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 ZC3H12A 80149 broad.mit.edu 37 1 37949128 37949128 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:37949128G>C uc001cbb.3 + 6 1866 c.1716G>C c.(1714-1716)GTG>GTC p.V572V ZC3H12A_uc001cbc.1_Silent_p.V367V NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 572 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGAGGCTGTGATGGGGCGCT 0.657 NA 8 46 0 0 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610609 47610609 + Missense_Mutation SNP G G A rs141856283 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:47610609G>A uc001cqv.1 + 9 1240 c.1189G>A c.(1189-1191)GTC>ATC p.V397I CYP4A22_uc009vyo.2_Missense_Mutation_p.V397I|CYP4A22_uc009vyp.2_Missense_Mutation_p.V299I NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 397 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 CAGCACTCCCGTCACCTTCCC 0.582 NA 7 58 0 0 0 0 CACHD1 57685 broad.mit.edu 37 1 65099811 65099811 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:65099811G>A uc001dbo.1 + 7 826 c.721G>A c.(721-723)GAG>AAG p.E241K CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 292 Extracellular (Potential).|VWFA. calcium ion transport integral to membrane ovary(2) 2 AGCCACCAGTGAGACAAAAAG 0.473 NA 7 70 0 0 0 0 PDE4B 5142 broad.mit.edu 37 1 66833700 66833700 + Silent SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:66833700T>C uc001dcn.2 + 15 1805 c.1614T>C c.(1612-1614)GTT>GTC p.V538V PDE4B_uc009war.2_Silent_p.V446V|PDE4B_uc001dco.2_Silent_p.V538V|PDE4B_uc001dcp.2_Silent_p.V523V|PDE4B_uc001dcq.2_Silent_p.V366V|PDE4B_uc009was.2_Silent_p.V305V NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 538 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CGAAGAAAGTTACAAGTTCAG 0.388 NA 12 90 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103355090 103355090 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:103355090C>G uc001dul.2 - 59 4703 c.4385G>C c.(4384-4386)GGT>GCT p.G1462A COL11A1_uc001duk.2_Missense_Mutation_p.G658A|COL11A1_uc001dum.2_Missense_Mutation_p.G1474A|COL11A1_uc001dun.2_Missense_Mutation_p.G1423A|COL11A1_uc009weh.2_Missense_Mutation_p.G1346A NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1462 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGAGGACCAATCAGGCC 0.388 NA 14 156 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216803 111216803 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:111216803G>A uc001dzv.1 - 1 853 c.629C>T c.(628-630)CCC>CTC p.P210L NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 210 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGGGCAAGGGCCGCTCCTC 0.677 NA 4 55 0 0 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487601 117487601 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:117487601C>T uc001egv.1 + 3 856 c.719C>T c.(718-720)GCC>GTC p.A240V NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 240 Ig-like C2-type 2.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCTCTGTCTGCCGACCAGGGC 0.657 NA 3 55 0 0 0 0 NBPF7 343505 broad.mit.edu 37 1 120378772 120378772 + Missense_Mutation SNP G G A rs76727176 byFrequency TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:120378772G>A uc010oxk.1 - 7 1595 c.974C>T c.(973-975)ACG>ATG p.T325M NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 325 NBPF 2. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) ACAAGAAGTCGTAACCCTTTC 0.488 NA 4 85 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144952292 144952292 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:144952292T>C uc001elw.3 - 4 718 c.427A>G c.(427-429)AAA>GAA p.K143E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.K209E|PDE4DIP_uc001emc.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emd.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emg.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emh.2_Missense_Mutation_p.K280E NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 143 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCTTCAGTTTCTCTGAGAGC 0.532 NA T PDGFRB MPD 3 122 0 0 0 0 NES 10763 broad.mit.edu 37 1 156640663 156640663 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:156640663C>A uc001fpq.2 - 4 3450 c.3317G>T c.(3316-3318)GGA>GTA p.G1106V NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1106 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCAGCCCTCCCACCCCCTG 0.657 NA 12 62 1.58e-08 1.85e-08 1 0 DARC 2532 broad.mit.edu 37 1 159176142 159176142 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:159176142G>A uc001fto.2 + 2 1153 c.913G>A c.(913-915)GCC>ACC p.A305T DARC_uc001ftp.3_Missense_Mutation_p.A307T NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 305 Helical; Name=7; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) CCTGCTCCTCGCCCTATTCTG 0.592 NA 97 539 0 0 0 0 TOR3A 64222 broad.mit.edu 37 1 179064256 179064256 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:179064256T>C uc001gmd.2 + 6 1249 c.1097T>C c.(1096-1098)ATA>ACA p.I366T TOR3A_uc010pnd.1_Missense_Mutation_p.I150T NM_022371 NP_071766 Q9H497 TOR3A_HUMAN torsin family 3, member A precursor 366 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding pancreas(1) 1 CTGGATGAAATAGCCCAGATG 0.507 NA 27 311 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200529861 200529861 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:200529861C>A uc010ppk.1 - 26 4658 c.4219G>T c.(4219-4221)GCC>TCC p.A1407S KIF14_uc010ppj.1_Missense_Mutation_p.A916S NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1407 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 TGGACACTGGCAGCTTTATTG 0.383 NA 23 188 3.84e-06 4.37e-06 1 0 CAMK1G 57172 broad.mit.edu 37 1 209786185 209786185 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:209786185C>T uc001hhd.2 + 12 1498 c.1396C>T c.(1396-1398)CGG>TGG p.R466W CAMK1G_uc001hhe.2_Missense_Mutation_p.R466W NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 466 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTCCCACTGCCGGGCAGGGCA 0.502 NA 8 121 0 0 0 0 AHCTF1 25909 broad.mit.edu 37 1 247059207 247059207 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:247059207T>C uc001ibu.1 - 12 1651 c.1644A>G c.(1642-1644)ATA>ATG p.I548M AHCTF1_uc001ibv.1_Missense_Mutation_p.I557M|AHCTF1_uc009xgs.1_Translation_Start_Site NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 548 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTGCTGACAATATAGCTTCTA 0.368 NA 17 200 0 0 0 0 OR2T33 391195 broad.mit.edu 37 1 248436962 248436962 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:248436962C>T uc010pzi.1 - 1 155 c.155G>A c.(154-156)CGG>CAG p.R52Q NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CGTGTGGAGCCGGTGGTCCCA 0.527 NA 33 200 0 0 0 0 OR2M7 391196 broad.mit.edu 37 1 248486986 248486986 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:248486986C>A uc010pzk.1 - 1 885 c.885G>T c.(883-885)AAG>AAT p.K295N NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGTCACTTCCTTGTTGCGGA 0.423 NA 13 108 1.05e-09 1.24e-09 1 0 COL13A1 1305 broad.mit.edu 37 10 71707080 71707080 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:71707080C>T uc001jpr.1 + 36 2543 c.2007C>T c.(2005-2007)CCC>CCT p.P669P COL13A1_uc001jqj.1_Silent_p.P642P|COL13A1_uc001jps.1_Silent_p.P640P|COL13A1_uc001jpt.1_Silent_p.P628P|COL13A1_uc001jpu.1_Silent_p.P638P|COL13A1_uc001jpv.1_Silent_p.P643P|COL13A1_uc001jpx.1_Silent_p.P620P|COL13A1_uc001jpw.1_Silent_p.P616P|COL13A1_uc001jpy.1_Silent_p.P607P|COL13A1_uc001jpz.1_Silent_p.P612P|COL13A1_uc001jqa.1_Silent_p.P609P|COL13A1_uc001jqc.1_Silent_p.P654P|COL13A1_uc001jqb.1_Silent_p.P591P|COL13A1_uc001jql.2_Silent_p.P669P|COL13A1_uc001jqd.1_Silent_p.P657P|COL13A1_uc001jqe.1_Silent_p.P652P|COL13A1_uc001jqf.1_Silent_p.P650P|COL13A1_uc001jqg.1_Silent_p.P647P|COL13A1_uc001jqh.1_Silent_p.P657P|COL13A1_uc001jqi.1_Silent_p.P655P|COL13A1_uc010qjf.1_Silent_p.P444P NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 669 Extracellular (Potential).|Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) ATGGACCACCCGGGGACAAGG 0.517 NA 4 80 0 0 0 0 KIF20B 9585 broad.mit.edu 37 10 91476203 91476203 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:91476203G>C uc001kgs.1 + 9 1023 c.951G>C c.(949-951)TGG>TGC p.W317C KIF20B_uc001kgr.1_Missense_Mutation_p.W317C NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 317 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 ATCTACAATGGATTCAAGTAT 0.303 NA 5 46 0 0 0 0 CYP26C1 340665 broad.mit.edu 37 10 94824176 94824176 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:94824176G>A uc010qns.1 + 4 744 c.744G>A c.(742-744)GAG>GAA p.E248E CYP26C1_uc009xud.2_Intron NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 248 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) GGCACCTGGAGGGGGCCATTT 0.612 NA 3 66 0 0 0 0 PDZD7 79955 broad.mit.edu 37 10 102781636 102781636 + Silent SNP G G A rs148746572 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:102781636G>A uc001kso.1 - 6 1001 c.786C>T c.(784-786)AAC>AAT p.N262N PDZD7_uc001ksn.2_Silent_p.N262N NM_024895 NP_079171 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 262 PDZ 2. cilium|nucleus protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) ACCTGACACCGTTGGCTGCCA 0.622 NA 24 160 0 0 0 0 HTRA1 5654 broad.mit.edu 37 10 124266371 124266371 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:124266371G>A uc001lgj.2 + 4 1070 c.942G>A c.