Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut AADACL4 343066 broad.mit.edu 37 1 12726525 12726525 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:12726525C>G uc001auf.2 + 4 1003 c.1003C>G c.(1003-1005)CAG>GAG p.Q335E NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 335 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GGTCATCGCTCAGCTTCCTGA 0.517 NA 10 106 0 0 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837210 12837210 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:12837210C>G uc001aui.2 + 3 947 c.920C>G c.(919-921)TCG>TGG p.S307W NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 307 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCAGAGTCGGACCTGAAG 0.557 NA 45 127 0 0 0 0 PDPN 10630 broad.mit.edu 37 1 13936917 13936917 + Silent SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:13936917C>A uc001avd.2 + 3 514 c.465C>A c.(463-465)CGC>CGA p.R155R PDPN_uc001avc.2_Silent_p.R155R|PDPN_uc009vob.2_Silent_p.R37R|PDPN_uc009voc.2_Silent_p.R37R|PDPN_uc001ave.2_Silent_p.R37R|PDPN_uc001avf.2_Silent_p.R37R NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 79 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CAGGCATTCGCATCGAGGATC 0.473 NA 4 66 0.00909568 0.0097977 1 0 PEF1 553115 broad.mit.edu 37 1 32098207 32098207 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:32098207C>T uc001bth.1 - 4 526 c.514G>A c.(514-516)GAT>AAT p.D172N PEF1_uc001bte.1_Missense_Mutation_p.D11N|PEF1_uc001btf.1_Missense_Mutation_p.D11N|PEF1_uc001btg.1_Missense_Mutation_p.D102N NM_012392 NP_036524 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 172 EF-hand 2. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity 0 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) CCGTAGACATCGATGCGGCCT 0.557 NA 14 32 0 0 0 0 SYDE2 84144 broad.mit.edu 37 1 85666170 85666170 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:85666170G>A uc009wcm.2 - 1 559 c.510C>T c.(508-510)GGC>GGT p.G170G SYDE2_uc001dku.3_Silent_p.G170G NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 170 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) GGTCTCCTTTGCCACTGCGTA 0.642 NA 31 51 0 0 0 0 DENND2D 79961 broad.mit.edu 37 1 111730992 111730992 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:111730992G>C uc001eak.1 - 11 1300 c.1100C>G c.(1099-1101)ACT>AGT p.T367S DENND2D_uc001eal.1_Missense_Mutation_p.T364S NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 367 ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) TTGTTCTGCAGCTGCAGGAGA 0.483 NA 20 44 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:145367767G>A uc001end.3 + 85 10623 c.10588G>A c.(10588-10590)GAA>AAA p.E3530K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3455 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.254 NA 5 77 0 0 0 0 LINGO4 339398 broad.mit.edu 37 1 151774300 151774300 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:151774300C>T uc001ezf.1 - 2 1071 c.881G>A c.(880-882)CGA>CAA p.R294Q NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 294 Extracellular (Potential).|LRR 9. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCTGAGCCTTCGGGCTGGGAT 0.622 NA 22 56 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152285104 152285104 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:152285104T>A uc001ezu.1 - 3 2294 c.2258A>T c.(2257-2259)CAT>CTT p.H753L uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 753 Filaggrin 4.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTTCTGAATGTCCCTCACT 0.582 NA Ichthyosis 15 785 0 0 0 0 IQGAP3 128239 broad.mit.edu 37 1 156532415 156532415 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:156532415G>C uc001fpf.2 - 9 916 c.841C>G c.(841-843)CAG>GAG p.Q281E IQGAP3_uc009wsb.1_Missense_Mutation_p.Q238E NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 281 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTTCAGCCTGAGTTAGGTAG 0.507 NA 49 135 0 0 0 0 ATP2B4 493 broad.mit.edu 37 1 203678644 203678644 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:203678644G>C uc001gzw.2 + 11 2657 c.1773G>C c.(1771-1773)AAG>AAC p.K591N ATP2B4_uc001gzv.2_Missense_Mutation_p.K591N|ATP2B4_uc009xaq.2_Missense_Mutation_p.K591N NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 591 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTACAGCAAGGGCGCCTCTG 0.557 NA 7 74 0 0 0 0 OR2L2 26246 broad.mit.edu 37 1 248201955 248201955 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:248201955T>C uc001idw.2 + 1 482 c.386T>C c.(385-387)CTC>CCC p.L129P OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 129 Cytoplasmic (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) TGCTTTCCTCTCCACTATCCC 0.408 NA 6 179 0 0 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687181 68687181 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:68687181G>A uc001jmz.1 + 2 1057 c.507G>A c.(505-507)CTG>CTA p.L169L CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.L169L NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 169 Extracellular (Potential).|LRR 5. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CTAACTCCCTGAGAACCATCC 0.488 NA 27 90 0 0 0 0 PSAP 5660 broad.mit.edu 37 10 73590951 73590951 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:73590951A>C uc001jsm.2 - 4 411 c.307T>G c.(307-309)TCT>GCT p.S103A NM_002778 NP_002769 P07602 SAP_HUMAN prosaposin isoform a preproprotein 103 Saposin B-type 1. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding ovary(1) 1 CATGAAGCAGACATGTTCGGT 0.483 NA 30 62 0 0 0 0 COMTD1 118881 broad.mit.edu 37 10 76993922 76993922 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:76993922C>T uc001jxb.2 - 7 782 c.698G>A c.(697-699)CGA>CAA p.R233Q COMTD1_uc001jxc.1_Silent_p.A324A NM_144589 NP_653190 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 233 integral to membrane O-methyltransferase activity 0 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) GTTTAGGTTTCGCACACACTC 0.682 NA 23 58 0 0 0 0 LDB3 11155 broad.mit.edu 37 10 88451696 88451696 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr10:88451696G>A uc001kdv.2 + 5 756 c.733G>A c.(733-735)GTC>ATC p.V245I LDB3_uc010qml.1_Missense_Mutation_p.V245I|LDB3_uc010qmm.1_Missense_Mutation_p.V313I|LDB3_uc001kdu.2_Missense_Mutation_p.V198I|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Missense_Mutation_p.V198I|LDB3_uc009xsy.2_Missense_Mutation_p.V313I|LDB3_uc001kds.2_Missense_Mutation_p.V245I|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 245 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 CGCCTCTCCCGTCTACCAGGC 0.602 NA 6 107 0 0 0 0 MUC6 4588 broad.mit.edu 37 11 1026050 1026050 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:1026050C>G uc001lsw.2 - 21 2689 c.2638G>C c.(2638-2640)GAC>CAC p.D880H NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 880 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGCTGGCCGTCGAAGGTGATG 0.677 NA 3 7 0 0 0 0 INSC 387755 broad.mit.edu 37 11 15222416 15222416 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:15222416T>G uc001mly.2 + 7 927 c.881T>G c.