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 APITD1 378708 broad.mit.edu 37 1 10494001 10494001 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:10494001G>A uc001are.2 + 2 570 c.154G>A c.(154-156)GAG>AAG p.E52K APITD1_uc001arf.2_Missense_Mutation_p.E52K|APITD1_uc001arg.2_Missense_Mutation_p.G131E|APITD1_uc001arh.2_Missense_Mutation_p.E13K NM_199294 NP_954988 Q8N2Z9 CENPS_HUMAN apoptosis-inducing, TAF9-like domain 1 isoform 52 DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GGCCATTTCGGAGCTGACTTT 0.522 NA 43 125 0 0 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166514 19166514 + Missense_Mutation SNP G G A rs149445409 TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:19166514G>A uc001bba.1 - 6 2100 c.2099C>T c.(2098-2100)ACG>ATG p.T700M NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 700 Helical; Name=4; (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACTGAGGCCCGTGGCCAGCAT 0.562 NA 40 77 0 0 0 0 LPPR4 9890 broad.mit.edu 37 1 99771647 99771647 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:99771647G>A uc001dse.2 + 7 1479 c.1373G>A c.(1372-1374)CGA>CAA p.R458Q LPPR4_uc010oue.1_Missense_Mutation_p.R400Q NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 458 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AATGAAAGTCGAAAGTTGTCC 0.493 NA 27 67 0 0 0 0 CDC14A 8556 broad.mit.edu 37 1 100819350 100819350 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:100819350C>A uc001dtg.3 + 2 570 c.82C>A c.(82-84)CCA>ACA p.P28T CDC14A_uc009web.2_Intron|CDC14A_uc010oui.1_5'UTR|CDC14A_uc001dte.3_Missense_Mutation_p.P28T|CDC14A_uc001dtf.2_Missense_Mutation_p.P28T|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.P28T|CDC14A_uc009wec.1_Missense_Mutation_p.P28T NM_003672 NP_003663 Q9UNH5 CC14A_HUMAN CDC14 homolog A isoform 1 28 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1) 1 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AAGGAATAGACCAAAAAGCAC 0.358 NA 7 23 0.000274275 0.00107507 1 0 C1orf125 126859 broad.mit.edu 37 1 179401427 179401427 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:179401427A>C uc001gmo.2 + 15 1640 c.1513A>C c.(1513-1515)AAG>CAG p.K505Q C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.K293Q|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K505Q NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 505 0 ATCCCCTAATAAGGGAAATAT 0.308 NA 4 11 0 0 0 0 RGS2 5997 broad.mit.edu 37 1 192780144 192780144 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:192780144C>T uc001gsl.2 + 4 341 c.308C>T c.(307-309)TCG>TTG p.S103L NM_002923 NP_002914 P41220 RGS2_HUMAN regulator of G-protein signaling 2 103 RGS.|Necessary to inhibit protein synthesis. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity 0 TTTTTAAAGTCGGAATTCTGT 0.398 NA 36 88 0 0 0 0 PFKFB2 5208 broad.mit.edu 37 1 207240960 207240960 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:207240960G>A uc001hfg.2 + 9 858 c.749G>A c.(748-750)CGC>CAC p.R250H PFKFB2_uc010psc.1_Missense_Mutation_p.R152H|PFKFB2_uc001hfh.2_Missense_Mutation_p.R250H|PFKFB2_uc009xcc.2_Missense_Mutation_p.R208H|PFKFB2_uc010psd.1_Missense_Mutation_p.R64H NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 250 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) GTCCAGCCTCGCACCATTTAC 0.507 NA 50 114 0 0 0 0 KCNK2 3776 broad.mit.edu 37 1 215408401 215408401 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:215408401C>T uc001hkq.2 + 7 1363 c.1194C>T c.(1192-1194)CCC>CCT p.P398P KCNK2_uc001hko.2_Silent_p.P394P|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Silent_p.P383P NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 398 Cytoplasmic (Potential).|Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) TCTTGCCTCCCTTACTGAAGA 0.493 NA 17 37 0 0 0 0 DISC1 27185 broad.mit.edu 37 1 231830106 231830106 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:231830106G>T uc001huz.2 + 2 655 c.602G>T c.(601-603)GGC>GTC p.G201V TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.G156V|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.G190V|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.G201V|DISC1_uc010pwp.1_Missense_Mutation_p.G201V|DISC1_uc010pwq.1_Missense_Mutation_p.G201V|DISC1_uc010pwr.1_Missense_Mutation_p.G201V|DISC1_uc010pws.1_Missense_Mutation_p.G201V|DISC1_uc010pwt.1_Missense_Mutation_p.G201V|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.G201V|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.G201V|DISC1_uc010pxb.1_Missense_Mutation_p.G201V|DISC1_uc010pxc.1_Missense_Mutation_p.G201V|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.G201V|DISC1_uc009xfr.2_Missense_Mutation_p.G156V|DISC1_uc010pxf.1_Missense_Mutation_p.G201V|DISC1_uc010pxg.1_Missense_Mutation_p.G201V|DISC1_uc010pxh.1_Missense_Mutation_p.G201V|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.G201V|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.G201V|DISC1_uc010pwm.1_Missense_Mutation_p.G201V|DISC1_uc001hux.1_Missense_Mutation_p.G201V|DISC1_uc001hvc.3_Missense_Mutation_p.G201V|DISC1_uc010pwn.1_Missense_Mutation_p.G201V NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 201 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) ACCCCTCCTGGCTCTCACAGT 0.612 NA 9 66 7.48e-07 3.02e-06 1 0 RGS7 6000 broad.mit.edu 37 1 240939491 240939491 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:240939491C>T uc001hyv.2 - 18 1766 c.1436G>A c.(1435-1437)AGG>AAG p.R479K RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_3'UTR|RGS7_uc001hyu.2_3'UTR|RGS7_uc009xgn.1_3'UTR|RGS7_uc001hyw.2_Missense_Mutation_p.R461K|RGS7_uc010pyi.1_RNA|RGS7_uc001hyt.2_3'UTR NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 Error:Variant_position_missing_in_P49802_after_alignment G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCTTGTTAACCTCTTGGACGT 0.403 NA 4 55 0 0 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43692516 43692516 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr10:43692516T>C uc001jap.1 - 11 1337 c.1256A>G c.(1255-1257)GAG>GGG p.E419G RASGEF1A_uc001jao.1_Missense_Mutation_p.E427G NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 419 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 TGTCATGAACTCATGGATCTG 0.517 NA 13 56 0 0 0 0 OR52M1 119772 broad.mit.edu 37 11 4566851 4566851 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:4566851G>A uc010qyf.1 + 1 431 c.431G>A c.(430-432)GGT>GAT p.G144D NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTGGTGGGTCGTTTGGGG 0.522 NA 28 60 0 0 0 0 OR51A4 401666 broad.mit.edu 37 11 4967421 4967421 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:4967421C>T uc010qys.1 - 1 910 c.910G>A c.