(940-942)ATG>ATA p.M314I NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 314 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACTCAGACATGGACTACATCC 0.602 NA 15 78 0 0 0 0 OR5P2 120065 broad.mit.edu 37 11 7817810 7817810 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:7817810G>T uc001mfp.1 - 1 680 c.680C>A c.(679-681)ACT>AAT p.T227N NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTGCCCCTCAGTGGAGCGCAT 0.483 NA 7 122 0.00198382 0.00215053 1 0 SPON1 10418 broad.mit.edu 37 11 14282159 14282159 + Silent SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:14282159A>T uc001mle.2 + 15 2395 c.1857A>T c.(1855-1857)CCA>CCT p.P619P NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein 619 TSP type-1 4. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding 0 Epithelial(150;0.00898) TGCTGTCCCCATGGTCCGAGT 0.547 NA 10 85 0 0 0 0 CELF1 10658 broad.mit.edu 37 11 47508744 47508744 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:47508744C>G uc001nfl.2 - 2 238 c.228G>C c.(226-228)CAG>CAC p.Q76H CELF1_uc001nfm.2_Missense_Mutation_p.Q76H|CELF1_uc001nfn.2_Missense_Mutation_p.Q76H|CELF1_uc001nfo.1_Missense_Mutation_p.Q103H|CELF1_uc010rhm.1_Missense_Mutation_p.Q76H|CELF1_uc001nfp.2_Missense_Mutation_p.Q103H|CELF1_uc001nfq.1_Missense_Mutation_p.Q76H|CELF1_uc001nfr.1_Missense_Mutation_p.Q76H NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 76 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 GAAGAGCATTCTGAGCTTCTA 0.373 NA 4 187 0 0 0 0 OR5R1 219479 broad.mit.edu 37 11 56185534 56185534 + Missense_Mutation SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:56185534T>A uc010rji.1 - 1 175 c.175A>T c.(175-177)ATG>TTG p.M59L NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAATAGTACATAGGTGTGTGG 0.438 NA 10 73 0 0 0 0 SSRP1 6749 broad.mit.edu 37 11 57094220 57094220 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:57094220G>A uc001njt.2 - 16 2282 c.2015C>T c.(2014-2016)TCT>TTT p.S672F TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 672 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 CTCTCCCGAAGAGCTCTCATC 0.552 NA 6 146 0 0 0 0 CTNND1 1500 broad.mit.edu 37 11 57569359 57569359 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:57569359G>T uc001nmc.3 + 7 1682 c.1111G>T c.(1111-1113)GTG>TTG p.V371L CTNND1_uc001nlh.1_Missense_Mutation_p.V371L|CTNND1_uc001nlu.3_Missense_Mutation_p.V270L|CTNND1_uc001nlt.3_Missense_Mutation_p.V270L|CTNND1_uc001nls.3_Missense_Mutation_p.V270L|CTNND1_uc001nlw.3_Missense_Mutation_p.V270L|CTNND1_uc001nmf.3_Missense_Mutation_p.V371L|CTNND1_uc001nmd.3_Missense_Mutation_p.V317L|CTNND1_uc001nlk.3_Missense_Mutation_p.V317L|CTNND1_uc001nme.3_Missense_Mutation_p.V371L|CTNND1_uc001nll.3_Missense_Mutation_p.V317L|CTNND1_uc001nmg.3_Missense_Mutation_p.V317L|CTNND1_uc001nlj.3_Missense_Mutation_p.V317L|CTNND1_uc001nlr.3_Missense_Mutation_p.V317L|CTNND1_uc001nlp.3_Missense_Mutation_p.V317L|CTNND1_uc001nlx.3_Missense_Mutation_p.V48L|CTNND1_uc001nlz.3_Missense_Mutation_p.V48L|CTNND1_uc009ymn.2_Missense_Mutation_p.V48L|CTNND1_uc001nlm.3_Missense_Mutation_p.V371L|CTNND1_uc001nly.3_Missense_Mutation_p.V48L|CTNND1_uc001nmb.3_Missense_Mutation_p.V48L|CTNND1_uc001nma.3_Missense_Mutation_p.V48L|CTNND1_uc001nmi.3_Missense_Mutation_p.V270L|CTNND1_uc001nmh.3_Missense_Mutation_p.V371L|CTNND1_uc001nlq.3_Missense_Mutation_p.V270L|CTNND1_uc001nln.3_Missense_Mutation_p.V371L|CTNND1_uc001nli.3_Missense_Mutation_p.V371L|CTNND1_uc001nlo.3_Missense_Mutation_p.V270L|CTNND1_uc001nlv.3_Missense_Mutation_p.V270L NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 371 ARM 1. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) GCTGCCAGAGGTGATCGCCAT 0.537 NA 6 104 0.000157383 0.000175021 1 0 INTS5 80789 broad.mit.edu 37 11 62416747 62416747 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:62416747G>C uc001nud.2 - 2 858 c.805C>G c.(805-807)CAG>GAG p.Q269E GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 269 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 GAGGGGGTCTGAGAAGAGCTT 0.577 NA 4 70 0 0 0 0 CCND1 595 broad.mit.edu 37 11 69457891 69457891 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:69457891C>T uc001opa.2 + 2 500 c.291C>T c.(289-291)AGC>AGT p.S97S NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 97 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TGAAAAAGAGCCGCCTGCAGC 0.602 NA T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 4 101 0 0 0 0 ORAOV1 220064 broad.mit.edu 37 11 69482751 69482751 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:69482751A>G uc001opc.2 - 4 415 c.257T>C c.(256-258)ATT>ACT p.I86T ORAOV1_uc010rqi.1_Missense_Mutation_p.I86T|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Missense_Mutation_p.I27T NM_153451 NP_703152 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 86 0 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GATCATTCCAATCAATGATTC 0.403 NA 9 699 0 0 0 0 TAGLN 6876 broad.mit.edu 37 11 117075006 117075006 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:117075006G>A uc001pqm.2 + 5 658 c.537G>A c.(535-537)ATG>ATA p.M179I uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.M179I|TAGLN_uc001pqo.2_Missense_Mutation_p.M179I|TAGLN_uc001pqp.2_Missense_Mutation_p.M179I|uc001pqq.1_5'Flank NM_003186 NP_003177 Q01995 TAGL_HUMAN transgelin 179 Calponin-like. M -> V (in Ref. 2; AAA58375). muscle organ development cytoplasm actin binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435) GCCTTCAGATGGGCAGCAACA 0.587 NA 3 99 0 0 0 0 HYOU1 10525 broad.mit.edu 37 11 118921809 118921809 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:118921809C>T uc001puu.2 - 14 1796 c.1603G>A c.(1603-1605)GAG>AAG p.E535K HYOU1_uc001put.2_Missense_Mutation_p.E500K|HYOU1_uc010ryu.1_Missense_Mutation_p.E555K|HYOU1_uc010ryv.1_Missense_Mutation_p.E424K|HYOU1_uc001pux.3_Missense_Mutation_p.E535K|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E535K NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 535 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CCCTTGGACTCGTAGTCAGGA 0.527 NA 6 81 0 0 0 0 CD163 9332 broad.mit.edu 37 12 7637727 7637727 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:7637727G>C uc001qsz.3 - 11 2872 c.2744C>G c.(2743-2745)GCC>GGC p.A915G CD163_uc001qta.3_Missense_Mutation_p.A915G|CD163_uc009zfw.2_Missense_Mutation_p.A948G NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 915 SRCR 8.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CGAGGGGCTGGCCAGTCTCTT 0.517 NA 18 214 0 0 0 0 EPS8 2059 broad.mit.edu 37 12 15776179 15776179 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:15776179G>T uc009zif.2 - 20 2362 c.2268C>A c.(2266-2268)TTC>TTA p.F756L EPS8_uc001rdb.2_Missense_Mutation_p.F756L|EPS8_uc009zig.2_Missense_Mutation_p.F496L|EPS8_uc010shv.1_Missense_Mutation_p.F496L NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 756 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TATTGAGAGAGAAAAGTTGTG 0.378 NA 19 120 1.68e-08 1.96e-08 1 0 OR6C70 390327 broad.mit.edu 37 12 55863666 55863666 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:55863666C>T uc010spn.1 - 1 257 c.257G>A c.(256-258)AGG>AAG p.R86K NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GGTCTTTTCCCTGGTAACAAT 0.378 NA 18 131 0 0 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221277 56221277 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56221277C>T uc001shx.1 - 2 1370 c.1166G>A c.(1165-1167)CGG>CAG p.R389Q DNAJC14_uc001shu.1_Missense_Mutation_p.R389Q|DNAJC14_uc009zob.1_Missense_Mutation_p.R389Q|DNAJC14_uc001shy.1_Missense_Mutation_p.R389Q NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 389 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 TCTTACCAGCCGCTGCCATGG 0.547 NA 7 157 0 0 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814387 56814387 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56814387C>T uc001slf.2 - 26 3362 c.3194G>A c.(3193-3195)CGC>CAC p.R1065H NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 1065 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CCCTAGCTTGCGCAACAGCTG 0.428 NA 11 148 0 0 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814831 56814831 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56814831C>T uc001slf.2 - 24 3124 c.2956G>A c.(2956-2958)GAA>AAA p.E986K NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 986 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CCCCCTTCTTCTTCCTCTTCG 0.478 NA 13 236 0 0 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815188 56815188 + Nonsense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56815188C>A uc001slf.2 - 23 2983 c.2815G>T c.(2815-2817)GAG>TAG p.E939* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 939 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 TCCCGCCGCTCAGCCACCAGC 0.512 NA 11 205 4.38e-07 5.03e-07 1 0 PIP4K2C 79837 broad.mit.edu 37 12 57992919 57992919 + Silent SNP C C T rs147041101 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:57992919C>T uc001sou.2 + 5 716 c.585C>T c.