(880-882)TTC>TGC p.F294C INSC_uc001mlz.2_Missense_Mutation_p.F247C|INSC_uc001mma.2_Missense_Mutation_p.F247C|INSC_uc010rcs.1_Missense_Mutation_p.F282C|INSC_uc001mmb.2_Missense_Mutation_p.F247C|INSC_uc001mmc.2_Intron NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 294 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CAGGACAGTTTCCGGTGCTTG 0.587 NA 3 45 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30033979 30033979 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:30033979G>C uc001msk.2 - 2 1399 c.247C>G c.(247-249)CGG>GGG p.R83G NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 83 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTCCTCCTCCGACTACCCCGG 0.632 NA 4 81 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137416 40137416 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:40137416C>T uc001mxa.1 - 2 2391 c.427G>A c.(427-429)GCT>ACT p.A143T LRRC4C_uc001mxc.1_Missense_Mutation_p.A139T|LRRC4C_uc001mxd.1_Missense_Mutation_p.A139T|LRRC4C_uc001mxb.1_Missense_Mutation_p.A139T NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 143 LRR 3. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TATACAAAAGCTCCATTCGGG 0.438 NA 23 53 0 0 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359366 64359366 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:64359366C>T uc001oam.1 + 1 1085 c.338C>T c.(337-339)ACG>ATG p.T113M SLC22A12_uc009ypr.1_Missense_Mutation_p.T113M|SLC22A12_uc001oal.1_Translation_Start_Site|SLC22A12_uc009yps.1_Missense_Mutation_p.T113M|SLC22A12_uc001oan.1_Missense_Mutation_p.T113M|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 113 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 GAGGCCGACACGGAGCCGTGT 0.672 NA 18 27 0 0 0 0 ZNF202 7753 broad.mit.edu 37 11 123597653 123597653 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:123597653C>G uc001pzd.1 - 9 1399 c.999G>C c.(997-999)CTG>CTC p.L333L ZNF202_uc001pzc.1_Silent_p.L109L|ZNF202_uc001pze.1_Silent_p.L333L|ZNF202_uc001pzf.1_Silent_p.L333L NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 333 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CCTCCAAACTCAGATCTTCCT 0.463 NA 9 226 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885884 20885884 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:20885884G>T uc001rej.3 + 11 1583 c.1228G>T c.(1228-1230)GGG>TGG p.G410W SLCO1C1_uc010sii.1_Missense_Mutation_p.G410W|SLCO1C1_uc010sij.1_Missense_Mutation_p.G361W|SLCO1C1_uc009zip.2_Missense_Mutation_p.G244W|SLCO1C1_uc001rei.2_Missense_Mutation_p.G410W|SLCO1C1_uc010sik.1_Missense_Mutation_p.G292W NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 410 Helical; Name=8; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AATATTCTCTGGGGGGATAGT 0.383 NA 16 74 3.53e-06 4.13e-06 1 0 PPFIBP1 8496 broad.mit.edu 37 12 27824450 27824450 + Silent SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:27824450T>G uc001ric.1 + 14 1661 c.1284T>G c.(1282-1284)ACT>ACG p.T428T PPFIBP1_uc010sjr.1_Silent_p.T259T|PPFIBP1_uc001rib.1_Silent_p.T411T|PPFIBP1_uc001ria.2_Silent_p.T397T|PPFIBP1_uc001rid.1_Silent_p.T275T NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 428 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CAAAGTTGACTCCTAAGCCAG 0.343 NA 7 71 0 0 0 0 KIF5A 3798 broad.mit.edu 37 12 57975223 57975223 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:57975223C>T uc001sor.1 + 25 2989 c.2781C>T c.(2779-2781)TAC>TAT p.Y927Y KIF5A_uc010srr.1_Silent_p.Y838Y NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 927 Globular. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CTGGCCACTACCCAGCATCCT 0.547 NA 9 72 0 0 0 0 BEST3 144453 broad.mit.edu 37 12 70048856 70048856 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:70048856G>C uc001svg.2 - 10 2065 c.1838C>G c.(1837-1839)TCT>TGT p.S613C BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S400C|BEST3_uc010stm.1_Missense_Mutation_p.S507C NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 613 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGCTGGCTGAGAGCTCATGGG 0.488 NA 18 32 0 0 0 0 BTBD11 121551 broad.mit.edu 37 12 108006645 108006645 + Missense_Mutation SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:108006645A>G uc001tmk.1 + 6 2419 c.1898A>G c.(1897-1899)GAG>GGG p.E633G BTBD11_uc009zut.1_Missense_Mutation_p.E633G|BTBD11_uc001tmj.2_Missense_Mutation_p.E633G|BTBD11_uc001tml.1_Missense_Mutation_p.E170G NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 633 integral to membrane DNA binding skin(2)|ovary(1) 3 CTGAATGTGGAGGTGAGGGTG 0.632 NA 6 5 0 0 0 0 JPH4 84502 broad.mit.edu 37 14 24040391 24040391 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:24040391C>G uc001wkq.2 - 6 2467 c.1549G>C c.(1549-1551)GAG>CAG p.E517Q JPH4_uc010tnr.1_Missense_Mutation_p.E182Q|JPH4_uc001wkr.2_Missense_Mutation_p.E517Q NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 517 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) ATCCCAGCCTCATCCTCAGCC 0.647 NA 18 164 0 0 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931144 94931144 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:94931144T>C uc001ydf.2 - 4 1165 c.1004A>G c.(1003-1005)AAT>AGT p.N335S SERPINA9_uc001yde.2_Missense_Mutation_p.N235S|SERPINA9_uc010avc.2_Missense_Mutation_p.N186S|SERPINA9_uc001ydg.2_Missense_Mutation_p.N299S|SERPINA9_uc001ydh.1_Missense_Mutation_p.N335S|SERPINA9_uc001ydi.1_Missense_Mutation_p.N299S NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 317 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGTTTCCAGATTGTAGGAGGC 0.448 NA 24 45 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408273 105408273 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:105408273G>T uc010axc.1 - 7 13635 c.13515C>A c.(13513-13515)GAC>GAA p.D4505E AHNAK2_uc001ypx.2_Missense_Mutation_p.D4405E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4505 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) TGGTCTTGAGGTCCCCCTGCA 0.612 NA 7 264 8.13e-05 9.12e-05 1 0 JAG2 3714 broad.mit.edu 37 14 105609208 105609208 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:105609208C>T uc001yqg.2 - 26 3945 c.3541G>A c.(3541-3543)GAG>AAG p.E1181K JAG2_uc010axf.2_Silent_p.T4T|JAG2_uc001yqf.2_Missense_Mutation_p.E585K|JAG2_uc001yqh.2_Missense_Mutation_p.E1143K NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 1181 Cytoplasmic (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCAGATCCTCGTCCTCCTCA 0.443 NA 19 13 0 0 0 0 TJP1 7082 broad.mit.edu 37 15 30011211 30011211 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:30011211G>A uc001zcr.2 - 21 3610 c.3135C>T c.(3133-3135)TAC>TAT p.Y1045Y TJP1_uc010azl.2_Silent_p.Y1033Y|TJP1_uc001zcq.2_Silent_p.Y969Y|TJP1_uc001zcs.2_Silent_p.Y965Y NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1045 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GTTTCTCTACGTATGGGAGTT 0.502 NA 73 172 0 0 0 0 TRPM1 4308 broad.mit.edu 37 15 31294599 31294599 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:31294599T>C uc001zfm.2 - 27 4366 c.4238A>G c.