(910-912)GTT>ATT p.V304I NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTGCTACAACTCTCACTCTA 0.353 NA 28 254 0 0 0 0 NAV2 89797 broad.mit.edu 37 11 19735323 19735323 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:19735323C>T uc010rdm.1 + 1 443 c.82C>T c.(82-84)CCC>TCC p.P28S NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.P28S|LOC100126784_uc010rdl.1_3'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 28 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CCTGCACGTgcccccggcccg 0.547 NA 7 25 0 0 0 0 EHF 26298 broad.mit.edu 37 11 34673089 34673089 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:34673089A>T uc001mvr.1 + 5 518 c.407A>T c.(406-408)GAG>GTG p.E136V EHF_uc009yke.1_Missense_Mutation_p.E136V|EHF_uc009ykf.1_Missense_Mutation_p.E139V NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 136 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) TTTTTTGTAGAGCCTTCCATC 0.423 NA 20 41 0 0 0 0 SPI1 6688 broad.mit.edu 37 11 47381575 47381575 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:47381575G>C uc001nfc.1 - 3 382 c.159C>G c.(157-159)TTC>TTG p.F53L SPI1_uc001nfb.1_Missense_Mutation_p.F54L|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.F47L NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 53 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) GGTGGGGGTGGAAGTCCCAGT 0.582 NA 6 6 0 0 0 0 OR8J1 219477 broad.mit.edu 37 11 56128447 56128447 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:56128447C>T uc010rjh.1 + 1 725 c.725C>T c.(724-726)GCT>GTT p.A242V NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCTACCTGTGCTTCACATATG 0.348 NA 35 69 0 0 0 0 SF3B2 10992 broad.mit.edu 37 11 65826722 65826722 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:65826722C>T uc001ogy.1 + 11 1273 c.1233C>T c.(1231-1233)GAC>GAT p.D411D NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 411 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 AGAAACTTGACAAACTGGAGA 0.532 NA 10 27 0 0 0 0 INPPL1 3636 broad.mit.edu 37 11 71939892 71939892 + Splice_Site SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:71939892G>A uc001osf.2 + 4 665 c.518_splice c.e4+1 p.S173_splice INPPL1_uc001osg.2_Splice_Site NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CTGCTGAGAGGTGAGACCCCC 0.627 NA 21 44 0 0 0 0 USP35 57558 broad.mit.edu 37 11 77924730 77924730 + Silent SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:77924730C>A uc009yva.1 + 11 3174 c.2928C>A c.(2926-2928)ATC>ATA p.I976I USP35_uc001ozc.2_Silent_p.I544I|USP35_uc010rsp.1_Silent_p.I408I|USP35_uc001ozd.2_Silent_p.I587I|USP35_uc001ozf.2_Silent_p.I707I NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 976 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) CGGCCTACATCTCTGCACTCC 0.577 NA 19 53 4.97e-08 2.03e-07 1 0 FAT3 120114 broad.mit.edu 37 11 92085482 92085482 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:92085482G>A uc001pdj.3 + 1 221 c.204G>A c.(202-204)ATG>ATA p.M68I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 68 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAGTAGAATGGGCATCACCT 0.458 NA TCGA Ovarian(4;0.039) 16 48 0 0 0 0 SLC36A4 120103 broad.mit.edu 37 11 92901243 92901243 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:92901243T>C uc001pdn.2 - 7 732 c.635A>G c.(634-636)TAT>TGT p.Y212C SLC36A4_uc001pdm.2_Missense_Mutation_p.Y77C NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 212 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCAAAGCATATATATCCTTAG 0.353 NA 19 47 0 0 0 0 JRKL 8690 broad.mit.edu 37 11 96125222 96125222 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:96125222T>G uc009ywu.2 + 2 1661 c.1409T>G c.(1408-1410)CTA>CGA p.L470R CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.L470R NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 470 central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) GAAATAGAACTAATTCCAGAG 0.398 NA 5 22 0 0 0 0 ROBO4 54538 broad.mit.edu 37 11 124756427 124756427 + Silent SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr11:124756427G>T uc001qbg.2 - 16 2867 c.2727C>A c.(2725-2727)GCC>GCA p.A909A ROBO4_uc010sas.1_Silent_p.A764A|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Silent_p.A467A NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 909 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCACTGCCAGGGCCCGGGCAA 0.602 NA 8 39 5.18e-06 2.07e-05 1 0 FKBP4 2288 broad.mit.edu 37 12 2907902 2907902 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:2907902C>A uc001qkz.2 + 4 622 c.424C>A c.(424-426)CTG>ATG p.L142M NM_002014 NP_002005 Q02790 FKBP4_HUMAN FK506 binding protein 52 142 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging 0 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) GGGAGAAGATCTGACGGAAGA 0.463 NA 49 148 5.57e-27 2.47e-26 1 0 GALNT8 26290 broad.mit.edu 37 12 4854675 4854675 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:4854675C>T uc001qne.1 + 5 1033 c.941C>T c.(940-942)ACC>ATC p.T314I NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 314 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CGTTTTGACACCTTCAAACTG 0.488 NA 23 69 0 0 0 0 KCNA1 3736 broad.mit.edu 37 12 5021157 5021157 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:5021157A>T uc001qnh.2 + 2 1718 c.613A>T c.(613-615)ATC>TTC p.I205F NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 205 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGTCCACCGCATCGACAACAC 0.537 NA 19 48 0 0 0 0 PRB1 5542 broad.mit.edu 37 12 11506558 11506558 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:11506558C>A uc001qzw.1 - 4 516 c.479G>T c.(478-480)GGA>GTA p.G160V PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 221 9.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGCTT 0.602 NA 15 45 7.38e-10 3.08e-09 1 0 PRB2 653247 broad.mit.edu 37 12 11546653 11546653 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:11546653C>A uc010shk.1 - 3 394 c.359G>T c.(358-360)GGA>GTA p.G120V NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGCTT 0.597 NA 32 713 6.91e-12 2.93e-11 1 0 MRPS35 60488 broad.mit.edu 37 12 27888432 27888432 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:27888432A>C uc001rih.2 + 6 623 c.575A>C c.(574-576)AAA>ACA p.K192T MRPS35_uc001rii.2_Intron NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor 192 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) AAATTAATTAAACTTGTAGGA 0.323 NA 22 54 0 0 0 0 KRT4 3851 broad.mit.edu 37 12 53201426 53201426 + Splice_Site SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:53201426A>G uc001saz.2 - 7 1839 c.1568_splice c.e7+1 p.R523_splice NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 keratin filament structural molecule activity ovary(4)|skin(2) 6 CTAACCCCTCACCTGTACTCC 0.582 NA 31 57 0 0 0 0 GALNT4 8693 broad.mit.edu 37 12 89917883 89917883 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:89917883C>A uc001tbd.2 - 1 653 c.444G>T c.