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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut PGD 5226 broad.mit.edu 37 1 10468178 10468178 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:10468178G>C uc001arc.2 + 6 590 c.500G>C c.(499-501)GGA>GCA p.G167A PGD_uc001ard.2_Missense_Mutation_p.E86Q|PGD_uc010oak.1_Missense_Mutation_p.G145A|PGD_uc010oal.1_Missense_Mutation_p.G154A NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 167 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|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;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GTGGGAACTGGAGAACCCTGC 0.502 NA 23 113 0 0 0.00278 0 0 VPS13D 55187 broad.mit.edu 37 1 12383832 12383832 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:12383832G>C uc001atv.2 + 35 8126 c.7985G>C c.(7984-7986)TGT>TCT p.C2662S VPS13D_uc001atw.2_Missense_Mutation_p.C2662S|VPS13D_uc001atx.2_Missense_Mutation_p.C1850S|VPS13D_uc001aty.1_Missense_Mutation_p.C400S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2662 UBA. protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTTTTGGCGTGTCAAGGTAAT 0.418 NA 19 47 0 0 0.010504 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268017 21268017 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:21268017G>C uc001bec.2 - 9 1718 c.1462C>G c.(1462-1464)CAA>GAA p.Q488E EIF4G3_uc010odi.1_Missense_Mutation_p.Q92E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q487E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q488E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q487E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q494E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q487E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q488E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q499E NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 488 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TTTAAGTTTTGAGAATCCAAA 0.408 NA 21 112 0 0 0.008871 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947426 37947426 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:37947426G>C uc001cbb.3 + 4 958 c.808G>C c.(808-810)GTC>CTC p.V270L ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 270 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTACTCCTTCGTCAATGACAA 0.607 NA 7 6 0 0 0.001984 0 0 HIVEP3 59269 broad.mit.edu 37 1 42041248 42041248 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:42041248C>A uc001cgz.3 - 5 6387 c.5174G>T c.(5173-5175)GGG>GTG p.G1725V HIVEP3_uc001cha.3_Missense_Mutation_p.G1725V|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1725 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CGCCGGCTCCCCTCTCTGGGA 0.547 NA 35 150 4.65686e-17 5.87728e-17 0.003755 1 0 TIE1 7075 broad.mit.edu 37 1 43772829 43772829 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:43772829C>T uc001ciu.2 + 5 736 c.657C>T c.(655-657)CGC>CGT p.R219R TIE1_uc010okd.1_Silent_p.R219R|TIE1_uc010oke.1_Silent_p.R174R|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Silent_p.R219R NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 219 Extracellular (Potential).|EGF-like 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGCTGGGCGCTGGGGGCCAG 0.637 NA 23 41 0 0 0.004656 0 0 KIAA0467 23334 broad.mit.edu 37 1 43913626 43913626 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:43913626G>C uc001cjk.1 + 53 7312 c.6850G>C c.(6850-6852)GAG>CAG p.E2284Q KIAA0467_uc001cjl.1_Missense_Mutation_p.E272Q NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3183 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGAGAGGCTGAGCGGCACGT 0.572 NA 21 57 0 0 0.008871 0 0 SLC5A9 200010 broad.mit.edu 37 1 48713175 48713175 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:48713175T>C uc001cro.2 + 14 2058 c.2006T>C c.(2005-2007)TTG>TCG p.L669S SLC5A9_uc001crn.2_Missense_Mutation_p.L694S|SLC5A9_uc010omt.1_Missense_Mutation_p.L683S|SLC5A9_uc001crp.2_Missense_Mutation_p.L336S|SLC5A9_uc010omu.1_Missense_Mutation_p.L336S|SLC5A9_uc009vyt.1_RNA NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 669 Helical; (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 GCTGTCCTTTTGCTGGCCATC 0.522 NA 20 30 0 0 0.002299 0 0 MAGOH 4116 broad.mit.edu 37 1 53699287 53699287 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:53699287C>G uc001cvf.1 - 3 273 c.185G>C c.(184-186)AGA>ACA p.R62T MAGOH_uc010ont.1_Intron NM_002370 NP_002361 P61326 MGN_HUMAN mago-nashi homolog 62 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding 0 GTCAATTATTCTCTTCAGTTC 0.418 Colon(150;521 2416 7674 18129) NA 19 146 0 0 0.007413 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54474683 54474683 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:54474683G>A uc001cwm.1 - 6 608 c.590C>T c.(589-591)TCC>TTC p.S197F LDLRAD1_uc010onz.1_3'UTR|LDLRAD1_uc010ooa.1_Missense_Mutation_p.S154F|LDLRAD1_uc009vzn.1_RNA NM_001010978 NP_001010978 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain 197 LDL-receptor class A 3; atypical. integral to membrane receptor activity skin(2)|large_intestine(1) 3 ATACTCATCGGACCAGTCGGA 0.572 NA 20 106 0 0 0.010504 0 0 WDR78 79819 broad.mit.edu 37 1 67327902 67327902 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:67327902C>G uc001dcx.2 - 7 1080 c.1024G>C c.(1024-1026)GAG>CAG p.E342Q WDR78_uc001dcy.2_Missense_Mutation_p.E342Q|WDR78_uc009waw.2_Missense_Mutation_p.E88Q|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 342 ovary(2) 2 CTACTTGACTCAACCACAGAT 0.343 NA 6 30 0 0 0.00308 0 0 C1orf173 127254 broad.mit.edu 37 1 75107024 75107024 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:75107024C>T uc001dgg.2 - 5 654 c.435G>A c.(433-435)CCG>CCA p.P145P NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 145 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCAGTGCTAACGGACTGGAAT 0.428 NA 23 38 0 0 0.00632 0 0 GBP4 115361 broad.mit.edu 37 1 89652196 89652196 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:89652196C>T uc001dnb.2 - 10 1643 c.1527G>A c.(1525-1527)ATG>ATA p.M509I NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 509 Potential. cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) CTGCTTCCTTCATGGCCCGCT 0.483 NA 12 31 0 0 0.001368 0 0 HFM1 164045 broad.mit.edu 37 1 91850784 91850784 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:91850784T>C uc001doa.3 - 6 862 c.762A>G c.(760-762)ACA>ACG p.T254T HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.T254T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 254 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AACCATTTTCTGTTACCTCTG 0.259 NA 6 14 0 0 0.004482 0 0 HIAT1 64645 broad.mit.edu 37 1 100547675 100547675 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:100547675G>A uc001dst.2 + 12 1383 c.1383G>A c.(1381-1383)TGG>TGA p.W461* NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 461 Extracellular (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) CCAGCAGTTGGAGAAAGCACT 0.483 NA 5 37 0 0 0.000602 0 0 AMY2B 280 broad.mit.edu 37 1 104116440 104116440 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:104116440G>T uc001duq.2 + 6 1240 c.624G>T c.(622-624)GGG>GGT p.G208G AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.G208G|AMY2B_uc001dus.1_5'Flank NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 208 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GTGTTGCAGGGTTCAGACTTG 0.433 NA 44 287 1.00776e-21 1.28965e-21 0.00361 1 0 LRIG2 9860 broad.mit.edu 37 1 113638582 113638582 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:113638582A>G uc001edf.1 + 7 1088 c.890A>G c.(889-891)AAT>AGT p.N297S LRIG2_uc009wgn.1_Missense_Mutation_p.N194S NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 297 LRR 10.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GTGAGCCAGAATGCTATTGAA 0.448 NA 5 35 0 0 0.000602 0 0 AMPD1 270 broad.mit.edu 37 1 115215835 115215835 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:115215835A>G uc001efe.1 - 16 2228 c.2144T>C c.(2143-2145)ATC>ACC p.I715T DENND2C_uc001eez.2_5'Flank|AMPD1_uc001eff.1_Missense_Mutation_p.I711T NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 715 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TGTCCTCCGGATATCATTTCC 0.413 NA 11 33 0 0 0.008291 0 0 SYCP1 6847 broad.mit.edu 37 1 115428757 115428757 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:115428757G>T uc001efr.2 + 14 1226 c.1017G>T c.(1015-1017)AAG>AAT p.K339N SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.K339N|SYCP1_uc009wgw.2_Missense_Mutation_p.K339N NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 339 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCAAAAGGCTTTAGAGG 0.274 NA 5 29 3.59834e-05 3.92741e-05 0.001168 1 0 ANKRD35 148741 broad.mit.edu 37 1 145560150 145560150 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:145560150G>A uc001eob.1 + 8 744 c.636G>A c.(634-636)GCG>GCA p.A212A NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.A55A NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 212 ANK 5. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAGCTGACGCGGGGGCTGTGG 0.607 Melanoma(9;127 754 22988 51047) NA 8 58 0 0 0.00308 0 0 GJA8 2703 broad.mit.edu 37 1 147380719 147380719 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:147380719G>T uc001epu.1 + 2 700 c.637G>T c.(637-639)GCC>TCC p.A213S NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 213 Helical; (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GTTGTCTGTGGCCTCTGTGTC 0.607 Melanoma(76;1255 1795 8195 52096) NA 31 55 1.61788e-16 2.02789e-16 0.012213 1 0 POGZ 23126 broad.mit.edu 37 1 151380974 151380974 + Silent SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:151380974T>A uc001eyd.1 - 14 2451 c.2145A>T c.(2143-2145)GCA>GCT p.A715A POGZ_uc001eye.1_Silent_p.A662A|POGZ_uc010pdb.1_Silent_p.A706A|POGZ_uc001eyf.1_Silent_p.A671A|POGZ_uc010pdc.1_Silent_p.A653A|POGZ_uc009wmv.1_Silent_p.A620A|POGZ_uc010pdd.1_Silent_p.A206A NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 715 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCAGCGGTGCTGCCTCCTGCA 0.567 NA 41 70 0 0 0.005524 0 0 IVL 3713 broad.mit.edu 37 1 152883987 152883987 + Nonsense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:152883987C>T uc001fau.2 + 2 1760 c.1714C>T c.(1714-1716)CAG>TAG p.Q572* NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 572 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGTAGAGCACCAGCAGCAGAA 0.517 NA 19 59 0 0 0.007413 0 0 UBQLN4 56893 broad.mit.edu 37 1 156013886 156013886 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:156013886G>A uc001fna.2 - 6 1053 c.1029C>T c.(1027-1029)CCC>CCT p.P343P UBQLN4_uc010pgx.1_Silent_p.P323P NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 343 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) CACCGGACCCGGGGGCCTGGG 0.687 NA 6 27 0 0 0.001168 0 0 FCRL2 79368 broad.mit.edu 37 1 157740380 157740380 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:157740380G>T uc001fre.2 - 3 188 c.129C>A c.(127-129)AAC>AAA p.N43K FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.N43K|FCRL2_uc009wsp.2_Missense_Mutation_p.N43K|FCRL2_uc010pia.1_Missense_Mutation_p.N43K NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 43 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GAATTTTCCAGTTCTGTTCTC 0.433 NA 21 33 1.15919e-05 1.28047e-05 0.008871 1 0 IFI16 3428 broad.mit.edu 37 1 158984538 158984538 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:158984538G>A uc001ftf.1 + 3 675 c.68G>A c.(67-69)AGA>AAA p.R23K IFI16_uc001ftg.2_Missense_Mutation_p.R23K|IFI16_uc010pis.1_Missense_Mutation_p.R23K NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 23 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TATCATTTTAGAATGGTTAAG 0.308 NA 6 54 0 0 0.001168 0 0 AIM2 9447 broad.mit.edu 37 1 159036039 159036039 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:159036039C>T uc001ftj.1 - 4 722 c.477G>A c.(475-477)CTG>CTA p.L159L NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 159 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) TCTTTGCTTTCAGTACCATAA 0.443 NA 10 96 0 0 0.006214 0 0 AIM2 9447 broad.mit.edu 37 1 159036077 159036077 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:159036077C>G uc001ftj.1 - 4 684 c.439G>C c.(439-441)GAA>CAA p.E147Q NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 147 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) TGAAACCCTTCTCTGATAGAT 0.453 NA 11 87 0 0 0.010729 0 0 APCS 325 broad.mit.edu 37 1 159558225 159558225 + Missense_Mutation SNP G G T rs151221908 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:159558225G>T uc001ftv.2 + 2 495 c.399G>T c.(397-399)TTG>TTT p.L133F NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 133 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.L133L(1) ovary(1)|breast(1) 2 all_hematologic(112;0.0429) GGACACCTTTGGTGAAAAAGG 0.498 NA 12 40 7.93312e-07 8.97997e-07 0.00245 1 0 ATP1A4 480 broad.mit.edu 37 1 160136429 160136429 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:160136429G>A uc001fve.3 + 8 1638 c.1159G>A c.(1159-1161)GGC>AGC p.G387S ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 387 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGACAAGACGGGCACCCTCAC 0.592 NA 51 86 0 0 0.00361 0 0 FAM78B 149297 broad.mit.edu 37 1 166135335 166135335 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:166135335C>T uc001gdr.2 - 2 741 c.151G>A c.(151-153)GCC>ACC p.A51T FAM78B_uc010plc.1_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 51 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CGGGCGGAGGCTTTGAAGTAG 0.627 NA 7 19 0 0 0.00308 0 0 FAM78B 149297 broad.mit.edu 37 1 166135338 166135338 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:166135338T>G uc001gdr.2 - 2 738 c.148A>C c.(148-150)AAA>CAA p.K50Q FAM78B_uc010plc.1_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 50 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GCGGAGGCTTTGAAGTAGGGG 0.622 NA 6 18 0 0 0.001168 0 0 SELP 6403 broad.mit.edu 37 1 169580899 169580899 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:169580899G>T uc001ggi.3 - 7 1043 c.978C>A c.(976-978)CAC>CAA p.H326Q SELP_uc001ggh.2_Missense_Mutation_p.H161Q|SELP_uc009wvr.2_Missense_Mutation_p.H326Q NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 326 Sushi 3.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGGCTTCCAGGTGCTGACACT 0.507 NA 28 74 9.80776e-20 1.2522e-19 0.00632 1 0 KIFAP3 22920 broad.mit.edu 37 1 169953793 169953793 + Silent SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:169953793A>T uc001ggv.2 - 12 1594 c.1323T>A c.(1321-1323)ATT>ATA p.I441I KIFAP3_uc010plx.1_Silent_p.I143I NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 441 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTTCCAAGTCAATTCGTTCAT 0.363 NA 13 28 0 0 0.00245 0 0 METTL13 51603 broad.mit.edu 37 1 171753468 171753468 + Nonsense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:171753468G>T uc001ghz.2 + 2 1089 c.742G>T c.(742-744)GAG>TAG p.E248* METTL13_uc001gia.2_Nonsense_Mutation_p.E162*|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Nonsense_Mutation_p.E247* NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 248 methyltransferase activity|protein binding kidney(1) 1 GGCGGTGCAGGAGCGACAGCA 0.667 NA 18 45 1.02788e-11 1.24297e-11 0.00499 1 0 TNR 7143 broad.mit.edu 37 1 175304935 175304935 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:175304935C>T uc001gkp.1 - 18 3624 c.3543G>A c.(3541-3543)CAG>CAA p.Q1181Q TNR_uc009wwu.1_Silent_p.Q1181Q NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1181 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCTGCCGCCTCTGGAATACCT 0.373 NA 15 75 0 0 0.004007 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526212 176526212 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:176526212G>C uc001gkz.2 + 2 1918 c.754G>C c.(754-756)GAG>CAG p.E252Q PAPPA2_uc001gky.1_Missense_Mutation_p.E252Q|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 252 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCGAGAAGCAGAGACCTTTAA 0.547 NA 18 61 0 0 0.006122 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661345 176661345 + Nonsense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:176661345G>T uc001gkz.2 + 6 3679 c.2515G>T c.(2515-2517)GAA>TAA p.E839* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 839 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GCAGTGGACTGAAAGCAGAAA 0.493 NA 49 149 3.86236e-30 5.10948e-30 0.00361 1 0 FAM5B 57795 broad.mit.edu 37 1 177249638 177249638 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:177249638C>A uc001glf.2 + 8 1638 c.1326C>A c.(1324-1326)AGC>AGA p.S442R FAM5B_uc001glg.2_Missense_Mutation_p.S337R NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 442 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 AGAGCCACAGCTGCACCTGCC 0.602 NA 20 50 9.7654e-05 0.000105122 0.007413 1 0 RASAL2 9462 broad.mit.edu 37 1 178420782 178420782 + Silent SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:178420782G>C uc001glr.2 + 8 1385 c.1260G>C c.(1258-1260)CTG>CTC p.L420L RASAL2_uc001glq.2_Silent_p.L568L|RASAL2_uc009wxc.2_5'Flank NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 420 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CTAGTGAACTGATAGACCATC 0.418 NA 23 94 0 0 0.002299 0 0 CFH 3075 broad.mit.edu 37 1 196716443 196716443 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:196716443G>A uc001gtj.3 + 22 3936 c.3696G>A c.(3694-3696)TAG>TAA p.*1232* NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 1232 complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CAAAAAGATAGAATCAATCAT 0.338 NA 4 24 0 0 0.009096 0 0 CACNA1S 779 broad.mit.edu 37 1 201019618 201019618 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:201019618G>T uc001gvv.2 - 34 4367 c.4140C>A c.(4138-4140)ATC>ATA p.I1380I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1380 Phenylalkylamine binding (By similarity).|IV.|Helical; Name=S6 of repeat IV; (Potential).|Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AATTGTCCATGATGACAGCCA 0.557 NA 14 44 2.48551e-13 3.03907e-13 0.00499 1 0 CR1L 1379 broad.mit.edu 37 1 207868041 207868041 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:207868041T>C uc001hga.3 + 5 928 c.807T>C c.(805-807)CAT>CAC p.H269H CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 269 Sushi 4. cytoplasm|extracellular region|membrane 0 GGCCCTCCCATGTGAAGTGCC 0.498 NA 62 148 0 0 0.00361 0 0 PLXNA2 5362 broad.mit.edu 37 1 208216424 208216424 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:208216424G>A uc001hgz.2 - 21 4757 c.3999C>T c.(3997-3999)CCC>CCT p.P1333P NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1333 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCCGCAGGACGGGGTGGTCCT 0.602 NA 14 41 0 0 0.004007 0 0 EPRS 2058 broad.mit.edu 37 1 220156114 220156114 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:220156114C>G uc001hly.1 - 23 3643 c.3373G>C c.(3373-3375)GTA>CTA p.V1125L NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1125 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CTATTCTCACCTGTTTCACTA 0.413 NA 44 103 0 0 0.00361 0 0 GALNT2 2590 broad.mit.edu 37 1 230372141 230372141 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:230372141C>G uc010pwa.1 + 5 588 c.516C>G c.(514-516)ATC>ATG p.I172M GALNT2_uc010pvy.1_Missense_Mutation_p.I134M|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 172 Lumenal (Potential).|Catalytic subdomain A. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) AAGAAATCATCTTGGTGGATG 0.433 NA 30 52 0 0 0.012213 0 0 DISC1 27185 broad.mit.edu 37 1 231829759 231829759 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:231829759G>T uc001huz.2 + 2 308 c.255G>T c.(253-255)CAG>CAT p.Q85H TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.Q40H|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.Q40H|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.Q74H|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.Q40H|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.Q40H|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.Q74H|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.Q74H|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.Q85H|DISC1_uc010pwp.1_Missense_Mutation_p.Q85H|DISC1_uc010pwq.1_Missense_Mutation_p.Q85H|DISC1_uc010pwr.1_Missense_Mutation_p.Q85H|DISC1_uc010pws.1_Missense_Mutation_p.Q85H|DISC1_uc010pwt.1_Missense_Mutation_p.Q85H|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.Q85H|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.Q85H|DISC1_uc010pxb.1_Missense_Mutation_p.Q85H|DISC1_uc010pxc.1_Missense_Mutation_p.Q85H|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.Q85H|DISC1_uc009xfr.2_Missense_Mutation_p.Q40H|DISC1_uc010pxf.1_Missense_Mutation_p.Q85H|DISC1_uc010pxg.1_Missense_Mutation_p.Q85H|DISC1_uc010pxh.1_Missense_Mutation_p.Q85H|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.Q85H|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.Q85H|DISC1_uc010pwm.1_Missense_Mutation_p.Q85H|DISC1_uc001hux.1_Missense_Mutation_p.Q85H|DISC1_uc001hvc.3_Missense_Mutation_p.Q85H|DISC1_uc010pwn.1_Missense_Mutation_p.Q85H NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 85 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) GGGCCAGACAGTGTGGCCTTG 0.627 NA 12 21 5.50884e-06 6.13459e-06 0.001368 1 0 RYR2 6262 broad.mit.edu 37 1 237580399 237580399 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:237580399G>A uc001hyl.1 + 11 944 c.824G>A c.(823-825)TGG>TAG p.W275* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 275 Cytoplasmic (By similarity).|MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGTTCCCTTTGGAGACTAGAG 0.428 NA 13 43 0 0 0.00245 0 0 FMN2 56776 broad.mit.edu 37 1 240255892 240255893 + Missense_Mutation DNP GG GG TT TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:240255892_240255893GG>TT uc010pyd.1 + 1 708_709 c.483_484GG>TT c.(481-486)GAGGAT>GATTAT p.161_162ED>DY FMN2_uc010pye.1_Missense_Mutation_p.161_162ED>DY NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 161_162 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGATCGCCGAGGATGTGGAAAC 0.644 NA 12 43 0 0 0.004672 0 0 RGS7 6000 broad.mit.edu 37 1 241262007 241262007 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:241262007G>A uc001hyv.2 - 3 464 c.134C>T c.(133-135)ACG>ATG p.T45M RGS7_uc010pyh.1_Missense_Mutation_p.T19M|RGS7_uc010pyj.1_Translation_Start_Site|RGS7_uc001hyu.2_Missense_Mutation_p.T45M|RGS7_uc009xgn.1_Missense_Mutation_p.T45M|RGS7_uc001hyw.2_Missense_Mutation_p.T45M NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 45 DEP. 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) GCTTTTGACCGTACGAATAGG 0.353 NA 3 26 0 0 0.004672 0 0 OR2L2 26246 broad.mit.edu 37 1 248201848 248201848 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:248201848C>A uc001idw.2 + 1 375 c.279C>A c.(277-279)TTC>TTA p.F93L OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ctatctccttcactggatgtg 0.313 NA 51 115 1.19451e-25 1.55769e-25 0.00361 1 0 OR2M4 26245 broad.mit.edu 37 1 248402386 248402386 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:248402386G>A uc010pzh.1 + 1 156 c.156G>A c.(154-156)GAG>GAA p.E52E NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACATAGAGAAACAGCTCC 0.478 NA 33 160 0 0 0.003755 0 0 NET1 10276 broad.mit.edu 37 10 5471146 5471146 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:5471146G>C uc001iia.2 + 3 347 c.209G>C c.(208-210)AGA>ACA p.R70T NET1_uc010qar.1_5'UTR NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 70 Necessary for nuclear localization (By similarity).|Nuclear localization signal (By similarity). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 AGAAAACGCAGAGAGAAAGAT 0.328 NA 8 48 0 0 0.006214 0 0 GPR158 57512 broad.mit.edu 37 10 25465055 25465055 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:25465055C>A uc001isj.2 + 1 766 c.706C>A c.(706-708)CGC>AGC p.R236S LOC100128811_uc010qde.1_5'UTR NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 236 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CCACTTACACCGCCGCGGCCC 0.701 NA 3 6 2.56e-06 2.87411e-06 0.009096 1 0 APBB1IP 54518 broad.mit.edu 37 10 26849724 26849724 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:26849724G>T uc001iss.2 + 13 1641 c.1320G>T c.(1318-1320)TGG>TGT p.W440C NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 440 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CCTCTCGGTGGACAAACTTGG 0.498 NA 8 56 0.000442599 0.000470905 0.006214 1 0 NRP1 8829 broad.mit.edu 37 10 33481304 33481304 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:33481304G>C uc001iwx.3 - 13 2490 c.1967C>G c.(1966-1968)TCT>TGT p.S656C NRP1_uc001iwv.3_Missense_Mutation_p.S656C|NRP1_uc009xlz.2_Missense_Mutation_p.S649C|NRP1_uc001iww.3_Missense_Mutation_p.S468C|NRP1_uc001iwy.3_Missense_Mutation_p.S649C NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 656 Extracellular (Potential).|MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GGTCTTGTGAGAGCCCCAGCC 0.453 Melanoma(104;886 1489 44640 45944 51153) NA 107 191 0 0 0.00361 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37421180 37421180 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:37421180C>A uc001iza.1 + 4 454 c.355C>A c.(355-357)CCA>ACA p.P119T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 175 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TAGCCTCACACCACTTTTACT 0.289 NA 12 28 2.31682e-05 2.53879e-05 0.003163 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343813 38343813 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:38343813G>A uc001izh.2 + 5 936 c.758G>A c.(757-759)AGA>AAA p.R253K ZNF33A_uc001izg.2_Missense_Mutation_p.R254K|ZNF33A_uc010qev.1_Missense_Mutation_p.R260K|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 253 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 GAATTTGGGAGAACTTTGTGT 0.378 NA 11 26 0 0 0.010729 0 0 RET 5979 broad.mit.edu 37 10 43596171 43596171 + Splice_Site SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:43596171G>T uc001jal.2 + 2 527 c.337_splice c.e2+1 p.N113_splice RET_uc001jak.1_Splice_Site_p.N113_splice NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) AGTGTCCGCAGTAAGGGAGCC 0.622 Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 3 4 0.004672 0.0048949 0.004672 1 0 CYP26C1 340665 broad.mit.edu 37 10 94828197 94828197 + Nonsense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:94828197G>T uc010qns.1 + 6 1312 c.1312G>T c.(1312-1314)GAA>TAA p.E438* CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 438 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) CGCAGCGCGCGAAGATTCCCG 0.687 NA 21 19 1.55795e-14 1.92638e-14 0.012319 1 0 CYP2C18 1562 broad.mit.edu 37 10 96484212 96484212 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:96484212A>C uc001kjv.3 + 7 1397 c.1071A>C c.