(4237-4239)TAT>TGT p.Y1413C TRPM1_uc010azy.2_Missense_Mutation_p.Y1320C|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1413 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TTCCAGGGGATAGGAAATAGT 0.393 NA 37 74 0 0 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85164140 85164140 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:85164140C>T uc002bkr.2 + 3 940 c.714C>T c.(712-714)ATC>ATT p.I238I ZSCAN2_uc010bmz.1_Silent_p.I236I|ZSCAN2_uc010bna.2_Silent_p.I88I|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 238 C2H2-type 1. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCCACCTCATCACACACGAGA 0.493 NA 10 74 0 0 0 0 VPS33B 26276 broad.mit.edu 37 15 91544674 91544674 + Missense_Mutation SNP A A C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr15:91544674A>C uc002bqp.1 - 19 1778 c.1424T>G c.(1423-1425)TTC>TGC p.F475C VPS33B_uc002bqq.1_Missense_Mutation_p.F384C|VPS33B_uc010uqu.1_Missense_Mutation_p.F448C NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 475 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) CAGAGAACTGAAGGCATCAGT 0.463 NA 7 65 0 0 0 0 NSMCE1 197370 broad.mit.edu 37 16 27237111 27237111 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:27237111G>A uc002doi.1 - 7 755 c.657C>T c.(655-657)TAC>TAT p.Y219Y NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 219 NSE1-type. DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 TCGACTGGAAGTACTTGGCCA 0.612 NA 20 48 0 0 0 0 MMP2 4313 broad.mit.edu 37 16 55539340 55539340 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:55539340T>C uc002ehz.3 + 13 2280 c.1969T>C c.(1969-1971)TGG>CGG p.W657R MMP2_uc010vhd.1_Missense_Mutation_p.W581R|MMP2_uc010ccc.2_Missense_Mutation_p.W607R|MMP2_uc002eia.3_Missense_Mutation_p.W154R NM_004530 NP_004521 P08253 MMP2_HUMAN matrix metalloproteinase 2 isoform a 657 Required for inhibitor TIMP2 binding.|Hemopexin-like 4. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 11 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CAAATCCGACTGGCTAGGCTG 0.567 NA 8 175 0 0 0 0 NOB1 28987 broad.mit.edu 37 16 69782153 69782153 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:69782153C>T uc002exs.2 - 7 822 c.806G>A c.(805-807)CGC>CAC p.R269H NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 269 nucleus metal ion binding|protein binding 0 GCCATGGCAGCGCAAGATGTA 0.473 NA 5 41 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572217 76572217 + Missense_Mutation SNP C C G rs35153994 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:76572217C>G uc002feu.1 + 21 3585 c.3200C>G c.(3199-3201)TCT>TGT p.S1067C CNTNAP4_uc002fev.1_Missense_Mutation_p.S931C|CNTNAP4_uc010chb.1_Missense_Mutation_p.S994C|CNTNAP4_uc002fex.1_Missense_Mutation_p.S1070C NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1067 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GAATACCTTTCTGTGATCATT 0.358 NA 17 125 0 0 0 0 JPH3 57338 broad.mit.edu 37 16 87724057 87724057 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr16:87724057C>T uc002fkd.2 + 4 2345 c.2091C>T c.(2089-2091)TTC>TTT p.F697F JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 697 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) ACTTGACCTTCTCCCCGCCCC 0.672 NA 8 6 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578478 7578478 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:7578478G>T uc002gim.2 - 5 646 c.452C>A c.(451-453)CCC>CAC p.P151H TP53_uc002gig.1_Missense_Mutation_p.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(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) GCCGGGCGGGGGTGTGGAATC 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 24 4.07e-28 4.99e-28 1 0 MYH8 4626 broad.mit.edu 37 17 10298660 10298660 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:10298660C>G uc002gmm.2 - 34 4847 c.4752G>C c.(4750-4752)GAG>GAC p.E1584D uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1584 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 GGTCAATTTCCTCATCCTTTT 0.433 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 10 58 0 0 0 0 CCL23 6368 broad.mit.edu 37 17 34340342 34340342 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:34340342G>T uc002hkt.1 - 4 329 c.258C>A c.(256-258)CTC>CTA p.L86L CCL23_uc002hks.1_Silent_p.L103L NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 86 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CCTTCTTGGTGAGGAAGCTAG 0.542 NA 9 15 7.48e-07 8.8e-07 1 0 TTC25 83538 broad.mit.edu 37 17 40093075 40093075 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:40093075G>A uc002hyj.3 + 5 609 c.520G>A c.(520-522)GAG>AAG p.E174K TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E174K NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 174 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CACCAAGGGAGAGCCCAAGTG 0.522 NA 26 68 0 0 0 0 TBX21 30009 broad.mit.edu 37 17 45820480 45820480 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:45820480G>A uc002ilv.1 + 3 901 c.690G>A c.(688-690)GCG>GCA p.A230A NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 230 T-box. lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 ACACAGGAGCGCACTGGATGC 0.552 NA 34 56 0 0 0 0 TUBD1 51174 broad.mit.edu 37 17 57958324 57958324 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:57958324C>T uc002ixw.1 - 4 746 c.468G>A c.(466-468)CAG>CAA p.Q156Q TUBD1_uc010ddf.1_Silent_p.Q156Q|TUBD1_uc010ddg.1_Silent_p.Q121Q|TUBD1_uc010ddh.1_Silent_p.Q37Q|TUBD1_uc010wok.1_Silent_p.Q156Q|TUBD1_uc002ixx.1_Silent_p.Q156Q|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 156 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CTTCTAAATTCTGTGTAACGA 0.383 NA 21 93 0 0 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498721 73498721 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:73498721C>T uc002joc.2 - 18 2984 c.2434G>A c.(2434-2436)GAG>AAG p.E812K CASKIN2_uc010wsc.1_Missense_Mutation_p.E730K NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 812 Pro-rich. cytoplasm pancreas(1) 1 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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCTCCCCCTCAGCATCCCCC 0.692 NA 10 3 0 0 0 0 TMC8 147138 broad.mit.edu 37 17 76134756 76134756 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:76134756G>C uc002jup.2 + 14 2148 c.1766G>C c.(1765-1767)CGT>CCT p.R589P TMC8_uc002juq.2_Missense_Mutation_p.R366P|TMC8_uc002jur.1_Missense_Mutation_p.V39L NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 589 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ATTGGCCAGCGTGCCCTCCAC 0.667 NA Epidermodysplasia_Verruciformis_Familial_Clustering_of 7 65 0 0 0 0 CBX2 84733 broad.mit.edu 37 17 77753183 77753183 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:77753183G>T uc002jxc.2 + 3 181 c.139G>T c.(139-141)GAG>TAG p.E47* CBX2_uc002jxb.1_Nonsense_Mutation_p.E47* NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 47 Chromo. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAGCCGGAGGAGAACATCCT 0.632 NA 19 12 8.01e-06 9.35e-06 1 0 RNF213 57674 broad.mit.edu 37 17 78348328 78348328 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr17:78348328G>A uc002jyh.1 + 25 7455 c.7232G>A c.