC1_uc011dwv.1_Silent_p.F98F|EFHC1_uc011dww.1_Silent_p.F170F NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 189 DM10 1. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) GTGACCAATTCACACAGGTAT 0.383 NA 8 86 0 0 0 0 ZNF292 23036 broad.mit.edu 37 6 87968682 87968682 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:87968682G>T uc003plm.3 + 8 5376 c.5335G>T c.(5335-5337)GGT>TGT p.G1779C NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 1779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGGATCTCAGGGTGCTGGTGA 0.323 NA 5 22 0.000602214 0.000653741 1 0 LACE1 246269 broad.mit.edu 37 6 108843529 108843529 + Silent SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:108843529C>T uc003psj.2 + 13 1533 c.1347C>T c.(1345-1347)ACC>ACT p.T449T NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 449 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) CCATGTTTACCGGAGAAGAGG 0.378 NA 11 73 0 0 0 0 CCDC28A 25901 broad.mit.edu 37 6 139101113 139101113 + Missense_Mutation SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:139101113C>A uc003qie.2 + 3 738 c.583C>A c.(583-585)CAA>AAA p.Q195K NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 195 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGGAAAACTTCAAGCATTTGG 0.393 NA 11 62 2.27e-07 2.6e-07 1 0 KATNA1 11104 broad.mit.edu 37 6 149919454 149919454 + Missense_Mutation SNP A A C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:149919454A>C uc003qmr.1 - 7 966 c.921T>G c.(919-921)ATT>ATG p.I307M KATNA1_uc003qms.2_Missense_Mutation_p.I307M|KATNA1_uc003qmt.2_Missense_Mutation_p.I231M|KATNA1_uc011eed.1_Missense_Mutation_p.I231M NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 307 cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) CTATCTCATCAATAAATATGG 0.393 NA 20 59 0 0 0 0 SYNJ2 8871 broad.mit.edu 37 6 158483059 158483059 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:158483059G>A uc003qqx.1 + 8 1065 c.990G>A c.(988-990)ACG>ACA p.T330T SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.T330T|SYNJ2_uc003qqy.1_Silent_p.T43T|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.T279T|SYNJ2_uc003qqz.1_5'UTR NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 330 SAC. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CGGGCGACACGCCTATGATCA 0.383 NA 40 286 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161160163 161160163 + Silent SNP G G A rs61731712 TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr6:161160163G>A uc003qtm.3 + 16 2004 c.1941G>A c.(1939-1941)CCG>CCA p.P647P NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 647 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ATCTCGAACCGCATGTTCAGG 0.478 NA 34 82 0 0 0 0 ALKBH4 54784 broad.mit.edu 37 7 102098318 102098318 + Silent SNP C C G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr7:102098318C>G uc003uzl.2 - 3 437 c.432G>C c.(430-432)GGG>GGC p.G144G ALKBH4_uc003uzm.2_Silent_p.G71G NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 144 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGCCCTCCAGCCCCGGGTAGA 0.667 NA 9 50 0 0 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144068318 144068318 + Missense_Mutation SNP A A T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr7:144068318A>T uc003wel.2 + 6 3714 c.3596A>T c.(3595-3597)CAT>CTT p.H1199L ARHGEF5_uc003wek.2_Missense_Mutation_p.H1199L|ARHGEF5_uc003wem.2_Missense_Mutation_p.H54L NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1199 DH. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GCTGTGGATCATTTCCAACTT 0.488 NA 15 201 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148483659 148483659 + Missense_Mutation SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr7:148483659G>A uc010lpg.2 + 12 1841 c.1315G>A c.