(442-444)TGG>TGT p.W148C POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.W145C|GALNT4_uc010suo.1_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 148 Lumenal (Potential).|Catalytic subdomain A. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 GCAAAGTCGACCAGGCTTCGT 0.398 NA OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 45 1.34e-09 5.53e-09 1 0 ACTR6 64431 broad.mit.edu 37 12 100604114 100604114 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:100604114A>T uc001thb.1 + 6 613 c.557A>T c.(556-558)GAG>GTG p.E186V ACTR6_uc001thc.1_Missense_Mutation_p.E78V|ACTR6_uc001thd.1_Missense_Mutation_p.E186V|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E104V|ACTR6_uc001thf.1_Missense_Mutation_p.E104V|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 186 cytoplasm|cytoskeleton ovary(1) 1 CATCTAAAGGAGATCATATCT 0.358 NA 33 75 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124979778 124979778 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr12:124979778G>A uc010tba.1 - 1 137 c.20C>T c.(19-21)CCT>CTT p.P7L NCOR2_uc010tay.1_Missense_Mutation_p.P7L|NCOR2_uc010taz.1_Missense_Mutation_p.P7L|NCOR2_uc010tbb.1_Missense_Mutation_p.P7L|NCOR2_uc010tbc.1_Missense_Mutation_p.P7L|NCOR2_uc001ugj.1_Missense_Mutation_p.P7L|NCOR2_uc001ugk.1_Missense_Mutation_p.P7L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 7 P -> L (in Ref. 2; AAD20946). cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTGTGCCACAGGCTGTGTGGA 0.627 NA 5 29 0 0 0 0 KIAA1704 55425 broad.mit.edu 37 13 45580367 45580367 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr13:45580367T>C uc001uzq.2 + 3 355 c.252T>C c.(250-252)GAT>GAC p.D84D KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_Silent_p.D84D|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN hypothetical protein LOC55425 84 Poly-Asp. pancreas(1)|skin(1) 2 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) atgatgacgatgatgatgatg 0.289 NA 4 175 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46716466 46716466 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr13:46716466C>T uc001vaz.3 - 13 1589 c.1463G>A c.(1462-1464)CGC>CAC p.R488H LCP1_uc010ack.2_Missense_Mutation_p.R57H|LCP1_uc001vay.3_Missense_Mutation_p.R85H|LCP1_uc001vba.3_Missense_Mutation_p.R488H NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 488 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGTGAGAGTGCGGTTTCCTTC 0.413 NA T BCL6 NHL 16 97 0 0 0 0 OR11H12 440153 broad.mit.edu 37 14 19378056 19378056 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:19378056C>A uc010tkp.1 + 1 463 c.463C>A c.(463-465)CTC>ATC p.L155I NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 155 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTGGGCATCTCTGTGCCAA 0.473 NA 34 436 3.63e-18 1.58e-17 1 0 OXA1L 5018 broad.mit.edu 37 14 23240279 23240279 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:23240279C>A uc001wgn.2 + 8 1172 c.1172C>A c.(1171-1173)TCC>TAC p.S391Y OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Missense_Mutation_p.S391Y|OXA1L_uc001wgp.2_Missense_Mutation_p.S315Y|OXA1L_uc001wgq.2_Missense_Mutation_p.S95Y NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 331 Mitochondrial matrix (Potential). aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) GTCCAAGTATCCTGTCTCCGG 0.507 NA 51 105 2.7e-25 1.19e-24 1 0 KIAA1737 85457 broad.mit.edu 37 14 77579969 77579969 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:77579969A>G uc001xtd.2 + 4 687 c.508A>G c.(508-510)AGG>GGG p.R170G KIAA1737_uc001xtc.1_Missense_Mutation_p.R72G NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 170 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) TCCAGGCAAAAGGGGCCTTTC 0.488 NA 3 105 0 0 0 0 FAM98B 283742 broad.mit.edu 37 15 38773633 38773633 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:38773633G>A uc001zkb.1 + 7 905 c.870G>A c.(868-870)CGG>CGA p.R290R FAM98B_uc001zkc.2_Silent_p.R290R NM_001042429 NP_001035894 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 290 tRNA-splicing ligase complex protein binding ovary(1) 1 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GCACCAGCCGGGAGAAGACCG 0.398 NA 11 48 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48784730 48784730 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:48784730T>G uc001zwx.1 - 24 3110 c.2782A>C c.(2782-2784)AAC>CAC p.N928H NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 928 EGF-like 14; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCCCTAGTGTTAACACACAGG 0.348 NA 8 36 0 0 0 0 SNX33 257364 broad.mit.edu 37 15 75941779 75941779 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:75941779T>G uc002bau.2 + 1 432 c.336T>G c.(334-336)GAT>GAG p.D112E IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 112 Poly-Asp. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 TTGAGGAGGATGATGATGATG 0.622 NA 3 100 0 0 0 0 NTRK3 4916 broad.mit.edu 37 15 88678559 88678559 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr15:88678559C>A uc002bme.1 - 9 1139 c.977G>T c.(976-978)CGT>CTT p.R326L NTRK3_uc002bmh.2_Missense_Mutation_p.R326L|NTRK3_uc002bmf.1_Missense_Mutation_p.R326L|NTRK3_uc010upl.1_Missense_Mutation_p.R228L|NTRK3_uc010bnh.1_Missense_Mutation_p.R326L|NTRK3_uc002bmg.2_Missense_Mutation_p.R326L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 326 Ig-like C2-type 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGGTTGCCACGCACCACAAA 0.592 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 22 38 5.26e-13 2.25e-12 1 0 CDH8 1006 broad.mit.edu 37 16 61687669 61687669 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:61687669C>A uc002eog.1 - 12 2495 c.2243G>T c.(2242-2244)GGC>GTC p.G748V NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 748 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCTTCATAGCCATATATCTG 0.502 NA 14 45 6.72e-11 2.83e-10 1 0 CDH16 1014 broad.mit.edu 37 16 66947070 66947070 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:66947070C>T uc002eql.2 - 9 1091 c.1018G>A c.(1018-1020)GAC>AAC p.D340N CDH16_uc010cdy.2_Missense_Mutation_p.D340N|CDH16_uc002eqm.2_Missense_Mutation_p.D243N NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 340 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ACTGTGGGGTCACGGGGAGGG 0.587 NA 33 118 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68732227 68732227 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:68732227A>G uc002ewf.2 + 16 3546 c.2414A>G c.