(583-585)AAC>AAT p.N195N PIP4K2C_uc001sot.2_Silent_p.N195N|PIP4K2C_uc010srs.1_Silent_p.N177N|PIP4K2C_uc010srt.1_Silent_p.N147N NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 195 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) GTGTGGACAACGAAGACAGCT 0.512 NA 14 138 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83251023 83251023 + Silent SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:83251023C>A uc001szt.2 + 2 750 c.318C>A c.(316-318)TCC>TCA p.S106S TMTC2_uc001szr.1_Silent_p.S106S|TMTC2_uc001szs.1_Silent_p.S106S|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 106 endoplasmic reticulum|integral to membrane binding ovary(2) 2 CAAGCTTCTCCAAGATCCTCC 0.522 NA 16 141 2.63e-14 3.16e-14 1 0 GCN1L1 10985 broad.mit.edu 37 12 120597955 120597955 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:120597955C>T uc001txo.2 - 23 2554 c.2541G>A c.(2539-2541)CGG>CGA p.R847R NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 847 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTCCTGCAGCCGCCTCCGGA 0.612 NA 4 86 0 0 0 0 SETDB2 83852 broad.mit.edu 37 13 50054403 50054403 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:50054403C>T uc001vcz.2 + 8 1860 c.954C>T c.(952-954)TCC>TCT p.S318S SETDB2_uc010adg.2_Silent_p.S294S|SETDB2_uc001vcy.3_Silent_p.S306S|SETDB2_uc010adh.2_Silent_p.S306S|SETDB2_uc001vda.2_Silent_p.S306S NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 318 Pre-SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CCAAAACTTCCCCCTTGTCAA 0.408 NA 23 270 0 0 0 0 ATP4B 496 broad.mit.edu 37 13 114307336 114307336 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:114307336T>C uc001vtz.2 - 4 449 c.407A>G c.(406-408)TAC>TGC p.Y136C ATP4B_uc010agy.1_Missense_Mutation_p.Y136C NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 136 Extracellular (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) CTGGAAGAAGTACTGCTCGGA 0.617 NA 5 96 0 0 0 0 C14orf118 55668 broad.mit.edu 37 14 76644359 76644359 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:76644359C>G uc001xsh.2 + 7 1167 c.1081C>G c.(1081-1083)CCT>GCT p.P361A C14orf118_uc001xsi.2_Intron|C14orf118_uc001xsl.2_Intron NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 361 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) TTCTGATTTTCCTCACATTTC 0.338 NA 3 125 0 0 0 0 ANGEL1 23357 broad.mit.edu 37 14 77269772 77269772 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:77269772G>A uc001xsv.2 - 7 1673 c.1560C>T c.(1558-1560)ATC>ATT p.I520I ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 520 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCTGACAAGCGATGCTGCAGA 0.473 NA 5 91 0 0 0 0 TMEM63C 57156 broad.mit.edu 37 14 77685844 77685844 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:77685844G>A uc001xtf.2 + 4 366 c.154G>A c.(154-156)GTC>ATC p.V52I TMEM63C_uc010asq.1_Missense_Mutation_p.V52I NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 52 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCTGTAGCTCGTCCTTGTGGT 0.592 NA 17 155 0 0 0 0 AVEN 57099 broad.mit.edu 37 15 34163164 34163164 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:34163164C>T uc001zhj.2 - 4 640 c.584G>A c.(583-585)CGA>CAA p.R195Q NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN cell death regulator aven 195 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding kidney(1) 1 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) AACGTTGAGTCGGAGGCAGAG 0.438 NA 5 46 0 0 0 0 HERC1 8925 broad.mit.edu 37 15 64067311 64067311 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:64067311G>A uc002amp.2 - 2 660 c.512C>T c.(511-513)GCG>GTG p.A171V HERC1_uc010uil.1_Missense_Mutation_p.A171V|HERC1_uc010bgt.1_Missense_Mutation_p.A171V|HERC1_uc002amq.1_Missense_Mutation_p.A171V NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 171 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TCTTAGAAGCGCAAATAATAA 0.448 NA 5 387 0 0 0 0 ISLR2 57611 broad.mit.edu 37 15 74427051 74427051 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:74427051C>T uc002axd.2 + 4 2725 c.1956C>T c.(1954-1956)CTC>CTT p.L652L ISLR2_uc002axe.2_Silent_p.L652L|ISLR2_uc010bjg.2_Silent_p.L652L|ISLR2_uc010bjf.2_Silent_p.L652L NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 652 Cytoplasmic (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CTTCGTACCTCGAGTCCGAGA 0.677 NA OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 101 0 0 0 0 PTPN9 5780 broad.mit.edu 37 15 75815511 75815511 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:75815511G>C uc002bal.2 - 4 881 c.373C>G c.(373-375)CAT>GAT p.H125D NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 125 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 AGTACCACATGTTGGACTGAC 0.428 NA 5 62 0 0 0 0 AKAP13 11214 broad.mit.edu 37 15 86122930 86122930 + Missense_Mutation SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:86122930A>T uc002blv.1 + 7 1801 c.1631A>T c.(1630-1632)GAT>GTT p.D544V AKAP13_uc002blt.1_Missense_Mutation_p.D544V|AKAP13_uc002blu.1_Missense_Mutation_p.D544V NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 544 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 AGTTCCCTGGATGGTAACAAA 0.468 NA 15 126 0 0 0 0 FANCI 55215 broad.mit.edu 37 15 89836226 89836226 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:89836226C>G uc010bnp.1 + 22 2313 c.2223C>G c.(2221-2223)ATC>ATG p.I741M FANCI_uc002bnm.1_Missense_Mutation_p.I741M|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.I562M|FANCI_uc002bnq.1_Missense_Mutation_p.I154M NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 741 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) AAAATAATATCTGTGCTTTTC 0.313 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 15 139 0 0 0 0 C16orf91 283951 broad.mit.edu 37 16 1478469 1478469 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:1478469G>A uc010uvd.1 - 2 182 c.182C>T c.(181-183)GCG>GTG p.A61V NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN hypothetical protein LOC283951 Error:Variant_position_missing_in_Q4G0I0_after_alignment integral to membrane 0 GTCCACCTGCGCCCGAAGCCT 0.672 NA 4 27 0 0 0 0 UMOD 7369 broad.mit.edu 37 16 20352551 20352551 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:20352551G>A uc002dgz.2 - 7 1568 c.1439C>T c.(1438-1440)TCC>TTC p.S480F UMOD_uc002dha.2_Missense_Mutation_p.S480F|UMOD_uc002dhb.2_Missense_Mutation_p.S513F NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 480 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 AGCCTCAGTGGACAGTGTCAC 0.587 NA 7 65 0 0 0 0 ELMO3 79767 broad.mit.edu 37 16 67234439 67234439 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:67234439C>T uc002esa.2 + 6 701 c.658C>T c.(658-660)CCC>TCC p.P220S ELMO3_uc002esb.2_Missense_Mutation_p.P203S|ELMO3_uc002esc.2_Missense_Mutation_p.P54S NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 167 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TCTGAGCATCCCCTTTGTGAG 0.647 NA 14 109 0 0 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67854801 67854801 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:67854801G>C uc002euj.2 + 3 439 c.45G>C c.(43-45)CAG>CAC p.Q15H TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.3_Intron|TSNAXIP1_uc010vka.1_Missense_Mutation_p.Q69H|TSNAXIP1_uc010vkb.1_Intron|TSNAXIP1_uc002eug.3_Intron|TSNAXIP1_uc002euh.3_Intron|TSNAXIP1_uc002eui.3_Intron|TSNAXIP1_uc002euk.2_5'Flank NM_018430 NP_060900 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 15 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm 0 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CCAGTGGCCAGACCATTTTGC 0.577 NA 41 489 0 0 0 0 DULLARD 23399 broad.mit.edu 37 17 7150389 7150389 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:7150389G>C uc002gfd.2 - 3 662 c.282C>G c.(280-282)ATC>ATG p.I94M DULLARD_uc002gfe.2_Missense_Mutation_p.I94M|DULLARD_uc002gff.2_Missense_Mutation_p.I94M|DULLARD_uc002gfc.2_RNA NM_001143775 NP_001137247 O95476 CNEP1_HUMAN dullard homolog 94 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity 0 ACACCTTGAGGATGAAGTCAG 0.562 NA 41 159 0 0 0 0 RICH2 9912 broad.mit.edu 37 17 12812249 12812249 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:12812249G>C uc002gnr.3 + 4 561 c.234G>C c.(232-234)CTG>CTC p.L78L RICH2_uc010vvk.1_Silent_p.L78L|RICH2_uc010vvl.1_Silent_p.L78L|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Silent_p.L78L|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 78 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CTCAGTGTCTGATGGAGGGGT 0.428 NA 21 337 0 0 0 0 SUZ12 23512 broad.mit.edu 37 17 30321584 30321584 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:30321584A>G uc002hgs.2 + 13 1661 c.1439A>G c.(1438-1440)TAT>TGT p.Y480C SUZ12_uc002hgt.2_Missense_Mutation_p.Y457C NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 480 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TTGTTGCAGTATCATCCAAAA 0.323 NA T JAZF1 endometrial stromal tumours 7 75 0 0 0 0 HOXB3 3213 broad.mit.edu 37 17 46627999 46627999 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:46627999C>T uc002inn.2 - 2 1393 c.993G>A c.(991-993)CCG>CCA p.P331P HOXB3_uc010wlm.1_Silent_p.P258P|HOXB3_uc010dbf.2_Silent_p.P331P|HOXB3_uc010dbg.2_Silent_p.P331P|HOXB3_uc002ino.2_Silent_p.P331P|HOXB3_uc010wlk.1_Silent_p.P199P|HOXB3_uc010wll.1_Silent_p.P258P NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 331 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAGGACGTGCGGCTCATACT 0.716 NA OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 70 0 0 0 0 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:56582201C>T uc002iwj.2 - 12 1348 c.1238G>A c.