(1069-1071)AGA>AGC p.R357S CYP2C18_uc001kjw.3_Missense_Mutation_p.R298S|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR NM_000772 NP_000763 P33260 CP2CI_HUMAN cytochrome P450 family 2 subfamily C polypeptide 357 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(3)|lung(1)|skin(1) 5 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) AGATCCAGAGATACATTGACC 0.498 NA 90 67 0 0 0.00361 0 0 C10orf12 26148 broad.mit.edu 37 10 98743574 98743574 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:98743574G>A uc001kmv.2 + 1 2534 c.2427G>A c.(2425-2427)ATG>ATA p.M809I NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 809 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCCAGTACATGAAAGTTCAGA 0.453 NA 9 20 0 0 0.006214 0 0 C10orf78 119392 broad.mit.edu 37 10 105883633 105883633 + Silent SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:105883633A>G uc001kxu.2 + 3 310 c.297A>G c.(295-297)CAA>CAG p.Q99Q C10orf78_uc001kxs.2_Silent_p.Q86Q|C10orf78_uc001kxt.2_Silent_p.Q53Q|C10orf78_uc001kxv.2_Silent_p.Q161Q NM_001002759 NP_001002759 Q86XK3 SFR1_HUMAN hypothetical protein LOC119392 isoform a 99 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014) TGGAATTTCAAGAAAGTTTTA 0.328 NA 23 21 0 0 0.012319 0 0 SORCS1 114815 broad.mit.edu 37 10 108459107 108459107 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:108459107C>G uc001kym.2 - 9 1286 c.1278G>C c.(1276-1278)GCG>GCC p.A426A SORCS1_uc001kyl.2_Silent_p.A426A|SORCS1_uc009xxs.2_Silent_p.A426A|SORCS1_uc001kyn.1_Silent_p.A426A|SORCS1_uc001kyo.2_Silent_p.A426A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 426 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATTCTTGGACCGCTGCGAACA 0.478 NA 25 15 0 0 0.008361 0 0 TACC2 10579 broad.mit.edu 37 10 123810054 123810054 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:123810054A>T uc001lfv.2 + 3 495 c.135A>T c.(133-135)AGA>AGT p.R45S TACC2_uc001lfw.2_Missense_Mutation_p.R45S|TACC2_uc009xzx.2_Missense_Mutation_p.R45S|TACC2_uc010qtv.1_Missense_Mutation_p.R45S NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 45 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTGACCACAGAGACGCGTCCA 0.582 NA 19 19 0 0 0.007413 0 0 BTBD16 118663 broad.mit.edu 37 10 124092011 124092011 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:124092011G>T uc001lgc.1 + 13 1398 c.1147G>T c.(1147-1149)GGG>TGG p.G383W BTBD16_uc001lgd.1_Missense_Mutation_p.G382W NM_144587 NP_653188 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 383 skin(1) 1 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TGTGAGATTTGGGCTGCTCTT 0.512 NA 28 28 7.26314e-15 9.04187e-15 0.007291 1 0 ADAM12 8038 broad.mit.edu 37 10 127806654 127806655 + Missense_Mutation DNP CG CG AA TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:127806654_127806655CG>AA uc001ljk.2 - 6 977_978 c.564_565CG>TT c.(562-567)CTCGCT>CTTTCT p.A189S ADAM12_uc010qul.1_Missense_Mutation_p.A186S|ADAM12_uc001ljm.2_Missense_Mutation_p.A189S|ADAM12_uc001ljn.2_Missense_Mutation_p.A186S|ADAM12_uc001ljl.3_Missense_Mutation_p.A186S NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 189 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTCTTTGCAGCGAGGTTTGGTG 0.48 NA 51 73 0 0 0.004672 0 0 MKI67 4288 broad.mit.edu 37 10 129903851 129903851 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:129903851T>C uc001lke.2 - 13 6448 c.6253A>G c.(6253-6255)ACA>GCA p.T2085A MKI67_uc001lkf.2_Missense_Mutation_p.T1725A|MKI67_uc009yav.1_Missense_Mutation_p.T1660A|MKI67_uc009yaw.1_Missense_Mutation_p.T1235A NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2085 16 X 122 AA approximate repeats.|9. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTCTGGTGTCTGGAAGAGC 0.493 NA 6 299 0 0 0.001984 0 0 MUC5B 727897 broad.mit.edu 37 11 1265880 1265880 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:1265880C>G uc009ycr.1 + 48 9810 c.9684C>G c.(9682-9684)ACC>ACG p.T3228T MUC5B_uc001ltb.2_Silent_p.T2593T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2590 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGGGGCCACCGGCTCTGTGG 0.647 NA 73 144 0 0 0.00361 0 0 ART5 116969 broad.mit.edu 37 11 3661095 3661095 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:3661095C>G uc001lyb.1 - 2 957 c.564G>C c.(562-564)AAG>AAC p.K188N ART5_uc001lyc.1_Missense_Mutation_p.K188N|ART5_uc001lyd.2_Missense_Mutation_p.K188N|ART5_uc009yea.2_Missense_Mutation_p.K188N NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 188 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGCCACTGCCTTATCCAGGG 0.582 NA 24 44 0 0 0.004656 0 0 ART1 417 broad.mit.edu 37 11 3681076 3681076 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:3681076C>G uc001lye.1 + 3 428 c.327C>G c.(325-327)GGC>GGG p.G109G ART1_uc009yeb.1_Silent_p.G109G NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 109 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) CACCCCTGGGCTTCCGCGATG 0.682 NA 22 15 0 0 0.002299 0 0 OR51S1 119692 broad.mit.edu 37 11 4870112 4870112 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:4870112C>T uc010qyo.1 - 1 327 c.327G>A c.(325-327)ATG>ATA p.M109I NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATAAAAACCATCTGTAGAA 0.557 NA 28 53 0 0 0.004656 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530072 5530072 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:5530072C>A uc001may.1 - 2 803 c.717G>T c.(715-717)CGG>CGT p.R239R HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 239 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTGAGCACCCGGTCCTGGC 0.478 Ovarian(72;684 1260 12332 41642 52180) NA 18 86 1.67942e-08 1.97008e-08 0.006122 1 0 DCHS1 8642 broad.mit.edu 37 11 6644840 6644840 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:6644840C>T uc001mem.1 - 21 8477 c.8067G>A c.(8065-8067)TTG>TTA p.L2689L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2689 Cadherin 25.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACTGGTGCCAAAGCAAAGT 0.577 NA 3 20 0 0 0.004672 0 0 SYT9 143425 broad.mit.edu 37 11 7324274 7324274 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:7324274C>G uc001mfe.2 + 2 387 c.150C>G c.(148-150)ATC>ATG p.I50M SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 50 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTGCAGATATCTCAGTGAGCC 0.542 NA 25 71 0 0 0.004656 0 0 RIC3 79608 broad.mit.edu 37 11 8158962 8158962 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:8158962C>A uc001mgd.2 - 4 538 c.484G>T c.(484-486)GAA>TAA p.E162* RIC3_uc001mgb.2_5'UTR|RIC3_uc001mgc.2_Nonsense_Mutation_p.E162*|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Nonsense_Mutation_p.E112*|RIC3_uc010rbm.1_Nonsense_Mutation_p.E162*|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron NM_024557 NP_078833 Q7Z5B4 RIC3_HUMAN resistance to inhibitors of cholinesterase 3 162 Potential.|Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane large_intestine(1)|ovary(1)|pancreas(1) 3 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATTAATTTTTCCATGGCTGCT 0.368 NA 14 96 9.31168e-06 1.03275e-05 0.001855 1 0 PDE3B 5140 broad.mit.edu 37 11 14665637 14665637 + Nonsense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:14665637C>T uc001mln.2 + 1 369 c.16C>T c.(16-18)CGA>TGA p.R6* PDE3B_uc001mlm.2_Nonsense_Mutation_p.R6*|PDE3B_uc010rcr.1_Nonsense_Mutation_p.R6*|PSMA1_uc001mll.2_5'Flank NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 6 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 GAGGGACGAGCGAGACGCCAA 0.721 NA 3 9 0 0 0.004672 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725348 26725348 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:26725348A>T uc001mra.2 - 5 985 c.672T>A c.(670-672)CAT>CAA p.H224Q SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.H224Q NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 224 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 ACTCAAATATATGTAGTCGAG 0.358 NA 42 76 0 0 0.007835 0 0 NAT10 55226 broad.mit.edu 37 11 34139952 34139952 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:34139952C>G uc001mvk.2 + 8 926 c.682C>G c.(682-684)CTT>GTT p.L228V NAT10_uc010ren.1_Missense_Mutation_p.L156V NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 228 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GGATGAGAGTCTTGGTCCTTC 0.552 NA 4 23 0 0 0.009096 0 0 TTC17 55761 broad.mit.edu 37 11 43411234 43411234 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:43411234A>C uc001mxi.2 + 3 296 c.282A>C c.(280-282)GAA>GAC p.E94D TTC17_uc001mxh.2_Missense_Mutation_p.E94D|TTC17_uc010rfj.1_Missense_Mutation_p.E37D NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 94 binding ovary(5) 5 TTCACATAGAAGAGAATGAGG 0.383 NA 14 48 0 0 0.003163 0 0 EXT2 2132 broad.mit.edu 37 11 44129289 44129289 + Silent SNP C C T rs149841763 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:44129289C>T uc001mxz.2 + 2 361 c.27C>T c.(25-27)ATC>ATT p.I9I EXT2_uc010rfo.1_Silent_p.I37I|EXT2_uc001mxy.2_Silent_p.I22I|EXT2_uc009ykt.2_Silent_p.I9I|EXT2_uc001mya.2_Silent_p.I42I NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 9 Cytoplasmic (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity p.I9I(1) lung(2)|breast(2)|skin(1) 5 AGTATAATATCCGGGGTCCTG 0.483 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 16 76 0 0 0.004007 0 0 ALX4 60529 broad.mit.edu 37 11 44286517 44286517 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:44286517G>T uc001myb.2 - 4 1227 c.1123C>A c.(1123-1125)CCA>ACA p.P375T NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 375 hair follicle development 0 TTGAGGCCTGGGCTGAGGCTG 0.657 NA 14 49 3.27435e-08 3.77651e-08 0.00245 1 0 MYBPC3 4607 broad.mit.edu 37 11 47356692 47356692 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:47356692T>A uc001nfa.3 - 26 2861 c.2806A>T c.(2806-2808)ACG>TCG p.T936S NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 935 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CGGGCCCCCGTGGGCAGGTCC 0.667 NA 17 29 0 0 0.007413 0 0 OR5J2 282775 broad.mit.edu 37 11 55944574 55944574 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:55944574A>G uc010rjb.1 + 1 481 c.481A>G c.(481-483)ATC>GTC p.I161V NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) AATCCACACAATCAGCTTGAG 0.443 NA 25 30 0 0 0.00333 0 0 ZFP91 80829 broad.mit.edu 37 11 58378469 58378469 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:58378469G>C uc001nmx.3 + 5 832 c.664G>C c.(664-666)GAG>CAG p.E222Q ZFP91_uc001nmy.3_Missense_Mutation_p.E221Q|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 222 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AATCAGTGAAGAGGAGATACC 0.373 NA 11 30 0 0 0.001855 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367924 64367924 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:64367924C>G uc001oam.1 + 8 2118 c.1371C>G c.(1369-1371)AGC>AGG p.S457R SLC22A12_uc001oal.1_Missense_Mutation_p.S236R|SLC22A12_uc009yps.1_Missense_Mutation_p.S423R|SLC22A12_uc001oan.1_Missense_Mutation_p.S349R|SLC22A12_uc009ypt.2_Missense_Mutation_p.S275R NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 457 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 TCTACAGCAGCGAGCTCTTCC 0.677 NA 11 16 0 0 0.001368 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635412 65635412 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:65635412G>C uc001ofy.3 - 10 1284 c.1090C>G c.(1090-1092)CAG>GAG p.Q364E EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.Q364E NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 364 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GAGGTCGCCTGGATCTGGAAC 0.577 NA 14 83 0 0 0.001855 0 0 CTTN 2017 broad.mit.edu 37 11 70279327 70279327 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:70279327G>C uc001opv.3 + 16 1593 c.1387G>C c.(1387-1389)GCC>CCC p.A463P CTTN_uc001opu.2_Missense_Mutation_p.A426P|CTTN_uc001opw.3_Missense_Mutation_p.A426P|CTTN_uc010rqm.1_Missense_Mutation_p.A147P|CTTN_uc001opx.2_Missense_Mutation_p.A147P NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 463 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GCAGGGCCTGGCCTATGCCAC 0.682 NA 11 32 0 0 0.008291 0 0 USP35 57558 broad.mit.edu 37 11 77919914 77919914 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:77919914T>G uc009yva.1 + 9 1743 c.1497T>G c.(1495-1497)ATT>ATG p.I499M USP35_uc001oze.2_Missense_Mutation_p.I255M|USP35_uc001ozc.2_Missense_Mutation_p.I67M|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.I110M|USP35_uc001ozf.2_Missense_Mutation_p.I230M NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 499 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) GGCCTGCCATTTCCCCAGAGA 0.607 NA 172 131 0 0 0.00361 0 0 GAB2 9846 broad.mit.edu 37 11 77991716 77991716 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:77991716C>T uc001ozh.2 - 2 307 c.307G>A c.(307-309)GAG>AAG p.E103K GAB2_uc001ozg.2_Missense_Mutation_p.E65K NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 103 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TTCATGTCCTCTTCTGTCTCA 0.483 NA 34 258 0 0 0.003755 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885504 89885504 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:89885504C>A uc001pdf.3 + 6 757 c.648C>A c.(646-648)ATC>ATA p.I216I NAALAD2_uc009yvx.2_Silent_p.I216I|NAALAD2_uc009yvy.2_Silent_p.I216I|NAALAD2_uc001pdd.2_Silent_p.I216I|NAALAD2_uc001pde.2_Silent_p.I216I NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 216 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TAGGAATCATCTTGTACTCAG 0.438 NA 16 40 1.99824e-07 2.28548e-07 0.00499 1 0 FAT3 120114 broad.mit.edu 37 11 92087809 92087809 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:92087809C>T uc001pdj.3 + 1 2548 c.2531C>T c.(2530-2532)TCA>TTA p.S844L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 844 Cadherin 8.|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) CTTGAAAGTTCAGGCATTGGT 0.398 NA TCGA Ovarian(4;0.039) 21 43 0 0 0.010504 0 0 FAT3 120114 broad.mit.edu 37 11 92534064 92534064 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:92534064G>A uc001pdj.3 + 9 7902 c.7885G>A c.(7885-7887)GAT>AAT p.D2629N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2629 Cadherin 24.|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) AGATCCCGATGATGGAGCAAA 0.502 NA TCGA Ovarian(4;0.039) 5 25 0 0 0.000602 0 0 CNTN5 53942 broad.mit.edu 37 11 100179184 100179184 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:100179184G>A uc001pga.2 + 21 3053 c.2714G>A c.(2713-2715)AGA>AAA p.R905K CNTN5_uc001pfz.2_Missense_Mutation_p.R905K|CNTN5_uc001pgb.2_Missense_Mutation_p.R831K|CNTN5_uc010ruk.1_Missense_Mutation_p.R176K NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 905 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTCTAGGAAGACCACAGGGA 0.428 NA 4 29 0 0 0.009096 0 0 DSCAML1 57453 broad.mit.edu 37 11 117392000 117392000 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:117392000T>G uc001prh.1 - 6 1240 c.1238A>C c.(1237-1239)GAG>GCG p.E413A DSCAML1_uc001pri.1_Missense_Mutation_p.E217A NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 353 Extracellular (Potential).|Ig-like C2-type 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CAGCACCAGCTCCGTGTTGCG 0.627 NA 41 71 0 0 0.006999 0 0 ABCG4 64137 broad.mit.edu 37 11 119029015 119029015 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:119029015G>A uc001pvs.2 + 10 1476 c.1140G>A c.(1138-1140)AGG>AGA p.R380R ABCG4_uc009zar.2_Silent_p.R380R NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 380 Cytoplasmic (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCTTCAAGAGGACCTTCCTGT 0.572 NA 119 239 0 0 0.00361 0 0 OR8D4 338662 broad.mit.edu 37 11 123777258 123777260 + Missense_Mutation TNP GGG GGG TTT TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GGG GGG - - GGG GGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:123777258_123777260GGG>TTT uc010saa.1 + 1 120_122 c.120_122GGG>TTT c.(118-123)GTGGGA>GTTTTA p.G41L NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TTACTGTGGTGGGAAACCTCAGC 0.414 NA 25 98 0 0 0.004672 0 0 OR10S1 219873 broad.mit.edu 37 11 123847664 123847664 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:123847664G>T uc001pzm.1 - 1 735 c.735C>A c.(733-735)GCC>GCA p.A245A NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 245 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCCGGCCCTGGGCTGTGCGGA 0.607 NA 34 68 6.05902e-23 7.84529e-23 0.003755 1 0 OR10G4 390264 broad.mit.edu 37 11 123886650 123886650 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:123886650G>T uc010sac.1 + 1 369 c.369G>T c.(367-369)TTG>TTT p.L123F NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ATCGCTACTTGGCCATCAGTT 0.562 NA 35 151 1.32136e-16 1.66001e-16 0.00874 1 0 ROBO4 54538 broad.mit.edu 37 11 124766430 124766430 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:124766430G>T uc001qbg.2 - 3 677 c.537C>A c.(535-537)GCC>GCA p.A179A ROBO4_uc010sas.1_Silent_p.A34A|ROBO4_uc001qbh.2_Silent_p.A69A|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 179 Ig-like C2-type 2. 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) CGGGCTGGAGGGCCAGGGGTT 0.637 NA 11 120 7.03913e-09 8.27512e-09 0.001368 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130343292 130343292 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:130343292C>G uc010scd.1 + 8 2429 c.2429C>G c.(2428-2430)TCT>TGT p.S810C NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 810 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GACAAGTCCTCTCATCCCAAG 0.657 NA 33 236 0 0 0.004289 0 0 CD163 9332 broad.mit.edu 37 12 7632510 7632510 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:7632510C>A uc001qsz.3 - 16 3554 c.3426G>T c.(3424-3426)AAG>AAT p.K1142N CD163_uc001qta.3_Splice_Site_p.G1115_splice|CD163_uc009zfw.2_Splice_Site_p.G1148_splice NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 1142 Cytoplasmic (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GAATGGCCTCCTTTTCCATTC 0.373 NA 14 38 3.27435e-08 3.77651e-08 0.00245 1 0 FAM90A1 55138 broad.mit.edu 37 12 8374865 8374865 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:8374865G>A uc001qui.2 - 7 1507 c.948C>T c.(946-948)CCC>CCT p.P316P FAM90A1_uc001quh.2_Silent_p.P316P NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 316 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) TGGCGCTTTCGGGGATCTGGA 0.627 NA 13 61 0 0 0.001368 0 0 TM7SF3 51768 broad.mit.edu 37 12 27128438 27128438 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:27128438G>A uc010sjl.1 - 11 1679 c.1441C>T c.(1441-1443)CAA>TAA p.Q481* NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 precursor 481 Helical; (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(2) 2 Colorectal(261;0.0847) CCATTAGTTTGAAAAGGCACA 0.418 NA 6 37 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 12 31297876 31297876 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:31297876A>G uc010sjy.1 - 13 1754 c.1754T>C c.(1753-1755)CTT>CCT p.L585P RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA TTTCAGTAGAAGGACGTTCCC 0.483 NA 31 106 0 0 0.009535 0 0 ALG10B 144245 broad.mit.edu 37 12 38714725 38714725 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:38714725A>G uc001rln.3 + 3 1271 c.1132A>G c.(1132-1134)ATA>GTA p.I378V ALG10B_uc001rlo.3_Missense_Mutation_p.I348V|ALG10B_uc010skk.1_Missense_Mutation_p.I318V NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 378 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TCCAGCCTATATATTTGCTGG 0.303 NA 13 64 0 0 0.00245 0 0 WNT10B 7480 broad.mit.edu 37 12 49361889 49361889 + Nonsense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:49361889G>C uc001rss.2 - 4 897 c.551C>G c.(550-552)TCA>TGA p.S184* WNT10B_uc001rst.2_Intron NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 184 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 gctggggcttgagccagggcc 0.458 NA 21 29 0 0 0.00278 0 0 MLL2 8085 broad.mit.edu 37 12 49434560 49434560 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:49434560C>A uc001rta.3 - 31 6993 c.6993G>T c.(6991-6993)CTG>CTT p.L2331L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2331 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCGAGGGGTCAGGGGGGCTT 0.637 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 16 21 6.94344e-10 8.28685e-10 0.006122 1 0 FIGNL2 401720 broad.mit.edu 37 12 52215995 52215995 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:52215995G>C uc001rzc.2 - 1 214 c.203C>G c.(202-204)TCT>TGT p.S68C NM_001013690 NP_001013712 A6NMB9 FIGL2_HUMAN fidgetin-like 2 68 ATP binding|nucleoside-triphosphatase activity 0 BRCA - Breast invasive adenocarcinoma(357;0.135) CAAGACCCCAGAGTACTTCTC 0.652 NA 6 14 0 0 0.001168 0 0 SLC26A10 65012 broad.mit.edu 37 12 58015561 58015561 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:58015561T>A uc001spe.2 + 4 955 c.644T>A c.(643-645)GTC>GAC p.V215D SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_5'Flank NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 215 integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) CTCGTGCCGGTCAAGGAATTG 0.692 NA OREG0021948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 17 0 0 0.006214 0 0 MGAT4C 25834 broad.mit.edu 37 12 86374139 86374139 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:86374139G>A uc001tai.3 - 8 1615 c.365C>T c.(364-366)TCA>TTA p.S122L MGAT4C_uc001tal.3_Missense_Mutation_p.S122L|MGAT4C_uc001taj.3_Missense_Mutation_p.S122L|MGAT4C_uc001tak.3_Missense_Mutation_p.S122L|MGAT4C_uc010sum.1_Missense_Mutation_p.S146L|MGAT4C_uc001tah.3_Missense_Mutation_p.S122L NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 122 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CTCAAAAATTGACTTAATTGT 0.373 NA 14 33 0 0 0.00245 0 0 RAD9B 144715 broad.mit.edu 37 12 110944491 110944491 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:110944491C>T uc001trf.3 + 4 519 c.381C>T c.(379-381)TAC>TAT p.Y127Y RAD9B_uc001trg.3_Silent_p.Y127Y|RAD9B_uc010sya.1_Silent_p.Y127Y|RAD9B_uc001tre.3_Silent_p.Y55Y|RAD9B_uc001trd.3_5'UTR NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN RAD9 homolog B 124 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding pancreas(1)|skin(1) 2 AATTCTTCTACAGACATGGTA 0.299 NA 15 64 0 0 0.00245 0 0 SLC24A6 80024 broad.mit.edu 37 12 113748059 113748059 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:113748059G>A uc001tvc.2 - 12 1447 c.1237C>T c.(1237-1239)CAG>TAG p.Q413* SLC24A6_uc001tuz.2_Nonsense_Mutation_p.Q118*|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Nonsense_Mutation_p.Q151* NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 413 Extracellular (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 CTGGGGGGCTGGCTGTCAGAT 0.592 NA 7 33 0 0 0.004482 0 0 ABCB9 23457 broad.mit.edu 37 12 123419844 123419844 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:123419844C>T uc001udm.3 - 10 2188 c.1878G>A c.(1876-1878)ATG>ATA p.M626I ABCB9_uc010tai.1_Missense_Mutation_p.M233I|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.M583I|ABCB9_uc010taj.1_Missense_Mutation_p.M563I|ABCB9_uc001udp.2_Missense_Mutation_p.M626I|ABCB9_uc001udq.2_Missense_Mutation_p.M345I NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 626 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCTGGAGTTCCATGATGAAGC 0.617 Ovarian(49;786 1333 9175 38236) NA 4 14 0 0 0.009096 0 0 DNAH10 196385 broad.mit.edu 37 12 124397651 124397651 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr12:124397651A>T uc001uft.3 + 59 9812 c.9787A>T c.(9787-9789)AGG>TGG p.R3263W NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3263 Potential.|Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTAGGTGGCCAGGCTGGAGCG 0.498 NA 5 13 0 0 0.000602 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748132 19748132 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:19748132G>A uc009zzj.2 - 5 1273 c.1224C>T c.(1222-1224)TAC>TAT p.Y408Y NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 408 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CTTCTCCCACGTACCAGTGCA 0.602 NA 56 127 0 0 0.00361 0 0 ATP12A 479 broad.mit.edu 37 13 25262552 25262552 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:25262552C>G uc001upp.2 + 4 511 c.324C>G c.(322-324)CTC>CTG p.L108L ATP12A_uc010aaa.2_Silent_p.L108L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 108 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TCAAGTTCCTCAAGCAGATGG 0.607 Pancreas(156;1582 1935 18898 22665 26498) NA 58 284 0 0 0.00361 0 0 FRY 10129 broad.mit.edu 37 13 32749689 32749689 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:32749689G>A uc001utx.2 + 20 2837 c.2341G>A c.(2341-2343)GAC>AAC p.D781N FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 781 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACAGGATGACGACAGGCCGAT 0.453 NA 22 38 0 0 0.00278 0 0 C13orf36 400120 broad.mit.edu 37 13 37269436 37269436 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:37269436C>T uc001uvt.3 + 2 667 c.221C>T c.(220-222)TCC>TTC p.S74F NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 74 Poly-Ser. integral to membrane skin(1) 1 TCCTCCAGTTCCTCCTACCCA 0.448 NA 26 106 0 0 0.00333 0 0 SUCLA2 8803 broad.mit.edu 37 13 48528386 48528386 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:48528386C>A uc001vbs.2 - 8 1053 c.996G>T c.(994-996)ATG>ATT p.M332I SUCLA2_uc010tgb.1_Missense_Mutation_p.M272I|SUCLA2_uc010tgc.1_Missense_Mutation_p.M198I|SUCLA2_uc010tgd.1_Missense_Mutation_p.M272I|SUCLA2_uc001vbt.1_RNA NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 332 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TTATTATATCCATTGTGGCCA 0.368 NA 11 50 3.27435e-08 3.77651e-08 0.00245 1 0 PCDH17 27253 broad.mit.edu 37 13 58208714 58208714 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:58208714G>C uc001vhq.1 + 1 2926 c.2034G>C c.(2032-2034)AAG>AAC p.K678N PCDH17_uc010aec.1_Missense_Mutation_p.K678N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 678 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTGGCCAAGCTCATCATCC 0.652 Melanoma(72;952 1291 1619 12849 33676) NA 33 78 0 0 0.002836 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369241 86369241 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:86369241T>C uc001vll.1 - 2 1862 c.1403A>G c.(1402-1404)AAC>AGC p.N468S SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 468 Extracellular (Potential).|LRR 10. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GAGGAGGTTGTTATTTAAATA 0.333 NA 15 60 0 0 0.00245 0 0 SLC15A1 6564 broad.mit.edu 37 13 99340768 99340768 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:99340768G>A uc001vno.2 - 19 1607 c.1530C>T c.