(2413-2415)GAT>GGT p.D805G CDH3_uc010vli.1_Missense_Mutation_p.D750G NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 805 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) CAAGACCAAGATTACGATTAT 0.642 NA 34 112 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145910 81145910 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr16:81145910A>T uc002fgh.1 - 42 6842 c.6842T>A c.(6841-6843)CTC>CAC p.L2281H PKD1L2_uc002fgf.1_Missense_Mutation_p.L81H|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2281 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGTGGACAGGAGTACCAGGAA 0.547 NA 11 82 0 0 0 0 FXR2 9513 broad.mit.edu 37 17 7497597 7497597 + Nonsense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:7497597G>A uc002gia.1 - 10 1206 c.979C>T c.(979-981)CGA>TGA p.R327* FXR2_uc010vud.1_Nonsense_Mutation_p.R327* NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related 327 cytosolic large ribosomal subunit protein binding|RNA binding 0 READ - Rectum adenocarcinoma(115;0.17) CCTTCCACTCGAACCCTCACC 0.468 NA 6 24 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578520 7578520 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:7578520A>T uc002gim.2 - 5 604 c.410T>A c.(409-411)CTG>CAG p.L137Q TP53_uc002gig.1_Missense_Mutation_p.L137Q|TP53_uc002gih.2_Missense_Mutation_p.L137Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L5Q|TP53_uc010cng.1_Missense_Mutation_p.L5Q|TP53_uc002gii.1_Missense_Mutation_p.L5Q|TP53_uc010cnh.1_Missense_Mutation_p.L137Q|TP53_uc010cni.1_Missense_Mutation_p.L137Q|TP53_uc002gij.2_Missense_Mutation_p.L137Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L44Q|TP53_uc002gio.2_Missense_Mutation_p.L5Q|TP53_uc010vug.1_Missense_Mutation_p.L98Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 137 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> M (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L137L(6)|p.L137P(3)|p.N131fs*27(2)|p.L137Q(2)|p.L137M(2)|p.V73fs*9(1)|p.L137_W146del10(1)|p.C135_T140delCQLAKT(1)|p.L137_A138insX(1)|p.L137fs*12(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.F134_T140>S(1)|p.Q136_K139delQLAK(1)|p.L137fs*33(1)|p.L137V(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) GGTCTTGGCCAGTTGGCAAAA 0.562 111 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) 28 21 0 0 0 0 DHX58 79132 broad.mit.edu 37 17 40256842 40256842 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:40256842A>C uc002hyw.3 - 11 1728 c.1505T>G c.(1504-1506)CTG>CGG p.L502R DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.L495R NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 502 Potential.|Helicase C-terminal. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CTGCTCCATCAGCGTCTCCAG 0.632 NA 7 17 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41256883 41256883 + Splice_Site SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:41256883A>C uc002icq.2 - 5 533 c.301_splice c.e5+1 p.Y101_splice BRCA1_uc010whp.1_Splice_Site_p.Y54_splice|BRCA1_uc010whl.1_Splice_Site_p.Y101_splice|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Splice_Site_p.Y31_splice|BRCA1_uc002icu.2_Splice_Site_p.Y101_splice|BRCA1_uc010cyx.2_Splice_Site_p.Y54_splice|BRCA1_uc002ict.2_Splice_Site_p.Y101_splice|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Splice_Site_p.Y101_splice|BRCA1_uc010whr.1_Splice_Site_p.Y54_splice|BRCA1_uc002idd.2_Splice_Site_p.Y101_splice|BRCA1_uc002ide.1_Intron|BRCA1_uc010cyy.1_Splice_Site_p.Y101_splice|BRCA1_uc010whs.1_Splice_Site_p.Y101_splice|BRCA1_uc010cyz.2_Splice_Site_p.Y54_splice|BRCA1_uc010cza.2_Splice_Site_p.Y75_splice|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTCAACACTTACACTCCAAAC 0.373 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 28 47 0 0 0 0 UBTF 7343 broad.mit.edu 37 17 42284865 42284865 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:42284865G>A uc002igb.2 - 19 2193 c.2126C>T c.(2125-2127)TCC>TTC p.S709F UBTF_uc002igc.2_Missense_Mutation_p.S672F|UBTF_uc010czs.2_Missense_Mutation_p.S709F|UBTF_uc002igd.2_Missense_Mutation_p.S672F|UBTF_uc010czt.2_Missense_Mutation_p.S709F NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 709 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGACTCAGAGGAGTCGCCGCC 0.468 NA 17 27 0 0 0 0 ITGB3 3690 broad.mit.edu 37 17 45360736 45360736 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:45360736C>T uc002ilj.2 + 3 202 c.182C>T c.(181-183)TCA>TTA p.S61L ITGB3_uc002ili.1_Missense_Mutation_p.S61L|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 61 Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CCTCTGGGCTCACCTCGCTGT 0.567 NA 21 38 0 0 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076479 47076479 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:47076479G>C uc002iom.2 + 2 518 c.184G>C c.(184-186)GAA>CAA p.E62Q IGF2BP1_uc010dbj.2_Missense_Mutation_p.E62Q NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 62 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 AGGGAAAGTAGAATTACAAGG 0.468 NA 6 28 0 0 0 0 MKS1 54903 broad.mit.edu 37 17 56291137 56291137 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:56291137T>C uc002ivr.1 - 7 813 c.738A>G c.(736-738)AAA>AAG p.K246K MKS1_uc010wnq.1_Silent_p.K43K|MKS1_uc002ivs.1_Silent_p.K246K NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 246 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 TGTAGGGTCCTTTGAGGCCCG 0.473 NA 32 65 0 0 0 0 TTYH2 94015 broad.mit.edu 37 17 72246094 72246094 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr17:72246094G>A uc002jkc.2 + 9 981 c.950G>A c.(949-951)CGC>CAC p.R317H TTYH2_uc010wqw.1_Missense_Mutation_p.R296H|TTYH2_uc002jkd.2_5'UTR NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 317 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 ACCTTCCAGCGCGCACTTACC 0.642 NA 21 83 0 0 0 0 CETN1 1068 broad.mit.edu 37 18 580762 580762 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr18:580762C>T uc002kko.1 + 1 396 c.354C>T c.(352-354)ACC>ACT p.T118T NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 118 EF-hand 3. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 ACGATGAGACCGGGAAGATCT 0.537 NA 23 39 0 0 0 0 C18orf1 753 broad.mit.edu 37 18 13621135 13621135 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr18:13621135A>C uc002ksa.2 + 5 869 c.201A>C c.(199-201)CAA>CAC p.Q67H C18orf1_uc002ksb.2_Missense_Mutation_p.Q67H|C18orf1_uc002kse.2_Missense_Mutation_p.Q30H|C18orf1_uc002ksf.2_Missense_Mutation_p.Q30H|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.Q9H|C18orf1_uc002ksi.1_Missense_Mutation_p.Q9H NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 67 Helical; (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) AGTTCGCCCAAATCATCATCA 0.602 NA 47 95 0 0 0 0 ZNF556 80032 broad.mit.edu 37 19 2877900 2877900 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:2877900A>G uc002lwp.1 + 4 1031 c.944A>G c.