(1315-1317)GAG>AAG p.E439K CUL1_uc003wey.2_Missense_Mutation_p.E439K|CUL1_uc003wez.2_Missense_Mutation_p.E329K|CUL1_uc003wfa.2_Missense_Mutation_p.E100K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 439 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAACCCAGAGGAGGCAGAACT 0.378 NA 17 36 0 0 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616610 77616610 + Missense_Mutation SNP T T G TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr8:77616610T>G uc003yav.2 + 2 674 c.287T>G c.(286-288)ATG>AGG p.M96R ZFHX4_uc003yat.1_Missense_Mutation_p.M96R|ZFHX4_uc003yau.1_Missense_Mutation_p.M96R|ZFHX4_uc003yaw.1_Missense_Mutation_p.M96R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 96 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGAAATACATGGAACACCAC 0.502 NA HNSCC(33;0.089) 66 125 0 0 0 0 PTP4A3 11156 broad.mit.edu 37 8 142441135 142441135 + Silent SNP C C T rs150126504 byFrequency TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr8:142441135C>T uc003ywg.1 + 5 847 c.513C>T c.(511-513)TGC>TGT p.C171C PTP4A3_uc003ywh.1_Silent_p.C146C|PTP4A3_uc010met.1_Missense_Mutation_p.A85V NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 171 early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) CCCGGTGCTGCGTTATGTAGC 0.622 NA 16 84 0 0 0 0 DNAI1 27019 broad.mit.edu 37 9 34514718 34514718 + Missense_Mutation SNP C C A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr9:34514718C>A uc003zum.2 + 18 1992 c.1799C>A c.(1798-1800)GCA>GAA p.A600E NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 600 WD 4. cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GTGTTCGCAGCAGTCACCACA 0.567 NA Kartagener_syndrome 24 93 1.66e-10 2.01e-10 1 0 SVEP1 79987 broad.mit.edu 37 9 113148250 113148250 + Silent SNP G G A TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr9:113148250G>A uc010mtz.2 - 43 10502 c.10165C>T c.(10165-10167)CTG>TTG p.L3389L SVEP1_uc010mty.2_Silent_p.L1315L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 3389 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCCTGCAGCAGAAAACCTTCC 0.493 NA 4 50 0 0 0 0 PNPLA4 8228 broad.mit.edu 37 X 7868777 7868777 + Missense_Mutation SNP C C T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chrX:7868777C>T uc011mhq.1 - 7 874 c.712G>A c.(712-714)GGT>AGT p.G238S PNPLA4_uc011mhr.1_Missense_Mutation_p.G238S|PNPLA4_uc011mhs.1_Missense_Mutation_p.G151S NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 238 lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) TCATCAAAACCACACTGATAC 0.343 NA 5 10 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21875473 21875473 + Missense_Mutation SNP G G C TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chrX:21875473G>C uc011mjp.1 + 1 871 c.871G>C c.(871-873)GCT>CCT p.A291P MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.A509P|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 291 Mediates transcriptional repression.|C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 ATGTGGCAAAGCTTTTCTTGA 0.537 NA 52 82 0 0 0 0 IGSF1 3547 broad.mit.edu 37 X 130409627 130409627 + Missense_Mutation SNP G G T TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chrX:130409627G>T uc004ewd.2 - 16 3247 c.3009C>A c.(3007-3009)CAC>CAA p.H1003Q IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1003 Extracellular (Potential).|Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CTCCTTCTTTGTGCAGAATGT 0.527 NA 8 34 5.69e-11 6.91e-11 1 0 CTNNA1 1495 broad.mit.edu 37 5 138145779 138145780 + In_Frame_Ins INS - - GTG TCGA-CN-6022-01A-21D-1683-08 TCGA-CN-6022-10A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 90cd2296-7133-4cbe-99cb-84b084eb88cd 9d1d3ad1-bcca-4d02-81e3-0807015fdd83 g.chr5:138145779_138145780insGTG uc003ldh.2 + 4 449_450 c.354_355insGTG c.(352-357)insGTG p.119_120insV CTNNA1_uc011cyx.1_In_Frame_Ins_p.16_17insV|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_In_Frame_Ins_p.119_120insV NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 119_120 Interaction with JUP and CTNNB1.|Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCTGCTCTTCTGTGAAGCGAGG 0.455 NA 15 84 --- --- --- --- NA NA NA NA