(1528-1530)ATC>ATT p.I510I NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 510 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TGTAGCTGCTGATGTTTGCAT 0.368 NA 11 35 0 0 0.008291 0 0 NALCN 259232 broad.mit.edu 37 13 101763510 101763510 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:101763510G>A uc001vox.1 - 19 2449 c.2260C>T c.(2260-2262)CTC>TTC p.L754F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 754 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCACGCTGAGGATTGACCTC 0.512 NA 33 147 0 0 0.004878 0 0 COL4A2 1284 broad.mit.edu 37 13 111114675 111114675 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr13:111114675G>A uc001vqx.2 + 24 2009 c.1720G>A c.(1720-1722)GAT>AAT p.D574N NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 574 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GAAAGGTGACGATGGCAGCCC 0.642 NA 14 42 0 0 0.004007 0 0 OR4E2 26686 broad.mit.edu 37 14 22133935 22133935 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:22133935C>G uc010tmd.1 + 1 639 c.639C>G c.(637-639)GCC>GCG p.A213A NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GTTTCTTGGCCGTGGTCACCT 0.512 NA 26 39 0 0 0.00632 0 0 C14orf93 60686 broad.mit.edu 37 14 23465468 23465468 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:23465468C>T uc001wib.1 - 3 917 c.607G>A c.(607-609)GAT>AAT p.D203N C14orf93_uc001wic.1_Missense_Mutation_p.D23N|C14orf93_uc001wid.1_Missense_Mutation_p.D203N|C14orf93_uc001wig.2_Missense_Mutation_p.D203N|C14orf93_uc001wih.2_Missense_Mutation_p.D203N|C14orf93_uc001wie.2_Missense_Mutation_p.D203N|C14orf93_uc001wia.3_Missense_Mutation_p.D203N|C14orf93_uc001wif.2_Missense_Mutation_p.D23N NM_021944 NP_068763 Q9H972 CN093_HUMAN hypothetical protein LOC60686 precursor 203 extracellular region ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) GCCACGTAATCATCCACCAGC 0.493 NA 22 26 0 0 0.00278 0 0 LRRC16B 90668 broad.mit.edu 37 14 24528901 24528901 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:24528901T>G uc001wlj.2 + 22 1985 c.1828T>G c.(1828-1830)TCT>GCT p.S610A LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 610 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GAACAATACATCTGCCCTGGG 0.597 NA 9 14 0 0 0.006214 0 0 NOVA1 4857 broad.mit.edu 37 14 26949326 26949326 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:26949326T>A uc001wpy.2 - 3 622 c.304A>T c.(304-306)ATC>TTC p.I102F NOVA1_uc001wpz.2_Missense_Mutation_p.I102F|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.I102F NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 105 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GTTCCCTGGATCAAGCACACT 0.378 NA 21 24 0 0 0.010504 0 0 STRN3 29966 broad.mit.edu 37 14 31416332 31416332 + Missense_Mutation SNP C C A rs145004284 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:31416332C>A uc001wqu.2 - 5 896 c.680G>T c.(679-681)GGT>GTT p.G227V STRN3_uc001wqv.2_Missense_Mutation_p.G227V|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 227 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) AGGAGATTCACCTCCATTCAG 0.328 NA 14 31 2.61681e-11 3.15051e-11 0.00245 1 0 C14orf28 122525 broad.mit.edu 37 14 45369754 45369754 + Missense_Mutation SNP G G T rs146051011 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:45369754G>T uc001wvo.2 + 2 382 c.116G>T c.(115-117)CGC>CTC p.R39L C14orf28_uc001wvp.1_Missense_Mutation_p.R39L NM_001017923 NP_001017923 Q4W4Y0 CN028_HUMAN hypothetical protein LOC122525 39 ovary(1) 1 AAAGCTGGCCGCAAAGCAGTA 0.363 NA 16 20 2.31682e-05 2.53879e-05 0.003163 1 0 FAM179B 23116 broad.mit.edu 37 14 45465012 45465012 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:45465012G>A uc001wvv.2 + 2 2319 c.2110G>A c.(2110-2112)GAT>AAT p.D704N FAM179B_uc001wvw.2_Missense_Mutation_p.D704N|FAM179B_uc010anc.2_RNA|FAM179B_uc010anb.1_Missense_Mutation_p.D704N|FAM179B_uc001wvu.2_Missense_Mutation_p.D704N NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 704 binding skin(2)|upper_aerodigestive_tract(1) 3 GCCAGTCAATGATGATTTATG 0.318 NA 11 14 0 0 0.001855 0 0 C14orf104 55172 broad.mit.edu 37 14 50100361 50100361 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:50100361C>A uc001wws.3 - 1 1588 c.1507G>T c.(1507-1509)GGC>TGC p.G503C SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.G503C NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 503 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) GAGCGCTGGCCGCCCGTGCCC 0.622 NA Kartagener_syndrome 5 19 0.00116845 0.00123361 0.001168 1 0 KLHDC2 23588 broad.mit.edu 37 14 50245145 50245146 + Missense_Mutation DNP GA GA TT TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:50245145_50245146GA>TT uc001wwx.2 + 6 966_967 c.566_567GA>TT c.(565-567)AGA>ATT p.R189I SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R189I|KLHDC2_uc010anp.2_Missense_Mutation_p.R189I NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 189 Kelch 3. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) AGTCATCCAAGAGGATGGAATG 0.322 NA 14 18 0 0 0.004672 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50266231 50266231 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:50266231T>C uc001wxc.2 - 25 2495 c.2427A>G c.(2425-2427)AAA>AAG p.K809K SDCCAG1_uc010anj.1_Silent_p.K809K|SDCCAG1_uc001wwz.2_5'UTR|SDCCAG1_uc001wxa.2_Silent_p.K89K|SDCCAG1_uc010tqi.1_Silent_p.K788K|SDCCAG1_uc001wxe.2_Silent_p.K767K|SDCCAG1_uc001wxd.1_Silent_p.K214K NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 809 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) GGCTCTGTGATTTACTGTCAC 0.299 NA 35 39 0 0 0.004878 0 0 MUDENG 55745 broad.mit.edu 37 14 57741544 57741544 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:57741544C>T uc001xcv.2 + 2 1084 c.657C>T c.(655-657)TCC>TCT p.S219S MUDENG_uc001xcu.3_Silent_p.S219S|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Silent_p.S116S NM_018229 NP_060699 Q9H0R1 MUDEN_HUMAN Mu-2 related death-inducing protein 219 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ovary(1) 1 AGGTAAAATCCATGCAATATG 0.393 NA 20 29 0 0 0.012319 0 0 SYNE2 23224 broad.mit.edu 37 14 64494420 64494420 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:64494420A>T uc001xgm.2 + 43 6853 c.6623A>T c.(6622-6624)TAC>TTC p.Y2208F SYNE2_uc001xgl.2_Missense_Mutation_p.Y2208F NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2208 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGGAAACTACCTCTTGGAG 0.418 NA 15 20 0 0 0.003163 0 0 LTBP2 4053 broad.mit.edu 37 14 74970292 74970292 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:74970292C>T uc001xqa.2 - 32 4987 c.4600G>A c.(4600-4602)GAC>AAC p.D1534N NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1534 EGF-like 18; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CAGGCCAGGTCCTGGCACTCA 0.622 NA 6 7 0 0 0.001168 0 0 PROX2 283571 broad.mit.edu 37 14 75329988 75329988 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:75329988G>A uc001xqr.1 - 1 550 c.550C>T c.(550-552)CGC>TGC p.R184C PROX2_uc001xqq.1_Missense_Mutation_p.R110C NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 184 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) ACCCAGGGGCGAGGCCCACAG 0.617 NA 9 32 0 0 0.008291 0 0 TTC8 123016 broad.mit.edu 37 14 89291101 89291101 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:89291101G>T uc010ath.2 + 1 184 c.50G>T c.(49-51)CGC>CTC p.R17L TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.R17L|TTC8_uc010atj.2_Missense_Mutation_p.R17L|TTC8_uc001xxi.2_Missense_Mutation_p.R17L|TTC8_uc001xxj.2_Missense_Mutation_p.R17L|TTC8_uc001xxk.2_Missense_Mutation_p.R17L NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 17 TPR 1. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 TATTTTAGGCGCAGGAAGTTC 0.642 NA Bardet-Biedl_syndrome 5 10 3.59834e-05 3.92741e-05 0.001168 1 0 C14orf159 80017 broad.mit.edu 37 14 91633606 91633606 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:91633606C>T uc001xzb.2 + 6 909 c.141C>T c.(139-141)TCC>TCT p.S47S C14orf159_uc010atu.1_Silent_p.S47S|C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Silent_p.S47S|C14orf159_uc001xyx.2_Silent_p.S47S|C14orf159_uc001xyw.2_Silent_p.S47S|C14orf159_uc001xzc.2_Silent_p.S47S|C14orf159_uc001xza.2_Silent_p.S47S|C14orf159_uc001xyv.2_Silent_p.S47S|C14orf159_uc001xyz.2_Intron|C14orf159_uc010twj.1_Silent_p.S47S|C14orf159_uc001xze.2_Silent_p.S47S NM_001102366 NP_001095836 Q7Z3D6 CN159_HUMAN hypothetical protein LOC80017 isoform a 47 mitochondrion central_nervous_system(2)|ovary(1) 3 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGCCCAGGTCCCTTGCTCCAG 0.557 NA 65 46 0 0 0.00361 0 0 C14orf129 51527 broad.mit.edu 37 14 96848614 96848614 + Silent SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:96848614A>T uc001yfj.3 + 3 175 c.30A>T c.(28-30)CTA>CTT p.L10L C14orf129_uc001yfl.2_Silent_p.L10L NM_016472 NP_057556 Q9P0R6 GSKIP_HUMAN chromosome 14 open reading frame 129 10 cytoplasm protein binding 0 Melanoma(154;0.226) Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205) CCATGGAGCTAAGCAGTATGT 0.348 NA 19 20 0 0 0.006122 0 0 DLK1 8788 broad.mit.edu 37 14 101195281 101195281 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:101195281C>A uc001yhs.3 + 3 293 c.140C>A c.(139-141)CCT>CAT p.P47H DLK1_uc001yhu.3_Missense_Mutation_p.P47H NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 47 Extracellular (Potential).|EGF-like 1. QP -> HV (in Ref. 1; CAA78163).|Missing (in Ref. 3; CAA35582). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) AGGTGCCAGCCTGGCTGGCAG 0.617 NA 91 109 5.62478e-27 7.36994e-27 0.00361 1 0 KIF26A 26153 broad.mit.edu 37 14 104640602 104640602 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:104640602G>T uc001yos.3 + 11 2148 c.2148G>T c.(2146-2148)GTG>GTT p.V716V NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 716 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) TCAGCACCGTGCAGCTCGCCG 0.697 NA 4 3 0.00024832 0.000265229 0.009096 1 0 AHNAK2 113146 broad.mit.edu 37 14 105417947 105417947 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr14:105417947C>T uc010axc.1 - 7 3961 c.3841G>A c.(3841-3843)GAG>AAG p.E1281K AHNAK2_uc001ypx.2_Missense_Mutation_p.E1181K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1281 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCCGTCACCTCTGCCTTATGA 0.617 NA 103 84 0 0 0.00361 0 0 OR4M2 390538 broad.mit.edu 37 15 22368926 22368926 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:22368926G>A uc010tzu.1 + 1 351 c.351G>A c.(349-351)GTG>GTA p.V117V LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGCTCACAGTGATGGCCTTTG 0.488 NA 73 501 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 15 22440594 22440594 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:22440594C>T uc001yug.2 - 1 272 c.253G>A c.(253-255)GCA>ACA p.A85T full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA TTATTAGATGCATTGTAGACA 0.473 NA 11 55 0 0 0.001368 0 0 MEIS2 4212 broad.mit.edu 37 15 37184626 37184626 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:37184626C>T uc001zjr.2 - 12 2219 c.1182G>A c.(1180-1182)CAG>CAA p.Q394Q MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.Q374Q|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.Q387Q|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.Q387Q|MEIS2_uc001zjj.2_Silent_p.Q90Q|MEIS2_uc001zjk.2_Silent_p.Q83Q NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 394 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TAGGACCACCCTGAGAAACGT 0.458 NA 121 107 0 0 0.00361 0 0 MEIS2 4212 broad.mit.edu 37 15 37376025 37376025 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:37376025C>A uc001zjr.2 - 7 1738 c.701G>T c.(700-702)GGG>GTG p.G234V MEIS2_uc001zjl.2_Missense_Mutation_p.G221V|MEIS2_uc010ucj.1_Missense_Mutation_p.G221V|MEIS2_uc001zjm.2_Missense_Mutation_p.G146V|MEIS2_uc001zjn.2_Missense_Mutation_p.G88V|MEIS2_uc001zjo.2_Missense_Mutation_p.G234V|MEIS2_uc001zjp.2_Missense_Mutation_p.G234V|MEIS2_uc001zjs.2_Missense_Mutation_p.G234V|MEIS2_uc001zju.2_Missense_Mutation_p.G221V|MEIS2_uc001zjt.2_Missense_Mutation_p.G234V NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 234 Ser/Thr-rich. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) ACTGGAGGGCCCTGGGGTGCC 0.512 NA 36 46 1.15505e-17 1.46448e-17 0.009718 1 0 SPG11 80208 broad.mit.edu 37 15 44955723 44955723 + Silent SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:44955723G>C uc001ztx.2 - 1 154 c.123C>G c.(121-123)CTC>CTG p.L41L SPG11_uc010ueh.1_Silent_p.L41L|SPG11_uc010uei.1_Silent_p.L41L|SPG11_uc001zua.1_Silent_p.L41L NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 41 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCCGGGAGCCGAGCTGCCCCA 0.726 NA 5 11 0 0 0.000602 0 0 SLC24A5 283652 broad.mit.edu 37 15 48413264 48413264 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:48413264C>T uc001zwe.2 + 1 96 c.23C>T c.(22-24)ACA>ATA p.T8I SLC24A5_uc001zwd.2_Missense_Mutation_p.T8I|SLC24A5_uc010bel.2_Missense_Mutation_p.T8I NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 8 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GGGGGCCAAACATGGGCGAGA 0.572 NA 4 16 0 0 0.009096 0 0 USP8 9101 broad.mit.edu 37 15 50773724 50773724 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:50773724G>C uc001zym.3 + 12 1765 c.1265G>C c.(1264-1266)AGA>ACA p.R422T USP8_uc001zyk.1_Missense_Mutation_p.R123T|USP8_uc001zyl.3_Missense_Mutation_p.R422T|USP8_uc001zyn.3_Missense_Mutation_p.R422T|USP8_uc010ufh.1_Missense_Mutation_p.R345T|USP8_uc010bev.1_Missense_Mutation_p.R51T NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 422 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) GAAGAGCATAGAATAAAATCT 0.378 NA 9 26 0 0 0.004482 0 0 WDR72 256764 broad.mit.edu 37 15 53992079 53992079 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:53992079C>T uc002acj.2 - 13 1675 c.1633G>A c.(1633-1635)GAG>AAG p.E545K WDR72_uc010bfi.1_Missense_Mutation_p.E545K NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 545 WD 7. lung(1)|skin(1) 2 all cancers(107;0.0511) CTCTTTCCCTCAAGGTGAAGG 0.453 NA 77 64 0 0 0.00361 0 0 HOMER2 9455 broad.mit.edu 37 15 83561536 83561536 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr15:83561536C>T uc002bjg.2 - 2 249 c.63G>A c.(61-63)AAG>AAA p.K21K HOMER2_uc002bjh.2_Silent_p.K21K|HOMER2_uc002bjj.2_Silent_p.K21K|HOMER2_uc002bji.2_Silent_p.K21K NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 21 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 TCCAGTTCTTCTTGGTGTTGG 0.522 NA 18 113 0 0 0.00499 0 0 CASKIN1 57524 broad.mit.edu 37 16 2233834 2233834 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:2233834C>T uc010bsg.1 - 15 1557 c.1525G>A c.(1525-1527)GAG>AAG p.E509K NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 509 SAM 1. signal transduction cytoplasm skin(2) 2 AAGCTCACCTCGGGAGTCATG 0.667 NA 12 54 0 0 0.010729 0 0 BTBD12 84464 broad.mit.edu 37 16 3634838 3634838 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:3634838T>G uc002cvp.2 - 13 5298 c.4671A>C c.(4669-4671)AAA>AAC p.K1557N NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1557 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TTATGGGCACTTTGGGGGGCA 0.502 NA Direct_reversal_of_damage|Homologous_recombination FanconAnemia 101 82 0 0 0.00361 0 0 TEKT5 146279 broad.mit.edu 37 16 10769983 10769983 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:10769983G>C uc002czz.1 - 5 991 c.919C>G c.(919-921)CAG>GAG p.Q307E NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 307 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 CGCATGTTCTGAGAGTGTTTG 0.517 NA 11 46 0 0 0.001855 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576009 20576009 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:20576009G>T uc002dhj.3 - 3 369 c.159C>A c.(157-159)CAC>CAA p.H53Q ACSM2B_uc002dhk.3_Missense_Mutation_p.H53Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.H53Q NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 53 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TGTCAGCCCAGTGATCCAACA 0.413 NA 18 9 2.39556e-15 2.98901e-15 0.00278 1 0 PLK1 5347 broad.mit.edu 37 16 23690396 23690396 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:23690396G>A uc002dlz.1 + 1 196 c.143G>A c.(142-144)CGC>CAC p.R48H NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 48 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) GTGGACCCACGCAGCCGGCGG 0.697 Colon(12;240 564 27038 33155) NA 11 11 0 0 0.001368 0 0 GTF3C1 2975 broad.mit.edu 37 16 27506568 27506568 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:27506568T>C uc002dov.1 - 15 2636 c.2596A>G c.(2596-2598)ACC>GCC p.T866A GTF3C1_uc002dou.2_Missense_Mutation_p.T866A NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 866 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCCTCCCAGGTGACACCATCT 0.642 NA 35 48 0 0 0.003271 0 0 SH2B1 25970 broad.mit.edu 37 16 28878713 28878713 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:28878713C>A uc002dri.2 + 5 1440 c.1001C>A c.(1000-1002)GCC>GAC p.A334D uc010vct.1_Intron|SH2B1_uc010vdc.1_Missense_Mutation_p.A24D|SH2B1_uc002drj.2_Missense_Mutation_p.A334D|SH2B1_uc002drk.2_Missense_Mutation_p.A334D|SH2B1_uc002drl.2_Missense_Mutation_p.A334D|SH2B1_uc010vdd.1_5'UTR|SH2B1_uc010vde.1_Missense_Mutation_p.A334D|SH2B1_uc002drm.2_Missense_Mutation_p.A334D NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 334 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 ACAACCACAGCCCTGGAGATG 0.552 NA 116 146 1.19196e-58 1.61976e-58 0.00361 1 0 SALL1 6299 broad.mit.edu 37 16 51174068 51174068 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:51174068A>G uc010vgs.1 - 2 2096 c.2065T>C c.(2065-2067)TCC>CCC p.S689P SALL1_uc010vgr.1_Missense_Mutation_p.S592P|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 689 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGAAGCTTGGACGTCTCTGAT 0.542 GBM(103;1352 1446 1855 4775 8890) NA 40 112 0 0 0.007835 0 0 POLR2C 5432 broad.mit.edu 37 16 57503178 57503178 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:57503178C>T uc002elt.1 + 5 446 c.360C>T c.(358-360)CTC>CTT p.L120L POLR2C_uc010vhq.1_Silent_p.L120L NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 120 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 CTCGAGACCTCATCTCCAACA 0.582 NA 9 95 0 0 0.004482 0 0 POLR2C 5432 broad.mit.edu 37 16 57503195 57503195 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:57503195G>A uc002elt.1 + 5 463 c.377G>A c.(376-378)CGG>CAG p.R126Q POLR2C_uc010vhq.1_Missense_Mutation_p.R126Q NM_032940 NP_116558 P19387 RPB3_HUMAN DNA directed RNA polymerase II polypeptide C 126 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 AACAGCCCCCGGGTCATTCCG 0.577 NA 28 65 0 0 0.004656 0 0 GPR97 222487 broad.mit.edu 37 16 57719568 57719568 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:57719568G>A uc002emh.2 + 11 1373 c.1270G>A c.(1270-1272)GAA>AAA p.E424K GPR97_uc010vhv.1_Missense_Mutation_p.E304K|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Missense_Mutation_p.E32K NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 424 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 CTGGTTCCGTGAAGGGACAAC 0.582 NA 20 119 0 0 0.00278 0 0 PDPR 55066 broad.mit.edu 37 16 70190514 70190514 + Missense_Mutation SNP G G T rs117263218 by1000genomes TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:70190514G>T uc002eyf.1 + 19 3329 c.2372G>T c.(2371-2373)CGG>CTG p.R791L CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.R691L|PDPR_uc002eyg.1_Missense_Mutation_p.R458L|PDPR_uc002eyh.2_Missense_Mutation_p.R136L|PDPR_uc010vls.1_Missense_Mutation_p.R136L NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 791 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CCCATTTACCGGAATGGGCAG 0.532 NA 47 151 7.77372e-23 1.00418e-22 0.00361 1 0 GAN 8139 broad.mit.edu 37 16 81348805 81348805 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr16:81348805C>G uc002fgo.2 + 1 235 c.87C>G c.(85-87)TTC>TTG p.F29L NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 29 cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) AGTCTCGCTTCTGCGACGCGC 0.677 GBM(106;1239 1507 7582 9741 33976) NA 3 5 0 0 0.004672 0 0 OR3A2 4995 broad.mit.edu 37 17 3181738 3181738 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:3181738G>T uc002fvg.2 - 1 531 c.492C>A c.(490-492)AAC>AAA p.N164K NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 164 Helical; Name=4; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GGGTCAGTGCGTTGGTGAAGG 0.582 GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272) NA 57 63 2.18419e-29 2.87559e-29 0.00361 1 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 24 29 2.89027e-11 3.47212e-11 0.002299 1 0 MYH8 4626 broad.mit.edu 37 17 10299898 10299898 + Silent SNP C C G rs146773971 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:10299898C>G uc002gmm.2 - 32 4595 c.4500G>C c.(4498-4500)ACG>ACC p.T1500T uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1500 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTCTTCTTAGCGTTTCGAGTT 0.478 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 12 16 0 0 0.010729 0 0 COX10 1352 broad.mit.edu 37 17 14095532 14095532 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:14095532G>A uc002gof.3 + 6 1126 c.922G>A c.(922-924)GAT>AAT p.D308N COX10_uc010vvs.1_Missense_Mutation_p.D91N|COX10_uc010vvt.1_Missense_Mutation_p.D116N NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 308 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGGCAGCCTCGATGCTGGTAA 0.577 NA 8 46 0 0 0.004482 0 0 TRPV2 51393 broad.mit.edu 37 17 16326824 16326824 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:16326824G>T uc002gpy.2 + 5 1034 c.667G>T c.(667-669)GAT>TAT p.D223Y TRPV2_uc002gpz.2_Intron NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, 223 Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 4. sensory perception integral to plasma membrane|melanosome calcium channel activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CAAGCAGTGGGATGTGGTAAG 0.612 NA 28 25 4.59853e-10 5.5002e-10 0.005443 1 0 MPRIP 23164 broad.mit.edu 37 17 17078657 17078657 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:17078657G>A uc002gqu.1 + 19 2696 c.2640G>A c.(2638-2640)CTG>CTA p.L880L MPRIP_uc002gqv.1_Silent_p.L880L|MPRIP_uc002gqw.1_Silent_p.L635L|MPRIP_uc002gqx.1_Silent_p.L1109L|MPRIP_uc002gqy.1_Silent_p.L1109L|MPRIP_uc010cpl.1_Intron|MPRIP_uc010cpm.1_Intron NM_201274 NP_958431 Q6WCQ1 MPRIP_HUMAN myosin phosphatase-Rho interacting protein 880 Potential. cytoplasm|cytoskeleton actin binding 0 GGACGCTGCTGACTGGGGACG 0.632 NA 8 21 0 0 0.004482 0 0 Unknown 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:21730916G>T uc002gyy.3 + 2 343 c.218G>T c.(217-219)CGG>CTG p.R73L SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GTCCTGCGTCGGAGAGGTGGT 0.552 NA 5 75 1.23904e-05 1.36593e-05 0.000602 1 0 SLC13A2 9058 broad.mit.edu 37 17 26823582 26823582 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:26823582G>A uc002hbh.2 + 11 1652 c.1585G>A c.(1585-1587)GGG>AGG p.G529R SLC13A2_uc010wam.1_Missense_Mutation_p.G485R|SLC13A2_uc010wan.1_Missense_Mutation_p.G578R|SLC13A2_uc010wao.1_Missense_Mutation_p.G486R|SLC13A2_uc002hbi.2_Missense_Mutation_p.G458R NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 529 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTTCTCTTTCGGGGACCTCAA 0.567 NA 15 102 0 0 0.003163 0 0 SUPT6H 6830 broad.mit.edu 37 17 27000441 27000441 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:27000441G>A uc002hby.2 + 2 112 c.22G>A c.(22-24)GAG>AAG p.E8K SUPT6H_uc010crt.2_Missense_Mutation_p.E8K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 8 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TGTGGAAAGCGAGGCTGAGGA 0.468 NA 11 29 0 0 0.010729 0 0 ACCN1 40 broad.mit.edu 37 17 32483356 32483356 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:32483356A>G uc002hhu.2 - 1 470 c.196T>C c.(196-198)TAC>CAC p.Y66H NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 66 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GAGAAGTAGTAGGACACCCTC 0.592 NA 11 41 0 0 0.010729 0 0 MED1 5469 broad.mit.edu 37 17 37584015 37584015 + Silent SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:37584015G>C uc002hrv.3 - 10 890 c.678C>G c.(676-678)GTC>GTG p.V226V MED1_uc010wee.1_Silent_p.V54V|MED1_uc002hru.2_Silent_p.V226V NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 226 Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CAGAAGGAGAGACATAGTACT 0.308 Pancreas(21;279 768 2492 4877 24026) NA HNSCC(31;0.082) 7 25 0 0 0.004482 0 0 MED24 9862 broad.mit.edu 37 17 38186033 38186033 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:38186033G>A uc002htt.2 - 13 1547 c.1234C>T c.(1234-1236)CGG>TGG p.R412W MED24_uc010wes.1_Missense_Mutation_p.R272W|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.R437W|MED24_uc002htu.2_Missense_Mutation_p.R399W|MED24_uc010cwn.2_Missense_Mutation_p.R399W|MED24_uc010weu.1_Missense_Mutation_p.R322W|MED24_uc010wev.1_Missense_Mutation_p.R362W|MED24_uc010wew.1_Missense_Mutation_p.R341W|MED24_uc010wex.1_Missense_Mutation_p.R117W NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 412 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) GGCTCCGCCCGGAGGATCAGC 0.572 NA 25 42 0 0 0.008361 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226847 43226847 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:43226847C>T uc002iig.2 + 1 2164 c.290C>T c.(289-291)TCG>TTG p.S97L NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 97 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 GGGGACGACTCGTCCGCTGGC 0.652 NA OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 22 0 0 0.001984 0 0 HOXB8 3218 broad.mit.edu 37 17 46691978 46691978 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:46691978T>G uc002inw.2 - 1 324 c.89A>C c.(88-90)CAG>CCG p.Q30P NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCAGGTCCTGGGCGAAGCC 0.572 NA 8 7 0 0 0.00308 0 0 ABCA8 10351 broad.mit.edu 37 17 66902184 66902184 + Splice_Site SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:66902184C>A uc002jhp.2 - 17 2457 c.2278_splice c.e17+1 p.D760_splice ABCA8_uc002jhq.2_Splice_Site_p.D800_splice|ABCA8_uc010wqq.1_Splice_Site_p.D800_splice|ABCA8_uc010wqr.1_Splice_Site_p.D739_splice|ABCA8_uc002jhr.2_Splice_Site_p.D800_splice NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) ATTTTATTTACCCGATTCATT 0.333 NA 14 73 1.49906e-05 1.64927e-05 0.00245 1 0 LLGL2 3993 broad.mit.edu 37 17 73566162 73566162 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr17:73566162G>A uc002joh.2 + 15 1854 c.1700G>A c.(1699-1701)CGC>CAC p.R567H LLGL2_uc002joi.2_Missense_Mutation_p.R567H|LLGL2_uc010dgg.1_Missense_Mutation_p.R567H|LLGL2_uc002joj.2_Missense_Mutation_p.R556H|LLGL2_uc010wsd.1_Missense_Mutation_p.R194H NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 567 WD 9. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CTGGCAGCCCGCTCAGGGCCC 0.672 NA 12 15 0 0 0.010729 0 0 NDC80 10403 broad.mit.edu 37 18 2610858 2610858 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:2610858G>A uc002kli.2 + 16 1971 c.1789G>A c.(1789-1791)GAG>AAG p.E597K NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 597 Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 TGGGTCTGTAGAGGTAAGTAT 0.348 NA 28 71 0 0 0.005443 0 0 PPP4R1 9989 broad.mit.edu 37 18 9595070 9595070 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:9595070A>G uc002koe.1 - 3 252 c.134T>C c.(133-135)TTG>TCG p.L45S PPP4R1_uc010wzo.1_Missense_Mutation_p.L2S|PPP4R1_uc002kod.1_Missense_Mutation_p.L28S|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 45 HEAT 2. protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 CAGGGGCGTCAACATTTCATC 0.418 Melanoma(188;1232 2082 5061 11948 35994) NA 21 48 0 0 0.002299 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21747364 21747364 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:21747364C>T uc002kve.2 - 25 2638 c.2464G>A c.(2464-2466)GAA>AAA p.E822K OSBPL1A_uc002kvd.2_Missense_Mutation_p.E309K|OSBPL1A_uc010xbc.1_Missense_Mutation_p.E440K NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 822 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) AATACACTTTCAGAATCCGGC 0.443 NA 17 166 0 0 0.006122 0 0 ZNF521 25925 broad.mit.edu 37 18 22805128 22805128 + Silent SNP G G T rs149662480 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:22805128G>T uc002kvk.2 - 4 3001 c.2754C>A c.(2752-2754)ATC>ATA p.I918I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.I918I|ZNF521_uc002kvl.2_Silent_p.I698I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 918 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCTTTTTCACGATGGCACTTT 0.498 NA T PAX5 ALL 18 75 7.07596e-05 7.64705e-05 0.006122 1 0 ZNF521 25925 broad.mit.edu 37 18 22807050 22807050 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:22807050G>A uc002kvk.2 - 4 1079 c.832C>T c.(832-834)CGA>TGA p.R278* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.R278*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.R58* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 278 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGGGCCGCTCGGTCCTCATTT 0.557 NA T PAX5 ALL 31 103 0 0 0.012213 0 0 DSC1 1823 broad.mit.edu 37 18 28710636 28710636 + Silent SNP A A G rs139389841 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:28710636A>G uc002kwn.2 - 16 2788 c.2526T>C c.(2524-2526)CAT>CAC p.H842H DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 842 Cytoplasmic (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) AGTCTTCACAATGTTTATGCT 0.398 NA 26 29 0 0 0.00632 0 0 DTNA 1837 broad.mit.edu 37 18 32374075 32374075 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:32374075G>A uc010dmn.1 + 3 224 c.223G>A c.(223-225)GAA>AAA p.E75K DTNA_uc002kxu.2_Missense_Mutation_p.E75K|DTNA_uc010xbx.1_Missense_Mutation_p.E75K|DTNA_uc002kxv.3_Missense_Mutation_p.E75K|DTNA_uc002kxw.2_Missense_Mutation_p.E75K|DTNA_uc002kxx.2_Missense_Mutation_p.E75K|DTNA_uc010dmj.2_Missense_Mutation_p.E75K|DTNA_uc002kxz.2_Missense_Mutation_p.E75K|DTNA_uc002kxy.2_Missense_Mutation_p.E75K|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.E75K|DTNA_uc002kyb.3_Missense_Mutation_p.E75K|DTNA_uc010dmm.2_Missense_Mutation_p.E75K NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 75 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 CCCAAACACTGAACTCAACGT 0.463 NA 8 45 0 0 0.006214 0 0 RTTN 25914 broad.mit.edu 37 18 67688031 67688031 + Silent SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr18:67688031T>A uc002lkp.2 - 45 6041 c.5973A>T c.(5971-5973)TCA>TCT p.S1991S RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.S1079S|RTTN_uc002lkn.2_5'UTR|RTTN_uc010dqp.2_Silent_p.S243S NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1991 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) GTCCACAACTTGACCAACAAA 0.438 NA 20 40 0 0 0.008871 0 0 THOP1 7064 broad.mit.edu 37 19 2790526 2790526 + Missense_Mutation SNP G G A rs142015327 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:2790526G>A uc002lwj.2 + 2 279 c.124G>A c.(124-126)GAG>AAG p.E42K NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 42 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 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) GGAGCTCATCGAGCAGACCAA 0.612 NA 11 44 0 0 0.008291 0 0 C19orf29 58509 broad.mit.edu 37 19 3623983 3623983 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:3623983T>C uc002lyh.2 - 2 398 c.345A>G c.(343-345)GCA>GCG p.A115A C19orf29_uc010dtn.2_5'Flank|C19orf29_uc002lyi.3_Silent_p.A115A|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 115 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CGGAGCTGGATGCTGAGGAGC 0.726 NA 8 10 0 0 0.00308 0 0 SAFB 6294 broad.mit.edu 37 19 5654150 5654150 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:5654150G>C uc002mcf.2 + 12 1658 c.1605G>C c.(1603-1605)AAG>AAC p.K535N SAFB_uc002mcg.2_Missense_Mutation_p.K535N|SAFB_uc002mce.3_Missense_Mutation_p.K535N|SAFB_uc010xir.1_Missense_Mutation_p.K535N|SAFB_uc010xis.1_Missense_Mutation_p.K466N|SAFB_uc010xit.1_Missense_Mutation_p.K378N|SAFB_uc010xiu.1_Missense_Mutation_p.K334N NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 535 Interaction with POLR2A. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GTGGAGAAAAGAGTAAGGACC 0.448 Colon(88;338 1345 6184 8214 20897) NA 14 15 0 0 0.00245 0 0 SLC25A41 284427 broad.mit.edu 37 19 6427134 6427134 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:6427134C>A uc010dus.2 - 6 1006 c.920G>T c.(919-921)CGC>CTC p.R307L KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Missense_Mutation_p.R169L NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 307 Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 CATCCTGGTGCGCACCAGAGT 0.632 NA 4 8 0.000602214 0.000638254 0.000602 1 0 SLC25A23 79085 broad.mit.edu 37 19 6459599 6459599 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:6459599C>A uc002mex.1 - 1 183 c.41G>T c.(40-42)TGG>TTG p.W14L SLC25A23_uc002mev.2_RNA NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN solute carrier family 25, member 23 14 Mitochondrial intermembrane (Potential).|EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1)|pancreas(1) 2 CAGGCGACCCCAGCGCTGCCG 0.577 NA 9 10 3.86212e-05 4.19862e-05 0.008291 1 0 INSR 3643 broad.mit.edu 37 19 7141783 7141783 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:7141783C>T uc002mgd.1 - 13 2696 c.2587G>A c.(2587-2589)GAG>AAG p.E863K INSR_uc002mge.1_Missense_Mutation_p.E851K NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 863 Fibronectin type-III 3.|Extracellular (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACGTTGTTCTCAAAGATTTCA 0.353 NA 10 56 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9077470 9077470 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:9077470C>T uc002mkp.2 - 3 10180 c.9976G>A c.(9976-9978)GGG>AGG p.G3326R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3327 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGACCAGTCCCTGTGATGCTT 0.517 NA 49 37 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9082874 9082874 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:9082874C>A uc002mkp.2 - 1 9145 c.8941G>T c.(8941-8943)GGA>TGA p.G2981* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2982 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCCCTGTTCCTGAAGTGGGG 0.498 NA 47 53 6.81593e-30 8.99506e-30 0.00361 1 0 RAVER1 125950 broad.mit.edu 37 19 10431489 10431489 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:10431489G>C uc002moa.2 - 9 1743 c.1663C>G c.(1663-1665)CCA>GCA p.P555A RAVER1_uc002mnz.2_5'Flank NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CCCTCAGCTGGGCGGCGGCTT 0.697 NA 5 11 0 0 0.000602 0 0 USE1 55850 broad.mit.edu 37 19 17330079 17330079 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:17330079C>T uc002nfo.2 + 7 540 c.480C>T c.(478-480)CTC>CTT p.L160L USE1_uc010eal.1_Intron NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 160 Cytoplasmic (Potential).|Potential. lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 AGCTAGACCTCGTCCTGCAGC 0.557 NA 5 30 0 0 0.000602 0 0 CRLF1 9244 broad.mit.edu 37 19 18710483 18710483 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:18710483C>A uc010ebt.1 - 2 483 c.289G>T c.(289-291)GCT>TCT p.A97S NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 97 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 AGGGCCAGAGCCAAGGTGGAG 0.692 NA 7 7 0.00198382 0.00208643 0.001984 1 0 ZNF676 163223 broad.mit.edu 37 19 22362910 22362910 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:22362910C>G uc002nqs.1 - 3 1927 c.1609G>C c.(1609-1611)GAA>CAA p.E537Q NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 537 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.418 NA 14 43 0 0 0.003163 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769504 31769504 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:31769504G>A uc002nsy.3 - 2 1260 c.1195C>T c.(1195-1197)CAG>TAG p.Q399* NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 399 C2H2-type 3; atypical. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GTGAGCTCCTGCAGGGTGTCA 0.572 NA 118 75 0 0 0.00361 0 0 PDCD5 9141 broad.mit.edu 37 19 33076808 33076808 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:33076808G>A uc002ntm.2 + 4 317 c.253G>A c.(253-255)GAG>AAG p.E85K PDCD5_uc002ntl.2_Missense_Mutation_p.E85K|PDCD5_uc010ede.2_Intron NM_004708 NP_004699 O14737 PDCD5_HUMAN programmed cell death 5 85 apoptosis|induction of apoptosis cytoplasm|nucleus DNA binding p.E85D(1) ovary(1)|lung(1) 2 Esophageal squamous(110;0.137) ACAACTAAGTGAGAAGGTAAG 0.358 NA 75 42 0 0 0.00361 0 0 ZNF461 92283 broad.mit.edu 37 19 37130289 37130289 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:37130289G>A uc002oem.2 - 6 1186 c.958C>T c.(958-960)CAG>TAG p.Q320* ZNF461_uc002oen.2_Nonsense_Mutation_p.Q289*|ZNF461_uc010xtj.1_Nonsense_Mutation_p.Q297* NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 320 C2H2-type 4. 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) TGAAGTCTCTGATGTTGAGTA 0.413 NA 8 30 0 0 0.00308 0 0 ZNF461 92283 broad.mit.edu 37 19 37130448 37130448 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:37130448G>A uc002oem.2 - 6 1027 c.799C>T c.(799-801)CAT>TAT p.H267Y ZNF461_uc002oen.2_Missense_Mutation_p.H236Y|ZNF461_uc010xtj.1_Missense_Mutation_p.H244Y NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 267 C2H2-type 2. 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) TCACCATTATGAATTCTTAGA 0.353 NA 6 39 0 0 0.001168 0 0 ZNF573 126231 broad.mit.edu 37 19 38229543 38229543 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:38229543C>A uc002ohe.2 - 4 1870 c.1848G>T c.(1846-1848)GGG>GGT p.G616G ZNF573_uc010efs.2_Silent_p.G529G|ZNF573_uc002ohd.2_Silent_p.G614G|ZNF573_uc002ohf.2_Silent_p.G558G|ZNF573_uc002ohg.2_Silent_p.G528G NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 596 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TGAAGGCCTTCCCACATTCTT 0.393 NA 77 31 1.07363e-35 1.44113e-35 0.00361 1 0 PRR19 284338 broad.mit.edu 37 19 42814213 42814213 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:42814213G>A uc002oti.2 + 2 855 c.477G>A c.(475-477)CAG>CAA p.Q159Q PRR19_uc002oth.1_Silent_p.Q159Q|PRR19_uc002otj.2_Silent_p.Q159Q NM_199285 NP_954979 A6NJB7 PRR19_HUMAN proline rich 19 159 0 Prostate(69;0.00682) GTTTGCCACAGGCCTTCCCCC 0.632 NA 55 24 0 0 0.00361 0 0 PHLDB3 653583 broad.mit.edu 37 19 44005962 44005962 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:44005962C>T uc002own.3 - 4 717 c.458G>A c.(457-459)CGG>CAG p.R153Q PHLDB3_uc002owo.2_Missense_Mutation_p.R153Q NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 153 Potential. 0 Prostate(69;0.0153) CTCCTCCTCCCGGCGAGCGGC 0.711 NA 13 10 0 0 0.001368 0 0 ZNF234 10780 broad.mit.edu 37 19 44661636 44661636 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:44661636C>A uc002oym.2 + 6 1774 c.1467C>A c.(1465-1467)TGC>TGA p.C489* ZNF234_uc002oyl.3_Nonsense_Mutation_p.C489* NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 489 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) GTGAAGAGTGCGGAAAGGGAT 0.453 NA 62 29 1.4709e-25 1.91356e-25 0.00361 1 0 ZNF227 7770 broad.mit.edu 37 19 44739918 44739918 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:44739918C>G uc002oyu.2 + 6 1540 c.1335C>G c.(1333-1335)TTC>TTG p.F445L ZNF227_uc010xwu.1_Missense_Mutation_p.F394L|ZNF227_uc002oyv.2_Missense_Mutation_p.F445L|ZNF227_uc010xwv.1_Missense_Mutation_p.F394L|ZNF227_uc010xww.1_Missense_Mutation_p.F366L|ZNF227_uc002oyw.2_Missense_Mutation_p.F417L|ZNF227_uc010ejh.2_Missense_Mutation_p.F438L|ZNF235_uc002oyx.1_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 445 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) GTAAGGGCTTCAGCCACAATT 0.483 NA 37 73 0 0 0.004878 0 0 ZNF227 7770 broad.mit.edu 37 19 44740270 44740270 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:44740270C>G uc002oyu.2 + 6 1892 c.1687C>G c.(1687-1689)CTT>GTT p.L563V ZNF227_uc010xwu.1_Missense_Mutation_p.L512V|ZNF227_uc002oyv.2_Missense_Mutation_p.L563V|ZNF227_uc010xwv.1_Missense_Mutation_p.L512V|ZNF227_uc010xww.1_Missense_Mutation_p.L484V|ZNF227_uc002oyw.2_Missense_Mutation_p.L535V|ZNF227_uc010ejh.2_Missense_Mutation_p.L556V|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 563 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) TAGTTCAAATCTTAAACTACA 0.408 NA 24 42 0 0 0.00333 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022063 51022063 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:51022063G>A uc002pss.2 - 3 1044 c.907C>T c.(907-909)CTC>TTC p.L303F NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 303 Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) ACGCGCTCGAGGCGGTGCAGG 0.637 NA 87 44 0 0 0.00361 0 0 LILRA6 79168 broad.mit.edu 37 19 54744411 54744411 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:54744411G>T uc002qeu.1 - 6 1121 c.997C>A c.(997-999)CCC>ACC p.P333T LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.P333T|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.P333T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.P333T|LILRA6_uc010yeq.1_Missense_Mutation_p.P333T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.P194T NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 333 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCACTGTGGGGCCCGGCTGT 0.592 NA 33 48 1.07121e-22 1.3805e-22 0.006999 1 0 LILRA4 23547 broad.mit.edu 37 19 54849257 54849257 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:54849257G>T uc002qfj.2 - 4 662 c.605C>A c.(604-606)ACC>AAC p.T202N LILRA4_uc002qfi.2_Missense_Mutation_p.T136N NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 202 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACGTATGGGGTGTTGTTTTC 0.552 NA 42 21 1.03325e-14 1.28337e-14 0.011902 1 0 ZNF835 90485 broad.mit.edu 37 19 57175427 57175427 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:57175427G>A uc010ygo.1 - 2 1206 c.1206C>T c.(1204-1206)CAC>CAT p.H402H ZNF835_uc010ygn.1_Silent_p.H380H NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GCACGAGGCGGTGCTGGAGGA 0.672 NA 33 28 0 0 0.012213 0 0 PEG3 5178 broad.mit.edu 37 19 57328382 57328382 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:57328382T>C uc002qnu.2 - 7 1779 c.1428A>G c.(1426-1428)AGA>AGG p.R476R ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.R447R|PEG3_uc002qnv.2_Silent_p.R476R|PEG3_uc002qnw.2_Silent_p.R352R|PEG3_uc002qnx.2_Silent_p.R350R|PEG3_uc010etr.2_Silent_p.R476R NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 476 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGAGGTTCTCTCTAGTATGCA 0.438 NA 118 54 0 0 0.00361 0 0 ZIM3 114026 broad.mit.edu 37 19 57646645 57646645 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr19:57646645C>A uc002qnz.1 - 5 1446 c.1060G>T c.(1060-1062)GAG>TAG p.E354* NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 354 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAATTTTCTCATGATCGATG 0.383 NA 73 46 7.59065e-32 1.01147e-31 0.00361 1 0 PDIA6 10130 broad.mit.edu 37 2 10932003 10932003 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:10932003C>T uc002rau.2 - 6 640 c.502G>A c.(502-504)GAC>AAC p.D168N PDIA6_uc010yjg.1_Missense_Mutation_p.D165N|PDIA6_uc002rav.2_Missense_Mutation_p.D220N|PDIA6_uc010yjh.1_Missense_Mutation_p.D173N|PDIA6_uc002raw.2_Missense_Mutation_p.D216N NM_005742 NP_005733 Q15084 PDIA6_HUMAN protein disulfide isomerase A6 precursor 168 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) TCAAAGCTGTCGTCTGTCAGC 0.398 GBM(73;509 1219 34219 41343 41551) NA 8 39 0 0 0.00308 0 0 BIRC6 57448 broad.mit.edu 37 2 32774406 32774406 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:32774406C>T uc010ezu.2 + 65 13136 c.13002C>T c.(13000-13002)GTC>GTT p.V4334V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4334 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TAAATCCCGTCAGTAGTGCGG 0.383 Pancreas(94;175 1509 16028 18060 45422) NA 6 86 0 0 0.001168 0 0 PNPT1 87178 broad.mit.edu 37 2 55912132 55912132 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:55912132G>C uc002rzf.2 - 4 402 c.349C>G c.(349-351)CTG>GTG p.L117V PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 117 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TCTCTTCTCAGATAGTTTGTG 0.353 NA 21 17 0 0 0.005443 0 0 USP34 9736 broad.mit.edu 37 2 61416060 61416060 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:61416060C>G uc002sbe.2 - 79 10040 c.10018G>C c.(10018-10020)GAA>CAA p.E3340Q USP34_uc002sbd.2_Missense_Mutation_p.E142Q NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3340 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GTTTTTCTTTCTTTGGCTTCT 0.408 NA 8 55 0 0 0.008291 0 0 USP34 9736 broad.mit.edu 37 2 61622131 61622131 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:61622131C>G uc002sbe.2 - 5 632 c.610G>C c.(610-612)GAA>CAA p.E204Q NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 204 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) AATGGTACTTCTACATCCTGG 0.323 NA 12 7 0 0 0.010729 0 0 REG3A 5068 broad.mit.edu 37 2 79384798 79384798 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:79384798C>G uc002sod.1 - 4 615 c.360G>C c.(358-360)TGG>TGC p.W120C REG3A_uc002soe.1_Missense_Mutation_p.W120C|REG3A_uc002sof.1_Missense_Mutation_p.W120C NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 120 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TACTCCACTCCCAACCTTCTC 0.552 NA 46 31 0 0 0.00361 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105892133 105892133 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:105892133C>T uc002tcq.2 - 8 1633 c.1549G>A c.(1549-1551)GTC>ATC p.V517I TGFBRAP1_uc010fjc.2_Missense_Mutation_p.V287I|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.V517I NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 517 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 GAGTCCTGGACATCGCCATTC 0.383 Esophageal Squamous(183;794 2019 9730 21801 48859) NA 8 80 0 0 0.004482 0 0 SCTR 6344 broad.mit.edu 37 2 120219423 120219423 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:120219423C>A uc002tma.2 - 7 1016 c.790G>T c.(790-792)GGT>TGT p.G264C SCTR_uc002tlz.2_Missense_Mutation_p.G86C NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 264 Helical; Name=4; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGAAACATACCCCATCCGAAT 0.333 NA 33 33 1.04594e-18 1.3323e-18 0.00623 1 0 THSD7B 80731 broad.mit.edu 37 2 137814327 137814327 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:137814327C>G uc002tva.1 + 2 384 c.384C>G c.(382-384)TGC>TGG p.C128W THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.C18W NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) ATGAAATATGCGAACACTTTG 0.522 NA 86 94 0 0 0.00361 0 0 GALNT13 114805 broad.mit.edu 37 2 155098581 155098581 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:155098581C>T uc002tyr.3 + 5 917 c.350C>T c.(349-351)ACA>ATA p.T117I GALNT13_uc002tyt.3_Missense_Mutation_p.T117I|GALNT13_uc010foc.1_5'UTR NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 117 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CTTCCAAACACAAGTGTAGTC 0.353 NA 13 18 0 0 0.001855 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555914 155555914 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:155555914C>A uc002tyv.1 + 1 822 c.627C>A c.(625-627)CTC>CTA p.L209L KCNJ3_uc010zce.1_Silent_p.L209L NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 209 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) ACGGAAAACTCACGCTTATGT 0.592 NA 13 19 3.27435e-08 3.77651e-08 0.00245 1 0 PLA2R1 22925 broad.mit.edu 37 2 160898542 160898542 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:160898542C>A uc002ube.1 - 3 868 c.661G>T c.(661-663)GAT>TAT p.D221Y PLA2R1_uc010zcp.1_Missense_Mutation_p.D221Y|PLA2R1_uc002ubf.2_Missense_Mutation_p.D221Y NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 221 Extracellular (Potential).|Fibronectin type-II. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TTACTGGGATCAGGGCAAAAT 0.393 NA 53 42 2.01871e-26 2.63875e-26 0.00361 1 0 KBTBD10 10324 broad.mit.edu 37 2 170356080 170356080 + Missense_Mutation SNP G G C rs142007921 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:170356080G>C uc010zdh.1 + 9 824 c.766G>C c.(766-768)GTC>CTC p.V256L BBS5_uc002uet.2_Missense_Mutation_p.V256L|BBS5_uc010fpw.2_Missense_Mutation_p.V235L NM_152384 NP_689597 O60662 KBTBA_HUMAN Bardet-Biedl syndrome 5 Error:Variant_position_missing_in_O60662_after_alignment striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 ACTTCACAAAGTCTATTCTGC 0.333 NA 27 65 0 0 0.00632 0 0 TTN 7273 broad.mit.edu 37 2 179605651 179605651 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:179605651C>G uc010zfh.1 - 46 12020 c.11796G>C c.(11794-11796)TTG>TTC p.L3932F TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3865F|TTN_uc010zfj.1_Missense_Mutation_p.L3740F|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGACTGCTCAATTCATTGG 0.398 NA 21 91 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179613632 179613632 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:179613632G>C uc002unb.2 - 46 13719 c.13495C>G c.(13495-13497)CAA>GAA p.Q4499E TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATTCTCTTTGCTTTAATGAA 0.313 NA 3 73 0 0 0.004672 0 0 CCDC141 285025 broad.mit.edu 37 2 179702304 179702304 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:179702304G>T uc002unf.1 - 13 1974 c.1917C>A c.(1915-1917)ATC>ATA p.I639I CCDC141_uc002une.1_Silent_p.I89I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 639 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAGGCAAGGAGATGTCATCAG 0.562 NA 4 69 0.00024832 0.000265229 0.009096 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803303 185803303 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:185803303G>T uc002uph.2 + 4 3774 c.3180G>T c.(3178-3180)ATG>ATT p.M1060I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1060 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AGCCAAACATGCTGGCCAACA 0.468 NA 80 41 2.05912e-35 2.75722e-35 0.00361 1 0 PLCL1 5334 broad.mit.edu 37 2 198950263 198950263 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:198950263G>A uc010fsp.2 + 2 2313 c.2022G>A c.(2020-2022)CCG>CCA p.P674P PLCL1_uc002uuv.3_Silent_p.P595P NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 674 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTCAGACTCCGGGTCCAATGA 0.443 NA 20 76 0 0 0.008871 0 0 EEF1B2 1933 broad.mit.edu 37 2 207027266 207027266 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:207027266G>A uc002vbf.1 + 6 609 c.451G>A c.(451-453)GAT>AAT p.D151N EEF1B2_uc002vbg.1_Missense_Mutation_p.D151N|EEF1B2_uc002vbh.1_Missense_Mutation_p.D151N NM_001037663 NP_001032752 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 151 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 ACCTTGGGATGATGAGACAGA 0.378 NA 17 177 0 0 0.006122 0 0 PTH2R 5746 broad.mit.edu 37 2 209302497 209302497 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:209302497G>A uc002vdb.2 + 4 515 c.302G>A c.(301-303)CGA>CAA p.R101Q PTH2R_uc010zjb.1_Missense_Mutation_p.R112Q NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 101 Extracellular (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GTTGCTTTCCGACACTGTAAC 0.388 NA 42 19 0 0 0.013114 0 0 SPEG 10290 broad.mit.edu 37 2 220315959 220315959 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:220315959G>A uc010fwg.2 + 5 2215 c.2215G>A c.(2215-2217)GTG>ATG p.V739M SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Translation_Start_Site|SPEG_uc002vln.1_Translation_Start_Site|SPEG_uc002vlp.1_Translation_Start_Site NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 739 Ig-like 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGGGGCAGATGTGCTGCTCAA 0.617 NA 6 106 0 0 0.001168 0 0 CHPF 79586 broad.mit.edu 37 2 220404716 220404716 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:220404716G>A uc002vmc.3 - 4 1944 c.1717C>T c.(1717-1719)CTG>TTG p.L573L CHPF_uc010zlh.1_Silent_p.L411L NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 573 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CGCCGCTCCAGCTCTGCCACG 0.662 NA 42 25 0 0 0.00361 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559872 223559872 + Nonsense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:223559872G>T uc010fws.1 + 5 766 c.718G>T c.(718-720)GAA>TAA p.E240* MOGAT1_uc010fwt.1_Nonsense_Mutation_p.E200* NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 240 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TGACAACCCTGAAGGATCATG 0.428 Ovarian(93;205 1446 2385 11581 25911) NA 15 14 3.27435e-08 3.77651e-08 0.00245 1 0 SPHKAP 80309 broad.mit.edu 37 2 228881270 228881270 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:228881270C>T uc002vpq.2 - 7 4347 c.4300G>A c.(4300-4302)GAT>AAT p.D1434N SPHKAP_uc002vpp.2_Missense_Mutation_p.D1434N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1434N NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1434 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTCTCTGATCTGTTTCAATC 0.468 NA 38 29 0 0 0.003755 0 0 DGKD 8527 broad.mit.edu 37 2 234343033 234343033 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:234343033C>T uc002vui.1 + 4 368 c.356C>T c.(355-357)ACT>ATT p.T119I DGKD_uc002vuj.1_Missense_Mutation_p.T75I|DGKD_uc010fyh.1_5'UTR|DGKD_uc002vuk.1_5'UTR NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 119 PH. 