(943-945)TAT>TGT p.Y315C ZNF556_uc002lwq.2_Missense_Mutation_p.Y314C NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 315 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGAAACCCTATAAGTGTGGA 0.527 NA 6 36 0 0 0 0 TLE2 7089 broad.mit.edu 37 19 3002388 3002388 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:3002388G>C uc002lww.2 - 18 2273 c.2010C>G c.(2008-2010)CAC>CAG p.H670Q TLE2_uc010xhb.1_Missense_Mutation_p.H337Q|TLE2_uc010dth.2_Missense_Mutation_p.H671Q|TLE2_uc010xhc.1_Missense_Mutation_p.H548Q|TLE2_uc010dti.2_Missense_Mutation_p.H684Q NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 670 WD 5. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCAGCTCTCGTGGAGGTGCA 0.612 NA 7 27 0 0 0 0 C3 718 broad.mit.edu 37 19 6697422 6697422 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:6697422A>G uc002mfm.2 - 21 2791 c.2729T>C c.(2728-2730)GTG>GCG p.V910A NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 910 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTGACTTCCACTTCCTGCAG 0.567 NA 29 57 0 0 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8662012 8662012 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:8662012G>A uc002mkj.1 - 8 1173 c.899C>T c.(898-900)ACT>ATT p.T300I ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 300 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 GATCTCCAGAGTGGGCTGGGG 0.602 NA 26 65 0 0 0 0 CHERP 10523 broad.mit.edu 37 19 16638963 16638963 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:16638963G>A uc002nei.1 - 9 1307 c.1233C>T c.(1231-1233)CAC>CAT p.H411H MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 411 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GGATCTGGTCGTGTggcccgg 0.532 NA 27 71 0 0 0 0 ZNF567 163081 broad.mit.edu 37 19 37210259 37210259 + Silent SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:37210259A>G uc010xtl.1 + 6 855 c.633A>G c.(631-633)GGA>GGG p.G211G ZNF567_uc002oeo.1_Silent_p.G211G|ZNF567_uc010xtk.1_Silent_p.G211G|ZNF567_uc002oep.3_Silent_p.G180G|ZNF567_uc002oeq.1_Silent_p.G180G NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 211 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTCATTTGGATATAATGACT 0.368 NA 16 29 0 0 0 0 LRFN1 57622 broad.mit.edu 37 19 39804929 39804929 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:39804929G>A uc002okw.2 - 1 1048 c.1048C>T c.(1048-1050)CGG>TGG p.R350W NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 350 Ig-like.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCGTCCCCCCGGACCCGGGTC 0.692 NA 9 13 0 0 0 0 ZNF546 339327 broad.mit.edu 37 19 40520758 40520758 + Silent SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:40520758T>C uc002oms.2 + 7 1837 c.1581T>C c.(1579-1581)TGT>TGC p.C527C ZNF546_uc002omt.2_Silent_p.C501C NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 527 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CCTACATATGTAACGAATGTG 0.403 NA 23 41 0 0 0 0 ZNF816A 125893 broad.mit.edu 37 19 53454451 53454451 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:53454451G>C uc002qal.1 - 5 878 c.577C>G c.(577-579)CAA>GAA p.Q193E ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.Q177E NM_001031665 NP_001026835 Q0VGE8 ZN816_HUMAN zinc finger protein 816A 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0313) GAAATTCTTTGGGATTCTGAA 0.378 NA 31 64 0 0 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692110 54692110 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:54692110G>T uc002qdq.2 - 4 433 c.167C>A c.(166-168)ACC>AAC p.T56N MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.T38N|MBOAT7_uc002qdr.2_Missense_Mutation_p.T56N|MBOAT7_uc002qds.2_Missense_Mutation_p.H25Q|MBOAT7_uc010yen.1_Missense_Mutation_p.H25Q|MBOAT7_uc002qdt.3_Missense_Mutation_p.T56N|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 56 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCCGAGGATGGTGACCAGAGA 0.642 NA 21 37 8.05e-18 3.49e-17 1 0 CTNNA2 1496 broad.mit.edu 37 2 80782950 80782950 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:80782950T>C uc010ysh.1 + 11 1678 c.1673T>C c.(1672-1674)ATG>ACG p.M558T CTNNA2_uc010yse.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysf.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysg.1_Missense_Mutation_p.M558T|CTNNA2_uc010ysi.1_Missense_Mutation_p.M190T NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 558 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AATGCTGAGATGGAGAACTAT 0.512 NA 10 79 0 0 0 0 GCG 2641 broad.mit.edu 37 2 163005678 163005678 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:163005678A>G uc002ucc.2 - 2 110 c.11T>C c.(10-12)ATT>ACT p.I4T NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 4 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) CACAAAGTAAATGCTTTTCAT 0.433 NA 59 114 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170134277 170134277 + Missense_Mutation SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:170134277C>A uc002ues.2 - 13 1963 c.1750G>T c.(1750-1752)GTA>TTA p.V584L LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 584 LDL-receptor class B 4.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCATAAGTTACAGTTTCAATG 0.388 NA 25 43 4.27e-12 1.82e-11 1 0 ARPC2 10109 broad.mit.edu 37 2 219099116 219099116 + Silent SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:219099116A>G uc002vhd.2 + 5 376 c.264A>G c.(262-264)GAA>GAG p.E88E ARPC2_uc002vhe.2_Silent_p.E88E|ARPC2_uc002vhf.2_5'Flank NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 88 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) TAAATCCAGAATCAGGTATGT 0.328 NA 19 45 0 0 0 0 ACSL3 2181 broad.mit.edu 37 2 223773571 223773571 + Missense_Mutation SNP T T A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:223773571T>A uc002vni.2 + 4 532 c.81T>A c.(79-81)CAT>CAA p.H27Q ACSL3_uc002vnj.2_Missense_Mutation_p.H27Q NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 27 Helical; Signal-anchor for type III membrane protein; (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) ATTTTATACATTTTCTAATAT 0.289 NA T ETV1 prostate 19 39 0 0 0 0 DGKD 8527 broad.mit.edu 37 2 234346041 234346041 + Nonsense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:234346041G>T uc002vui.1 + 8 850 c.838G>T c.(838-840)GAA>TAA p.E280* DGKD_uc002vuj.1_Nonsense_Mutation_p.E236*|DGKD_uc010fyh.1_Nonsense_Mutation_p.E147*|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Nonsense_Mutation_p.E147* NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 280 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) ATCGTGTAAAGAATCCTTGCT 0.542 NA 11 22 0.000978159 0.00377345 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238672160 238672160 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr2:238672160T>G uc002vxe.2 + 11 2096 c.1804T>G c.