(1237-1239)CGC>CAC p.R413H NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532 NA 4 215 0 0 0 0 PTRH2 51651 broad.mit.edu 37 17 57775074 57775074 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:57775074G>A uc002ixt.2 - 2 391 c.266C>T c.(265-267)GCT>GTT p.A89V PTRH2_uc002ixs.2_RNA NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Bcl-2 inhibitor of transcription precursor 89 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGAAACAGCAGCATGAGAGCA 0.478 NA 35 251 0 0 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688860 65688860 + Silent SNP C C T rs146560406 by1000genomes TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:65688860C>T uc002jgc.2 + 9 1202 c.855C>T c.(853-855)CCC>CCT p.P285P PITPNC1_uc002jgb.2_3'UTR NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 285 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CAGACGCACCCGAATTTCTGT 0.557 NA 7 170 0 0 0 0 ABCA7 10347 broad.mit.edu 37 19 1043251 1043251 + Splice_Site SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:1043251G>A uc002lqw.3 + 8 1021 c.790_splice c.e8+1 p.S264_splice ABCA7_uc010dsb.1_Splice_Site_p.S126_splice NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCTGAGTGAGTGACTG 0.657 NA 17 168 0 0 0 0 MPND 84954 broad.mit.edu 37 19 4345805 4345805 + Missense_Mutation SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:4345805A>T uc002mae.2 + 3 425 c.358A>T c.(358-360)ACC>TCC p.T120S MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.T120S|MPND_uc002maf.2_Missense_Mutation_p.T120S|MPND_uc002mah.2_Missense_Mutation_p.T8S|MPND_uc002mai.2_Missense_Mutation_p.T8S NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 120 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GACCGGGCAGACCTTCAACTC 0.622 NA 9 86 0 0 0 0 MPND 84954 broad.mit.edu 37 19 4357346 4357346 + Missense_Mutation SNP G G A rs61730129 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:4357346G>A uc002mae.2 + 9 1160 c.1093G>A c.(1093-1095)GCA>ACA p.A365T MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.A315T|MPND_uc002maf.2_Missense_Mutation_p.A365T|MPND_uc002mah.2_Missense_Mutation_p.A253T|MPND_uc002mai.2_Missense_Mutation_p.A224T NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 365 MPN. peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGACATCGACGCACAGATGGA 0.672 NA 9 41 0 0 0 0 RFX1 5989 broad.mit.edu 37 19 14079491 14079491 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:14079491G>T uc002mxv.2 - 12 1890 c.1618C>A c.(1618-1620)CTC>ATC p.L540I NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 540 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) ATGGGCTTGAGCCTGGAGTAG 0.692 NA 6 52 2.77e-08 3.22e-08 1 0 MED26 9441 broad.mit.edu 37 19 16687957 16687957 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:16687957C>T uc002nen.1 - 3 945 c.684G>A c.(682-684)CCG>CCA p.P228P MED26_uc002nee.2_RNA NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 228 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 AGCTGGTGTGCGGTCGCACGG 0.682 NA 8 113 0 0 0 0 LSR 51599 broad.mit.edu 37 19 35758624 35758624 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:35758624G>A uc002nyl.2 + 9 2124 c.1901G>A c.(1900-1902)CGC>CAC p.R634H LSR_uc002nym.2_Missense_Mutation_p.R615H|LSR_uc002nyn.2_Missense_Mutation_p.R566H|LSR_uc002nyo.2_Missense_Mutation_p.R614H|LSR_uc010xsr.1_Missense_Mutation_p.R526H|LSR_uc002nyp.2_Missense_Mutation_p.R576H|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 634 Cytoplasmic (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCCCGAGAGCGCAGGCTCAAG 0.567 NA 4 151 0 0 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964120 39964120 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:39964120G>C uc002olo.3 + 25 2630 c.2451G>C c.(2449-2451)CAG>CAC p.Q817H SUPT5H_uc002olp.3_Missense_Mutation_p.Q817H|SUPT5H_uc002olq.3_Missense_Mutation_p.Q813H|SUPT5H_uc002oln.3_Missense_Mutation_p.Q817H|SUPT5H_uc002olr.3_Missense_Mutation_p.Q817H|SUPT5H_uc002ols.1_Missense_Mutation_p.Q440H|SUPT5H_uc010egp.1_3'UTR NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 817 CTR1-9.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCCTGCCCAGAGTGGGGCCT 0.632 NA 13 107 0 0 0 0 RPS19 6223 broad.mit.edu 37 19 42373230 42373230 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:42373230G>A uc002ort.2 + 4 674 c.302G>A c.(301-303)CGC>CAC p.R101H NM_001022 NP_001013 P39019 RS19_HUMAN ribosomal protein S19 101 R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit). endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 AGTGTGGCCCGCCGGGTCCTC 0.617 NA Diamond-Blackfan_Anemia 6 59 0 0 0 0 ZNF574 64763 broad.mit.edu 37 19 42583864 42583864 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:42583864G>T uc002osm.3 + 2 1275 c.1106G>T c.(1105-1107)TGT>TTT p.C369F ZNF574_uc002osk.3_Missense_Mutation_p.C459F NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 369 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) TGTGTAGACTGTGGCCTGGCC 0.592 NA 8 96 0.000274275 0.000302406 1 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:43699348C>T uc002ovy.2 - 4 889 c.787G>A c.(787-789)GAA>AAA p.E263K PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.E170K|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453 NA 39 416 0 0 0 0 ERCC2 2068 broad.mit.edu 37 19 45860923 45860923 + Silent SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:45860923T>C uc002pbj.2 - 13 1319 c.1272A>G c.(1270-1272)AGA>AGG p.R424R ERCC2_uc002pbh.2_5'UTR|ERCC2_uc002pbi.2_Silent_p.R117R|ERCC2_uc010ejz.2_Silent_p.R346R|ERCC2_uc002pbk.2_Silent_p.R400R NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 424 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGTCGGGGTTCTGTCGTCAA 0.637 NA Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 8 65 0 0 0 0 ZC3H4 23211 broad.mit.edu 37 19 47588318 47588318 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:47588318T>C uc002pga.3 - 8 1140 c.1102A>G c.(1102-1104)ATG>GTG p.M368V ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 368 Gly-rich. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CTCACGCCCATGTCCTCGTCA 0.532 NA 56 331 0 0 0 0 RASIP1 54922 broad.mit.edu 37 19 49224087 49224087 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:49224087G>A uc002pki.2 - 12 3057 c.2860C>T c.(2860-2862)CGC>TGC p.R954C MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.R215C NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 954 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGCCCATGGCGATAATTGGCT 0.612 NA 12 246 0 0 0 0 ZNF473 25888 broad.mit.edu 37 19 50549541 50549541 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:50549541C>G uc002prn.2 + 5 2078 c.1841C>G c.(1840-1842)TCT>TGT p.S614C ZNF473_uc002prm.2_Missense_Mutation_p.S614C|ZNF473_uc010ybo.1_Missense_Mutation_p.S602C NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 614 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGAATCCACTCTAGAGTGAGG 0.488 NA 7 74 0 0 0 0 ZFP28 140612 broad.mit.edu 37 19 57065936 57065936 + Silent SNP C C T rs61734808 byFrequency TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:57065936C>T uc002qnj.2 + 8 1853 c.1782C>T c.(1780-1782)TGC>TGT p.C594C uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 594 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GTAAAGAGTGCGGAAAAGCTT 0.413 NA 4 238 0 0 0 0 ZNF606 80095 broad.mit.edu 37 19 58489924 58489924 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58489924G>A uc002qqw.2 - 7 2742 c.2124C>T c.(2122-2124)TAC>TAT p.Y708Y ZNF606_uc010yhp.1_Silent_p.Y618Y NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 708 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CATTACACCTGTATGGTTTCT 0.393 NA 23 147 0 0 0 0 ZNF329 79673 broad.mit.edu 37 19 58639690 58639690 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58639690G>A uc002qrn.2 - 4 1418 c.1181C>T c.(1180-1182)TCT>TTT p.S394F ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTTCTCCCCAGAATGGATCTT 0.468 NA 18 177 0 0 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849700 58849700 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58849700G>C uc002qsc.2 + 3 631 c.484G>C c.(484-486)GAG>CAG p.E162Q ZSCAN22_uc010yhz.1_Silent_p.L156L NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 162 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AAATGTCACTGAGACCCTCAT 0.567 NA 13 141 0 0 0 0 ADCY3 109 broad.mit.edu 37 2 25062774 25062774 + Silent SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:25062774T>A uc002rfs.3 - 6 1522 c.1323A>T c.(1321-1323)GTA>GTT p.V441V ADCY3_uc002rfr.3_Silent_p.V52V|ADCY3_uc010ykm.1_Silent_p.V441V NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 441 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TCTTGTTGGCTACAGTGACAT 0.672 NA 26 152 0 0 0 0 EMILIN1 11117 broad.mit.edu 37 2 27306220 27306220 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:27306220G>A uc002rii.3 + 4 2209 c.1781G>A c.(1780-1782)CGC>CAC p.R594H EMILIN1_uc002rik.3_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 594 Potential. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACTAGGCCGCCTTCGGGAT 0.697 NA 19 97 0 0 0 0 CNGA3 1261 broad.mit.edu 37 2 99012566 99012566 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:99012566C>T uc002syt.2 + 8 1350 c.933C>T c.(931-933)CTC>CTT p.L311L CNGA3_uc002syu.2_Silent_p.L293L|CNGA3_uc010fij.2_Silent_p.L315L NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 311 Helical; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 TGTACATTCTCATCATCATCC 0.458 NA 17 175 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100623856 100623856 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:100623856C>G uc002tag.2 - 5 477 c.241G>C c.(241-243)GAC>CAC p.D81H AFF3_uc002taf.2_Missense_Mutation_p.D106H|AFF3_uc010fiq.1_Missense_Mutation_p.D81H|AFF3_uc010yvr.1_Missense_Mutation_p.D235H|AFF3_uc002tah.1_Missense_Mutation_p.D106H|AFF3_uc010fir.1_Missense_Mutation_p.D158H|AFF3_uc002tai.2_Missense_Mutation_p.D3H NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 81 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GTTAAAAAGTCTTTCATTTCA 0.418 NA 32 161 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167055509 167055509 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:167055509G>C uc010fpl.2 - 27 5948 c.5607C>G c.(5605-5607)ATC>ATG p.I1869M uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1880 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GTGTGGTTGTGATGGGTTCAT 0.428 NA 29 177 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170042510 170042510 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:170042510G>T uc002ues.2 - 50 9561 c.9348C>A c.(9346-9348)GAC>GAA p.D3116E NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3116 EGF-like 11.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGATTGAAGGGTCATGGCATT 0.418 NA 19 76 2.39e-15 2.89e-15 1 0 FASTKD1 79675 broad.mit.edu 37 2 170403114 170403114 + Missense_Mutation SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:170403114T>A uc002uev.3 - 8 1703 c.1315A>T c.(1315-1317)ATT>TTT p.I439F FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.I425F NM_024622 NP_078898 Q53R41 FAKD1_HUMAN FAST kinase domains 1 439 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(4) 4 ACGGCTTCAATTCGGGATATC 0.408 NA 13 105 0 0 0 0 ANKAR 150709 broad.mit.edu 37 2 190608094 190608094 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:190608094C>G uc002uqw.1 + 20 3691 c.3691C>G c.(3691-3693)CAG>GAG p.Q1231E ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Intron NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1302 integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TAAACCTAATCAGTTCATTCG 0.368 NA 12 78 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209138378 209138378 + Silent SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:209138378G>T uc002vcz.2 + 3 401 c.243G>T c.(241-243)TCG>TCT p.S81S PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.S81S|PIKFYVE_uc002vcv.2_Silent_p.S81S|PIKFYVE_uc002vcw.2_Silent_p.S81S|PIKFYVE_uc002vcx.2_Silent_p.S81S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 81 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 AGCTCCCTTCGAGGACACAGT 0.493 NA 10 122 0.000442599 0.000486608 1 0 VIL1 7429 broad.mit.edu 37 2 219314035 219314035 + Silent SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:219314035C>G uc002via.2 + 20 2525 c.2460C>G c.(2458-2460)CTC>CTG p.L820L VIL1_uc010zke.1_Silent_p.L509L|VIL1_uc002vib.2_Silent_p.L820L NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 820 Headpiece.|HP.|LPA/PIP2-binding site 3. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AACAAAACCTCAAGAAAGAAA 0.448 NA 34 245 0 0 0 0 WDFY1 57590 broad.mit.edu 37 2 224809872 224809872 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:224809872C>T uc002vnq.2 - 1 181 c.130G>A c.(130-132)GAG>AAG p.E44K NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 44 WD 1. cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TACCTGTCCTCGCTGGCCGTG 0.751 NA 5 26 0 0 0 0 MKKS 8195 broad.mit.edu 37 20 10393770 10393770 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393770G>C uc002wnt.1 - 3 1280 c.393C>G c.(391-393)CTC>CTG p.L131L MKKS_uc002wnu.1_Silent_p.L131L|MKKS_uc010zrd.1_Intron NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 131 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 TCTCAGACTTGAGATAACTGA 0.398 NA Bardet-Biedl_syndrome 5 87 0 0 0 0 MKKS 8195 broad.mit.edu 37 20 10393844 10393844 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393844G>C uc002wnt.1 - 3 1206 c.319C>G c.(319-321)CAG>GAG p.Q107E MKKS_uc002wnu.1_Missense_Mutation_p.Q107E|MKKS_uc010zrd.1_Intron NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 107 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 CCTAATCTCTGAACATTTTCA 0.393 NA Bardet-Biedl_syndrome 10 90 0 0 0 0 MKKS 8195 broad.mit.edu 37 20 10393971 10393971 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393971G>C uc002wnt.1 - 3 1079 c.192C>G c.(190-192)CTC>CTG p.L64L MKKS_uc002wnu.1_Silent_p.L64L|MKKS_uc010zrd.1_Intron NM_018848 NP_061336 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome protein 64 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding 0 AAAGGTGACTGAGCAGAGCTG 0.468 NA Bardet-Biedl_syndrome 10 112 0 0 0 0 L3MBTL 26013 broad.mit.edu 37 20 42144745 42144745 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:42144745G>C uc010zwh.1 + 7 770 c.724G>C c.(724-726)GAA>CAA p.E242Q L3MBTL_uc010ggk.1_Missense_Mutation_p.E174Q|L3MBTL_uc002xkl.2_Missense_Mutation_p.E174Q|L3MBTL_uc002xkm.2_Missense_Mutation_p.E174Q|L3MBTL_uc010ggl.2_Missense_Mutation_p.E174Q NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 174 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GAAGCAAGAAGAAGGAAAGGA 0.552 NA 5 73 0 0 0 0 HNF4A 3172 broad.mit.edu 37 20 43030122 43030122 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:43030122G>A uc002xma.2 + 1 199 c.110G>A c.(109-111)GGC>GAC p.G37D HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Missense_Mutation_p.G37D|HNF4A_uc002xlz.2_Missense_Mutation_p.G37D|HNF4A_uc010ggq.2_5'UTR NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 37 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TTGACGATGGGCAATGGTAGG 0.587 NA 10 96 0 0 0 0 SLPI 6590 broad.mit.edu 37 20 43882277 43882277 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:43882277C>T uc002xnm.1 - 2 205 c.183G>A c.(181-183)AAG>AAA p.K61K NM_003064 NP_003055 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 61 Trypsin inhibitory domain.|WAP 1. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GACAACATCTCTTCTTCCCTG 0.517 NA 5 74 0 0 0 0 PES1 23481 broad.mit.edu 37 22 30985250 30985250 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr22:30985250C>T uc003aij.1 - 2 106 c.32G>A c.(31-33)CGA>CAA p.R11Q PES1_uc003aik.1_Missense_Mutation_p.R11Q|PES1_uc003ail.1_Missense_Mutation_p.R11Q|PES1_uc003aim.1_Missense_Mutation_p.R11Q|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 11 Sufficient for nucleolar localization.|Required for 28S ribosomal RNA processing. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GGCCGAGCCTCGTTCATACTG 0.498 NA 4 49 0 0 0 0 MYH9 4627 broad.mit.edu 37 22 36712581 36712581 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr22:36712581G>A uc003apg.2 - 12 1592 c.1361C>T c.(1360-1362)GCC>GTC p.A454V MYH9_uc003aph.1_Missense_Mutation_p.A318V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 454 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTCGAAGCCGGCAATGTCCAG 0.562 NA T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 4 236 0 0 0 0 GRIP2 80852 broad.mit.edu 37 3 14562009 14562009 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:14562009C>T uc011avi.1 - 9 1039 c.1039G>A c.(1039-1041)GAA>AAA p.E347K GRIP2_uc011avh.1_5'UTR NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 250 PDZ 3. synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 TTGACTATTTCCACCATCAAG 0.552 NA 4 38 0 0 0 0 THRB 7068 broad.mit.edu 37 3 24174936 24174936 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:24174936T>G uc003ccx.3 - 9 1105 c.756A>C c.(754-756)CAA>CAC p.Q252H THRB_uc010hfe.2_Missense_Mutation_p.Q252H|THRB_uc003ccy.3_Missense_Mutation_p.Q252H|THRB_uc003ccz.3_Missense_Mutation_p.Q247H NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 252 Ligand-binding.|Interaction with NR2F6. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) CTATTGGTGCTTGTCCAATGT 0.393 NA 5 82 0 0 0 0 C3orf23 285343 broad.mit.edu 37 3 44437946 44437946 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:44437946C>T uc010him.2 + 7 995 c.750C>T c.(748-750)AGC>AGT p.S250S C3orf23_uc003cnd.3_Silent_p.S250S|C3orf23_uc003cne.3_Silent_p.S106S NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 250 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) ATAGTTTAAGCCGCTTAGCAC 0.438 NA 3 40 0 0 0 0 ZNF660 285349 broad.mit.edu 37 3 44635868 44635868 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:44635868G>A uc003cnl.1 + 3 516 c.183G>A c.(181-183)CAG>CAA p.Q61Q NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 61 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCTTTAGTCAGAGTGCAAACC 0.438 NA 6 63 0 0 0 0 NME6 10201 broad.mit.edu 37 3 48336722 48336722 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:48336722C>T uc003csp.3 - 5 288 c.237G>A c.