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) TAGGTCATAACTCCATGCAGG 0.418 NA 7 131 0 0 0.00308 0 0 UGT1A7 54577 broad.mit.edu 37 2 234590805 234590805 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:234590805G>A uc002vut.2 + 1 222 c.222G>A c.(220-222)GTG>GTA p.V74V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Silent_p.V74V NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 74 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATTGCACAGTGAAGACTTACT 0.527 NA 24 181 0 0 0.00333 0 0 COL6A3 1293 broad.mit.edu 37 2 238268032 238268032 + Splice_Site SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:238268032C>T uc002vwl.2 - 18 6568 c.6283_splice c.e18-1 p.G2095_splice COL6A3_uc002vwo.2_Splice_Site_p.G1889_splice|COL6A3_uc010znj.1_Splice_Site_p.G1488_splice NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCGAGAGCCCTAGAAGGCAA 0.507 NA 24 140 0 0 0.003954 0 0 PRLH 51052 broad.mit.edu 37 2 238475665 238475665 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:238475665C>T uc010znl.1 + 2 111 c.111C>T c.(109-111)ATC>ATT p.I37I NM_015893 NP_056977 P81277 PRRP_HUMAN prolactin releasing hormone precursor 37 extracellular region 0 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) CCCCTGACATCAATCCTGCCT 0.677 NA 30 50 0 0 0.008361 0 0 CAPN10 11132 broad.mit.edu 37 2 241528798 241528798 + Silent SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:241528798A>T uc002vzk.1 + 2 364 c.180A>T c.(178-180)CCA>CCT p.P60P CAPN10_uc010zoh.1_Silent_p.P60P|CAPN10_uc002vzl.1_Silent_p.P60P|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Silent_p.P60P NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 60 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CAGATGACCCACGGGAAGGGC 0.587 NA 17 159 0 0 0.006122 0 0 ANO7 50636 broad.mit.edu 37 2 242128153 242128153 + Missense_Mutation SNP G G C rs150079713 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr2:242128153G>C uc002wax.2 + 1 230 c.127G>C c.(127-129)GAG>CAG p.E43Q ANO7_uc002waw.2_Missense_Mutation_p.E43Q NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 43 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CATGACCTCCGAGACCTCTTC 0.677 NA 6 41 0 0 0.001168 0 0 RRBP1 6238 broad.mit.edu 37 20 17622538 17622538 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:17622538C>T uc002wpv.1 - 6 1143 c.789G>A c.(787-789)GCG>GCA p.A263A RRBP1_uc002wpu.2_Silent_p.A37A|RRBP1_uc002wpw.1_Silent_p.A263A|RRBP1_uc010gcl.1_Silent_p.A37A NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 696 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 GTTTCAGAATCGCCACAGGGT 0.547 NA 46 62 0 0 0.00361 0 0 REM1 28954 broad.mit.edu 37 20 30065683 30065683 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:30065683G>A uc002wwa.2 + 3 677 c.393G>A c.(391-393)GTG>GTA p.V131V NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 131 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCACACTGGTGGTCGTGGACA 0.567 NA 11 13 0 0 0.00245 0 0 BCL2L1 598 broad.mit.edu 37 20 30309796 30309796 + Missense_Mutation SNP C C G rs138364013 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:30309796C>G uc002wwl.2 - 2 592 c.226G>C c.(226-228)GAT>CAT p.D76H BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Missense_Mutation_p.D76H|BCL2L1_uc002wwn.2_Missense_Mutation_p.D76H|BCL2L1_uc002wwo.1_Missense_Mutation_p.D76H NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 76 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) TCCCGGGCATCCAAACTGCTG 0.622 Colon(51;693 1004 1401 20431 21026) NA 20 67 0 0 0.007413 0 0 ACSS2 55902 broad.mit.edu 37 20 33500968 33500968 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:33500968C>T uc002xbd.2 + 3 565 c.444C>T c.(442-444)TTC>TTT p.F148F ACSS2_uc002xbc.2_Silent_p.F53F|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.F148F|ACSS2_uc002xbe.2_Intron|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 148 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTGTCAGTTCAGCAATGTTC 0.532 NA 14 81 0 0 0.001855 0 0 C20orf152 140894 broad.mit.edu 37 20 34583046 34583046 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:34583046T>C uc002xes.1 + 8 1098 c.942T>C c.(940-942)GAT>GAC p.D314D C20orf152_uc002xer.1_Silent_p.D314D|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 314 0 Breast(12;0.00631) AGCTGATAGATGGCAGACCTC 0.597 NA OREG0025897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 50 0 0 0.010504 0 0 B4GALT5 9334 broad.mit.edu 37 20 48260100 48260100 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:48260100C>T uc002xuu.3 - 4 646 c.452G>A c.(451-453)GGT>GAT p.G151D NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 151 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) CTTCCAGTGACCTCCGAGCTT 0.493 NA 19 81 0 0 0.010504 0 0 COL20A1 57642 broad.mit.edu 37 20 61937232 61937232 + Splice_Site SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:61937232G>A uc011aau.1 + 5 438 c.338_splice c.e5-1 p.I113_splice COL20A1_uc011aav.1_5'Flank NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) TCTCCCTGCAGTTGAGGATCT 0.657 NA 10 43 0 0 0.008291 0 0 ZGPAT 84619 broad.mit.edu 37 20 62366802 62366802 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:62366802G>T uc002ygk.2 + 6 1521 c.1343G>T c.(1342-1344)AGC>ATC p.S448I ZGPAT_uc002ygi.2_Missense_Mutation_p.S428I|ZGPAT_uc002ygj.2_Missense_Mutation_p.S428I|ZGPAT_uc010gkk.1_Missense_Mutation_p.S5I|ZGPAT_uc010gkl.1_Missense_Mutation_p.S428I|ZGPAT_uc002ygm.2_Missense_Mutation_p.S419I|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 448 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TACCATGCCAGCAAGAGTGCC 0.627 NA 9 15 7.48243e-07 8.50487e-07 0.006214 1 0 CHAF1B 8208 broad.mit.edu 37 21 37775077 37775077 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr21:37775077C>T uc002yvj.2 + 8 823 c.685C>T c.(685-687)CAC>TAC p.H229Y NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 229 WD 5. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 CCGGATGTTTCACGACGACAG 0.393 NA 39 200 0 0 0.013114 0 0 ICOSLG 23308 broad.mit.edu 37 21 45651216 45651216 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr21:45651216G>A uc002zee.2 - 5 943 c.809C>T c.(808-810)GCG>GTG p.A270V ICOSLG_uc011afc.1_Missense_Mutation_p.A180V|ICOSLG_uc002zef.2_Missense_Mutation_p.A153V|ICOSLG_uc010gpp.1_Missense_Mutation_p.A270V NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 270 Helical; (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TATGGCCACCGCCACGACCAC 0.572 NA 24 52 0 0 0.00333 0 0 COL6A2 1292 broad.mit.edu 37 21 47533965 47533965 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr21:47533965C>A uc002zia.1 + 5 861 c.779C>A c.(778-780)CCC>CAC p.P260H COL6A2_uc002zhy.1_Missense_Mutation_p.P260H|COL6A2_uc002zhz.1_Missense_Mutation_p.P260H|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 260 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCCTCTGGCCCCAAGGGCTAC 0.532 NA 12 59 0.00316338 0.00332064 0.003163 1 0 PCNT 5116 broad.mit.edu 37 21 47836669 47836669 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr21:47836669C>T uc002zji.3 + 30 6944 c.6837C>T c.(6835-6837)TCC>TCT p.S2279S PCNT_uc002zjj.2_Silent_p.S2161S NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2279 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGCTTTGTTCCCCAGGCGTGT 0.687 NA 22 36 0 0 0.002299 0 0 PRAME 23532 broad.mit.edu 37 22 22892468 22892468 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:22892468C>T uc002zwf.2 - 4 789 c.633G>A c.(631-633)AAG>AAA p.K211K LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.K195K|PRAME_uc010gtr.2_Silent_p.K211K|PRAME_uc002zwg.2_Silent_p.K211K|PRAME_uc002zwh.2_Silent_p.K211K|PRAME_uc002zwi.2_Silent_p.K211K|PRAME_uc002zwj.2_Silent_p.K211K|PRAME_uc002zwk.2_Silent_p.K211K NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 211 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCTTCAGCTTCTTACAGCACA 0.433 Melanoma(73;1707 1838 15168 27201) NA 13 79 0 0 0.001368 0 0 MYO18B 84700 broad.mit.edu 37 22 26343735 26343735 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:26343735G>C uc003abz.1 + 36 5939 c.5689G>C c.(5689-5691)GAT>CAT p.D1897H MYO18B_uc003aca.1_Missense_Mutation_p.D1778H|MYO18B_uc010guy.1_Missense_Mutation_p.D1779H|MYO18B_uc010guz.1_Missense_Mutation_p.D1777H|MYO18B_uc011aka.1_Missense_Mutation_p.D1051H|MYO18B_uc011akb.1_Missense_Mutation_p.D1410H NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1897 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GAAGCGCATCGATGAGGACCA 0.552 NA 11 27 0 0 0.001855 0 0 DEPDC5 9681 broad.mit.edu 37 22 32193597 32193597 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:32193597A>T uc003als.2 + 13 921 c.779A>T c.(778-780)CAG>CTG p.Q260L DEPDC5_uc011als.1_Missense_Mutation_p.Q260L|DEPDC5_uc011alu.1_Missense_Mutation_p.Q260L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.Q260L|DEPDC5_uc003alr.1_Missense_Mutation_p.Q260L|DEPDC5_uc011alt.1_Missense_Mutation_p.Q232L NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 260 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GTGGTGGTGCAGAATGAGAGA 0.313 NA 14 42 0 0 0.003163 0 0 TNRC6B 23112 broad.mit.edu 37 22 40658159 40658159 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:40658159G>A uc011aor.1 + 4 650 c.439G>A c.(439-441)GAG>AAG p.E147K TNRC6B_uc003aym.2_Missense_Mutation_p.E183K|TNRC6B_uc003ayn.3_Missense_Mutation_p.E147K|TNRC6B_uc003ayo.2_5'Flank NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 147 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 GCTGCAGAGTGAGAGTGGGAC 0.572 NA 4 13 0 0 0.009096 0 0 XRCC6 2547 broad.mit.edu 37 22 42054269 42054269 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:42054269G>C uc003bao.1 + 11 1505 c.1435G>C c.(1435-1437)GAG>CAG p.E479Q XRCC6_uc003bap.1_Missense_Mutation_p.E438Q|XRCC6_uc011apc.1_Missense_Mutation_p.E429Q|XRCC6_uc003baq.1_Missense_Mutation_p.E479Q|XRCC6_uc003bar.1_Missense_Mutation_p.E479Q|XRCC6_uc003bas.1_Missense_Mutation_p.E429Q NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 479 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 TGACAGCTTTGAGAACCCCGT 0.428 NA Direct_reversal_of_damage|NHEJ 8 83 0 0 0.006214 0 0 EFCAB6 64800 broad.mit.edu 37 22 44022376 44022376 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:44022376A>C uc003bdy.1 - 20 2631 c.2416T>G c.(2416-2418)TGT>GGT p.C806G EFCAB6_uc003bdz.1_Missense_Mutation_p.C654G|EFCAB6_uc010gzi.1_Missense_Mutation_p.C654G|EFCAB6_uc010gzj.1_Missense_Mutation_p.C104G|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 806 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CTCTTCTCACACAAATTTTGA 0.453 NA 16 29 0 0 0.003163 0 0 MAPK12 6300 broad.mit.edu 37 22 50693762 50693762 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:50693762C>T uc003bkm.1 - 11 1039 c.888G>A c.(886-888)GCG>GCA p.A296A MAPK12_uc003bkn.2_Silent_p.A115A|MAPK12_uc003bko.2_Silent_p.A206A|MAPK12_uc003bkl.1_Silent_p.A286A|MAPK12_uc003bkp.2_Silent_p.A81A|MAPK12_uc003bkq.2_Silent_p.A115A NM_002969 NP_002960 P53778 MK12_HUMAN mitogen-activated protein kinase 12 296 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCGCTGCTCCGCGTCCAGCA 0.657 NA 18 129 0 0 0.008871 0 0 GRM7 2917 broad.mit.edu 37 3 7503304 7503304 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:7503304C>T uc003bqm.2 + 7 1684 c.1410C>T c.(1408-1410)AAC>AAT p.N470N GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.N470N|GRM7_uc003bql.2_Silent_p.N470N|GRM7_uc003bqn.1_Silent_p.N53N|GRM7_uc010hch.1_Translation_Start_Site NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 470 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TTAACAAGAACGGGGATGCAC 0.448 NA 5 102 0 0 0.001168 0 0 RAD18 56852 broad.mit.edu 37 3 8977576 8977576 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:8977576C>G uc003brd.2 - 7 945 c.868G>C c.(868-870)GAT>CAT p.D290H RAD18_uc003bre.2_RNA NM_020165 NP_064550 Q9NS91 RAD18_HUMAN postreplication repair protein hRAD18p 290 DNA repair nucleus|replication fork damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding skin(3)|ovary(2) 5 OV - Ovarian serous cystadenocarcinoma(96;0.0552) TGCAAAGCATCGCATTGGGCA 0.328 NA Rad6_pathway 9 44 0 0 0.006214 0 0 RFTN1 23180 broad.mit.edu 37 3 16411594 16411594 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:16411594C>G uc003cay.2 - 6 1301 c.1019G>C c.(1018-1020)GGA>GCA p.G340A RFTN1_uc010hes.2_Missense_Mutation_p.G304A NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 340 plasma membrane ovary(3)|central_nervous_system(1) 4 ATTCACTATTCCAAGGTAGAA 0.493 NA 13 55 0 0 0.001368 0 0 KCNH8 131096 broad.mit.edu 37 3 19575181 19575181 + Silent SNP C C A rs138763434 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:19575181C>A uc003cbk.1 + 16 3109 c.2914C>A c.(2914-2916)CGA>AGA p.R972R KCNH8_uc010hex.1_Silent_p.R433R NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 972 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CAGCCCCCAACGAACTGGAGC 0.493 NSCLC(124;1625 1765 8018 24930 42026) NA 17 65 2.94398e-08 3.43152e-08 0.007413 1 0 NEK10 152110 broad.mit.edu 37 3 27161315 27161315 + Silent SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:27161315T>A uc010hfk.2 - 14 1462 c.1233A>T c.(1231-1233)ACA>ACT p.T411T NEK10_uc010hfj.2_Silent_p.T354T Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 1099 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GGTAATCTGCTGTGAAAAAGT 0.423 NA 10 59 0 0 0.008291 0 0 NEK10 152110 broad.mit.edu 37 3 27243978 27243978 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:27243978G>T uc010hfk.2 - 3 326 c.97C>A c.(97-99)CAG>AAG p.Q33K NEK10_uc003cds.1_Missense_Mutation_p.Q118K|NEK10_uc010hfj.2_Missense_Mutation_p.Q33K Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 721 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GTCGCCATCTGATAAAGGATG 0.493 NA 6 35 0.00198382 0.00208643 0.001984 1 0 NEK10 152110 broad.mit.edu 37 3 27243984 27243985 + Missense_Mutation DNP GG GG AA TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:27243984_27243985GG>AA uc010hfk.2 - 3 319_320 c.90_91CC>TT c.(88-93)ATCCTT>ATTTTT p.L31F NEK10_uc003cds.1_Missense_Mutation_p.L116F|NEK10_uc010hfj.2_Missense_Mutation_p.L31F Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 719 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 ATCTGATAAAGGATGCAGCCTA 0.49 NA 6 36 0 0 0.004672 0 0 SLC4A7 9497 broad.mit.edu 37 3 27473044 27473044 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:27473044T>C uc003cdv.2 - 7 939 c.868A>G c.(868-870)AGA>GGA p.R290G SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_Intron|SLC4A7_uc003cdu.3_Intron|SLC4A7_uc011aww.1_Missense_Mutation_p.R299G|SLC4A7_uc011awx.1_Missense_Mutation_p.R286G|SLC4A7_uc011awy.1_Missense_Mutation_p.R282G|SLC4A7_uc011awz.1_Intron|SLC4A7_uc011axa.1_Intron|SLC4A7_uc011axb.1_Missense_Mutation_p.R286G|SLC4A7_uc010hfm.2_Intron|SLC4A7_uc003cdw.2_Intron NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 290 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 GTTCCAGCTCTTGAAGAAGGA 0.527 NA 14 45 0 0 0.003163 0 0 TRANK1 9881 broad.mit.edu 37 3 36893753 36893753 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:36893753C>T uc003cgj.2 - 4 3153 c.2851G>A c.(2851-2853)GGC>AGC p.G951S NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1501 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCAAAGAGGCCAGAATCCCTT 0.438 NA 9 19 0 0 0.004482 0 0 TRANK1 9881 broad.mit.edu 37 3 36896851 36896851 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:36896851G>A uc003cgj.2 - 3 2882 c.2580C>T c.(2578-2580)ATC>ATT p.I860I NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1410 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGGGGTCATTGATGCATTTCA 0.557 NA 32 93 0 0 0.009535 0 0 CX3CR1 1524 broad.mit.edu 37 3 39306967 39306967 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:39306967T>A uc003cjl.2 - 2 1126 c.1034A>T c.(1033-1035)CAC>CTC p.H345L NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 345 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) ATCACTCGTGTGGTAAGTAAA 0.498 NA 30 91 0 0 0.012213 0 0 LTF 4057 broad.mit.edu 37 3 46496868 46496868 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:46496868C>T uc003cpq.2 - 5 602 c.564G>A c.(562-564)CTG>CTA p.L188L LTF_uc003fzr.2_Silent_p.L144L|LTF_uc010hjh.2_Silent_p.L188L|LTF_uc003cpr.2_Silent_p.L175L NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 188 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ACAGGCGACACAGGTTGGGGA 0.552 NA 12 28 0 0 0.010729 0 0 SETD2 29072 broad.mit.edu 37 3 47088029 47088029 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:47088029G>C uc003cqs.2 - 16 7099 c.7046C>G c.(7045-7047)GCC>GGC p.A2349G SETD2_uc003cqv.2_Missense_Mutation_p.A2416G|SETD2_uc003cqr.2_5'UTR NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 2349 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CACTGCTGCGGCTGGCTGTAC 0.463 NA N|F|S|Mis clear cell renal carcinoma 9 36 0 0 0.006214 0 0 SCAP 22937 broad.mit.edu 37 3 47458687 47458687 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:47458687G>A uc003crh.1 - 18 3236 c.2981C>T c.(2980-2982)GCC>GTC p.A994V SCAP_uc011baz.1_Missense_Mutation_p.A738V|SCAP_uc003crg.2_Missense_Mutation_p.A601V NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 994 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 2. A -> S (in Ref. 6; BAC11673). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCCTTCAATGGCGTCCCACAC 0.632 Pancreas(149;978 1908 29304 37806 46700) NA 6 25 0 0 0.001168 0 0 CELSR3 1951 broad.mit.edu 37 3 48678894 48678894 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:48678894C>T uc003cul.2 - 33 9169 c.8888G>A c.(8887-8889)TGT>TAT p.C2963Y CELSR3_uc003cuf.1_Missense_Mutation_p.C3061Y|CELSR3_uc010hkf.2_Missense_Mutation_p.C253Y|CELSR3_uc010hkg.2_Missense_Mutation_p.C946Y NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2963 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGCAGAGCACAGGGGGCTGC 0.622 NA 11 56 0 0 0.001855 0 0 ABHD14B 84836 broad.mit.edu 37 3 52004084 52004084 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:52004084G>A uc003dcm.2 - 3 1216 c.328C>T c.(328-330)CCA>TCA p.P110S PCBP4_uc003dch.1_5'Flank|PCBP4_uc003dci.1_5'Flank|PCBP4_uc003dcj.1_5'Flank|PCBP4_uc003dck.1_5'Flank|ABHD14B_uc010hly.2_Intron|ABHD14B_uc011bdy.1_Missense_Mutation_p.P110S|ABHD14B_uc003dcn.2_Missense_Mutation_p.P110S|ABHD14B_uc011bdz.1_Missense_Mutation_p.P110S NM_032750 NP_116139 Q96IU4 ABHEB_HUMAN abhydrolase domain containing 14B 110 cytoplasm|nucleus hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072) CTCAGTGATGGACTGATCACA 0.647 NA 14 33 0 0 0.001855 0 0 CACNA1D 776 broad.mit.edu 37 3 53810922 53810922 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:53810922T>A uc003dgv.3 + 37 4689 c.4526T>A c.(4525-4527)CTT>CAT p.L1509H CACNA1D_uc003dgu.3_Missense_Mutation_p.L1529H|CACNA1D_uc003dgy.3_Missense_Mutation_p.L1494H|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1176H|CACNA1D_uc003dgx.1_Missense_Mutation_p.L685H NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1509 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTCACTCTGCTTCGACGCATC 0.522 NA 11 25 0 0 0.001368 0 0 CCDC66 285331 broad.mit.edu 37 3 56627757 56627757 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:56627757G>A uc003dhz.2 + 9 1394 c.1307G>A c.(1306-1308)AGT>AAT p.S436N CCDC66_uc003dhy.2_Missense_Mutation_p.S72N|CCDC66_uc003dhu.2_Missense_Mutation_p.S402N|CCDC66_uc003dhx.2_RNA NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 436 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) ATGGCAAACAGTAAGAAAACA 0.378 NA 6 31 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89468424 89468424 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:89468424A>G uc003dqy.2 + 11 2183 c.1958A>G c.(1957-1959)AAG>AGG p.K653R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 653 Cytoplasmic (Potential).|Protein kinase. ATP (By similarity). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTGGCCATTAAGACCCTGAAA 0.428 NA TSP Lung(6;0.00050) 7 30 0 0 0.001984 0 0 EPHA3 2042 broad.mit.edu 37 3 89498443 89498443 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:89498443C>G uc003dqy.2 + 14 2640 c.2415C>G c.(2413-2415)AGC>AGG p.S805R EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 805 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGTCAGCCAGCGATGTATGGA 0.438 NA TSP Lung(6;0.00050) 13 60 0 0 0.00245 0 0 DCBLD2 131566 broad.mit.edu 37 3 98520492 98520492 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:98520492T>G uc003dtd.2 - 14 2035 c.1672A>C c.(1672-1674)AAG>CAG p.K558Q DCBLD2_uc003dte.2_Missense_Mutation_p.K558Q NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 558 Cytoplasmic (Potential). cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 GTTTTTTTCTTTCTGGAAAAA 0.333 NA 3 10 0 0 0.009096 0 0 DCBLD2 131566 broad.mit.edu 37 3 98538181 98538181 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:98538181C>G uc003dtd.2 - 8 1315 c.952G>C c.(952-954)GAC>CAC p.D318H DCBLD2_uc003dte.2_Missense_Mutation_p.D318H NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 318 Extracellular (Potential).|F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 CCTGTGTGGTCAGTCCACTCC 0.483 NA 8 40 0 0 0.006214 0 0 IMPG2 50939 broad.mit.edu 37 3 100951668 100951668 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:100951668C>G uc003duq.1 - 15 3393 c.3190G>C c.(3190-3192)GAT>CAT p.D1064H IMPG2_uc011bhe.1_Missense_Mutation_p.D927H|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1064 Extracellular (Potential).|EGF-like 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CACTTTCCATCATTCAAGCAG 0.458 NA 16 35 0 0 0.004007 0 0 CCDC54 84692 broad.mit.edu 37 3 107096565 107096565 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:107096565G>A uc003dwi.1 + 1 378 c.131G>A c.(130-132)GGA>GAA p.G44E NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 44 0 GATTCAACTGGATATCCCACT 0.398 NA 27 53 0 0 0.008361 0 0 DPPA4 55211 broad.mit.edu 37 3 109049546 109049546 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:109049546C>A uc003dxq.3 - 5 559 c.504G>T c.(502-504)GTG>GTT p.V168V DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Silent_p.V168V NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 168 nucleus protein binding upper_aerodigestive_tract(1) 1 GAGGAAGAGCCACTTCAGGAG 0.498 NA 20 65 4.35082e-09 5.12575e-09 0.010504 1 0 PVRL3 25945 broad.mit.edu 37 3 110831156 110831156 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:110831156T>A uc003dxt.1 + 2 440 c.440T>A c.(439-441)ATC>AAC p.I147N PVRL3_uc003dxu.1_Missense_Mutation_p.I124N NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 147 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 GGAAAATACATCTGCAAAGCT 0.373 NA 16 24 0 0 0.007413 0 0 POLQ 10721 broad.mit.edu 37 3 121202241 121202241 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:121202241C>G uc003eee.3 - 18 6091 c.5962G>C c.(5962-5964)GAT>CAT p.D1988H POLQ_uc003eed.2_Missense_Mutation_p.D1160H NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1988 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) ACCTTAGGATCTTCATAACTT 0.299 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 4 22 0 0 0.009096 0 0 MYLK 4638 broad.mit.edu 37 3 123357040 123357040 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:123357040C>T uc003ego.2 - 29 5121 c.4839G>A c.(4837-4839)GAG>GAA p.E1613E MYLK_uc010hrr.2_Silent_p.E48E|MYLK_uc011bjv.1_Silent_p.E413E|MYLK_uc011bjw.1_Silent_p.E1613E|MYLK_uc003egp.2_Silent_p.E1544E|MYLK_uc003egq.2_Silent_p.E1613E|MYLK_uc003egr.2_Silent_p.E1544E|MYLK_uc003egs.2_Silent_p.E1437E NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1613 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACCCCGCATTCTCTGAAACCA 0.552 NA 8 42 0 0 0.00308 0 0 TMCC1 23023 broad.mit.edu 37 3 129389241 129389241 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:129389241C>A uc003emz.3 - 5 1944 c.1443G>T c.(1441-1443)GAG>GAT p.E481D TMCC1_uc003emy.3_Missense_Mutation_p.E157D|TMCC1_uc011blc.1_Missense_Mutation_p.E302D|TMCC1_uc010htg.2_Missense_Mutation_p.E367D NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 481 Potential. integral to membrane skin(1) 1 CCTTGAGAGTCTCAAAGGATT 0.428 NA 44 63 2.47872e-24 3.21707e-24 0.010771 1 0 RAB6B 51560 broad.mit.edu 37 3 133557009 133557009 + Splice_Site SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:133557009C>A uc003epy.2 - 6 876 c.495_splice c.e6+1 p.Q165_splice RAB6B_uc011blu.1_Splice_Site_p.Q152_splice NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN RAB6B, member RAS oncogene family protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|Golgi membrane GTP binding|GTPase activity|protein binding pancreas(1) 1 TGTGTCCTCACCTGCTTCACG 0.488 NA 45 88 2.77807e-22 3.5718e-22 0.013114 1 0 ATR 545 broad.mit.edu 37 3 142274977 142274977 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:142274977T>C uc003eux.3 - 10 2205 c.2083A>G c.(2083-2085)AAA>GAA p.K695E NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 695 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCTTTGACTTTATCTCTGGGG 0.328 NA Other_conserved_DNA_damage_response_genes 15 31 0 0 0.006122 0 0 ZIC1 7545 broad.mit.edu 37 3 147128441 147128441 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:147128441T>A uc003ewe.2 + 1 1261 c.542T>A c.(541-543)GTG>GAG p.V181E NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 181 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TACGGCCAGGTGACCAGCCCG 0.687 NA 6 28 0 0 0.001984 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908564 164908564 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:164908564G>T uc003fej.3 - 2 499 c.55C>A c.(55-57)CTT>ATT p.L19I SLITRK3_uc003fek.2_Missense_Mutation_p.L19I NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 19 integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GTGCTTAGAAGAATTATCCAC 0.418 NA HNSCC(40;0.11) 10 25 4.68919e-08 5.39699e-08 0.008291 1 0 ZBBX 79740 broad.mit.edu 37 3 167000157 167000157 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:167000157G>T uc003fep.2 - 19 2329 c.2006C>A c.(2005-2007)GCT>GAT p.A669D ZBBX_uc011bpc.1_Missense_Mutation_p.A708D|ZBBX_uc003feq.2_Missense_Mutation_p.A640D NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 669 Ser-rich. intracellular zinc ion binding ovary(2) 2 TTCAGAAGCAGCTCTAGATGA 0.373 NA 16 67 6.31663e-08 7.25487e-08 0.003163 1 0 TTC14 151613 broad.mit.edu 37 3 180328193 180328193 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:180328193G>C uc003fkk.2 + 12 2308 c.2176G>C c.