(1804-1806)TTA>GTA p.L602V LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.L578V|LRRFIP1_uc002vxf.2_Missense_Mutation_p.L546V NM_001137552 NP_001131024 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting 602 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding breast(3) 3 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) GAACACAGATTTAAGTGAAAT 0.318 NA 5 11 0 0 0 0 CDH26 60437 broad.mit.edu 37 20 58560126 58560126 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr20:58560126C>T uc002ybe.2 + 7 1079 c.779C>T c.(778-780)ACC>ATC p.T260I CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 260 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TCCACGACCACCGTTCACGTG 0.547 NA 8 42 0 0 0 0 BAGE2 85319 broad.mit.edu 37 21 11049596 11049596 + Missense_Mutation SNP C C T rs28571918 TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr21:11049596C>T uc002yit.1 - 4 513 c.305G>A c.(304-306)TGT>TAT p.C102Y NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGCTGTCGCACACTGCACAGT 0.373 NA 27 110 0 0 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768590 31768590 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr21:31768590G>T uc002yoa.2 + 1 199 c.186G>T c.(184-186)GAG>GAT p.E62D NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 62 5 X 10 AA approximate repeats.|2. intermediate filament p.E62D(1) ovary(1) 1 CCTGCTGGGAGCCCACCAGCT 0.612 NA 19 43 1.34e-09 5.53e-09 1 0 PRDM15 63977 broad.mit.edu 37 21 43279700 43279700 + Splice_Site SNP C C A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr21:43279700C>A uc002yzq.1 - 9 1142 c.1031_splice c.e9+1 p.R344_splice PRDM15_uc002yzo.2_Splice_Site_p.R81_splice|PRDM15_uc002yzp.2_Splice_Site_p.R81_splice|PRDM15_uc002yzr.1_Splice_Site_p.R81_splice NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGGTCACTCACCTTGCCCTGC 0.612 NA 10 12 3.86e-05 0.000153229 1 0 TFIP11 24144 broad.mit.edu 37 22 26902303 26902303 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:26902303G>A uc003acr.2 - 5 860 c.486C>T c.(484-486)TAC>TAT p.Y162Y TFIP11_uc003acs.2_Silent_p.Y162Y|TFIP11_uc003act.2_Silent_p.Y162Y NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 162 G-patch. biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 GTCCAGGGACGTAGCCCATCT 0.527 NA 14 86 0 0 0 0 FBLN1 2192 broad.mit.edu 37 22 45944530 45944530 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:45944530C>G uc003bgj.1 + 13 1626 c.1479C>G c.(1477-1479)ATC>ATG p.I493M FBLN1_uc003bgg.1_Missense_Mutation_p.I493M|FBLN1_uc003bgh.2_Missense_Mutation_p.I493M|FBLN1_uc010gzz.2_Missense_Mutation_p.I531M|FBLN1_uc003bgi.1_Missense_Mutation_p.I493M NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 493 EGF-like 8; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGGGCCACATCTGCTCCTACC 0.652 NA 13 38 0 0 0 0 CCR8 1237 broad.mit.edu 37 3 39374725 39374725 + Silent SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:39374725T>G uc010hhr.2 + 2 1041 c.903T>G c.(901-903)GCT>GCG p.A301A CCR8_uc003cjm.2_Silent_p.A218A NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 301 Helical; Name=7; (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TTATCTATGCTTTTGTTGGGG 0.423 NA 20 27 0 0 0 0 RBM6 10180 broad.mit.edu 37 3 50095370 50095370 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:50095370A>T uc003cyc.2 + 9 2036 c.1903A>T c.(1903-1905)ACT>TCT p.T635S RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.T154S|RBM6_uc003cyd.2_Missense_Mutation_p.T113S|RBM6_uc003cye.2_Missense_Mutation_p.T113S|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 635 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAAGGGCCAACTTTCCGAAG 0.517 NA 6 10 0 0 0 0 FOXP1 27086 broad.mit.edu 37 3 71026794 71026794 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:71026794C>G uc003dol.2 - 12 1751 c.1428G>C c.(1426-1428)CAG>CAC p.Q476H FOXP1_uc003dom.2_Missense_Mutation_p.Q400H|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q475H|FOXP1_uc003dop.2_Missense_Mutation_p.Q476H|FOXP1_uc003doq.1_Missense_Mutation_p.Q475H|FOXP1_uc003doi.2_Missense_Mutation_p.Q376H|FOXP1_uc003doj.2_Missense_Mutation_p.Q376H|FOXP1_uc003dok.2_Missense_Mutation_p.Q289H|FOXP1_uc003dor.1_Missense_Mutation_p.Q253H NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 476 Fork-head. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) ATTTACTTACCTGCCTAATTA 0.323 NA T PAX5 ALL 10 48 0 0 0 0 ALG1L2 644974 broad.mit.edu 37 3 129811047 129811047 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:129811047A>T uc011bld.1 + 3 421 c.235A>T c.(235-237)AGC>TGC p.S79C ALG1L2_uc010hth.2_RNA NM_001136152 NP_001129624 C9J202 AG1L2_HUMAN asparagine-linked glycosylation 1-like 2 79 biosynthetic process transferase activity, transferring glycosyl groups 0 CCTGCTGGTCAGCAGCACAAG 0.642 NA 3 9 0 0 0 0 TXNDC6 347736 broad.mit.edu 37 3 138037035 138037035 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:138037035G>A uc003esg.2 - 4 250 c.222C>T c.(220-222)CTC>CTT p.L74L TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Silent_p.L52L NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 74 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 TGTACTTTTCGAGGACATCAA 0.458 NA 46 32 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195498614 195498614 + Missense_Mutation SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr3:195498614G>A uc011bto.1 - 6 13227 c.12767C>T c.(12766-12768)ACA>ATA p.T4256I MUC4_uc003fuz.2_Nonsense_Mutation_p.Q64*|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Intron|MUC4_uc003fvc.2_Intron|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_Intron|MUC4_uc011btj.1_Missense_Mutation_p.T125I|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Missense_Mutation_p.T125I|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.T148I|MUC4_uc003fvp.2_Missense_Mutation_p.T97I|MUC4_uc010hzu.1_Missense_Mutation_p.T996I NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1141 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) TGTGAAGCCTGTTGGGAGTGG 0.557 NA 30 85 0 0 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864910 6864910 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:6864910A>G uc003gjr.3 + 7 3264 c.2801A>G c.(2800-2802)TAT>TGT p.Y934C KIAA0232_uc003gjq.3_Missense_Mutation_p.Y934C NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 934 ATP binding ovary(2) 2 GGAGGAGTTTATGGAGAACTC 0.443 NA 10 37 0 0 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519214 84519214 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:84519214A>T uc003how.2 + 11 1225 c.1007A>T c.