(7231-7233)CGT>CAT p.R2411H uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R793H NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AAGGCTCTCCGTGATGCTGTG 0.577 NA 41 28 0 0 0 0 DSG4 147409 broad.mit.edu 37 18 28968849 28968849 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr18:28968849G>A uc002kwq.2 + 5 520 c.385G>A c.(385-387)GCT>ACT p.A129T DSG4_uc002kwr.2_Missense_Mutation_p.A129T NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 129 Cadherin 1.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTATTGCCGGGCTCTGAATTC 0.368 NA 32 71 0 0 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436124 8436124 + Splice_Site SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:8436124G>A uc002mjq.1 + 6 953 c.758_splice c.e6-1 p.G253_splice ANGPTL4_uc002mjr.1_Splice_Site_p.G215_splice|ANGPTL4_uc010xkc.1_Splice_Site_p.G86_splice NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 protein isoform a precursor angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding ovary(1) 1 TCCCACTCCAGGCGAGTTCTG 0.647 NA 17 39 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15272483 15272483 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:15272483C>A uc002nan.2 - 33 6032 c.5956G>T c.(5956-5958)GAG>TAG p.E1986* NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1986 ANK 5.|Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TTGGCAGCCTCATAGCTGCCC 0.627 NA 3 13 0.004672 0.00504954 1 0 ZNF626 199777 broad.mit.edu 37 19 20807482 20807482 + Nonsense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:20807482C>A uc002npb.1 - 4 1351 c.1201G>T c.(1201-1203)GAA>TAA p.E401* ZNF626_uc002npc.1_Nonsense_Mutation_p.E325* NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 401 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTGCCACATTCTTCACATTTG 0.398 NA 22 70 2.28e-05 2.62e-05 1 0 ZNF208 7757 broad.mit.edu 37 19 22154781 22154781 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:22154781G>T uc002nqp.2 - 6 2820 c.2671C>A c.(2671-2673)CAT>AAT p.H891N ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ATTTTCTTATGTTCCATAAGG 0.408 NA 20 62 5.35e-07 6.32e-07 1 0 EID2 163126 broad.mit.edu 37 19 40030624 40030624 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:40030624C>T uc002oma.2 - 1 215 c.96G>A c.(94-96)CGG>CGA p.R32R NM_153232 NP_694964 Q8N6I1 EID2_HUMAN CREBBP/EP300 inhibitor 2 32 cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly nucleus SMAD binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) GGGCCGGCTCCCGCCTCCCGC 0.502 NA 15 23 0 0 0 0 ZNF574 64763 broad.mit.edu 37 19 42584413 42584413 + Missense_Mutation SNP G G A rs147085110 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:42584413G>A uc002osm.3 + 2 1824 c.1655G>A c.(1654-1656)CGG>CAG p.R552Q ZNF574_uc002osk.3_Missense_Mutation_p.R642Q NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 552 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CGGCCCTACCGGTGTGGGGAC 0.657 NA 51 87 0 0 0 0 TMEM145 284339 broad.mit.edu 37 19 42819348 42819348 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:42819348G>A uc002otk.1 + 7 566 c.514G>A c.(514-516)GAG>AAG p.E172K NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 172 integral to membrane 0 Prostate(69;0.00682) AGGGATCCTGGAGACAGATGT 0.448 NA 18 40 0 0 0 0 ZNF845 91664 broad.mit.edu 37 19 53855637 53855637 + Missense_Mutation SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:53855637A>G uc010ydv.1 + 4 1826 c.1709A>G c.(1708-1710)CAA>CGA p.Q570R ZNF845_uc010ydw.1_Missense_Mutation_p.Q570R NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 570 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTTACCATCAAGCAATCCAT 0.398 NA 4 41 0 0 0 0 MBOAT7 79143 broad.mit.edu 37 19 54678113 54678113 + Silent SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:54678113G>A uc002qdq.2 - 9 1310 c.1044C>T c.(1042-1044)ACC>ACT p.T348T TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.T32T|MBOAT7_uc010yem.1_Silent_p.T330T|MBOAT7_uc002qdr.2_Silent_p.T348T|MBOAT7_uc002qds.2_Silent_p.T275T|MBOAT7_uc010yen.1_Silent_p.T275T NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 348 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCAGCAGCATGGTCCAGGCGC 0.488 NA 11 25 0 0 0 0 NLRP13 126204 broad.mit.edu 37 19 56424476 56424476 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:56424476C>T uc010ygg.1 - 5 732 c.707G>A c.(706-708)AGG>AAG p.R236K NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 236 NACHT.|ATP (Potential). ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AACCCCTGCCCTCCCCACCAA 0.507 NA 4 130 0 0 0 0 EPAS1 2034 broad.mit.edu 37 2 46605175 46605175 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:46605175C>T uc002ruv.2 + 10 1880 c.1392C>T c.(1390-1392)GCC>GCT p.A464A EPAS1_uc002ruw.2_5'Flank NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 464 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AGGCAGCTGCCCCGGGCAGCA 0.682 NA 3 11 0 0 0 0 CCDC88A 55704 broad.mit.edu 37 2 55528370 55528370 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:55528370A>T uc002ryv.2 - 28 5555 c.4713T>A c.(4711-4713)GAT>GAA p.D1571E CCDC88A_uc010yoz.1_Missense_Mutation_p.D1544E|CCDC88A_uc010ypa.1_Missense_Mutation_p.D1571E|CCDC88A_uc010fbw.2_Missense_Mutation_p.D100E|CCDC88A_uc002ryu.2_Missense_Mutation_p.D826E|CCDC88A_uc002rys.2_Missense_Mutation_p.D529E|CCDC88A_uc002ryw.2_Missense_Mutation_p.D855E|CCDC88A_uc010fby.1_Missense_Mutation_p.D423E NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1572 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TACTAGAATCATCACTAACAC 0.308 NA 7 24 0 0 0 0 INPP4A 3631 broad.mit.edu 37 2 99156130 99156130 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:99156130T>A uc002syy.2 + 10 1203 c.810T>A c.(808-810)GAT>GAA p.D270E INPP4A_uc010yvj.1_Missense_Mutation_p.D270E|INPP4A_uc010yvk.1_Missense_Mutation_p.D270E|INPP4A_uc002syx.2_Missense_Mutation_p.D270E|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 270 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 TAGAGGAAGATGCAGCCAGGT 0.483 NA 3 46 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 166032739 166032739 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:166032739C>G uc002ucx.2 - 3 658 c.166G>C c.(166-168)GAA>CAA p.E56Q SCN3A_uc002ucy.2_Missense_Mutation_p.E56Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E56Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 56 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TTTCCAGCTTCCAAGTCACTA 0.428 NA 4 119 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 20 43 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3575209 3575209 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:3575209G>A uc002wim.2 + 20 3496 c.3406G>A c.(3406-3408)GAG>AAG p.E1136K ATRN_uc002wil.2_Missense_Mutation_p.E1136K NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 1136 Extracellular (Potential).