(2176-2178)GTT>CTT p.V726L TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 726 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CAAAACAGAGGTTCCAGAAGA 0.343 NA 12 65 0 0 0.001368 0 0 DGKG 1608 broad.mit.edu 37 3 186015891 186015891 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:186015891G>A uc003fqa.2 - 4 809 c.272C>T c.(271-273)CCG>CTG p.P91L DGKG_uc003fqb.2_Missense_Mutation_p.P91L|DGKG_uc003fqc.2_Missense_Mutation_p.P91L|DGKG_uc011brx.1_Missense_Mutation_p.P91L NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 91 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCCTCCGTCGGGTGGTCAGA 0.612 NA 34 89 0 0 0.002836 0 0 TBCCD1 55171 broad.mit.edu 37 3 186274291 186274291 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:186274291G>C uc003fqg.2 - 4 895 c.766C>G c.(766-768)CTG>GTG p.L256V TBCCD1_uc011bry.1_Missense_Mutation_p.L256V|TBCCD1_uc003fqh.2_Missense_Mutation_p.L160V NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 256 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding large_intestine(1)|ovary(1) 2 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CAGGTTTCCAGTTTGTAGAAA 0.443 NA 8 52 0 0 0.00308 0 0 KNG1 3827 broad.mit.edu 37 3 186450463 186450463 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:186450463G>A uc011bsa.1 + 7 1142 c.930G>A c.(928-930)CAG>CAA p.Q310Q KNG1_uc003fqr.2_Silent_p.Q310Q NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 310 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CAAGAGTACAGGTGTGTAAAC 0.388 NA 26 57 0 0 0.003954 0 0 KNG1 3827 broad.mit.edu 37 3 186459574 186459574 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:186459574T>C uc011bsa.1 + 10 1601 c.1389T>C c.(1387-1389)CAT>CAC p.H463H KNG1_uc003fqr.2_Intron NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 463 |His-rich. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GCCTTGGCCATGGACACGAAC 0.478 NA 8 20 0 0 0.006214 0 0 ZNF595 152687 broad.mit.edu 37 4 60018 60018 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:60018G>A uc003fzv.1 + 3 354 c.198G>A c.(196-198)AAG>AAA p.K66K ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Silent_p.K66K|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 66 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GCAATTTGAAGATACATGAGA 0.453 NA 7 132 0 0 0.008291 0 0 TMEM175 84286 broad.mit.edu 37 4 944993 944993 + Splice_Site SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:944993A>T uc003gbq.2 + 5 389 c.291_splice c.e5-2 p.R97_splice TMEM175_uc010ibl.1_Splice_Site_p.R97_splice|TMEM175_uc003gbp.1_Splice_Site_p.R15_splice|TMEM175_uc003gbr.2_Splice_Site_p.R15_splice|TMEM175_uc003gbu.2_Splice_Site_p.R15_splice|TMEM175_uc003gbs.2_Splice_Site|TMEM175_uc003gbt.2_Splice_Site|TMEM175_uc003gbv.2_Splice_Site|TMEM175_uc010ibm.2_5'Flank NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TAAATGGTTTAGGTTGTTCCA 0.403 NA 22 60 0 0 0.012319 0 0 TMEM175 84286 broad.mit.edu 37 4 952199 952199 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:952199G>A uc003gbq.2 + 11 1528 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q TMEM175_uc003gbr.2_Missense_Mutation_p.R395Q|TMEM175_uc003gbu.2_Missense_Mutation_p.R395Q|TMEM175_uc003gbs.2_Missense_Mutation_p.R360Q|TMEM175_uc003gbt.2_Missense_Mutation_p.R360Q|TMEM175_uc003gbv.2_Missense_Mutation_p.R360Q|TMEM175_uc010ibm.2_Missense_Mutation_p.R293Q NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 477 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGGTCCTGCGGGGCCTCGCC 0.726 NA 13 25 0 0 0.001368 0 0 KIAA1530 57654 broad.mit.edu 37 4 1343515 1343515 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:1343515C>T uc003gde.3 + 3 749 c.302C>T c.(301-303)CCC>CTC p.P101L NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 101 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CCTCTGCCGCCCCCCAGGGAG 0.637 NA 19 35 0 0 0.008871 0 0 NOP14 8602 broad.mit.edu 37 4 2945798 2945798 + Splice_Site SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:2945798A>T uc003ggj.1 - 13 1963 c.1891_splice c.e13+1 p.G631_splice C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Splice_Site_p.G377_splice|NOP14_uc003ggk.3_Splice_Site_p.G631_splice|NOP14_uc003ggl.2_Splice_Site_p.G631_splice NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 AAATCAACTCACCTTGGCTTG 0.353 NA 15 29 0 0 0.00245 0 0 WDR1 9948 broad.mit.edu 37 4 10079485 10079485 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:10079485C>A uc003gmf.2 - 13 1744 c.1461G>T c.(1459-1461)GAG>GAT p.E487D WDR1_uc003gmg.2_Missense_Mutation_p.E347D|WDR1_uc010idm.2_RNA NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 487 WD 9. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) GGCCCTTGGCCTCTAGGAGCT 0.647 NA 8 12 1.76689e-08 2.06828e-08 0.006214 1 0 SLIT2 9353 broad.mit.edu 37 4 20535276 20535276 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:20535276G>A uc003gpr.1 + 18 1974 c.1770G>A c.(1768-1770)ACG>ACA p.T590T SLIT2_uc003gps.1_Silent_p.T582T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 590 LRR 14. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TACTTCTTACGAGTAATCGTT 0.348 NA 19 61 0 0 0.008871 0 0 RBPJ 3516 broad.mit.edu 37 4 26432131 26432131 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:26432131G>C uc003grx.1 + 11 1410 c.1174G>C c.(1174-1176)GAA>CAA p.E392Q RBPJ_uc003gry.1_Missense_Mutation_p.E377Q|RBPJ_uc003grz.1_Missense_Mutation_p.E392Q|RBPJ_uc003gsa.1_Missense_Mutation_p.E378Q|RBPJ_uc003gsb.1_Missense_Mutation_p.E379Q|RBPJ_uc003gsc.1_Intron|uc003gsd.2_5'Flank NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 392 IPT/TIG. DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) TGTAGAAGCTGAAACTATGTA 0.428 NA 7 49 0 0 0.004482 0 0 CCKAR 886 broad.mit.edu 37 4 26490979 26490979 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:26490979G>A uc003gse.1 - 2 393 c.240C>T c.(238-240)CTC>CTT p.L80L NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 80 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) CCAGGGAGAGGAGGAAGATGT 0.547 NA 11 48 0 0 0.008291 0 0 KLHL5 51088 broad.mit.edu 37 4 39105076 39105076 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:39105076C>T uc003gts.2 + 7 1683 c.1608C>T c.(1606-1608)CCC>CCT p.P536P KLHL5_uc003gtp.2_Silent_p.P490P|KLHL5_uc003gtq.2_Silent_p.P349P|KLHL5_uc003gtr.1_Silent_p.P536P|KLHL5_uc003gtt.2_Silent_p.P475P NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 536 Kelch 2. cytoplasm|cytoskeleton actin binding ovary(1) 1 GCTACAACCCCAAAACAAAAA 0.443 NA 13 93 0 0 0.004007 0 0 UGDH 7358 broad.mit.edu 37 4 39512080 39512080 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:39512080G>C uc003guk.1 - 5 872 c.556C>G c.(556-558)CCA>GCA p.P186A UGDH_uc011byp.1_Missense_Mutation_p.P89A|UGDH_uc003gul.1_Missense_Mutation_p.P119A NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 186 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TGGCCCTCTGGAGTTTCATCC 0.517 NA 13 95 0 0 0.001855 0 0 GABRA4 2557 broad.mit.edu 37 4 46967176 46967176 + Silent SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:46967176A>G uc003gxg.2 - 8 1084 c.945T>C c.(943-945)TAT>TAC p.Y315Y NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 315 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGCGGTAGCATAGGACACTT 0.438 Ovarian(6;283 369 8234 12290 33402) NA 26 61 0 0 0.003954 0 0 GABRB1 2560 broad.mit.edu 37 4 47033973 47033973 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:47033973G>T uc003gxh.2 + 2 497 c.123G>T c.(121-123)GTG>GTT p.V41V GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.V41V|GABRB1_uc010igg.2_RNA NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 41 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AAGAGACAGTGGACAGATTGC 0.448 NA 56 166 9.53978e-28 1.25295e-27 0.00361 1 0 FRYL 285527 broad.mit.edu 37 4 48542798 48542798 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:48542798C>G uc003gyh.1 - 46 6472 c.5867G>C c.(5866-5868)CGG>CCG p.R1956P FRYL_uc003gyg.1_Missense_Mutation_p.R652P|FRYL_uc003gyi.1_Missense_Mutation_p.R844P|FRYL_uc003gyj.1_Missense_Mutation_p.R251P NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1956 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TGTGTTACTCCGCCGCCGGTC 0.418 NA 18 38 0 0 0.007413 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074182 70074182 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:70074182G>C uc003heh.2 - 3 898 c.889C>G c.(889-891)CAG>GAG p.Q297E uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 297 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 CCAGAGCTCTGTACAAACTCC 0.403 NA 29 142 0 0 0.002836 0 0 NKX6-1 4825 broad.mit.edu 37 4 85419026 85419026 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:85419026G>C uc003hpa.1 - 1 362 c.356C>G c.(355-357)TCG>TGG p.S119W NM_006168 NP_006159 P78426 NKX61_HUMAN NK6 transcription factor related, locus 1 119 Poly-Ser.|Repressor domain (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) accggagggcgaggcggaggG 0.358 NA 3 10 0 0 0.004672 0 0 WDFY3 23001 broad.mit.edu 37 4 85687123 85687123 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:85687123C>T uc003hpd.2 - 32 5436 c.5028G>A c.(5026-5028)GAG>GAA p.E1676E NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1676 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTAAGTGTTCCTCCATAAACA 0.368 NA 28 39 0 0 0.010818 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170789 90170789 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:90170789G>A uc003hsm.1 - 2 992 c.473C>T c.(472-474)TCA>TTA p.S158L NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 158 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGTTCTCTGTGATCTCATCAG 0.517 NA 23 106 0 0 0.00278 0 0 ATOH1 474 broad.mit.edu 37 4 94750827 94750827 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:94750827C>A uc003hta.1 + 1 750 c.750C>A c.(748-750)AAC>AAA p.N250K NM_005172 NP_005163 Q92858 ATOH1_HUMAN atonal homolog 1 250 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GCGCGGGCAACGCGACCGCAG 0.726 NA 15 12 0.000219431 0.000235749 0.00245 1 0 DKK2 27123 broad.mit.edu 37 4 107845337 107845337 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:107845337C>A uc003hyi.2 - 4 1259 c.554G>T c.(553-555)CGA>CTA p.R185L DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 185 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GTCTGATGATCGTAGGCAGGG 0.453 NA 19 31 5.35267e-07 6.10938e-07 0.007413 1 0 C4orf21 55345 broad.mit.edu 37 4 113475105 113475105 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:113475105C>A uc003iau.2 - 22 5443 c.5232G>T c.(5230-5232)CAG>CAT p.Q1744H C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.Q202H NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 566 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GTTCTTTTAACTGTTCACTTT 0.348 NA 14 52 1.99824e-07 2.28548e-07 0.00499 1 0 C4orf21 55345 broad.mit.edu 37 4 113540608 113540608 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:113540608G>A uc003iau.2 - 6 801 c.590C>T c.(589-591)TCT>TTT p.S197F C4orf21_uc003iaw.2_Missense_Mutation_p.S197F NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GAAGGATGGAGAAAAAACCGA 0.383 NA 7 16 0 0 0.001984 0 0 NDST4 64579 broad.mit.edu 37 4 115858642 115858642 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:115858642G>C uc003ibu.2 - 5 1918 c.1239C>G c.(1237-1239)ATC>ATG p.I413M NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 413 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGCCCATGTTGATTGGTATTC 0.408 NA 4 29 0 0 0.009096 0 0 SYNPO2 171024 broad.mit.edu 37 4 119944633 119944633 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:119944633G>A uc003icm.3 + 2 350 c.154G>A c.(154-156)GAA>AAA p.E52K SYNPO2_uc010ina.2_Missense_Mutation_p.E52K|SYNPO2_uc010inb.2_Missense_Mutation_p.E52K|SYNPO2_uc011cgh.1_Missense_Mutation_p.E52K|SYNPO2_uc010inc.2_5'UTR NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 52 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TGAGGGAGATGAAGTGGTTTC 0.423 NA 9 21 0 0 0.004482 0 0 ANKRD50 57182 broad.mit.edu 37 4 125591188 125591188 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:125591188T>C uc003ifg.3 - 3 3510 c.3244A>G c.(3244-3246)ATG>GTG p.M1082V ANKRD50_uc011cgo.1_Missense_Mutation_p.M903V|ANKRD50_uc010inw.2_Missense_Mutation_p.M1082V NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1082 ANK 19. central_nervous_system(1) 1 GCAACACGCATAGCAGTGCGT 0.423 NA 11 44 0 0 0.008291 0 0 FAT4 79633 broad.mit.edu 37 4 126242530 126242530 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:126242530G>T uc003ifj.3 + 1 4964 c.4964G>T c.(4963-4965)AGC>ATC p.S1655I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1655 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAAGCAGCTAGCCCCAGAGGA 0.428 NA 7 57 8.12818e-05 8.76694e-05 0.001984 1 0 SLC25A31 83447 broad.mit.edu 37 4 128651878 128651878 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:128651878G>A uc003ifl.2 + 1 324 c.178G>A c.(178-180)GAG>AAG p.E60K NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 60 Solcar 1. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 GATCAGCCCCGAGGCGCGGTA 0.697 NA 6 31 0 0 0.001984 0 0 GAB1 2549 broad.mit.edu 37 4 144359702 144359702 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:144359702C>T uc003ije.2 + 4 1503 c.1144C>T c.(1144-1146)CCT>TCT p.P382S GAB1_uc003ijd.2_Missense_Mutation_p.P382S|GAB1_uc011chq.1_Missense_Mutation_p.P279S NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 382 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) AGGGATGTCGCCTTCACGTAG 0.443 NA 11 51 0 0 0.008291 0 0 NR3C2 4306 broad.mit.edu 37 4 149002645 149002645 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:149002645C>T uc003ilj.3 - 9 3139 c.2805G>A c.(2803-2805)GTG>GTA p.V935V NR3C2_uc003ilk.3_Silent_p.V818V|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 935 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GCAGGTCGCTCACCAGCTGTA 0.567 Melanoma(27;428 957 40335 51025 51111) NA 5 20 0 0 0.001168 0 0 FGA 2243 broad.mit.edu 37 4 155507040 155507040 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:155507040G>T uc003iod.1 - 5 1599 c.1541C>A c.(1540-1542)CCT>CAT p.P514H FGA_uc003ioe.1_Missense_Mutation_p.P514H|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 514 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGCTTCATCAGGGTGCCTATG 0.502 NSCLC(143;340 1922 20892 22370 48145) NA 22 61 2.21704e-12 2.69281e-12 0.00278 1 0 GUCY1A3 2982 broad.mit.edu 37 4 156638369 156638369 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:156638369C>A uc003iov.2 + 9 2167 c.1631C>A c.(1630-1632)ACT>AAT p.T544N GUCY1A3_uc010iqc.2_Missense_Mutation_p.T544N|GUCY1A3_uc003iow.2_Missense_Mutation_p.T544N|GUCY1A3_uc010iqd.2_Missense_Mutation_p.T543N|GUCY1A3_uc003iox.2_Missense_Mutation_p.T544N|GUCY1A3_uc003ioz.2_Missense_Mutation_p.T309N|GUCY1A3_uc003ioy.2_Missense_Mutation_p.T544N|GUCY1A3_uc010iqe.2_Missense_Mutation_p.T309N|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.T544N NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 544 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAGAGTGATACTCATGCTGTT 0.433 NA 12 33 6.40141e-05 6.93171e-05 0.010729 1 0 RXFP1 59350 broad.mit.edu 37 4 159568066 159568066 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:159568066C>G uc003ipz.2 + 16 1551 c.1469C>G c.(1468-1470)TCT>TGT p.S490C RXFP1_uc011cja.1_Missense_Mutation_p.S385C|RXFP1_uc010iqo.2_Missense_Mutation_p.S442C|RXFP1_uc011cjb.1_Missense_Mutation_p.S388C|RXFP1_uc010iqk.2_Missense_Mutation_p.S358C|RXFP1_uc011cjc.1_Missense_Mutation_p.S409C|RXFP1_uc011cjd.1_Missense_Mutation_p.S409C|RXFP1_uc010iql.2_Missense_Mutation_p.S334C|RXFP1_uc011cje.1_Missense_Mutation_p.S517C|RXFP1_uc010iqm.2_Missense_Mutation_p.S457C|RXFP1_uc011cjf.1_Missense_Mutation_p.S359C|RXFP1_uc010iqn.2_Missense_Mutation_p.S435C NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 490 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CTTGTAGGATCTTTGGCCATT 0.398 NA 8 28 0 0 0.00308 0 0 NAF1 92345 broad.mit.edu 37 4 164050300 164050300 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:164050300G>A uc003iqj.2 - 8 1428 c.1234C>T c.(1234-1236)CAG>TAG p.Q412* NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 412 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) TTTTGTCTCTGAGAAGGAAAT 0.413 NA 9 25 0 0 0.004482 0 0 DDX60L 91351 broad.mit.edu 37 4 169362539 169362539 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:169362539G>C uc003irq.3 - 10 1464 c.1243C>G c.(1243-1245)CTG>GTG p.L415V DDX60L_uc003irr.1_Missense_Mutation_p.L415V|DDX60L_uc003irs.1_Missense_Mutation_p.L142V NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 415 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GTTGTTCTCAGAGGAAAAGAC 0.368 NA 22 48 0 0 0.012319 0 0 PDLIM3 27295 broad.mit.edu 37 4 186425632 186425632 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:186425632A>G uc003ixw.3 - 7 1026 c.902T>C c.(901-903)ATA>ACA p.I301T PDLIM3_uc003ixx.3_Missense_Mutation_p.I253T|PDLIM3_uc010isi.2_RNA NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 301 LIM zinc-binding. sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) AACTTACACTATGCCACTCCC 0.493 NA 9 28 0 0 0.006214 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146374 5146374 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:5146374G>A uc003jdl.2 + 3 445 c.307G>A c.(307-309)GGC>AGC p.G103S ADAMTS16_uc003jdk.1_Missense_Mutation_p.G103S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G103S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 103 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCGGCTGAAAGGCTCCAGGCA 0.557 NA 15 36 0 0 0.00278 0 0 ADCY2 108 broad.mit.edu 37 5 7804778 7804778 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:7804778C>G uc003jdz.1 + 22 2923 c.2856C>G c.(2854-2856)AGC>AGG p.S952R ADCY2_uc011cmo.1_Missense_Mutation_p.S772R|ADCY2_uc010itm.1_Missense_Mutation_p.S148R NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 952 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CAGGTCTGAGCGCTGTGCCCA 0.527 NA 8 46 0 0 0.00308 0 0 MTRR 4552 broad.mit.edu 37 5 7870910 7870910 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:7870910G>T uc003jed.2 + 2 114 c.84G>T c.(82-84)ATG>ATT p.M28I FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 28 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TTGAAGTGATGAGGAGGTTTC 0.403 NA 19 24 3.99206e-14 4.91399e-14 0.007413 1 0 CDH18 1016 broad.mit.edu 37 5 19473630 19473630 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:19473630G>T uc003jgc.2 - 12 2455 c.2078C>A c.(2077-2079)CCT>CAT p.P693H CDH18_uc003jgd.2_Missense_Mutation_p.P693H|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 693 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTCACTTCAGGTCTGATATC 0.502 NA 16 69 1.3612e-06 1.53135e-06 0.003163 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33527457 33527457 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:33527457T>G uc003jia.1 - 24 4784 c.4621A>C c.(4621-4623)AAG>CAG p.K1541Q ADAMTS12_uc010iuq.1_Missense_Mutation_p.K1456Q NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1541 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGTTTGTCCTTAGTGCAAAGT 0.423 NA HNSCC(64;0.19) 13 42 0 0 0.001368 0 0 IL7R 3575 broad.mit.edu 37 5 35867450 35867450 + Silent SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:35867450A>G uc003jjs.2 + 3 353 c.264A>G c.(262-264)CTA>CTG p.L88L IL7R_uc011coo.1_Silent_p.L88L|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 88 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCAGGAAACTACAAGAGATAT 0.398 NA 7 34 0 0 0.001984 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41004621 41004621 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:41004621G>A uc003jmj.3 - 37 4511 c.4021C>T c.(4021-4023)CAT>TAT p.H1341Y HEATR7B2_uc003jmi.3_Missense_Mutation_p.H896Y NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1341 binding ovary(6)|central_nervous_system(2) 8 AACTGCTTATGTTTCTTCACC 0.393 NA 10 22 0 0 0.006214 0 0 OXCT1 5019 broad.mit.edu 37 5 41870434 41870434 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:41870434G>A uc003jmn.2 - 1 358 c.27C>T c.(25-27)TCC>TCT p.S9S NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 9 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) GCCGAAGCCCGGAGGAGAGGA 0.652 NA 6 24 0 0 0.001984 0 0 PDE8B 8622 broad.mit.edu 37 5 76649204 76649204 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:76649204G>T uc003kfa.2 + 10 1185 c.1140G>T c.(1138-1140)CTG>CTT p.L380L PDE8B_uc003kfb.2_Silent_p.L360L|PDE8B_uc003kfc.2_Silent_p.L380L|PDE8B_uc003kfd.2_Silent_p.L333L|PDE8B_uc003kfe.2_Intron NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 380 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TCAAGAAACTGTGTTGTACCA 0.373 NA 18 15 1.96895e-08 2.2999e-08 0.00278 1 0 GPR98 84059 broad.mit.edu 37 5 90106906 90106906 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:90106906C>T uc003kju.2 + 74 15925 c.15829C>T c.(15829-15831)CGT>TGT p.R5277C GPR98_uc003kjt.2_Missense_Mutation_p.R2983C|GPR98_uc003kjw.2_Missense_Mutation_p.R938C NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5277 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGCCCTTTCGTGGTATCTA 0.413 NA 20 29 0 0 0.007413 0 0 FAM170A 340069 broad.mit.edu 37 5 118969672 118969672 + Nonsense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:118969672C>T uc003ksm.2 + 3 439 c.229C>T c.(229-231)CGA>TGA p.R77* FAM170A_uc003ksl.2_Nonsense_Mutation_p.R77*|FAM170A_uc003ksn.2_Nonsense_Mutation_p.R77*|FAM170A_uc003kso.2_Nonsense_Mutation_p.R30* NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 77 intracellular zinc ion binding skin(1) 1 GAGAATACATCGAGACAGCCC 0.512 NA 10 42 0 0 0.010729 0 0 FBN2 2201 broad.mit.edu 37 5 127714528 127714528 + Silent SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:127714528A>G uc003kuu.2 - 12 2098 c.1659T>C c.(1657-1659)CCT>CCC p.P553P FBN2_uc003kuv.2_Silent_p.P520P NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 553 EGF-like 7; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATAGGAACCAGGTGTGTTAA 0.398 NA 32 28 0 0 0.010818 0 0 RAD50 10111 broad.mit.edu 37 5 131973867 131973867 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:131973867G>A uc003kxi.2 + 23 3957 c.3570G>A c.(3568-3570)AAG>AAA p.K1190K RAD50_uc003kxh.2_Silent_p.K1051K NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 1190 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGATGCTGAAGGGAGACACAG 0.453 NA Homologous_recombination 7 13 0 0 0.00308 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188961 140188961 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140188961G>C uc003lhi.2 + 1 2290 c.2189G>C c.(2188-2190)GGC>GCC p.G730A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G730A|PCDHA4_uc011daa.1_Missense_Mutation_p.G730A NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 730 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCACCGAGGGCGCGTGCGCT 0.662 NA 26 35 0 0 0.004656 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230279 140230279 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140230279G>A uc003lhu.2 + 1 2923 c.2199G>A c.(2197-2199)GCG>GCA p.A733A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.A733A NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 733 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGTGCGCGCCTGGCAAGC 0.637 Melanoma(55;1800 1972 14909) NA 37 35 0 0 0.004878 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554444 140554444 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140554444G>T uc003lit.2 + 1 2202 c.2028G>T c.(2026-2028)GCG>GCT p.A676A PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 676 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCGGAGGCGGCCCCGGACC 0.692 NA 40 99 2.00842e-17 2.5406e-17 0.010771 1 0 PCDHB9 56127 broad.mit.edu 37 5 140568964 140568964 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140568964G>T uc003liw.1 + 3 2073 c.2073G>T c.(2071-2073)GTG>GTT p.V691V PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 691 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTACCTGGTGGTGGCGTTGG 0.701 NA 72 121 4.41824e-40 5.98917e-40 0.00361 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604476 140604476 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140604476G>A uc003ljb.2 + 1 1399 c.1399G>A c.(1399-1401)GCC>ACC p.A467T PCDHB14_uc011dal.1_Missense_Mutation_p.A314T NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 467 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACAGCCCCGCCCTGCACAT 0.627 Ovarian(141;50 1831 27899 33809 37648) NA 93 126 0 0 0.00361 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773984 140773985 + Missense_Mutation DNP GC GC TT TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:140773984_140773985GC>TT uc003lkd.1 + 1 2502_2503 c.1604_1605GC>TT c.(1603-1605)AGC>ATT p.S535I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.S535I NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 535 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAACAGCCAGCGACAGCGGGG 0.584 NA 21 91 0 0 0.004672 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997527 146997527 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:146997527A>T uc003loq.1 - 19 2675 c.2293T>A c.(2293-2295)TAT>AAT p.Y765N JAKMIP2_uc011dbx.1_Missense_Mutation_p.Y723N|JAKMIP2_uc003lor.1_Missense_Mutation_p.Y744N|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.Y765N NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 765 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAGTCATACTCTCTGCTC 0.463 NA 14 39 0 0 0.001855 0 0 CPEB4 80315 broad.mit.edu 37 5 173359497 173359497 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:173359497A>G uc003mcs.3 + 3 2658 c.1252A>G c.(1252-1254)ATT>GTT p.I418V CPEB4_uc010jju.1_Intron|CPEB4_uc010jjv.2_Intron|CPEB4_uc011dfg.1_Intron|CPEB4_uc003mct.3_Missense_Mutation_p.I36V|CPEB4_uc003mcu.3_Intron NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 418 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTCTCTGCTTATTAATGGTAA 0.358 NA 21 16 0 0 0.00333 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225515 179225515 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:179225515C>T uc003mks.2 - 12 1789 c.1420G>A c.(1420-1422)GAC>AAC p.D474N MGAT4B_uc003mkp.2_Missense_Mutation_p.D328N|MGAT4B_uc003mkq.2_Missense_Mutation_p.R249Q|MGAT4B_uc003mkr.2_Missense_Mutation_p.D489N|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 474 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAACTTACGTCGAAGGGCAGC 0.607 GBM(13;414 434 4098 22176 23230) NA 6 26 0 0 0.001984 0 0 HUS1B 135458 broad.mit.edu 37 6 656914 656914 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:656914C>T uc003mtg.2 - 1 51 c.31G>A c.