(1006-1008)CAG>CTG p.Q336L AGPAT9_uc003hox.2_Missense_Mutation_p.Q336L|AGPAT9_uc003hoy.2_Missense_Mutation_p.Q336L NM_032717 NP_116106 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 336 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity skin(1) 1 Hepatocellular(203;0.114) TATAACCCTCAGTTCGGTGAT 0.433 NA 16 53 0 0 0 0 UNC5C 8633 broad.mit.edu 37 4 96222757 96222757 + Missense_Mutation SNP A A T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:96222757A>T uc003htp.1 - 3 644 c.490T>A c.(490-492)TAT>AAT p.Y164N UNC5C_uc010ilc.1_Missense_Mutation_p.Y164N|UNC5C_uc003htq.2_Missense_Mutation_p.Y164N NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 164 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AATGACTCACATGCAATGCGC 0.483 NA 13 60 0 0 0 0 C4orf31 79625 broad.mit.edu 37 4 121958534 121958534 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:121958534G>T uc003idq.1 - 4 1119 c.592C>A c.(592-594)CCA>ACA p.P198T NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 198 0 GTGGGGCTTGGTTTCCAGGCC 0.493 NA 16 115 3.33e-07 1.35e-06 1 0 TNIP3 79931 broad.mit.edu 37 4 122063056 122063056 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:122063056G>T uc010ing.2 - 9 996 c.800C>A c.(799-801)CCC>CAC p.P267H TNIP3_uc010inh.2_Missense_Mutation_p.P267H|TNIP3_uc011cgj.1_Missense_Mutation_p.P325H NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 267 ovary(1) 1 GCAGTTACAGGGTGGGCAATA 0.507 NA 7 40 7.48e-07 3.02e-06 1 0 PLK4 10733 broad.mit.edu 37 4 128814677 128814677 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr4:128814677A>G uc003ifo.2 + 12 2577 c.2332A>G c.(2332-2334)ATT>GTT p.I778V PLK4_uc011cgs.1_Missense_Mutation_p.I746V|PLK4_uc011cgt.1_Missense_Mutation_p.I737V NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 778 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GGGTCATCGTATTTGTTTAGC 0.338 NA 11 50 0 0 0 0 ROPN1L 83853 broad.mit.edu 37 5 10448390 10448390 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:10448390G>A uc003jex.3 + 2 421 c.150G>A c.(148-150)TCG>TCA p.S50S NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 50 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CAGCTCTGTCGAGAGGAGATC 0.423 NA 24 48 0 0 0 0 LIFR 3977 broad.mit.edu 37 5 38493875 38493875 + Missense_Mutation SNP A A G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:38493875A>G uc010ive.1 - 14 2230 c.1898T>C c.(1897-1899)ATA>ACA p.I633T LIFR_uc003jli.2_Missense_Mutation_p.I633T NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 633 Fibronectin type-III 5.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) AACTTGTTCTATTTTGAGATC 0.383 NA T PLAG1 salivary adenoma 20 34 0 0 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517214 140517214 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:140517214G>C uc003liq.2 + 1 2415 c.2198G>C c.(2197-2199)GGG>GCG p.G733A NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 733 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTTTCCAGGGCATCTGGTG 0.652 NA 56 79 0 0 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040903 147040903 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr5:147040903C>T uc003loq.1 - 3 617 c.235G>A c.(235-237)GAG>AAG p.E79K JAKMIP2_uc011dbx.1_Missense_Mutation_p.E37K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E79K|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.E79K NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 79 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTTCTCCTCATGGAGCTTG 0.517 NA 64 65 0 0 0 0 C6orf10 10665 broad.mit.edu 37 6 32337718 32337718 + Missense_Mutation SNP A A C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:32337718A>C uc011dpy.1 - 2 229 c.56T>G c.(55-57)ATC>AGC p.I19S C6orf10_uc011dpz.1_Missense_Mutation_p.I19S NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 19 Helical; (Potential). integral to membrane skin(1) 1 AATAGCCAGGATGGCAAGTCC 0.403 NA 64 102 0 0 0 0 PHF3 23469 broad.mit.edu 37 6 64422440 64422440 + Silent SNP T T A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:64422440T>A uc003pep.1 + 15 4982 c.4956T>A c.(4954-4956)CCT>CCA p.P1652P PHF3_uc003pen.2_Silent_p.P1564P|PHF3_uc011dxs.1_Silent_p.P921P NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1652 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAGGGATCCTAGGCAAGCAG 0.453 NA 10 27 0 0 0 0 SIM1 6492 broad.mit.edu 37 6 100838366 100838366 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:100838366G>T uc003pqj.3 - 11 2379 c.2172C>A c.(2170-2172)AGC>AGA p.S724R SIM1_uc010kcu.2_Missense_Mutation_p.S724R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 724 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) TAATGGTTTCGCTGTCATATA 0.463 NA 17 83 0.000566183 0.00220157 1 0 GPR126 57211 broad.mit.edu 37 6 142718817 142718817 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:142718817C>G uc010khc.2 + 10 1903 c.1492C>G c.(1492-1494)CAG>GAG p.Q498E GPR126_uc010khd.2_Missense_Mutation_p.Q470E|GPR126_uc010khe.2_Missense_Mutation_p.Q498E|GPR126_uc010khf.2_Missense_Mutation_p.Q470E NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 498 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAAAATCATTCAGCAGAAGCT 0.373 NA 5 36 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152757214 152757214 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:152757214C>T uc010kiw.2 - 33 4774 c.4172G>A c.(4171-4173)AGT>AAT p.S1391N SYNE1_uc003qot.3_Missense_Mutation_p.S1398N|SYNE1_uc003qou.3_Missense_Mutation_p.S1391N|SYNE1_uc010kjb.1_Missense_Mutation_p.S1374N|SYNE1_uc003qow.2_Missense_Mutation_p.S686N|SYNE1_uc003qox.1_Missense_Mutation_p.S907N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1391 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GACTGCAATACTTTCTGTCCG 0.398 NA HNSCC(10;0.0054) 7 47 0 0 0 0 SYNJ2 8871 broad.mit.edu 37 6 158516842 158516842 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr6:158516842C>T uc003qqx.1 + 27 4012 c.3937C>T c.(3937-3939)CCT>TCT p.P1313S SYNJ2_uc003qqy.1_Missense_Mutation_p.P1026S|SYNJ2_uc003qqz.1_Missense_Mutation_p.P930S|SYNJ2_uc003qra.1_Missense_Mutation_p.P656S|SYNJ2_uc010kjp.1_Missense_Mutation_p.P196S NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 1313 Catalytic (By similarity).|Pro-rich. 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) CGAAGCCCCTCCTGGGGCAGG 0.632 NA 6 56 0 0 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119474 83119474 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:83119474C>G uc003uhy.1 - 2 698 c.232G>C c.