|Laminin EGF-like 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 CAAGGGGGACGAGTGCCAGCT 0.597 NA 14 57 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3605205 3605205 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:3605205C>T uc002wim.2 + 25 3939 c.3849C>T c.(3847-3849)TTC>TTT p.F1283F NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 1283 Helical; (Potential). inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TACAGTTCTTCGTGACTTTCT 0.388 NA 34 197 0 0 0 0 ASXL1 171023 broad.mit.edu 37 20 31023531 31023531 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:31023531G>T uc002wxs.2 + 12 3442 c.3016G>T c.(3016-3018)GAA>TAA p.E1006* ASXL1_uc010geb.2_Nonsense_Mutation_p.E897* NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1006 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CTCTGACTTTGAAGGTCACCT 0.502 NA F|N|Mis MDS|CMML 32 53 8.17e-17 9.93e-17 1 0 MYH7B 57644 broad.mit.edu 37 20 33589835 33589835 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:33589835G>A uc002xbi.1 + 42 5979 c.5887G>A c.(5887-5889)GAA>AAA p.E1963K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1921 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGACATGGCGGAAACCCAGGC 0.672 NA 14 62 0 0 0 0 RALGAPB 57148 broad.mit.edu 37 20 37202933 37202933 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:37202933G>A uc002xiw.2 + 29 4540 c.4283G>A c.(4282-4284)CGA>CAA p.R1428Q RALGAPB_uc002xix.2_Missense_Mutation_p.R1425Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R1207Q NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1428 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 GTCAGCAGGCGAGCTCTTGGT 0.358 NA 9 154 0 0 0 0 OSBPL2 9885 broad.mit.edu 37 20 60835171 60835171 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:60835171C>G uc002yck.1 + 3 374 c.172C>G c.(172-174)CAG>GAG p.Q58E OSBPL2_uc002ycl.1_Missense_Mutation_p.Q46E|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 58 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GAACGGAATTCAGAAACACAG 0.453 NA 18 58 0 0 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594660 61594660 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr20:61594660C>T uc002yea.3 + 6 848 c.664C>T c.(664-666)CGG>TGG p.R222W SLC17A9_uc002ydz.3_Missense_Mutation_p.R216W|SLC17A9_uc011aap.1_Missense_Mutation_p.R242W NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 222 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 GGCCCAAAGCCGGCCGGTGTC 0.637 NA 19 42 0 0 0 0 WDR4 10785 broad.mit.edu 37 21 44299570 44299570 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr21:44299570C>G uc002zci.2 - 1 109 c.36G>C c.(34-36)CAG>CAC p.Q12H WDR4_uc002zck.1_Missense_Mutation_p.Q12H|WDR4_uc002zcl.1_Intron|WDR4_uc010gpg.1_Missense_Mutation_p.Q12H|WDR4_uc011aew.1_Intron|WDR4_uc010gph.1_5'UTR NM_033661 NP_387510 P57081 WDR4_HUMAN WD repeat domain 4 protein 12 tRNA modification cytoplasm|nucleoplasm protein binding ovary(1) 1 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) CCACCAACGTCTGCCCGCACA 0.682 NA 37 60 0 0 0 0 TSSK2 23617 broad.mit.edu 37 22 19118994 19118994 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:19118994T>C uc002zow.2 + 1 674 c.82T>C c.(82-84)TCT>CCT p.S28P DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 28 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) AAAAGTCAAATCTGCCTACTC 0.507 NA 14 34 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50671941 50671941 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:50671941C>T uc003bkb.1 - 3 1432 c.920G>A c.(919-921)AGA>AAA p.R307K TUBGCP6_uc010har.1_Missense_Mutation_p.R307K|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 307 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGGCTCCTCTCTGTGGCCAGG 0.637 NA 3 12 0 0 0 0 SBF1 6305 broad.mit.edu 37 22 50897810 50897810 + Missense_Mutation SNP C C A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr22:50897810C>A uc003blh.2 - 28 3895 c.3700G>T c.(3700-3702)GCG>TCG p.A1234S SBF1_uc011arx.1_Missense_Mutation_p.A898S NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1234 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTCGAGTCCGCCTGGGACTGG 0.512 NA 16 18 0.00316338 0.00343056 1 0 GRM7 2917 broad.mit.edu 37 3 6903352 6903352 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:6903352C>T uc003bqm.2 + 1 551 c.277C>T c.(277-279)CCC>TCC p.P93S GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P93S|GRM7_uc003bql.2_Missense_Mutation_p.P93S NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 93 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) CAACAGTGATCCCAACCTACT 0.607 NA 11 7 0 0 0 0 USP19 10869 broad.mit.edu 37 3 49148936 49148936 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:49148936C>T uc003cwd.1 - 20 3066 c.2905G>A c.(2905-2907)GAA>AAA p.E969K USP19_uc003cwa.2_Missense_Mutation_p.E777K|USP19_uc003cvz.3_Missense_Mutation_p.E1072K|USP19_uc011bcg.1_Missense_Mutation_p.E1060K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.E727K|USP19_uc011bch.1_Missense_Mutation_p.E1070K NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 969 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCTTACCTTCGGGTCGGGAC 0.607 NA 17 17 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107497345 107497345 + Nonsense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:107497345G>T uc010hpr.2 + 13 2509 c.2182G>T c.(2182-2184)GAA>TAA p.E728* BBX_uc003dwk.3_Nonsense_Mutation_p.E728*|BBX_uc003dwl.3_Missense_Mutation_p.Q391H|BBX_uc003dwm.3_Nonsense_Mutation_p.E728*|BBX_uc003dwo.3_Missense_Mutation_p.Q77H NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 728 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGTGTCCTCAGAACCGACTAA 0.438 NA 5 71 3.6e-05 4.08e-05 1 0 PLXND1 23129 broad.mit.edu 37 3 129281955 129281955 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:129281955G>T uc003emx.2 - 26 4750 c.4650C>A c.(4648-4650)AAC>AAA p.N1550K PLXND1_uc011blb.1_Missense_Mutation_p.N218K NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1550 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGGCCTCGATGTTCTCCCGCA 0.637 NA 17 23 3.46e-05 3.95e-05 1 0 AADAC 13 broad.mit.edu 37 3 151545495 151545495 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:151545495C>G uc003eze.2 + 5 825 c.735C>G c.(733-735)CTC>CTG p.L245L NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 245 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CCAAATCACTCATGGTCAGAT 0.363 NA 19 58 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155200527 155200527 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:155200527A>G uc011bok.1 - 23 3589 c.3312T>C c.(3310-3312)GGT>GGC p.G1104G PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.G1066G NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1104 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGATTTTCACACCATGCAGAT 0.473 NA 49 170 0 0 0 0 NLGN1 22871 broad.mit.edu 37 3 173997073 173997073 + Missense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:173997073G>C uc003fio.1 + 6 1705 c.1282G>C c.