(235-237)GGG>GGA p.G79G NME6_uc003cso.2_Silent_p.G87G|NME6_uc011bbh.1_Missense_Mutation_p.G66D|NME6_uc010hju.2_5'UTR|NME6_uc011bbi.1_Intron NM_005793 NP_005784 O75414 NDK6_HUMAN nucleoside diphosphate kinase type 6 79 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CTCGGATTGGCCCGCTGTGAA 0.552 NA 3 37 0 0 0 0 PBRM1 55193 broad.mit.edu 37 3 52643617 52643617 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:52643617C>T uc003des.2 - 16 2291 c.2279G>A c.(2278-2280)CGC>CAC p.R760H PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R760H|PBRM1_uc003der.2_Missense_Mutation_p.R728H|PBRM1_uc003det.2_Missense_Mutation_p.R775H|PBRM1_uc003deu.2_Missense_Mutation_p.R775H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R760H|PBRM1_uc010hmk.1_Missense_Mutation_p.R760H|PBRM1_uc003dey.2_Missense_Mutation_p.R760H|PBRM1_uc003dez.1_Missense_Mutation_p.R760H|PBRM1_uc003dfb.1_Missense_Mutation_p.R673H|PBRM1_uc003dfa.1_Missense_Mutation_p.R106H|PBRM1_uc003dfc.2_Missense_Mutation_p.R127H NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 760 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAGGTCTCTGCGTGTTTCAAG 0.423 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 19 124 0 0 0 0 MYH15 22989 broad.mit.edu 37 3 108147437 108147437 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:108147437G>A uc003dxa.1 - 28 3721 c.3664C>T c.(3664-3666)CTA>TTA p.L1222L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1222 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ACCTGCTGTAGATTTTCTACC 0.488 NA 16 213 0 0 0 0 SLC9A10 285335 broad.mit.edu 37 3 111981806 111981806 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:111981806C>T uc003dyu.2 - 10 1384 c.1162G>A c.(1162-1164)GAT>AAT p.D388N SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.D340N NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 388 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 AAATAAAGATCAGAGTAGGCA 0.333 NA 7 68 0 0 0 0 RHO 6010 broad.mit.edu 37 3 129251462 129251462 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:129251462C>G uc003emt.2 + 4 878 c.783C>G c.(781-783)TTC>TTG p.F261L NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 261 Helical; Name=6; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCATCGCTTTCCTGATCTGCT 0.592 NA 7 109 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151164902 151164903 + Missense_Mutation DNP GT GT TC TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:151164902_151164903GT>TC uc011bod.1 - 4 2866_2867 c.2866_2867AC>GA c.(2866-2868)ACA>GAA p.T956E NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 956 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTTACAGATGTCTGATGACTA 0.396 NA 112 260 0 0 0 0 GOLIM4 27333 broad.mit.edu 37 3 167742808 167742808 + Nonsense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:167742808G>A uc003ffe.2 - 13 2043 c.1699C>T c.(1699-1701)CAA>TAA p.Q567* GOLIM4_uc011bpe.1_Nonsense_Mutation_p.Q568*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.Q540*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.Q539* NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 567 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TCTCTCACTTGCTCGGCTTCT 0.373 NA 29 269 0 0 0 0 PSMD2 5708 broad.mit.edu 37 3 184023708 184023708 + Silent SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:184023708C>G uc003fnn.1 + 13 1725 c.1692C>G c.(1690-1692)CTC>CTG p.L564L PSMD2_uc011brj.1_Silent_p.L405L|PSMD2_uc011brk.1_Silent_p.L434L NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 564 PC 5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GACTGGGTCTCAACCACCTGG 0.493 NA OREG0015947 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 132 0 0 0 0 WDR53 348793 broad.mit.edu 37 3 196281368 196281368 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:196281368T>C uc003fwt.2 - 4 1262 c.791A>G c.(790-792)AAG>AGG p.K264R NM_182627 NP_872433 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 264 WD 5. breast(1)|skin(1) 2 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CAACGTGATCTTCCCATCATT 0.468 NA 19 220 0 0 0 0 UGT2B10 7365 broad.mit.edu 37 4 69884067 69884067 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:69884067C>G uc011cao.1 - 5 782 c.646G>C c.(646-648)GAC>CAC p.D216H UGT2B10_uc011can.1_Missense_Mutation_p.D132H P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 253 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 AGCCATATGTCAGCTTTTCCC 0.363 NA 33 256 0 0 0 0 CDS1 1040 broad.mit.edu 37 4 85538789 85538789 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:85538789C>T uc011ccv.1 + 4 913 c.415C>T c.(415-417)CTA>TTA p.L139L NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 139 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TTCTTATGATCTACCATGGTT 0.338 NA 7 113 0 0 0 0 ADH5 128 broad.mit.edu 37 4 100003182 100003182 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:100003182T>C uc003hui.2 - 3 280 c.200A>G c.(199-201)CAT>CGT p.H67R ADH5_uc003huk.1_Missense_Mutation_p.H67R|ADH5_uc003huj.2_5'UTR NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit 67 Zinc 1; catalytic. ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) AGCACCTTCATGTCCCAAGAT 0.453 NA 15 74 0 0 0 0 TMEM184C 55751 broad.mit.edu 37 4 148539207 148539207 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:148539207G>A uc003ila.3 + 1 669 c.100G>A c.(100-102)GTG>ATG p.V34M NM_018241 NP_060711 Q9NVA4 T184C_HUMAN transmembrane protein 184C 34 Helical; (Potential). integral to membrane 0 TCCCCTATGCGTGTGGGAATT 0.502 NA OREG0016353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 278 0 0 0 0 CLCN3 1182 broad.mit.edu 37 4 170628124 170628124 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:170628124G>T uc003isi.2 + 11 2365 c.1856G>T c.(1855-1857)TGG>TTG p.W619L CLCN3_uc003ish.2_Missense_Mutation_p.W619L|CLCN3_uc011cjz.1_Missense_Mutation_p.W602L|CLCN3_uc011cka.1_Missense_Mutation_p.W592L|CLCN3_uc003isj.1_Missense_Mutation_p.W592L NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 619 Helical; (By similarity). endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) ACCAGTAAATGGGTTGGAGAT 0.438 NA 6 130 1.13e-05 1.28e-05 1 0 SPCS3 60559 broad.mit.edu 37 4 177249416 177249416 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:177249416G>T uc003iur.3 + 5 616 c.478G>T c.(478-480)GTG>TTG p.V160L NM_021928 NP_068747 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 160 Lumenal (Potential). energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(1) 1 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) TCTACCTCTTGTGACAGGATC 0.348 NA 13 90 1.58e-08 1.85e-08 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:41009477C>T uc003jmj.3 - 32 3815 c.3325G>A c.(3325-3327)GAA>AAA p.E1109K HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1109 binding ovary(6)|central_nervous_system(2) 8 GCTGGCTTTTCAGCCAGCGCC 0.498 NA 11 114 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63257049 63257049 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:63257049G>A uc011cqt.1 - 1 498 c.498C>T c.(496-498)CTC>CTT p.L166L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 166 Helical; Name=4; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGATAGAGATGAGGAAGCCAA 0.607 NA 8 99 0 0 0 0 EBF1 1879 broad.mit.edu 37 5 158223429 158223429 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:158223429G>A uc010jip.2 - 9 1135 c.833C>T c.(832-834)GCG>GTG p.A278V EBF1_uc011ddw.1_Missense_Mutation_p.A146V|EBF1_uc011ddx.1_Missense_Mutation_p.A279V|EBF1_uc003lxl.3_Missense_Mutation_p.A247V NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 278 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATCACAGTCGCACCTCCCGT 0.463 NA T HMGA2 lipoma 8 89 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180048861 180048861 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:180048861C>A uc003mma.3 - 13 1780 c.1701G>T c.(1699-1701)GAG>GAT p.E567D FLT4_uc003mlz.3_Missense_Mutation_p.E567D|FLT4_uc003mmb.1_Missense_Mutation_p.E100D|FLT4_uc011dgy.1_Missense_Mutation_p.E567D NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 567 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCTCTAGTAGCTCCTCGGATG 0.622 NA Congenital_Hereditary_Lymphedema 11 97 0.00010058 0.000112498 1 0 DST 667 broad.mit.edu 37 6 56504792 56504792 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56504792G>T uc003pdf.2 - 18 2483 c.2455C>A c.(2455-2457)CAT>AAT p.H819N DST_uc003pcz.3_Missense_Mutation_p.H641N|DST_uc011dxj.1_Missense_Mutation_p.H670N|DST_uc011dxk.1_Missense_Mutation_p.H681N|DST_uc011dxl.1_Missense_Mutation_p.H670N|DST_uc003pcy.3_Missense_Mutation_p.H315N|DST_uc003pdb.2_Missense_Mutation_p.H315N|DST_uc003pdc.3_Missense_Mutation_p.H315N|DST_uc003pdd.3_Missense_Mutation_p.H315N|DST_uc003pde.2_Missense_Mutation_p.H757N NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 641 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACATTTTTATGATTTTCTAAA 0.308 NA 7 116 0.000157383 0.000175021 1 0 DST 667 broad.mit.edu 37 6 56505116 56505116 + Nonsense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505116G>C uc003pdf.2 - 17 2244 c.2216C>G c.