(232-234)GTA>CTA p.V78L NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 78 Sema. axon guidance extracellular space|membrane receptor activity p.V78V(1) ovary(3) 3 Medulloblastoma(109;0.109) AGGGAATATACAAGGTCCCTG 0.413 NA 8 45 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100682562 100682562 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:100682562G>T uc003uxp.1 + 3 7918 c.7865G>T c.(7864-7866)AGC>ATC p.S2622I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2622 Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AAAGATACCAGCATGCCAATC 0.453 NA 75 310 1.79e-35 8.03e-35 1 0 C7orf60 154743 broad.mit.edu 37 7 112462082 112462082 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr7:112462082T>C uc003vgo.1 - 5 1062 c.935A>G c.(934-936)CAT>CGT p.H312R C7orf60_uc011kms.1_Missense_Mutation_p.H338R NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 312 ovary(2)|skin(1) 3 CAGATGCATATGTGAAAATTT 0.388 NA 10 32 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55539875 55539875 + Missense_Mutation SNP T T C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:55539875T>C uc003xsd.1 + 4 3581 c.3433T>C c.(3433-3435)TTC>CTC p.F1145L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1145 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TATGAATAGCTTCTGTCAAGT 0.408 NA 4 84 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73849904 73849904 + Missense_Mutation SNP G G C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:73849904G>C uc003xzb.2 + 3 2902 c.2314G>C c.(2314-2316)GAG>CAG p.E772Q NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 772 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GCTGGGCACTGAGGTTTCAGC 0.552 NA 23 113 0 0 0 0 TRHR 7201 broad.mit.edu 37 8 110131311 110131311 + Missense_Mutation SNP T T G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:110131311T>G uc003ymz.3 + 2 840 c.824T>G c.(823-825)TTT>TGT p.F275C NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 275 Helical; Name=6; (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GTAATTCTGTTTGCCCTTTTA 0.408 NA 38 375 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113842012 113842012 + Missense_Mutation SNP G G T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:113842012G>T uc003ynu.2 - 12 1921 c.1762C>A c.(1762-1764)CAG>AAG p.Q588K CSMD3_uc003ynt.2_Missense_Mutation_p.Q548K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q484K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 588 Extracellular (Potential).|CUB 3. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAATTTATCTGGATAACCTAG 0.388 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 29 0.000602214 0.00233239 1 0 ZNF572 137209 broad.mit.edu 37 8 125989980 125989980 + Silent SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr8:125989980C>T uc003yrr.2 + 3 1625 c.1470C>T c.(1468-1470)CAC>CAT p.H490H NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 490 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GGAAAATTCACGTAGAAAAGC 0.473 NA HNSCC(60;0.17) 18 183 0 0 0 0 CBWD6 644019 broad.mit.edu 37 9 69238242 69238242 + Missense_Mutation SNP C C T TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr9:69238242C>T uc004afj.3 - 8 756 c.650G>A c.(649-651)AGA>AAA p.R217K CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron NM_001085457 NP_001078926 Q4V339 CBWD6_HUMAN COBW domain containing 6 217 ATP binding 0 AAGTGTCGTTCTTAATTTCTT 0.333 NA 36 53 0 0 0 0 FRMD3 257019 broad.mit.edu 37 9 85863354 85863354 + Missense_Mutation SNP C C G TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr9:85863354C>G uc004ams.1 - 14 1475 c.1273G>C c.(1273-1275)GAA>CAA p.E425Q FRMD3_uc004amr.1_Missense_Mutation_p.E411Q|FRMD3_uc004amq.1_Missense_Mutation_p.E82Q NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 425 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 GGGGGATCTTCATACTCCCGG 0.468 NA 12 37 0 0 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973844 29973844 + Silent SNP G G A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chrX:29973844G>A uc004dby.2 + 11 2506 c.1998G>A c.(1996-1998)TCG>TCA p.S666S NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 666 Cytoplasmic (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 AGACAAAATCGAGCAGGGAGC 0.527 NA 7 7 0 0 0 0 LPAR3 23566 broad.mit.edu 37 1 85331609 85331609 + Frame_Shift_Del DEL G G - TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr1:85331609delG uc001dkl.2 - 1 234 c.195delC c.(193-195)TTCfs p.F65fs LPAR3_uc009wcj.1_Frame_Shift_Del_p.F65fs NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 65 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 ACAGGTAGTAGAAGGGGAAAT 0.393 NA 56 83 --- --- --- --- NA NA NA NA MUDENG 55745 broad.mit.edu 37 14 57741158 57741159 + Frame_Shift_Ins INS - - A TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:57741158_57741159insA uc001xcv.2 + 2 698_699 c.271_272insA c.(271-273)GAAfs p.E91fs MUDENG_uc001xcu.3_Frame_Shift_Ins_p.E91fs|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_5'UTR NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 91 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 GATAGGAGGTGAAGAACTCTGG 0.406 NA 21 45 --- --- --- --- NA NA NA NA JAG2 3714 broad.mit.edu 37 14 105613864 105613864 + Frame_Shift_Del DEL T T - TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr14:105613864delT uc001yqg.2 - 19 2770 c.2366delA c.(2365-2367)AATfs p.N789fs JAG2_uc010axf.2_5'Flank|JAG2_uc001yqf.2_Frame_Shift_Del_p.N193fs|JAG2_uc001yqh.2_Frame_Shift_Del_p.N751fs NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 789 Extracellular (Potential).|EGF-like 15; calcium-binding (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GTCGTTGGTATCTGGTTTGGG 0.652 NA 12 28 --- --- --- --- NA NA NA NA MZF1 7593 broad.mit.edu 37 19 59073795 59073796 + Frame_Shift_Ins INS - - C TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr19:59073795_59073796insC uc002qto.2 - 6 2409_2410 c.1848_1849insG c.(1846-1851)CAGAGGfs p.Q616fs LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Frame_Shift_Ins_p.Q616fs NM_198055 NP_932172 P28698 MZF1_HUMAN zinc finger protein 42 isoform 2 616_617 C2H2-type 9. viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GTGTGTGTCCTCTGATGACGCG 0.663 NA 9 20 --- --- --- --- NA NA NA NA SCARF2 91179 broad.mit.edu 37 22 20781751 20781752 + Frame_Shift_Ins INS - - GGACC TCGA-D6-6823-01A-11D-1912-08 TCGA-D6-6823-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e1f4d8ef-f24a-417b-bf22-c03cdb6b5275 be1499ee-5b0d-4f5e-bac3-c6f6c552f4a6 g.chr22:20781751_20781752insGGACC uc002zsj.1 - 10 1746_1747 c.1641_1642insGGTCC c.(1639-1644)TCCTCTfs p.S547fs SCARF2_uc002zsk.1_Frame_Shift_Ins_p.S542fs NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 542_543 Cytoplasmic (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GAGGCCCGAGAGGACCAGGATG 0.599 NA 9 83 --- --- --- --- NA NA NA NA