(1282-1284)GGC>CGC p.G428R NLGN1_uc010hww.1_Missense_Mutation_p.G468R|NLGN1_uc003fip.1_Missense_Mutation_p.G428R NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 445 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATATCCTGAAGGCAAAGATGT 0.343 NA 6 90 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 6 65 0 0 0 0 WDFY3 23001 broad.mit.edu 37 4 85752750 85752750 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:85752750C>T uc003hpd.2 - 8 993 c.585G>A c.(583-585)GTG>GTA p.V195V WDFY3_uc003hpf.2_Silent_p.V195V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 195 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) TGCACAGTTTCactaagatct 0.249 NA 18 41 0 0 0 0 SLC39A8 64116 broad.mit.edu 37 4 103226195 103226195 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:103226195A>T uc003hwb.1 - 4 1155 c.626T>A c.(625-627)CTT>CAT p.L209H SLC39A8_uc011ceo.1_Missense_Mutation_p.L209H|SLC39A8_uc003hwa.1_Missense_Mutation_p.L142H|SLC39A8_uc003hwc.2_Missense_Mutation_p.L209H NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), 209 Helical; (Potential). integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) AAAAAAGAAAAGTAGGTAAAA 0.348 NA 6 32 0 0 0 0 ARSJ 79642 broad.mit.edu 37 4 114823767 114823767 + Nonsense_Mutation SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:114823767G>C uc003ibq.1 - 2 2351 c.1463C>G c.(1462-1464)TCA>TGA p.S488* ARSJ_uc010imu.1_Nonsense_Mutation_p.S488*|ARSJ_uc010imv.1_Nonsense_Mutation_p.S316* NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN arylsulfatase J precursor 488 extracellular region arylsulfatase activity|metal ion binding ovary(1) 1 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTTGCCAGTTGACAAGGTGAT 0.512 NA 33 61 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175897109 175897109 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr4:175897109T>A uc003iuc.2 + 5 1103 c.433T>A c.(433-435)TTT>ATT p.F145I ADAM29_uc003iud.2_Missense_Mutation_p.F145I|ADAM29_uc010irr.2_Missense_Mutation_p.F145I|ADAM29_uc011cki.1_Missense_Mutation_p.F145I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 145 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCTACCACGTTTGAACATCT 0.383 NA 16 44 0 0 0 0 TTC23L 153657 broad.mit.edu 37 5 34845770 34845770 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr5:34845770G>A uc003jiu.2 + 3 350 c.247G>A c.(247-249)GAA>AAA p.E83K NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 83 Potential. binding central_nervous_system(1) 1 GCTGATTAAGGAAAAAATGGT 0.358 NA 3 28 0 0 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520157 159520157 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr5:159520157G>C uc011ded.1 - 2 1557 c.1500C>G c.(1498-1500)GGC>GGG p.G500G PWWP2A_uc003lxv.3_Silent_p.G500G|PWWP2A_uc011dec.1_Silent_p.G500G NM_001130864 NP_001124336 Q96N64 PWP2A_HUMAN PWWP domain containing 2A isoform b 500 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGCCATCTTGCCACTCCGCA 0.537 NA 5 21 0 0 0 0 JARID2 3720 broad.mit.edu 37 6 15501599 15501599 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:15501599G>A uc003nbj.2 + 8 2651 c.2407G>A c.(2407-2409)GAC>AAC p.D803N JARID2_uc011div.1_Missense_Mutation_p.D631N|JARID2_uc011diw.1_Missense_Mutation_p.D765N NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 803 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) AGAGGAGGAGGACAAAGGCGT 0.587 NA 5 27 0 0 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032187 26032187 + Silent SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:26032187G>T uc003nfs.1 - 1 102 c.102C>A c.(100-102)GGC>GGA p.G34G NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 34 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TTTTCACGCCGCCGGTAGCCG 0.627 NA 16 138 4.75e-09 5.69e-09 1 0 SCAND3 114821 broad.mit.edu 37 6 28554410 28554410 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:28554410C>T uc003nlo.2 - 1 703 c.85G>A c.(85-87)GAA>AAA p.E29K uc003nlp.1_5'Flank NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 29 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGTCTTCTTCTTTAACCTTT 0.502 NA 18 45 0 0 0 0 PAQR8 85315 broad.mit.edu 37 6 52268776 52268776 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:52268776C>T uc003pao.3 + 2 939 c.765C>T c.(763-765)TTC>TTT p.F255F NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 255 Helical; Name=5; (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) TCCTCTTCTTCCTGGTTAGCG 0.577 NA 23 52 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119341142 119341142 + Splice_Site SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:119341142C>T uc003pyj.2 - 4 1680 c.1332_splice c.e4+1 p.K444_splice FAM184A_uc003pyk.3_Splice_Site_p.K324_splice|FAM184A_uc003pyl.3_Splice_Site_p.K324_splice NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TTACTTTTTACCTTCTCCAGT 0.398 NA 7 60 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129724979 129724979 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:129724979G>T uc003qbn.2 + 40 5845 c.5740G>T c.(5740-5742)GCT>TCT p.A1914S LAMA2_uc003qbo.2_Missense_Mutation_p.A1914S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1914 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCTTGATGAGGCTAAAAACAT 0.398 NA 12 26 2.32e-05 2.66e-05 1 0 MAP3K4 4216 broad.mit.edu 37 6 161470492 161470492 + Missense_Mutation SNP G G C rs111941258 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:161470492G>C uc003qtn.2 + 3 1330 c.1188G>C c.(1186-1188)TGG>TGC p.W396C MAP3K4_uc010kkc.1_Missense_Mutation_p.W396C|MAP3K4_uc003qto.2_Missense_Mutation_p.W396C|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 396 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCTGTTTGTGGTTAAACATCA 0.403 NA 10 54 0 0 0 0 MIOS 54468 broad.mit.edu 37 7 7613368 7613368 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:7613368C>T uc003srf.2 + 4 1570 c.1262C>T c.(1261-1263)CCA>CTA p.P421L MIOS_uc010ktp.1_Missense_Mutation_p.P421L NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 421 WD 6. 0 AATGAAGATCCACAGCTCAAG 0.408 NA 19 81 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45725669 45725669 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:45725669C>T uc003tne.3 + 13 2200 c.2182C>T c.(2182-2184)CAC>TAC p.H728Y NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 728 Helical; (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 integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGAGTCTACACACCATGCCCT 0.637 NA 16 61 0 0 0 0 DDC 1644 broad.mit.edu 37 7 50611693 50611693 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:50611693G>T uc003tpf.3 - 2 177 c.91C>A c.(91-93)CCT>ACT p.P31T DDC_uc010kza.2_Missense_Mutation_p.P31T|DDC_uc003tpg.3_Missense_Mutation_p.P31T NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 31 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCCACGTCAGGGTAGACCTGG 0.567 NA 28 253 1.62e-16 1.96e-16 1 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + Missense_Mutation SNP C C G rs147711959 by1000genomes TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:72209576C>G uc011kej.1 - 8 1126 c.967G>C c.