(2215-2217)TCA>TGA p.S739* DST_uc003pcz.3_Nonsense_Mutation_p.S561*|DST_uc011dxj.1_Nonsense_Mutation_p.S590*|DST_uc011dxk.1_Nonsense_Mutation_p.S601*|DST_uc011dxl.1_Nonsense_Mutation_p.S590*|DST_uc003pcy.3_Nonsense_Mutation_p.S235*|DST_uc003pdb.2_Nonsense_Mutation_p.S235*|DST_uc003pdc.3_Nonsense_Mutation_p.S235*|DST_uc003pdd.3_Nonsense_Mutation_p.S235*|DST_uc003pde.2_Nonsense_Mutation_p.S677* NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 561 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACTAATCCTGATGGGAAACC 0.453 NA 9 140 0 0 0 0 DST 667 broad.mit.edu 37 6 56505121 56505121 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505121G>T uc003pdf.2 - 17 2239 c.2211C>A c.(2209-2211)TTC>TTA p.F737L DST_uc003pcz.3_Missense_Mutation_p.F559L|DST_uc011dxj.1_Missense_Mutation_p.F588L|DST_uc011dxk.1_Missense_Mutation_p.F599L|DST_uc011dxl.1_Missense_Mutation_p.F588L|DST_uc003pcy.3_Missense_Mutation_p.F233L|DST_uc003pdb.2_Missense_Mutation_p.F233L|DST_uc003pdc.3_Missense_Mutation_p.F233L|DST_uc003pdd.3_Missense_Mutation_p.F233L|DST_uc003pde.2_Missense_Mutation_p.F675L NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 559 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCCTGATGGGAAACCAGGTG 0.443 NA 11 141 2.62e-11 3.12e-11 1 0 DST 667 broad.mit.edu 37 6 56505218 56505218 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505218G>A uc003pdf.2 - 17 2142 c.2114C>T c.(2113-2115)ACA>ATA p.T705I DST_uc003pcz.3_Missense_Mutation_p.T527I|DST_uc011dxj.1_Missense_Mutation_p.T556I|DST_uc011dxk.1_Missense_Mutation_p.T567I|DST_uc011dxl.1_Missense_Mutation_p.T556I|DST_uc003pcy.3_Missense_Mutation_p.T201I|DST_uc003pdb.2_Missense_Mutation_p.T201I|DST_uc003pdc.3_Missense_Mutation_p.T201I|DST_uc003pdd.3_Missense_Mutation_p.T201I|DST_uc003pde.2_Missense_Mutation_p.T643I NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 527 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGGGAAGGTGTTAAACTCTG 0.478 NA 14 169 0 0 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949382 116949382 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:116949382G>C uc003pxe.2 + 3 1657 c.1512G>C c.(1510-1512)CAG>CAC p.Q504H RSPH4A_uc010kee.2_Missense_Mutation_p.Q504H NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 504 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 GATTTTATCAGTTTGGTGAAG 0.453 NA Kartagener_syndrome 12 136 0 0 0 0 SASH1 23328 broad.mit.edu 37 6 148865488 148865488 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:148865488A>G uc003qme.1 + 18 3357 c.2882A>G c.(2881-2883)CAC>CGC p.H961R SASH1_uc011eeb.1_Missense_Mutation_p.H722R|SASH1_uc003qmf.1_Missense_Mutation_p.H371R NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 961 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GAAGGAACACACCATCCCCTG 0.522 NA 8 133 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152469388 152469388 + Silent SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:152469388A>G uc010kiw.2 - 137 25370 c.24768T>C c.(24766-24768)AAT>AAC p.N8256N SYNE1_uc010kiv.2_Silent_p.N2780N|SYNE1_uc003qos.3_Silent_p.N2780N|SYNE1_uc003qot.3_Silent_p.N8185N|SYNE1_uc003qou.3_Silent_p.N8256N|SYNE1_uc003qop.3_Silent_p.N418N|SYNE1_uc011eez.1_Silent_p.N458N|SYNE1_uc003qoq.3_Silent_p.N458N|SYNE1_uc003qor.3_Silent_p.N1156N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8256 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGAGGGAGAGATTGGAGGAAG 0.632 NA HNSCC(10;0.0054) 6 85 0 0 0 0 C6orf118 168090 broad.mit.edu 37 6 165715310 165715310 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:165715310G>A uc003qum.3 - 2 537 c.501C>T c.(499-501)GGC>GGT p.G167G C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 167 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) ATCCAGGAGGGCCCCGTCCAG 0.627 NA 8 156 0 0 0 0 DAGLB 221955 broad.mit.edu 37 7 6449640 6449640 + Missense_Mutation SNP T T C rs138947170 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:6449640T>C uc003sqa.2 - 15 2017 c.1847A>G c.(1846-1848)TAT>TGT p.Y616C DAGLB_uc003spy.2_Missense_Mutation_p.Y162C|DAGLB_uc003spz.2_Missense_Mutation_p.Y313C|DAGLB_uc011jwt.1_Missense_Mutation_p.Y430C|DAGLB_uc011jwu.1_Missense_Mutation_p.Y487C|DAGLB_uc003sqb.2_Missense_Mutation_p.Y335C|DAGLB_uc003sqc.2_Missense_Mutation_p.Y335C|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.Y575C NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 616 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CTTGGCGCTATAGTGAGCAGC 0.597 NA 7 100 0 0 0 0 BMPER 168667 broad.mit.edu 37 7 34097738 34097738 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:34097738G>A uc011kap.1 + 10 1109 c.995G>A c.(994-996)CGC>CAC p.R332H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 332 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 ACGGAGTGTCGCAATAAGCAG 0.493 NA 8 86 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602370 138602370 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:138602370C>T uc011kql.1 - 2 2051 c.2002G>A c.(2002-2004)GAG>AAG p.E668K KIAA1549_uc003vuk.3_Missense_Mutation_p.E618K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E668K NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 668 Ser-rich. integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GTAAATGTCTCAACCAAGGGA 0.502 NA O BRAF pilocytic astrocytoma 3 24 0 0 0 0 DNAJB6 10049 broad.mit.edu 37 7 157160131 157160131 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:157160131C>T uc003wnk.2 + 5 454 c.300C>T c.(298-300)TTC>TTT p.F100F DNAJB6_uc003wnj.2_Silent_p.F100F|DNAJB6_uc003wnl.2_Silent_p.F87F|DNAJB6_uc011kvy.1_Silent_p.F51F|DNAJB6_uc011kvz.1_Silent_p.F100F|DNAJB6_uc010lqt.2_Silent_p.F100F NM_058246 NP_490647 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 100 Gly/Phe-rich.|Interaction with HSP70. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding ovary(2) 2 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ATGATGTCTTCAGGGAATTTT 0.408 NA 18 242 0 0 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409510 59409510 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:59409510G>A uc003xtm.3 - 3 624 c.561C>T c.(559-561)ATC>ATT p.I187I NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 187 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CTCTGCCAAAGATAGTTAAAT 0.453 NA Neonatal_Giant_Cell_Hepatitis 28 218 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69021852 69021852 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:69021852T>G uc003xxv.1 + 25 3167 c.3140T>G c.(3139-3141)ATA>AGA p.I1047R PREX2_uc011lez.1_Missense_Mutation_p.I982R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1047 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GTTTGTCAAATAGATGAGTAA 0.348 NA 34 99 0 0 0 0 FER1L6 654463 broad.mit.edu 37 8 125076788 125076788 + Nonsense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:125076788G>T uc003yqw.2 + 26 3735 c.3529G>T c.(3529-3531)GAG>TAG p.E1177* uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1177 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGTAGCCCAGGAGCCACCAAA 0.527 NA 7 120 0.000274275 0.000302406 1 0 RNF139 11236 broad.mit.edu 37 8 125498931 125498931 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:125498931G>A uc003yrc.2 + 2 1384 c.1041G>A c.(1039-1041)GAG>GAA p.E347E NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 347 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GACCAGAAGAGAGACTTATTC 0.413 NA Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 50 350 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131880122 131880122 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:131880122G>A uc003ytd.3 - 9 2436 c.2180C>T c.(2179-2181)ACG>ATG p.T727M ADCY8_uc010mds.2_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 727 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGTATTGCCGTGATAAATAG 0.353 NA HNSCC(32;0.087) 18 113 0 0 0 0 OC90 729330 broad.mit.edu 37 8 133062085 133062085 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:133062085G>C uc003ytg.2 - 1 32 c.32C>G c.(31-33)ACA>AGA p.T11R OC90_uc011lix.1_Intron NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 Error:Variant_position_missing_in_Q02509_after_alignment lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGGCTGTAATGTATCACAGAT 0.408 NA 8 162 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139380208 139380208 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:139380208T>G uc003yuy.2 - 2 190 c.19A>C c.(19-21)ACG>CCG p.T7P FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 7 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACTCAACCGTTCCTTGTATT 0.323 NA HNSCC(54;0.14) 18 201 0 0 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88940312 88940312 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:88940312G>A uc004aoq.2 - 12 1941 c.1726C>T c.(1726-1728)CGT>TGT p.R576C ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R453C|ZCCHC6_uc004aou.2_Missense_Mutation_p.R576C NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 576 PAP-associated 1. RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TCTTTGACACGAATACTTATC 0.423 NA 4 137 0 0 0 0 C9orf47 286223 broad.mit.edu 37 9 91605992 91605992 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:91605992C>G uc004aqd.2 + 1 215 c.82C>G c.