(31-33)GGC>AGC p.G11S EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 11 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) TCTAGACAGCCTTTGCCGGTG 0.652 NA 14 39 0 0 0.003163 0 0 RREB1 6239 broad.mit.edu 37 6 7229349 7229349 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:7229349G>A uc003mxc.2 + 10 1407 c.1017G>A c.(1015-1017)GTG>GTA p.V339V RREB1_uc003mxb.2_Silent_p.V339V|RREB1_uc010jnx.2_Silent_p.V339V NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 339 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGACCCATGTGGCGGCAGACC 0.627 NA 6 29 0 0 0.001984 0 0 DSP 1832 broad.mit.edu 37 6 7580467 7580467 + Silent SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:7580467G>C uc003mxp.1 + 23 4323 c.4044G>C c.(4042-4044)CTG>CTC p.L1348L DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1348 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAATGAACTGAGTAAGGTAA 0.443 NA 6 39 0 0 0.001168 0 0 DSP 1832 broad.mit.edu 37 6 7581116 7581116 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:7581116G>C uc003mxp.1 + 23 4972 c.4693G>C c.(4693-4695)GAG>CAG p.E1565Q DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1565 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCTCTGAAAGAGCTGCAGCT 0.542 NA 16 44 0 0 0.004007 0 0 JARID2 3720 broad.mit.edu 37 6 15496899 15496899 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:15496899G>A uc003nbj.2 + 7 1687 c.1443G>A c.(1441-1443)CTG>CTA p.L481L JARID2_uc011diu.1_Silent_p.L345L|JARID2_uc011div.1_Silent_p.L309L|JARID2_uc011diw.1_Silent_p.L443L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 481 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GAGGTCTGCTGAACGGACACG 0.672 NA 6 25 0 0 0.001984 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26234874 26234874 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:26234874C>G uc003nhd.2 - 1 343 c.288G>C c.(286-288)CAG>CAC p.Q96H NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 96 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TACCTTTGGTCTGCACCAGAG 0.527 NA 21 109 0 0 0.012319 0 0 BTN3A3 10384 broad.mit.edu 37 6 26452130 26452130 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:26452130G>A uc003nhz.2 + 11 1426 c.1246G>A c.(1246-1248)GTG>ATG p.V416M BTN3A3_uc003nia.2_Missense_Mutation_p.V374M|BTN3A3_uc011dkn.1_Missense_Mutation_p.V367M NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 416 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 TAGTAAGAACGTGGAGAGGAA 0.498 NA 8 48 0 0 0.00308 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833191 27833191 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:27833191C>G uc003njw.2 + 1 85 c.59C>G c.(58-60)TCT>TGT p.S20C NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 20 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 ACCCGCTCTTCTCGTGCCGGT 0.647 NA 27 82 0 0 0.007291 0 0 BAT2 7916 broad.mit.edu 37 6 31597526 31597526 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:31597526G>A uc003nvb.3 + 14 2407 c.2158G>A c.(2158-2160)GAT>AAT p.D720N BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.D720N NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 720 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 AATGAACTTTGATCCCCGATG 0.647 NA 18 35 0 0 0.008871 0 0 C6orf27 80737 broad.mit.edu 37 6 31737788 31737788 + Nonsense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:31737788G>C uc011dog.1 - 8 1428 c.1190C>G c.(1189-1191)TCA>TGA p.S397* C6orf27_uc003nxd.2_Nonsense_Mutation_p.S72*|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 397 extracellular region ovary(3) 3 CTGCAGGGCTGACAGGCACAT 0.612 NA 3 32 0 0 0.004672 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163228 32163228 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:32163228C>T uc003obb.2 - 30 6137 c.5998G>A c.(5998-6000)GAG>AAG p.E2000K GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'UTR|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.E660K|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 2000 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TTTTTACCCTCTCCTCCTTGG 0.507 NA 11 54 0 0 0.008291 0 0 C6orf10 10665 broad.mit.edu 37 6 32260881 32260881 + Silent SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:32260881A>T uc011dpy.1 - 12 1742 c.1569T>A c.(1567-1569)GGT>GGA p.G523G C6orf10_uc011dpx.1_Intron NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 523 Lys-rich. integral to membrane skin(1) 1 ttcctttgtcaccttttgtgt 0.154 NA 17 37 0 0 0.004007 0 0 TAP2 6891 broad.mit.edu 37 6 32802973 32802973 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:32802973G>A uc003occ.2 - 4 934 c.903C>T c.(901-903)CCC>CCT p.P301P TAP2_uc011dqf.1_Silent_p.P301P|TAP2_uc003ocb.1_Silent_p.P301P|TAP2_uc003ocd.2_Silent_p.P301P NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 301 Involved in peptide-binding site.|Helical; Name=7; (Potential).|ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CTATTGTGAAGGGCATGTGCA 0.542 NA 10 41 0 0 0.006214 0 0 ANKS1A 23294 broad.mit.edu 37 6 35053622 35053622 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:35053622C>T uc003ojx.3 + 22 3354 c.3212C>T c.(3211-3213)TCC>TTC p.S1071F ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.S612F|ANKS1A_uc010jvp.1_Missense_Mutation_p.S445F NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 1071 PID. cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GCCCAGAAGTCCAGGGCGACG 0.592 NA 6 37 0 0 0.001168 0 0 RSPH9 221421 broad.mit.edu 37 6 43638551 43638551 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:43638551G>A uc003ovw.1 + 5 722 c.696G>A c.(694-696)AGG>AGA p.R232R RSPH9_uc003ovx.1_Missense_Mutation_p.G250R NM_152732 NP_689945 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog 232 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton upper_aerodigestive_tract(1)|skin(1) 2 AGATGGAGAGGGGCAATGCCC 0.632 NA Kartagener_syndrome 5 69 0 0 0.000602 0 0 GCM1 8521 broad.mit.edu 37 6 52993489 52993489 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:52993489T>C uc003pbp.2 - 6 1035 c.826A>G c.(826-828)AGT>GGT p.S276G NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 276 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) AGGTCTCCACTACTGTAGGTT 0.498 NA 11 38 0 0 0.001855 0 0 FAM83B 222584 broad.mit.edu 37 6 54806260 54806260 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:54806260A>G uc003pck.2 + 5 2607 c.2491A>G c.(2491-2493)AAG>GAG p.K831E NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 831 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TCCTAGAAGAAAGCATTCTTC 0.378 NA 9 26 0 0 0.004482 0 0 LGSN 51557 broad.mit.edu 37 6 63989943 63989943 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:63989943A>T uc003peh.2 - 4 1547 c.1513T>A c.(1513-1515)TTA>ATA p.L505I LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 505 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) AAATACTCTAAGAATTTATTT 0.323 NA 60 47 0 0 0.00361 0 0 RIMS1 22999 broad.mit.edu 37 6 72889469 72889469 + Silent SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:72889469C>A uc003pga.2 + 5 740 c.663C>A c.(661-663)CCC>CCA p.P221P RIMS1_uc011dyb.1_5'Flank|RIMS1_uc003pgc.2_5'Flank|RIMS1_uc003pgb.3_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 221 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTCAGACACCCCTAAGCACAG 0.602 NA 25 67 1.17739e-12 1.43324e-12 0.005443 1 0 MDN1 23195 broad.mit.edu 37 6 90402199 90402199 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:90402199T>A uc003pnn.1 - 63 10666 c.10550A>T c.(10549-10551)GAC>GTC p.D3517V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3517 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGCCCTCTGGTCCAACTCTCC 0.602 NA 13 24 0 0 0.00245 0 0 MDN1 23195 broad.mit.edu 37 6 90421912 90421912 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:90421912C>G uc003pnn.1 - 49 7610 c.7494G>C c.(7492-7494)CTG>CTC p.L2498L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2498 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATTGAATTTCAGGTTCTCAG 0.398 NA 50 74 0 0 0.00361 0 0 FUT9 10690 broad.mit.edu 37 6 96651885 96651885 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:96651885C>A uc003pop.3 + 3 1195 c.854C>A c.(853-855)TCA>TAA p.S285* NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 285 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CCAGCAGATTCATTCATTCAT 0.383 Melanoma(98;1369 1476 6592 22940 26587) NA 15 26 7.93312e-07 8.97997e-07 0.00245 1 0 KLHL32 114792 broad.mit.edu 37 6 97562061 97562061 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:97562061A>G uc010kcm.1 + 7 1502 c.1030A>G c.(1030-1032)ATG>GTG p.M344V KLHL32_uc003poy.2_Missense_Mutation_p.M344V|KLHL32_uc011ead.1_Missense_Mutation_p.M308V|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.M275V|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 344 Kelch 1. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TGTGGCAGTCATGGGGGACTT 0.572 NA 6 68 0 0 0.001168 0 0 KIAA1919 91749 broad.mit.edu 37 6 111583529 111583529 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:111583529A>G uc003puv.3 + 2 519 c.97A>G c.(97-99)AGT>GGT p.S33G NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 33 Extracellular (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) AAATATCAGTAGTCTGTCTTT 0.373 NA 56 79 0 0 0.00361 0 0 REV3L 5980 broad.mit.edu 37 6 111650886 111650886 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:111650886C>G uc003puy.3 - 25 8413 c.8090G>C c.(8089-8091)AGA>ACA p.R2697T REV3L_uc003pux.3_Missense_Mutation_p.R2619T|REV3L_uc003puz.3_Missense_Mutation_p.R2619T|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2697 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CACCATAAATCTAGTCTTCAA 0.383 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 12 33 0 0 0.010729 0 0 THEMIS 387357 broad.mit.edu 37 6 128134390 128134390 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:128134390G>T uc003qbi.2 - 5 1715 c.1396C>A c.(1396-1398)CTT>ATT p.L466I THEMIS_uc010kfa.2_Missense_Mutation_p.L369I|THEMIS_uc011ebt.1_Missense_Mutation_p.L466I|THEMIS_uc010kfb.2_Missense_Mutation_p.L431I NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 466 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TCAATGGAAAGATCCCTGACA 0.468 NA 15 59 2.62699e-14 3.24094e-14 0.003163 1 0 OR2A4 79541 broad.mit.edu 37 6 132021854 132021854 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:132021854T>C uc011ecd.1 - 1 688 c.688A>G c.(688-690)AGG>GGG p.R230G ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron NM_030908 NP_112170 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) TGAACTTCCCTTGATTGGATC 0.488 NA 10 81 0 0 0.00245 0 0 SHPRH 257218 broad.mit.edu 37 6 146264414 146264414 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:146264414A>T uc003qlf.2 - 9 2502 c.2103T>A c.(2101-2103)TTT>TTA p.F701L SHPRH_uc003qld.2_Missense_Mutation_p.F701L|SHPRH_uc003qle.2_Missense_Mutation_p.F701L|SHPRH_uc003qlg.1_Missense_Mutation_p.F257L|SHPRH_uc003qlj.1_Missense_Mutation_p.F590L NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 701 PHD-type. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGGGGCAGTAAAAAGGCTTGA 0.453 NA 15 24 0 0 0.00245 0 0 SHPRH 257218 broad.mit.edu 37 6 146268732 146268732 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:146268732A>C uc003qlf.2 - 6 1508 c.1109T>G c.(1108-1110)ATT>AGT p.I370S SHPRH_uc003qld.2_Missense_Mutation_p.I370S|SHPRH_uc003qle.2_Missense_Mutation_p.I370S|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.I259S|SHPRH_uc003qlk.1_Missense_Mutation_p.I370S NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 370 Helicase ATP-binding; first part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ATCTGCTAAAATTCCACCAAG 0.423 NA 13 62 0 0 0.001368 0 0 SYNE1 23345 broad.mit.edu 37 6 152605206 152605206 + Silent SNP C C A rs149923357 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:152605206C>A uc010kiw.2 - 96 18716 c.18114G>T c.(18112-18114)GCG>GCT p.A6038A SYNE1_uc010kiv.2_Silent_p.A562A|SYNE1_uc003qos.3_Silent_p.A562A|SYNE1_uc003qot.3_Silent_p.A5967A|SYNE1_uc003qou.3_Silent_p.A6038A|SYNE1_uc010kiy.1_Silent_p.A217A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6038 Spectrin 20.|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) CCAGCTGCTCCGCAGGGTCGG 0.552 NA HNSCC(10;0.0054) 38 31 3.61848e-18 4.59848e-18 0.007835 1 0 FBXO5 26271 broad.mit.edu 37 6 153296193 153296193 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:153296193T>G uc003qpg.2 - 2 776 c.667A>C c.(667-669)ATT>CTT p.I223L FBXO5_uc003qph.2_Missense_Mutation_p.I177L NM_012177 NP_036309 Q9UKT4 FBX5_HUMAN F-box only protein 5 isoform a 223 Interaction with EVI5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) CTGGCTATAATTTCCTTCAGC 0.373 NSCLC(121;372 1757 17721 17977 29669) NA 30 37 0 0 0.009535 0 0 EZR 7430 broad.mit.edu 37 6 159188057 159188057 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:159188057A>T uc003qrt.3 - 13 1865 c.1650T>A c.(1648-1650)AAT>AAA p.N550K EZR_uc011efr.1_Missense_Mutation_p.N157K|EZR_uc011efs.1_Missense_Mutation_p.N518K|EZR_uc003qru.3_Missense_Mutation_p.N550K NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 550 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GGATGATGTCATTGTGGGTCC 0.562 NA 73 98 0 0 0.00361 0 0 C6orf118 168090 broad.mit.edu 37 6 165713854 165713854 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:165713854T>A uc003qum.3 - 3 911 c.875A>T c.(874-876)AAG>ATG p.K292M C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 292 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GTTTCTTACCTTAACTTTTTT 0.303 NA 10 87 0 0 0.010729 0 0 RBAK 57786 broad.mit.edu 37 7 5104216 5104216 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:5104216G>A uc010kss.1 + 6 1453 c.1129G>A c.(1129-1131)GAA>AAA p.E377K LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E377K NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 377 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TCCATGTAACGAATGTGGGAA 0.468 NA 24 127 0 0 0.003954 0 0 HDAC9 9734 broad.mit.edu 37 7 18767237 18767237 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:18767237C>G uc003suh.2 + 12 1798 c.1757C>G c.(1756-1758)TCT>TGT p.S586C HDAC9_uc003sue.2_Missense_Mutation_p.S586C|HDAC9_uc011jyd.1_Missense_Mutation_p.S586C|HDAC9_uc003sui.2_Missense_Mutation_p.S589C|HDAC9_uc003suj.2_Missense_Mutation_p.S545C|HDAC9_uc003sua.1_Missense_Mutation_p.S564C|HDAC9_uc010kue.1_Missense_Mutation_p.S241C NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 586 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CGTGCGCTCTCTGTGCGCCAA 0.542 NA 8 10 0 0 0.006214 0 0 HDAC9 9734 broad.mit.edu 37 7 18767262 18767262 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:18767262G>T uc003suh.2 + 12 1823 c.1782G>T c.(1780-1782)GCG>GCT p.A594A HDAC9_uc003sue.2_Silent_p.A594A|HDAC9_uc011jyd.1_Silent_p.A594A|HDAC9_uc003sui.2_Silent_p.A597A|HDAC9_uc003suj.2_Silent_p.A553A|HDAC9_uc003sua.1_Silent_p.A572A|HDAC9_uc010kue.1_Silent_p.A249A NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 594 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CGCTGGCTGCGGTTGGCATGG 0.567 NA 10 10 9.70103e-10 1.15278e-09 0.008291 1 0 HOXA5 3202 broad.mit.edu 37 7 27181551 27181551 + Missense_Mutation SNP A A G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:27181551A>G uc003syn.1 - 2 777 c.716T>C c.(715-717)ATT>ACT p.I239T NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 239 Homeobox. negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCAGATTTTAATTTGTCTCTC 0.498 Colon(119;75 2200 7557 42868) NA OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 94 0 0 0.00361 0 0 CCDC129 223075 broad.mit.edu 37 7 31683324 31683324 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:31683324C>T uc003tcj.1 + 11 3333 c.2340C>T c.(2338-2340)ACC>ACT p.T780T CCDC129_uc011kad.1_Silent_p.T790T|CCDC129_uc003tci.1_Silent_p.T631T|CCDC129_uc011kae.1_Silent_p.T806T|CCDC129_uc003tck.1_Silent_p.T688T NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 780 0 AGCCCCTCACCAAATCCGTCT 0.512 NA 25 71 0 0 0.00632 0 0 AMPH 273 broad.mit.edu 37 7 38433708 38433708 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:38433708C>A uc003tgu.2 - 18 1574 c.1505G>T c.(1504-1506)GGG>GTG p.G502V AMPH_uc003tgv.2_Missense_Mutation_p.G460V|AMPH_uc003tgt.2_Missense_Mutation_p.G387V|AMPH_uc003tgw.1_Missense_Mutation_p.G525V|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 502 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TACTCCTTCCCCGGCAGGGAC 0.582 NA 76 116 7.31121e-38 9.83788e-38 0.00361 1 0 GCK 2645 broad.mit.edu 37 7 44191930 44191930 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:44191930C>T uc003tkl.2 - 3 773 c.303G>A c.(301-303)GTG>GTA p.V101V GCK_uc003tkj.1_Silent_p.V100V|GCK_uc003tkk.1_Silent_p.V102V NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 101 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 GTTTGGTCTTCACGCTCCACT 0.622 NA 41 133 0 0 0.011902 0 0 ZNF713 349075 broad.mit.edu 37 7 56006821 56006821 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:56006821C>A uc003trc.1 + 4 453 c.415C>A c.(415-417)CAT>AAT p.H139N ZNF713_uc003tra.1_Missense_Mutation_p.H152N|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTTTGATTACCATCCAGAGTT 0.398 NA 18 27 1.33834e-09 1.58693e-09 0.007413 1 0 ZNF479 90827 broad.mit.edu 37 7 57188633 57188633 + Silent SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:57188633G>T uc010kzo.2 - 5 760 c.489C>A c.(487-489)GTC>GTA p.V163V NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CAAAGACTTTGACATATTTAT 0.308 NA 13 37 8.60227e-14 1.05652e-13 0.004007 1 0 HIP1 3092 broad.mit.edu 37 7 75174020 75174020 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:75174020G>C uc003uds.1 - 27 2780 c.2739C>G c.(2737-2739)AGC>AGG p.S913R HIP1_uc011kfz.1_Missense_Mutation_p.S739R NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 913 Important for actin binding (By similarity).|I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 GCTGGGCTGTGCTAGCAGCAA 0.473 NA T PDGFRB CMML 14 36 0 0 0.00245 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86522305 86522305 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:86522305C>T uc011kha.1 - 20 2982 c.2797G>A c.(2797-2799)GGT>AGT p.G933S KIAA1324L_uc003uif.1_Missense_Mutation_p.G693S|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G819S|KIAA1324L_uc003uie.2_Missense_Mutation_p.G766S NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 933 Helical; (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) GCTCCCACACCGGCTCCCACC 0.453 NA 42 63 0 0 0.006999 0 0 ADAM22 53616 broad.mit.edu 37 7 87746095 87746095 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:87746095A>C uc003ujn.2 + 7 652 c.573A>C c.(571-573)AGA>AGC p.R191S ADAM22_uc003uji.1_Missense_Mutation_p.R190S|ADAM22_uc003ujj.1_Missense_Mutation_p.R191S|ADAM22_uc003ujk.1_Missense_Mutation_p.R191S|ADAM22_uc003ujl.1_Missense_Mutation_p.R191S|ADAM22_uc003ujm.2_Missense_Mutation_p.R191S|ADAM22_uc003ujo.2_Missense_Mutation_p.R191S|ADAM22_uc003ujp.1_Missense_Mutation_p.R243S NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 191 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ACAAATCCAGACTGTTTGAAT 0.343 NA 5 19 0 0 0.001168 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764557 92764557 + Missense_Mutation SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:92764557T>C uc003umh.1 - 5 1944 c.728A>G c.(727-729)GAC>GGC p.D243G SAMD9L_uc003umj.1_Missense_Mutation_p.D243G|SAMD9L_uc003umi.1_Missense_Mutation_p.D243G|SAMD9L_uc010lfb.1_Missense_Mutation_p.D243G|SAMD9L_uc003umk.1_Missense_Mutation_p.D243G|SAMD9L_uc010lfc.1_Missense_Mutation_p.D243G|SAMD9L_uc010lfd.1_Missense_Mutation_p.D243G|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 243 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATGGGGTTTGTCCTTGACTCC 0.398 NA 31 47 0 0 0.009535 0 0 CCDC132 55610 broad.mit.edu 37 7 92923899 92923899 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:92923899G>T uc003umo.2 + 14 1246 c.1118G>T c.(1117-1119)CGT>CTT p.R373L CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R343L|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.R93L NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 373 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AATTTTGATCGTGGCTACATA 0.274 NA 16 74 8.34094e-07 9.42217e-07 0.008871 1 0 TSC22D4 81628 broad.mit.edu 37 7 100075071 100075071 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:100075071C>A uc003uva.2 - 2 1346 c.591G>T c.(589-591)GAG>GAT p.E197D TSC22D4_uc003uvb.2_5'UTR|TSC22D4_uc011kjv.1_5'UTR|TSC22D4_uc010lgx.2_Missense_Mutation_p.E197D|TSC22D4_uc003uvc.3_Missense_Mutation_p.E197D NM_030935 NP_112197 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 197 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGTCTCAGGCTCTGGGGGGC 0.706 NA 8 28 5.18039e-06 5.78056e-06 0.00308 1 0 ZAN 7455 broad.mit.edu 37 7 100346018 100346018 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:100346018G>A uc003uwj.2 + 11 1339 c.1174G>A c.(1174-1176)GGT>AGT p.G392S ZAN_uc003uwk.2_Missense_Mutation_p.G392S|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 392 MAM 3.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTCCGGGGATGGTGGACACTG 0.552 NA 7 29 0 0 0.00308 0 0 ASZ1 136991 broad.mit.edu 37 7 117021089 117021090 + Missense_Mutation DNP GG GG AT TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:117021089_117021090GG>AT uc003vjb.2 - 9 983_984 c.920_921CC>AT c.(919-921)ACC>AAT p.T307N ASZ1_uc011kno.1_Missense_Mutation_p.T307N|ASZ1_uc011knp.1_Missense_Mutation_p.T99N NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 307 SAM. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTTCCCTCATGGTCAAAAGATG 0.312 NA 17 88 0 0 0.004672 0 0 GCC1 79571 broad.mit.edu 37 7 127224822 127224822 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:127224822C>T uc003vma.2 - 1 833 c.415G>A c.(415-417)GGC>AGC p.G139S NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 139 Golgi membrane|plasma membrane protein binding ovary(2) 2 CTGCTAACGCCACTCTCGGAC 0.562 NA 15 87 0 0 0.00245 0 0 AKR1B1 231 broad.mit.edu 37 7 134143774 134143774 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:134143774G>C uc003vrp.1 - 1 115 c.41C>G c.(40-42)CCC>CGC p.P14R AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 14 NADP (Potential). C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) CCCCAGGATGGGCATCTTGGC 0.716 NA OREG0018334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 12 0 0 0.009096 0 0 OR6V1 346517 broad.mit.edu 37 7 142750304 142750304 + Silent SNP C C A rs4725609 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:142750304C>A uc011ksv.1 + 1 867 c.867C>A c.(865-867)ACC>ACA p.T289T NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, 289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.059) TTATCCTTACCTTCTGCAATC 0.527 NA 11 31 3.86212e-05 4.19862e-05 0.008291 1 0 TAS2R40 259286 broad.mit.edu 37 7 142919733 142919733 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:142919733G>C uc011ksx.1 + 1 562 c.562G>C c.(562-564)GAG>CAG p.E188Q NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 188 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) GTACTTCTCTGAGACCAATAT 0.463 NA 9 72 0 0 0.004482 0 0 CUL1 8454 broad.mit.edu 37 7 148427226 148427226 + Silent SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:148427226C>G uc010lpg.2 + 2 538 c.12C>G c.(10-12)ACC>ACG p.T4T CUL1_uc003wey.2_Silent_p.T4T|CUL1_uc003wez.2_5'UTR NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGTCGTCAACCCGGAGCCAGA 0.517 NA 12 58 0 0 0.010729 0 0 XRCC2 7516 broad.mit.edu 37 7 152346361 152346361 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:152346361G>A uc003wld.2 - 3 295 c.209C>T c.(208-210)TCA>TTA p.S70L NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 70 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCCACCTTCTGATTTGGGAAG 0.388 NA Homologous_recombination 8 38 0 0 0.006214 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37728853 37728853 + Missense_Mutation SNP G G A rs75558150 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:37728853G>A uc003xkm.1 - 4 3511 c.3467C>T c.(3466-3468)TCG>TTG p.S1156L RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.S485L|RAB11FIP1_uc003xko.1_Missense_Mutation_p.S485L|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1156 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ATGTGTCTCCGAGGGTGAGAC 0.532 NA OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 52 0 0 0.001368 0 0 ST18 9705 broad.mit.edu 37 8 53084928 53084928 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:53084928C>G uc003xqz.2 - 5 649 c.493G>C c.(493-495)GAC>CAC p.D165H ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D130H|ST18_uc011lds.1_Missense_Mutation_p.D70H|ST18_uc003xra.2_Missense_Mutation_p.D165H|ST18_uc003xrb.2_Missense_Mutation_p.D165H NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 165 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAGCACTCGTCTGCTTCATCG 0.398 NA 7 52 0 0 0.00308 0 0 TRPA1 8989 broad.mit.edu 37 8 72946612 72946612 + Silent SNP T T C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:72946612T>C uc003xza.2 - 22 2731 c.2556A>G c.(2554-2556)AGA>AGG p.R852R uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 852 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AATTTTCAAATCTAGAAAAGT 0.269 NA 5 16 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766341 77766341 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:77766341C>A uc003yav.2 + 10 7436 c.7049C>A c.(7048-7050)CCC>CAC p.P2350H ZFHX4_uc003yau.1_Missense_Mutation_p.P2395H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2350H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2350 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATTCCATCACCCAAACCAGAA 0.547 NA HNSCC(33;0.089) 29 53 5.61819e-17 7.07428e-17 0.005443 1 0 RUNX1T1 862 broad.mit.edu 37 8 93088214 93088214 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:93088214C>T uc003yfd.2 - 1 151 c.67G>A c.(67-69)GGG>AGG p.G23R RUNX1T1_uc003yfe.1_Intron|RUNX1T1_uc010mao.2_5'UTR|RUNX1T1_uc011lgi.1_Intron|RUNX1T1_uc003yfh.1_Intron NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 23 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCAAAGTTCCCTTTTTTCCGG 0.343 NA 35 31 0 0 0.003755 0 0 CSMD3 114788 broad.mit.edu 37 8 113304782 113304782 + Silent SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:113304782A>C uc003ynu.2 - 55 8931 c.8772T>G c.(8770-8772)CCT>CCG p.P2924P CSMD3_uc003yns.2_Silent_p.P2126P|CSMD3_uc003ynt.2_Silent_p.P2884P|CSMD3_uc011lhx.1_Silent_p.P2755P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2924 Extracellular (Potential).|Sushi 19. 