(967-969)GAT>CAT p.D323H TYW1B_uc011keh.1_Missense_Mutation_p.D161H|TYW1B_uc011kei.1_5'UTR|TYW1B_uc011kek.1_RNA NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B isoform 323 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity 0 CTCGGAGCATCGACTATGACA 0.413 NA 3 61 0 0 0 0 PDAP1 11333 broad.mit.edu 37 7 99002548 99002548 + Silent SNP C C A rs139029496 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:99002548C>A uc003uqe.2 - 2 163 c.42G>T c.(40-42)GCG>GCT p.A14A NM_014891 NP_055706 Q13442 HAP28_HUMAN PDGFA associated protein 1 14 cell proliferation|signal transduction 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TATACTGCCTCGCCCGGCCTT 0.632 NA 16 56 0.000422831 0.000463239 1 0 OR2A2 442361 broad.mit.edu 37 7 143806750 143806750 + Silent SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr7:143806750C>G uc011ktz.1 + 1 75 c.75C>G c.(73-75)CTC>CTG p.L25L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 25 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TGGCGATTCTCCTCTGTGGAC 0.517 NA 8 168 0 0 0 0 BRF2 55290 broad.mit.edu 37 8 37702008 37702008 + Nonstop_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:37702008T>C uc003xkk.2 - 4 1370 c.1260A>G c.(1258-1260)TGA>TGG p.*420W NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 420 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TGGATATCCATCAGGGAGGGT 0.488 NA 15 44 0 0 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136554958 136554958 + Missense_Mutation SNP A A T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:136554958A>T uc003yuv.2 + 3 663 c.269A>T c.(268-270)GAA>GTA p.E90V KHDRBS3_uc003yuw.2_Missense_Mutation_p.E90V NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 90 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TTACAAGAAGAAACCTTGACA 0.363 NA 6 63 0 0 0 0 APBA1 320 broad.mit.edu 37 9 72082878 72082878 + Missense_Mutation SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:72082878C>T uc004ahh.2 - 5 1619 c.1343G>A c.(1342-1344)GGA>GAA p.G448E NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 448 Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GTCGCAGGGTCCCGGAACTGT 0.557 NA 65 154 0 0 0 0 TNC 3371 broad.mit.edu 37 9 117808854 117808854 + Missense_Mutation SNP T T G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:117808854T>G uc004bjj.3 - 17 5322 c.4960A>C c.(4960-4962)ATC>CTC p.I1654L TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1654 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTATCTCTGATTTTGAGAACA 0.493 NA 43 135 0 0 0 0 PHF19 26147 broad.mit.edu 37 9 123632758 123632758 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:123632758C>T uc004bks.1 - 4 580 c.327G>A c.(325-327)CCG>CCA p.P109P PHF19_uc011lyf.1_5'Flank|PHF19_uc004bkr.2_5'Flank|PHF19_uc004bkt.2_Silent_p.P109P|PHF19_uc010mvk.2_Silent_p.P109P NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 109 PHD-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 TCTCATTCAGCGGCCCTGATG 0.627 NA 24 183 0 0 0 0 LCN1 3933 broad.mit.edu 37 9 138415134 138415134 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr9:138415134G>A uc004cfz.1 + 3 336 c.278G>A c.(277-279)GGA>GAA p.G93E LCN1_uc004cga.1_Missense_Mutation_p.G93E NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor 93 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) GACGAGCCGGGAAAATACACG 0.632 NA 5 45 0 0 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734834 12734834 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:12734834C>T uc004cuz.1 + 15 2762 c.2256C>T c.(2254-2256)GAC>GAT p.D752D FRMPD4_uc011mij.1_Silent_p.D744D NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 752 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGACGAGGACGAGGTGAGCT 0.582 NA 6 142 0 0 0 0 KDM6A 7403 broad.mit.edu 37 X 44949094 44949094 + Missense_Mutation SNP T T A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:44949094T>A uc004dge.3 + 25 4030 c.3655T>A c.(3655-3657)TGG>AGG p.W1219R KDM6A_uc011mkz.1_Missense_Mutation_p.W1271R|KDM6A_uc011mla.1_Missense_Mutation_p.W1174R|KDM6A_uc011mlb.1_Missense_Mutation_p.W1226R|KDM6A_uc011mlc.1_Missense_Mutation_p.W923R|KDM6A_uc011mld.1_Missense_Mutation_p.W858R NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1219 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AGATTTGGTCTGGATAAATGC 0.408 NA D|N|F|S renal|oesophageal SCC|MM 7 34 0 0 0 0 CLCN5 1184 broad.mit.edu 37 X 49854987 49854987 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:49854987G>A uc004dos.1 + 10 1997 c.1749G>A c.(1747-1749)ATG>ATA p.M583I CLCN5_uc004dor.1_Missense_Mutation_p.M653I|CLCN5_uc004doq.1_Missense_Mutation_p.M653I|CLCN5_uc004dot.1_Missense_Mutation_p.M583I NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 583 Cytoplasmic (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) CCCTGGCAATGGATGTGATGA 0.468 NA 4 65 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86888820 86888820 + Missense_Mutation SNP G G A TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:86888820G>A uc004efb.2 + 8 1803 c.1621G>A c.(1621-1623)GAA>AAA p.E541K KLHL4_uc004efa.2_Missense_Mutation_p.E541K NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 541 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 AAATACTGTAGAAAGATGGGA 0.413 NA 4 59 0 0 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971267 101971267 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:101971267C>T uc004ejk.2 + 4 2804 c.1470C>T c.(1468-1470)ACC>ACT p.T490T GPRASP2_uc004ejl.2_Silent_p.T490T|GPRASP2_uc004ejm.2_Silent_p.T490T|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 490 cytoplasm protein binding ovary(1) 1 GGCCCCAAACCTGGGACGAGG 0.507 NA 30 121 0 0 0 0 PRPS1 5631 broad.mit.edu 37 X 106888430 106888430 + Missense_Mutation SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:106888430T>C uc004ene.3 + 5 759 c.554T>C c.(553-555)CTG>CCG p.L185P PRPS1_uc010npg.2_Missense_Mutation_p.L152P|PRPS1_uc011msj.1_5'UTR NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 185 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 GCAGACAGGCTGAATGTGGAC 0.438 NA 9 286 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107978579 107978579 + Silent SNP A A G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:107978579A>G uc004eoc.2 - 1 1029 c.996T>C c.(994-996)TGT>TGC p.C332C NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 332 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 ATTCGTCTGCACACAAGGCTC 0.587 NA 100 199 0 0 0 0 DCX 1641 broad.mit.edu 37 X 110644290 110644290 + Silent SNP G G C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:110644290G>C uc004epd.2 - 3 1048 c.876C>G c.(874-876)CTC>CTG p.L292L DCX_uc011msv.1_Silent_p.L292L|DCX_uc004epe.2_Silent_p.L211L|DCX_uc004epf.2_Silent_p.L211L|DCX_uc004epg.2_Silent_p.L211L NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 292 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 TGATATCAGTGAGGACTTGCT 0.493 NA 62 100 0 0 0 0 ALG13 79868 broad.mit.edu 37 X 110979971 110979971 + Silent SNP T T C TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:110979971T>C uc011msy.1 + 23 2593 c.2559T>C c.