(82-84)CGA>GGA p.R28G S1PR3_uc004aqe.2_5'Flank|C9orf47_uc004aqc.1_Missense_Mutation_p.R28G NM_001001938 NP_001001938 Q6ZRZ4 CI047_HUMAN hypothetical protein LOC286223 isoform 1 28 extracellular region 0 GCTGTCAGGGCGACAGGCGCC 0.567 NA 7 50 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98209663 98209663 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:98209663G>A uc004avk.3 - 23 4063 c.3875C>T c.(3874-3876)TCC>TTC p.S1292F PTCH1_uc010mrn.2_Missense_Mutation_p.S84F|PTCH1_uc010mro.2_Missense_Mutation_p.S1141F|PTCH1_uc010mrp.2_Missense_Mutation_p.S1141F|PTCH1_uc010mrq.2_Missense_Mutation_p.S1141F|PTCH1_uc004avl.3_Missense_Mutation_p.S1141F|PTCH1_uc010mrr.2_Missense_Mutation_p.S1226F|PTCH1_uc004avm.3_Missense_Mutation_p.S1291F NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1292 Cytoplasmic (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.S1292F(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GGGAGGCAGGGACCCTGAGTC 0.652 NA Basal_Cell_Nevus_syndrome 15 184 0 0 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714638 138714638 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:138714638G>A uc004cgr.3 - 11 1869 c.1869C>T c.(1867-1869)ATC>ATT p.I623I CAMSAP1_uc004cgq.3_Silent_p.I513I|CAMSAP1_uc010nbg.2_Silent_p.I345I NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 623 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCTAGACACGATGCTCCTCG 0.547 NA 11 138 0 0 0 0 P2RY10 27334 broad.mit.edu 37 X 78217001 78217001 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:78217001C>T uc004ede.2 + 4 1353 c.984C>T c.(982-984)CTC>CTT p.L328L P2RY10_uc004edf.2_Silent_p.L328L NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 328 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 GCTCCCGCCTCATGAGCAAGG 0.438 NA 18 119 0 0 0 0 CLDN2 9075 broad.mit.edu 37 X 106171760 106171760 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:106171760G>C uc004emq.1 + 2 821 c.302G>C c.(301-303)GGC>GCC p.G101A MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.G101A NM_020384 NP_065117 P57739 CLD2_HUMAN claudin 2 101 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 TCTGTGGTGGGCATGAGATGC 0.572 NA 16 96 0 0 0 0 SLC25A5 292 broad.mit.edu 37 X 118604391 118604391 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:118604391G>A uc004erh.3 + 3 770 c.654G>A c.(652-654)CAG>CAA p.Q218Q LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank NM_001152 NP_001143 P05141 ADT2_HUMAN adenine nucleotide translocator 2 218 Helical; Name=5; (By similarity).|Solcar 3. chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex adenine transmembrane transporter activity|protein binding ovary(1) 1 Clodronate(DB00720) TGATCGCACAGACTGTCACTG 0.488 NA 15 72 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 147743550 147743550 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:147743550C>A uc004fcp.2 + 3 781 c.302C>A c.(301-303)TCT>TAT p.S101Y AFF2_uc004fco.2_Missense_Mutation_p.S97Y|AFF2_uc004fcq.2_Missense_Mutation_p.S97Y|AFF2_uc004fcr.2_Missense_Mutation_p.S97Y|AFF2_uc011mxb.1_Missense_Mutation_p.S101Y|AFF2_uc004fcs.2_Missense_Mutation_p.S97Y NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 101 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCAAAGAATTCTGTGCCCCAG 0.403 NA 29 170 7.38e-10 8.74e-10 1 0 SLC2A5 6518 broad.mit.edu 37 1 9129568 9129568 + Frame_Shift_Del DEL C C - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:9129568delC uc001apo.2 - 1 320 c.28delG c.(28-30)GAAfs p.E10fs SLC2A5_uc010nzz.1_5'UTR|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Frame_Shift_Del_p.E10fs|SLC2A5_uc010oac.1_Frame_Shift_Del_p.E10fs|SLC2A5_uc001app.3_Frame_Shift_Del_p.E10fs NM_003039 NP_003030 P22732 GTR5_HUMAN solute carrier family 2 (facilitated 10 Cytoplasmic (Potential). carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity pancreas(2)|ovary(1) 3 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTCACCCCTTCCTTCATGCTC 0.587 NA 38 483 --- --- --- --- NA NA NA NA SOAT1 6646 broad.mit.edu 37 1 179310294 179310295 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:179310294_179310295insT uc001gml.2 + 7 692_693 c.629_630insT c.(628-630)TATfs p.Y210fs SOAT1_uc010pni.1_Frame_Shift_Ins_p.Y145fs|SOAT1_uc001gmm.2_Frame_Shift_Ins_p.Y152fs|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Frame_Shift_Ins_p.Y145fs NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 210 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) GCCACTGGCTATAGCAAGAGTT 0.431 NA 35 486 --- --- --- --- NA NA NA NA C1orf35 79169 broad.mit.edu 37 1 228288853 228288854 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:228288853_228288854insT uc001hrx.2 - 8 864_865 c.770_771insA c.(769-771)CATfs p.H257fs C1orf35_uc009xew.2_RNA NM_024319 NP_077295 Q9BU76 MMTA2_HUMAN hypothetical protein LOC79169 257 0 Prostate(94;0.0488) AGCCTCTGTCATGCCACCTGCG 0.634 NA 12 116 --- --- --- --- NA NA NA NA TTC17 55761 broad.mit.edu 37 11 43413095 43413096 + Frame_Shift_Ins INS - - A rs138517922 by1000genomes TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:43413095_43413096insA uc001mxi.2 + 4 514_515 c.500_501insA c.(499-501)CCAfs p.P167fs TTC17_uc001mxh.2_Frame_Shift_Ins_p.P167fs|TTC17_uc010rfj.1_Frame_Shift_Ins_p.P110fs NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 167 binding ovary(5) 5 CTAGAACTTCCATATAGTATAC 0.356 NA 20 127 --- --- --- --- NA NA NA NA XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:64812755delT uc001ssb.2 + 6 796 c.370delT c.(370-372)TTTfs p.F124fs XPOT_uc009zqm.1_Frame_Shift_Del_p.F34fs NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 124 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 NA 7 322 --- --- --- --- NA NA NA NA SOX21 11166 broad.mit.edu 37 13 95364121 95364135 + In_Frame_Del DEL GGCCTCGTCGATGAA GGCCTCGTCGATGAA - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:95364121_95364135delGGCCTCGTCGATGAA uc001vma.2 - 1 255_269 c.169_183delTTCATCGACGAGGCC c.(169-183)TTCATCGACGAGGCCdel p.FIDEA57del uc001vmb.1_5'Flank NM_007084 NP_009015 Q9Y651 SOX21_HUMAN SRY-box 21 57_61 HMG box. regulation of transcription from RNA polymerase II promoter|stem cell differentiation nucleus DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 all_neural(89;0.0646)|Medulloblastoma(90;0.163) GTAGACGCTTGGCCTCGTCGATGAACGGCCGCTTC 0.614 NA 24 104 --- --- --- --- NA NA NA NA TOX4 9878 broad.mit.edu 37 14 21963465 21963466 + Frame_Shift_Ins INS - - A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:21963465_21963466insA uc001waz.2 + 8 1822_1823 c.1719_1720insA c.(1717-1722)GTGAGGfs p.V573fs TOX4_uc001way.2_Frame_Shift_Ins_p.V443fs|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Frame_Shift_Ins_p.V550fs|TOX4_uc010tlv.1_Frame_Shift_Ins_p.V443fs NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 573_574 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CTCGATGTGTGAGGTCTGGTTG 0.505 NA 15 218 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579514 7579514 + Frame_Shift_Del DEL G G - rs144386518 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:7579514delG uc002gim.2 - 4 367 c.173delC c.(172-174)CCAfs p.P58fs TP53_uc002gig.1_Frame_Shift_Del_p.P58fs|TP53_uc002gih.2_Frame_Shift_Del_p.P58fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P58fs|TP53_uc010cni.1_Frame_Shift_Del_p.P58fs|TP53_uc002gij.2_Frame_Shift_Del_p.P58fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P73fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 58 Interaction with HRMT1L2. P -> T (in a sporadic cancer; somatic mutation).|P -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(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) ATCTGGACCTGGGTCTTCAGT 0.602 111 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) 121 266 --- --- --- --- NA NA NA NA CYB561 1534 broad.mit.edu 37 17 61511870 61511870 + Frame_Shift_Del DEL A A - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:61511870delA uc002jap.2 - 5 1051 c.649delT c.(649-651)TACfs p.Y217fs CYB561_uc002jaq.2_Frame_Shift_Del_p.Y263fs|CYB561_uc002jar.2_Frame_Shift_Del_p.Y217fs|CYB561_uc002jas.2_Frame_Shift_Del_p.Y217fs|CYB561_uc010ddt.2_3'UTR|CYB561_uc002jat.2_Frame_Shift_Del_p.Y217fs|CYB561_uc010wpf.1_3'UTR|CYB561_uc010wpg.1_Frame_Shift_Del_p.Y188fs NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 217 Cytochrome b561.|Helical; (Potential). electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) GTCAAGATGTAGAGCACCGCC 0.657 NA 7 30 --- --- --- --- NA NA NA NA PPP2R1A 5518 broad.mit.edu 37 19 52724304 52724305 + Frame_Shift_Ins INS - - T rs141690261 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:52724304_52724305insT uc002pyp.2 + 12 1595_1596 c.1436_1437insT c.(1435-1437)CATfs p.H479fs PPP2R1A_uc010ydk.1_Frame_Shift_Ins_p.H424fs|PPP2R1A_uc002pyq.2_Frame_Shift_Ins_p.H300fs NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 479 PP2A subunit C binding.|HEAT 13. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GAGTGGGCCCATGCCACAATCA 0.559 NA Mis clear cell ovarian carcinoma 21 152 --- --- --- --- NA NA NA NA TFAP2C 7022 broad.mit.edu 37 20 55208539 55208540 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:55208539_55208540insT uc002xya.2 + 4 960_961 c.717_718insT c.(715-720)AAATACfs p.K239fs TFAP2C_uc010zzi.1_Frame_Shift_Ins_p.K70fs NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 239_240 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) CTACGTCTAAATACAAAGTGAC 0.535 NA 19 112 --- --- --- --- NA NA NA NA