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 ACATAGGTGGAGGATGGCTCC 0.408 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 63 43 0 0 0.00361 0 0 TRPS1 7227 broad.mit.edu 37 8 116632237 116632237 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:116632237C>A uc003ynz.2 - 2 508 c.49G>T c.(49-51)GAG>TAG p.E17* TRPS1_uc011lhy.1_Nonsense_Mutation_p.E21*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E30*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E17* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 17 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATCTGGCCCTCGCCTTCACTT 0.438 NA Langer-Giedion_syndrome 26 44 1.39806e-14 1.73258e-14 0.008361 1 0 COL14A1 7373 broad.mit.edu 37 8 121354682 121354682 + Nonsense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:121354682C>T uc003yox.2 + 44 5150 c.4885C>T c.(4885-4887)CAG>TAG p.Q1629* COL14A1_uc003yoz.2_Nonsense_Mutation_p.Q594* NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1629 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACAGCTCATCCAGAGTAAGTA 0.458 NA 7 47 0 0 0.001984 0 0 FAM135B 51059 broad.mit.edu 37 8 139164596 139164596 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:139164596G>C uc003yuy.2 - 13 2293 c.2122C>G c.(2122-2124)CCC>GCC p.P708A FAM135B_uc003yux.2_Missense_Mutation_p.P609A|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P270A|FAM135B_uc003yvb.2_Missense_Mutation_p.P270A NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 708 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CGATCACTGGGCAACTCCAGA 0.537 NA HNSCC(54;0.14) 23 12 0 0 0.002299 0 0 COL22A1 169044 broad.mit.edu 37 8 139774680 139774680 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:139774680C>T uc003yvd.2 - 17 2280 c.1833G>A c.(1831-1833)GGG>GGA p.G611G COL22A1_uc011ljo.1_5'Flank NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 611 Pro-rich.|Gly-rich.|Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCCAGGCTTCCCAGGGAATC 0.567 NA HNSCC(7;0.00092) 17 18 0 0 0.008871 0 0 ZNF707 286075 broad.mit.edu 37 8 144776287 144776287 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:144776287G>A uc003yze.3 + 7 1018 c.703G>A c.(703-705)GAG>AAG p.E235K ZNF707_uc010mfh.2_Missense_Mutation_p.E235K|ZNF707_uc010mfi.2_Missense_Mutation_p.E235K|ZNF707_uc003yzf.3_Missense_Mutation_p.E235K|ZNF707_uc003yzh.3_Missense_Mutation_p.E162K|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 235 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTTCTGCTGCGAGGCCTGCGG 0.662 NA 4 12 0 0 0.009096 0 0 SCRIB 23513 broad.mit.edu 37 8 144891822 144891822 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr8:144891822C>T uc003yzp.1 - 14 1604 c.1597G>A c.(1597-1599)GAG>AAG p.E533K SCRIB_uc003yzo.1_Missense_Mutation_p.E533K NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 533 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCTCAGCCTCAGAGACTGTG 0.667 Pancreas(51;966 1133 10533 14576 29674) NA 9 80 0 0 0.004482 0 0 GLDC 2731 broad.mit.edu 37 9 6602126 6602126 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:6602126T>A uc003zkc.2 - 8 1331 c.1138A>T c.(1138-1140)AAC>TAC p.N380Y NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 380 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GTACAGATGTTGCTGGTAGCC 0.408 NA 8 21 0 0 0.004482 0 0 MPDZ 8777 broad.mit.edu 37 9 13119517 13119517 + Missense_Mutation SNP A A C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:13119517A>C uc010mia.1 - 38 5420 c.5363T>G c.(5362-5364)GTT>GGT p.V1788G MPDZ_uc003zkx.3_Missense_Mutation_p.V53G|MPDZ_uc003zky.3_Missense_Mutation_p.V322G|MPDZ_uc010mib.2_Missense_Mutation_p.V493G|MPDZ_uc010mhx.2_Missense_Mutation_p.V610G|MPDZ_uc011lmm.1_Missense_Mutation_p.V647G|MPDZ_uc003zkz.3_Missense_Mutation_p.V481G|MPDZ_uc010mhy.2_Missense_Mutation_p.V1788G|MPDZ_uc010mhz.2_Missense_Mutation_p.V1755G|MPDZ_uc011lmn.1_Missense_Mutation_p.V1755G|MPDZ_uc003zlb.3_Missense_Mutation_p.V1788G NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1788 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CAAAGCGGCAACCGCTTCTTG 0.393 NA 11 34 0 0 0.008291 0 0 FAM154A 158297 broad.mit.edu 37 9 18928121 18928121 + Nonsense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:18928121G>A uc003zni.1 - 4 1632 c.1354C>T c.(1354-1356)CAG>TAG p.Q452* FAM154A_uc010mip.1_Nonsense_Mutation_p.Q260* NM_153707 NP_714918 Q8IYX7 F154A_HUMAN hypothetical protein LOC158297 452 pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.53e-16) CTGCTCTGCTGAGAGCCTGCC 0.453 NA 19 32 0 0 0.006122 0 0 TAF1L 138474 broad.mit.edu 37 9 32633792 32633792 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:32633792G>T uc003zrg.1 - 1 1876 c.1786C>A c.(1786-1788)CAA>AAA p.Q596K uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 596 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGACCCTGTTGCTTGGGGAAA 0.483 NA 66 692 3.30712e-30 4.38553e-30 0.00361 1 0 CHMP5 51510 broad.mit.edu 37 9 33266023 33266023 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:33266023G>C uc003zsl.3 + 3 440 c.85G>C c.(85-87)GAA>CAA p.E29Q SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'Flank|BAG1_uc003zsj.2_5'Flank|BAG1_uc003zsk.2_5'Flank|CHMP5_uc003zsm.3_Missense_Mutation_p.E29Q|CHMP5_uc011lnv.1_Missense_Mutation_p.E29Q NM_016410 NP_057494 Q9NZZ3 CHMP5_HUMAN chromatin modifying protein 5 29 Potential. cellular membrane organization|protein transport cytosol|endosome membrane protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) CAGTAGAGCAGAATCCATTGA 0.448 NA 16 26 0 0 0.00499 0 0 CA9 768 broad.mit.edu 37 9 35675908 35675908 + Missense_Mutation SNP T T G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:35675908T>G uc003zxo.3 + 3 626 c.584T>G c.(583-585)CTG>CGG p.L195R C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Missense_Mutation_p.L195R NM_001216 NP_001207 Q16790 CAH9_HUMAN carbonic anhydrase IX precursor 195 Extracellular.|Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding ovary(4)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GAACTGCGCCTGCGCAACAAT 0.731 NA 16 60 0 0 0.006122 0 0 FAM75A2 642265 broad.mit.edu 37 9 39888179 39888179 + Nonsense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:39888179C>A uc004abp.2 + 4 1195 c.1166C>A c.(1165-1167)TCG>TAG p.S389* NM_001040065 NP_001035154 Q5RGS2 F75A2_HUMAN hypothetical protein LOC642265 389 integral to membrane 0 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGAGAGAACTCGAAACAGCTG 0.483 NA 33 39 1.67305e-13 2.05023e-13 0.00623 1 0 RORB 6096 broad.mit.edu 37 9 77286800 77286800 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:77286800G>C uc004aji.2 + 9 1289 c.1240G>C c.(1240-1242)GAT>CAT p.D414H RORB_uc004ajh.2_Missense_Mutation_p.D403H NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 414 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TCACCTGGATGATGAGACCTT 0.428 NA 13 19 0 0 0.003163 0 0 OMD 4958 broad.mit.edu 37 9 95179237 95179237 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:95179237G>A uc004asd.3 - 2 973 c.604C>T c.(604-606)CTG>TTG p.L202L CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron NM_005014 NP_005005 Q99983 OMD_HUMAN osteomodulin precursor 202 LRR 5. cell adhesion proteinaceous extracellular matrix ovary(2) 2 TCTTTTAGCAGAGAATCATGA 0.378 NA T USP6 aneurysmal bone cysts 19 47 0 0 0.006122 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123169402 123169402 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:123169402G>A uc004bkf.2 - 32 5032 c.4851C>T c.(4849-4851)AGC>AGT p.S1617S CDK5RAP2_uc010mvi.2_Silent_p.S626S|CDK5RAP2_uc004bke.2_Silent_p.S902S|CDK5RAP2_uc004bkg.2_Intron|CDK5RAP2_uc011lxw.1_Silent_p.S882S|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Silent_p.S882S|CDK5RAP2_uc011lya.1_Silent_p.S882S|CDK5RAP2_uc004bkh.1_Silent_p.S1387S|CDK5RAP2_uc004bki.2_3'UTR NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1617 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CCTTGAGCCTGCTCTGCAGAG 0.602 NA 14 35 0 0 0.004007 0 0 STRBP 55342 broad.mit.edu 37 9 125895246 125895246 + Missense_Mutation SNP G G C TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:125895246G>C uc004bns.2 - 17 2205 c.1775C>G c.(1774-1776)GCA>GGA p.A592G STRBP_uc004bnt.2_Missense_Mutation_p.A410G|STRBP_uc004bnu.2_Missense_Mutation_p.A578G|STRBP_uc004bnv.2_Missense_Mutation_p.A592G|STRBP_uc004bnr.2_Missense_Mutation_p.A151G NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 592 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 AACGCCCTTTGCCTGTTAAAA 0.403 NA 21 17 0 0 0.012319 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134525549 134525549 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:134525549G>A uc004cbc.2 - 3 361 c.231C>T c.(229-231)ACC>ACT p.T77T RAPGEF1_uc004cbb.2_Silent_p.T95T|RAPGEF1_uc010mzn.2_Silent_p.T82T|RAPGEF1_uc004cbd.2_Silent_p.T82T NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 77 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CCACAGCACTGGTGGACATAA 0.502 NA 9 12 0 0 0.006214 0 0 VAV2 7410 broad.mit.edu 37 9 136642532 136642532 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:136642532C>A uc004ces.2 - 23 1990 c.1944G>T c.(1942-1944)AAG>AAT p.K648N VAV2_uc004cer.2_Missense_Mutation_p.K638N|VAV2_uc004cet.1_Missense_Mutation_p.K187N NM_001134398 NP_001127870 P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor isoform 648 SH3 1. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(3)|ovary(2)|lung(2)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) CAGGGCAGGGCTTCACAGATG 0.597 NA 41 60 1.61863e-15 2.02421e-15 0.00361 1 0 TRAF2 7186 broad.mit.edu 37 9 139794921 139794921 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:139794921C>T uc010nbu.2 + 5 488 c.315C>T c.(313-315)GCC>GCT p.A105A TRAF2_uc010nbv.1_Silent_p.A105A|TRAF2_uc004cjv.2_Silent_p.A105A|TRAF2_uc011mek.1_Silent_p.A94A|TRAF2_uc010nbw.2_Silent_p.A105A NM_021138 NP_066961 Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 105 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1)|skin(1) 4 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) GCCTGCCGGCCGTCTGTCCCA 0.597 NA 3 20 0 0 0.009096 0 0 TUBBP5 643224 broad.mit.edu 37 9 141071425 141071425 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:141071425C>T uc004com.2 + 4 1089 c.828C>T c.(826-828)AAC>AAT p.N276N TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 TCCCCGACAACGTAAAAACAG 0.502 NA 30 31 0 0 0.00874 0 0 OFD1 8481 broad.mit.edu 37 X 13778481 13778481 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:13778481G>T uc004cvp.3 + 16 2261 c.1902G>T c.(1900-1902)AGG>AGT p.R634S OFD1_uc004cvr.3_Missense_Mutation_p.R201S|OFD1_uc011mil.1_Missense_Mutation_p.R201S|OFD1_uc004cvq.3_Missense_Mutation_p.R494S|OFD1_uc010nen.2_Missense_Mutation_p.R633S|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.R593S|OFD1_uc004cvv.3_Missense_Mutation_p.R593S NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 634 Potential.|Mediates the interaction with SDCCAG8.|Mediates homooligomerization. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 CTAAGGCAAGGGTCAAAGAGC 0.468 NA 25 23 1.85244e-09 2.19179e-09 0.00333 1 0 XK 7504 broad.mit.edu 37 X 37587654 37587654 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:37587654G>T uc004ddq.2 + 3 1356 c.1274G>T c.(1273-1275)AGC>ATC p.S425I NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 425 Cytoplasmic (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) ACACCTTCTAGCAGTAAAACA 0.473 NA 41 30 1.63429e-32 2.18303e-32 0.00361 1 0 USP11 8237 broad.mit.edu 37 X 47104483 47104483 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:47104483G>A uc004dhp.2 + 16 2284 c.2284G>A c.(2284-2286)GAG>AAG p.E762K USP11_uc004dhq.2_Missense_Mutation_p.E488K NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 762 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 GGTAGAGGCTGAGGTAAATGA 0.557 NA 3 6 0 0 0.004672 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350668 50350668 + Missense_Mutation SNP C C A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:50350668C>A uc004dpe.2 - 6 3500 c.3474G>T c.(3472-3474)GAG>GAT p.E1158D SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1158 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GGGGTGGCAGctcctcttcct 0.279 NA 9 6 0.000442599 0.000470905 0.006214 1 0 MSN 4478 broad.mit.edu 37 X 64955189 64955189 + Missense_Mutation SNP G G T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:64955189G>T uc004dwf.2 + 8 1054 c.856G>T c.(856-858)GGG>TGG p.G286W NM_002444 NP_002435 P26038 MOES_HUMAN moesin 286 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1) 10 CTTGTGCATGGGGAACCATGA 0.537 NA T ALK ALCL 12 4 2.61681e-11 3.15051e-11 0.00245 1 0 ITGB1BP2 26548 broad.mit.edu 37 X 70524989 70524989 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:70524989G>A uc004dzr.1 + 11 1020 c.991G>A c.(991-993)GAT>AAT p.D331N BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.D313N NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 331 Asp/Glu-rich (acidic). muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) CGATTCAGATGATGATCTGAG 0.507 NA 3 7 0 0 0.009096 0 0 ABCB7 22 broad.mit.edu 37 X 74280087 74280087 + Missense_Mutation SNP C C G TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:74280087C>G uc004eca.2 - 15 2039 c.2014G>C c.(2014-2016)GAT>CAT p.D672H ABCB7_uc004ebz.2_Missense_Mutation_p.D673H|ABCB7_uc011mqn.1_Missense_Mutation_p.D646H|ABCB7_uc010nls.2_Missense_Mutation_p.D633H|ABCB7_uc010nlt.2_Missense_Mutation_p.D632H NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 672 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 TCATCTGCATCAACCACTGTT 0.348 NA 5 14 0 0 0.001168 0 0 BRWD3 254065 broad.mit.edu 37 X 79932289 79932289 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:79932289C>T uc004edt.2 - 41 5491 c.5228G>A c.(5227-5229)AGA>AAA p.R1743K BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.R1339K|BRWD3_uc004edp.2_Missense_Mutation_p.R1572K|BRWD3_uc004edq.2_Missense_Mutation_p.R1339K|BRWD3_uc010nmj.1_Missense_Mutation_p.R1339K|BRWD3_uc004edr.2_Missense_Mutation_p.R1413K|BRWD3_uc004eds.2_Missense_Mutation_p.R1339K|BRWD3_uc004edu.2_Missense_Mutation_p.R1413K|BRWD3_uc004edv.2_Missense_Mutation_p.R1339K|BRWD3_uc004edw.2_Missense_Mutation_p.R1339K|BRWD3_uc004edx.2_Missense_Mutation_p.R1339K|BRWD3_uc004edy.2_Missense_Mutation_p.R1339K|BRWD3_uc004edz.2_Missense_Mutation_p.R1413K|BRWD3_uc004eea.2_Missense_Mutation_p.R1413K|BRWD3_uc004eeb.2_Missense_Mutation_p.R1339K|uc004edn.1_5'Flank NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1743 ovary(4) 4 TCGAGGCAGTCTACTGAAACG 0.368 NA 8 17 0 0 0.006214 0 0 RAB40AL 282808 broad.mit.edu 37 X 102192642 102192642 + Silent SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:102192642C>T uc004ejs.2 + 1 443 c.396C>T c.(394-396)TTC>TTT p.F132F NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 132 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 ATCTGGCATTCAAGAGGCAGG 0.552 NA 15 22 0 0 0.010504 0 0 CHRDL1 91851 broad.mit.edu 37 X 109964630 109964630 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:109964630T>A uc004eou.3 - 5 779 c.430A>T c.(430-432)ACC>TCC p.T144S CHRDL1_uc004eov.2_Missense_Mutation_p.T138S|CHRDL1_uc004eow.2_Missense_Mutation_p.T143S|CHRDL1_uc010nps.2_Missense_Mutation_p.T143S|CHRDL1_uc004eot.2_Intron|CHRDL1_uc011mss.1_Intron|CHRDL1_uc004eox.3_Missense_Mutation_p.T137S NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 137 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 CTGCACTGGGTGCATTGATTG 0.478 NA 112 69 0 0 0.00361 0 0 CAPN6 827 broad.mit.edu 37 X 110497506 110497507 + Missense_Mutation DNP CC CC AA TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:110497506_110497507CC>AA uc004epc.1 - 3 458_459 c.290_291GG>TT c.(289-291)TGG>TTT p.W97F CAPN6_uc011msu.1_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 97 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 ATACCTTTGTCCAATGAGACTC 0.436 NA 33 17 0 0 0.004672 0 0 CT47B1 643311 broad.mit.edu 37 X 120009314 120009314 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:120009314C>T uc011muc.1 - 1 466 c.211G>A c.(211-213)GGC>AGC p.G71S NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 71 0 GCGGCCAGGCCTGCCGCCTGC 0.622 NA 25 15 0 0 0.004656 0 0 ODZ1 10178 broad.mit.edu 37 X 123517897 123517897 + Missense_Mutation SNP C C T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:123517897C>T uc004euj.2 - 29 6927 c.6863G>A c.(6862-6864)AGC>AAC p.S2288N ODZ1_uc011muj.1_Missense_Mutation_p.S2294N|ODZ1_uc010nqy.2_Missense_Mutation_p.S2295N NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2288 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AATCTCCGAGCTTGTGTGGTT 0.443 NA 49 32 0 0 0.00361 0 0 USP26 83844 broad.mit.edu 37 X 132160639 132160639 + Missense_Mutation SNP T T A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:132160639T>A uc010nrm.1 - 6 2080 c.1610A>T c.(1609-1611)CAG>CTG p.Q537L USP26_uc011mvf.1_Missense_Mutation_p.Q537L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 537 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GATGACTTCCTGGTCATTCTT 0.408 NSCLC(104;342 1621 36940 47097 52632) NA 51 32 0 0 0.00361 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995288 140995288 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:140995288G>A uc004fbt.2 + 4 2384 c.2098G>A c.(2098-2100)GAG>AAG p.E700K MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 700 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAGTCCTCTTGAGGGAGAGGA 0.562 NA HNSCC(15;0.026) 27 66 0 0 0.004656 0 0 PASD1 139135 broad.mit.edu 37 X 150773189 150773189 + Missense_Mutation SNP A A T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:150773189A>T uc004fev.3 + 3 432 c.100A>T c.(100-102)AAC>TAC p.N34Y NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 34 PAS. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGATTACTTCAACCAAGTGAC 0.313 NA 6 5 0 0 0.001984 0 0 L1CAM 3897 broad.mit.edu 37 X 153130418 153130418 + Silent SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:153130418G>A uc004fjb.2 - 22 3012 c.2904C>T c.(2902-2904)TTC>TTT p.F968F L1CAM_uc004fjc.2_Silent_p.F968F|L1CAM_uc010nuo.2_Silent_p.F963F NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 968 Extracellular (Potential).|Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGAAGGTTGAAGGACAGTT 0.657 NA 36 73 0 0 0.004289 0 0 DDR2 4921 broad.mit.edu 37 1 162731110 162731110 + Frame_Shift_Del DEL T T - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr1:162731110delT uc001gcf.2 + 10 1430 c.965delT c.(964-966)CTTfs p.L322fs DDR2_uc001gcg.2_Frame_Shift_Del_p.L322fs NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 322 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCCTTCCCCCTTGTCCTGGAT 0.502 NSCLC(161;314 2006 8283 19651 23192) NA 19 41 --- --- --- --- NA NA NA NA NA MMRN2 79812 broad.mit.edu 37 10 88703746 88703746 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr10:88703746delG uc001kea.2 - 6 922 c.795delC c.(793-795)GACfs p.D265fs MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Frame_Shift_Del_p.D222fs NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 265 extracellular space large_intestine(1) 1 TGGCCTCCACGTCAAGAGACA 0.572 NA 29 36 --- --- --- --- NA NA NA NA NA PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 CAT CAT - - CAT CAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:77069990_77069992delCAT uc001oyh.3 - 6 1081_1083 c.548_550delATG c.(547-552)GATGCT>GCT p.D183del PAK1_uc010rso.1_In_Frame_Del_p.D85del|PAK1_uc001oyg.3_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.1_5'UTR NM_002576 NP_002567 Q13153 PAK1_HUMAN p21-activated kinase 1 isoform 2 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity skin(2)|stomach(1)|lung(1) 4 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.429 NA 11 288 --- --- --- --- NA NA NA NA NA PGR 5241 broad.mit.edu 37 11 100909932 100909932 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:100909932delG uc001pgh.2 - 8 3460 c.2717delC c.(2716-2718)CCAfs p.P906fs PGR_uc001pgg.2_Frame_Shift_Del_p.P287fs|PGR_uc001pgi.2_Frame_Shift_Del_p.P804fs|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 906 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CATCATTTCTGGAAATTCAAC 0.378 Pancreas(124;2271 2354 21954 22882) NA 9 42 --- --- --- --- NA NA NA NA NA OR10G4 390264 broad.mit.edu 37 11 123886543 123886543 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr11:123886543delG uc010sac.1 + 1 262 c.262delG c.(262-264)GGCfs p.G88fs NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTCCCCAAGCGGCAGGGCTAT 0.532 NA 10 57 --- --- --- --- NA NA NA NA NA FRG1B 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:29628226delG uc010ztl.1 + 3 171 c.139_splice c.e3-1 p.G47_splice FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GTTTCACTTAGGGGAAAATGG 0.318 NA 10 100 --- --- --- --- NA NA NA NA NA TOX2 84969 broad.mit.edu 37 20 42635313 42635313 + Frame_Shift_Del DEL G G - rs139380167 byFrequency TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:42635313delG uc002xlf.3 + 3 336 c.319delG c.(319-321)GGCfs p.G107fs TOX2_uc010ggo.2_Frame_Shift_Del_p.G98fs|TOX2_uc002xle.3_Frame_Shift_Del_p.G56fs|TOX2_uc010ggp.2_Frame_Shift_Del_p.G56fs|TOX2_uc002xlg.2_Frame_Shift_Del_p.G56fs NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 107 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCTGTGCCACGGCCTCACCCC 0.622 NA 27 64 --- --- --- --- NA NA NA NA NA CABLES2 81928 broad.mit.edu 37 20 60966081 60966081 + Frame_Shift_Del DEL A A - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr20:60966081delA uc002ycv.2 - 10 1390 c.1383delT c.(1381-1383)TATfs p.Y461fs NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 461 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) TCTCGGGAAGATACAGGGCCA 0.567 NA 32 47 --- --- --- --- NA NA NA NA NA RPL3 6122 broad.mit.edu 37 22 39714471 39714472 + Frame_Shift_Ins INS - - G rs141020322 TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr22:39714471_39714472insG uc003axi.2 - 2 197_198 c.129_130insC c.(127-132)CTCACAfs p.L43fs RPL3_uc003axh.2_Frame_Shift_Ins_p.L43fs|RPL3_uc003axj.2_5'UTR|RPL3_uc011aoj.1_Frame_Shift_Ins_p.L43fs|RPL3_uc010gxx.2_5'UTR|RPL3_uc003axg.2_5'UTR|RPL3_uc003axk.1_5'UTR NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 43_44 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) AGGAAGGCTGTGAGGTGGACCG 0.584 NA 32 64 --- --- --- --- NA NA NA NA NA HCLS1 3059 broad.mit.edu 37 3 121351394 121351394 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:121351394delG uc003eeh.3 - 12 1150 c.1025delC c.(1024-1026)CCAfs p.P342fs HCLS1_uc011bjj.1_Frame_Shift_Del_p.P305fs|HCLS1_uc011bjk.1_RNA NM_005335 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 342 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(114;0.0912) GGGCAGAGCTGGGGGCTCCTC 0.458 NA 12 85 --- --- --- --- NA NA NA NA NA SLC9A9 285195 broad.mit.edu 37 3 143082332 143082336 + Frame_Shift_Del DEL TCAAA TCAAA - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 TCAAA TCAAA - - TCAAA TCAAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr3:143082332_143082336delTCAAA uc003evn.2 - 14 1776_1780 c.1594_1598delTTTGA c.(1594-1599)TTTGACfs p.F532fs NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 532_533 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 ATACTTGTGGTCAAAGCTATACCAC 0.415 NA 7 84 --- --- --- --- NA NA NA NA NA LIAS 11019 broad.mit.edu 37 4 39460773 39460773 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr4:39460773delG uc003guf.2 + 1 109 c.36delG c.(34-36)CTGfs p.L12fs RPL9_uc003gub.2_5'Flank|RPL9_uc003guc.2_5'Flank|RPL9_uc011byk.1_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.3_Frame_Shift_Del_p.L12fs|LIAS_uc011bym.1_Frame_Shift_Del_p.L12fs|LIAS_uc003gug.2_Frame_Shift_Del_p.L12fs|LIAS_uc003guh.2_Frame_Shift_Del_p.L12fs NM_006859 NP_006850 O43766 LIAS_HUMAN lipoic acid synthetase isoform 1 precursor 12 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding 0 Lipoic Acid(DB00166) CCCGCACCCTGGGGCCCCGGG 0.592 NA 25 69 --- --- --- --- NA NA NA NA NA CDHR2 54825 broad.mit.edu 37 5 176011962 176011962 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr5:176011962delG uc003mem.1 + 19 2746 c.2680delG c.(2680-2682)GTGfs p.V894fs CDHR2_uc003men.1_Frame_Shift_Del_p.V894fs NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 894 Extracellular (Potential).|Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CACGCTGGTTGTGCGGGCCTG 0.612 NA 5 3 --- --- --- --- NA NA NA NA NA ZFP57 346171 broad.mit.edu 37 6 29640858 29640858 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:29640858delG uc011dlw.1 - 4 1181 c.1030delC c.(1030-1032)CAGfs p.Q344fs ZFP57_uc003nnl.3_Frame_Shift_Del_p.Q324fs NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 260 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 ACAGATGCCTGGTTCTGGGCC 0.542 NA 27 159 --- --- --- --- NA NA NA NA NA ROS1 6098 broad.mit.edu 37 6 117677871 117677871 + Frame_Shift_Del DEL A A - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr6:117677871delA uc003pxp.1 - 25 4261 c.4062delT c.(4060-4062)TTTfs p.F1354fs ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1354 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGCTTTGGCAAAGTATATCA 0.408 NA T GOPC|ROS1 glioblastoma|NSCLC 20 47 --- --- --- --- NA NA NA NA NA VWC2 375567 broad.mit.edu 37 7 49842437 49842440 + Splice_Site DEL GTAT GTAT - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 GTAT GTAT - - GTAT GTAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr7:49842437_49842440delGTAT uc003tot.1 + 3 1382 c.826_splice c.e3+1 p.G276_splice NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 TGCAAAAATGGTATGTGAGATCCC 0.559 NA 9 55 --- --- --- --- NA NA NA NA NA TAF1L 138474 broad.mit.edu 37 9 32633583 32633584 + Frame_Shift_Ins INS - - T TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chr9:32633583_32633584insT uc003zrg.1 - 1 2084_2085 c.1994_1995insA c.(1993-1995)AAGfs p.K665fs uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCATCTTGGCCTTTTTTTTGAT 0.48 NA 11 454 --- --- --- --- NA NA NA NA NA ENOX2 10495 broad.mit.edu 37 X 129771355 129771355 + Frame_Shift_Del DEL C C - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b68a9ab8-5042-437c-be61-a1cf0f9f9210 67131ca6-922d-4103-b302-ce1f13df83fa g.chrX:129771355delC uc004evw.2 - 12 1664 c.1246delG c.(1246-1248)GAAfs p.E416fs ENOX2_uc004evx.2_Frame_Shift_Del_p.E387fs|ENOX2_uc004evy.2_Frame_Shift_Del_p.E387fs|ENOX2_uc004evv.2_Frame_Shift_Del_p.E241fs NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 416 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 TCATTTTCTTCCTTCAGAGCT 0.408 Ovarian(101;828 1506 2951 9500 35258) NA 39 31 --- --- --- --- NA NA NA NA NA