(2557-2559)GCT>GCC p.A853A ALG13_uc011msx.1_Silent_p.A749A|ALG13_uc011msz.1_Silent_p.A775A|ALG13_uc011mta.1_Silent_p.A749A|ALG13_uc011mtb.1_Silent_p.A749A Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 853 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 CAGTTGCAGCTTCCTGTGCCA 0.403 NA 21 171 0 0 0 0 AKAP14 158798 broad.mit.edu 37 X 119054501 119054501 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:119054501G>T uc004ese.2 + 7 663 c.525G>T c.(523-525)TGG>TGT p.W175C AKAP14_uc004esf.2_Missense_Mutation_p.W115C NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 175 cytoplasm 0 GAGAAAACTGGCAGAAGAATC 0.338 NA 19 39 1.16e-05 1.34e-05 1 0 CUL4B 8450 broad.mit.edu 37 X 119666336 119666336 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:119666336C>G uc004esw.2 - 20 2871 c.2434G>C c.(2434-2436)GAT>CAT p.D812H CUL4B_uc010nqq.2_Missense_Mutation_p.D513H|CUL4B_uc004esv.2_Missense_Mutation_p.D794H NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 812 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TTGAAATCATCATTACAAATG 0.368 NA 15 45 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122459926 122459926 + Missense_Mutation SNP G G T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:122459926G>T uc004etq.3 + 5 851 c.558G>T c.(556-558)TGG>TGT p.W186C GRIA3_uc004etr.3_Missense_Mutation_p.W186C|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.W170C NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 186 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) AAAACAACTGGCAAGTAACAG 0.418 NA 15 46 0.000308642 0.000339295 1 0 PLXNA3 55558 broad.mit.edu 37 X 153698126 153698126 + Silent SNP C C T TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chrX:153698126C>T uc004flm.2 + 28 4967 c.4794C>T c.(4792-4794)TAC>TAT p.Y1598Y NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1598 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCAGCCGCTACGGTAGGTGTC 0.582 NA 17 49 0 0 0 0 OR10X1 128367 broad.mit.edu 37 1 158548862 158548862 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:158548862delC uc010pin.1 - 1 828 c.828delG c.(826-828)TTGfs p.L276fs NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 276 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CTTCTGGCTTCAAATAAACAA 0.493 NA 11 130 --- --- --- --- NA NA NA NA LYST 1130 broad.mit.edu 37 1 235972380 235972385 + In_Frame_Del DEL TGTTAT TGTTAT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr1:235972380_235972385delTGTTAT uc001hxj.2 - 5 1908_1913 c.1733_1738delATAACA c.(1732-1740)CATAACATT>CTT p.578_580HNI>L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_In_Frame_Del_p.578_580HNI>L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 578_580 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CATATTCCAATGTTATGAACACCCGA 0.442 NA Chediak-Higashi_syndrome 7 134 --- --- --- --- NA NA NA NA TRIM21 6737 broad.mit.edu 37 11 4406682 4406684 + In_Frame_Del DEL AGA AGA - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:4406682_4406684delAGA uc001lyy.1 - 7 1372_1374 c.1259_1261delTCT c.(1258-1263)TTCTAC>TAC p.F420del NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 420 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) GTGATGTTGTAGAAGGAGACCAT 0.532 NA 7 12 --- --- --- --- NA NA NA NA VPS37C 55048 broad.mit.edu 37 11 60899313 60899313 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr11:60899313delC uc001nqv.1 - 5 1107 c.1047delG c.(1045-1047)GGGfs p.G349fs NM_017966 NP_060436 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37C 349 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane 0 GCCAGGCAGGCCCCGGCGGTG 0.697 NA 2 4 --- --- --- --- NA NA NA NA KRT73 319101 broad.mit.edu 37 12 53007615 53007616 + Frame_Shift_Del DEL GG GG - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:53007615_53007616delGG uc001sas.2 - 5 875_876 c.840_841delCC c.(838-843)TCCCACfs p.S280fs NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 280_281 Rod.|Linker 12. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCTGATGTGGGACTGGATCT 0.559 NA 11 141 --- --- --- --- NA NA NA NA STAC3 246329 broad.mit.edu 37 12 57640658 57640659 + Frame_Shift_Del DEL AC AC - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr12:57640658_57640659delAC uc001snp.2 - 6 726_727 c.531_532delGT c.(529-534)GTGTTTfs p.V177fs STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Frame_Shift_Del_p.V138fs|STAC3_uc010srm.1_5'UTR NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 177_178 intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 AGGGTTTCAAACACAGGATCAT 0.51 NA 52 151 --- --- --- --- NA NA NA NA JUB 84962 broad.mit.edu 37 14 23450563 23450563 + Frame_Shift_Del DEL C C - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr14:23450563delC uc001whz.2 - 1 1289 c.913delG c.(913-915)GAGfs p.E305fs NM_032876 NP_116265 Q96IF1 JUB_HUMAN ajuba isoform 1 305 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding 0 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0122) CCCGACGGCTCAATCCCCGAG 0.697 NA 11 13 --- --- --- --- NA NA NA NA DOCK6 57572 broad.mit.edu 37 19 11313343 11313343 + Frame_Shift_Del DEL G G - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr19:11313343delG uc002mqs.3 - 42 5319 c.5278delC c.(5278-5280)CACfs p.H1760fs DOCK6_uc002mqr.3_Frame_Shift_Del_p.H160fs|DOCK6_uc010xlq.1_Frame_Shift_Del_p.H1099fs NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1760 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TCACCGAAGTGGGCGCCGTAG 0.617 NA 7 209 --- --- --- --- NA NA NA NA FBXO48 554251 broad.mit.edu 37 2 68691399 68691400 + Frame_Shift_Del DEL AT AT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr2:68691399_68691400delAT uc002seo.2 - 4 817_818 c.409_410delAT c.(409-411)ATGfs p.M137fs NM_001024680 NP_001019851 Q5FWF7 FBX48_HUMAN F-box protein 48 137 0 CATTGGGTACATGATTTTTTCT 0.391 NA 16 205 --- --- --- --- NA NA NA NA TPD52L1 7164 broad.mit.edu 37 6 125541335 125541345 + Splice_Site DEL TTCAGGTATGT TTCAGGTATGT - rs111553148 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr6:125541335_125541345delTTCAGGTATGT uc003pzu.1 + 2 354 c.135_splice c.e2+1 p.Q45_splice TPD52L1_uc003pzv.1_Splice_Site_p.Q45_splice|TPD52L1_uc003pzw.1_Splice_Site_p.Q45_splice|TPD52L1_uc003pzx.1_Splice_Site_p.Q16_splice|TPD52L1_uc003pzy.1_Splice_Site_p.Q16_splice|TPD52L1_uc003pzz.1_Splice_Site_p.Q16_splice NM_003287 NP_003278 Q16890 TPD53_HUMAN tumor protein D52-like 1 isoform 1 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GCAGAGTTAGTTCAGGTATGTTTAGTAATCT 0.355 NA 9 78 --- --- --- --- NA NA NA NA DEPDC6 64798 broad.mit.edu 37 8 120977486 120977486 + Frame_Shift_Del DEL A A - rs35198895 TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c984165c-88ea-4840-a980-be818db16820 cc2cb7ff-1c89-4a0b-b833-9d9a6848293d g.chr8:120977486delA uc003yow.3 + 4 627 c.440delA c.(439-441)GAAfs p.E147fs DEPDC6_uc011lid.1_Frame_Shift_Del_p.E46fs NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 147 DEP 2. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATGAGCCCTGAAAACACACTC 0.468 NA 7 56 --- --- --- --- NA NA NA NA