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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample KLHL17 339451 broad.mit.edu 37 1 897016 897016 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:897016G>A uc001aca.1 + 3 482 c.375G>A c.(373-375)ATG>ATA p.M125I NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_Missense_Mutation_p.M1I|KLHL17_uc010nya.1_Missense_Mutation_p.M1I|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank NM_198317 NP_938073 Q6TDP4 KLH17_HUMAN kelch-like 17 125 BTB. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAGATGAGATGAGCGAGAGCC 0.657 NaN 0 0 0 0.146539 0 16 5 TMEM57 55219 broad.mit.edu 37 1 25810749 25810749 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:25810749G>A uc001bkk.2 + 7 1499 c.1297G>A c.(1297-1299)GAG>AAG p.E433K TMEM57_uc009vru.2_Missense_Mutation_p.E206K|TMEM57_uc009vrv.2_Missense_Mutation_p.E75K NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN transmembrane protein 57 433 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GCAGGAGAACGAGCTGCTGCA 0.572 NaN 0 0 0 0.27861 0 7 47 MANEAL 149175 broad.mit.edu 37 1 38265863 38265863 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:38265863G>T uc001cby.2 + 4 1443 c.1362G>T c.(1360-1362)CAG>CAT p.Q454H MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.Q232H NM_001113482 NP_001106954 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like isoform 3 454 Lumenal (Potential). Golgi membrane|integral to membrane hydrolase activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGAAGGAGCAGTGGCTCATGT 0.587 NaN 1 0 1.99824e-07 0.160694 2.11934e-07 16 122 INPP5B 3633 broad.mit.edu 37 1 38332195 38332195 + Silent SNP T T A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:38332195T>A uc001ccg.1 - 21 2416 c.2322A>T c.(2320-2322)CCA>CCT p.P774P INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Silent_p.P610P NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 854 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACCTCAGGCCTGGTTGCTGAA 0.363 NaN 0 0 0 0.175082 0 16 118 FOXE3 2301 broad.mit.edu 37 1 47882237 47882237 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:47882237C>G uc001crk.2 + 1 494 c.250C>G c.(250-252)CTG>GTG p.L84V NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 84 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) CGCCATGGCTCTGGCGCACGC 0.512 NaN 0 0 0 0.307466 0 9 22 ROR1 4919 broad.mit.edu 37 1 64605962 64605962 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:64605962C>T uc001dbj.2 + 6 1180 c.781C>T c.(781-783)CAA>TAA p.Q261* ROR1_uc001dbi.3_Nonsense_Mutation_p.Q261*|uc001dbl.2_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 261 FZ.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 TGTCCTGTGTCAAACAGAGTA 0.498 NaN 0 0 0 0.323286 0 83 81 MTF2 22823 broad.mit.edu 37 1 93602319 93602319 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:93602319G>C uc009wdj.2 + 15 1809 c.1517G>C c.(1516-1518)AGA>ACA p.R506T MTF2_uc010oth.1_Missense_Mutation_p.R404T|MTF2_uc009wdk.2_Missense_Mutation_p.R449T|MTF2_uc001dpi.3_Missense_Mutation_p.R233T|MTF2_uc010oti.1_Missense_Mutation_p.R404T|MTF2_uc001dpj.3_Missense_Mutation_p.R404T|MTF2_uc001dpl.3_Missense_Mutation_p.R404T|MTF2_uc001dpm.3_Missense_Mutation_p.R175T NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 506 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) CTTCCAAGAAGAGCACTCCAG 0.403 NaN 0 0 0 0.203993 0 33 59 HIAT1 64645 broad.mit.edu 37 1 100534050 100534050 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:100534050G>C uc001dst.2 + 7 727 c.727G>C c.(727-729)GAT>CAT p.D243H NM_033055 NP_149044 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 243 Extracellular (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity 0 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) AGTCGGCCAAGATTCCATAGT 0.383 NaN 0 0 0 0.153744 0 28 66 COL11A1 1301 broad.mit.edu 37 1 103431095 103431095 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:103431095C>T uc001dul.2 - 38 3182 c.2864G>A c.(2863-2865)GGA>GAA p.G955E COL11A1_uc001duk.2_Missense_Mutation_p.G151E|COL11A1_uc001dum.2_Missense_Mutation_p.G967E|COL11A1_uc001dun.2_Missense_Mutation_p.G916E|COL11A1_uc009weh.2_Missense_Mutation_p.G839E NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 955 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) GCCTTGAAATCCCTAAGGAGG 0.388 NaN 0 0 0 0.323286 0 53 72 PSRC1 84722 broad.mit.edu 37 1 109824459 109824459 + Missense_Mutation SNP C C T rs144416204 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:109824459C>T uc001dxg.2 - 4 423 c.301G>A c.(301-303)GAG>AAG p.E101K PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.E101K|PSRC1_uc001dxd.2_Missense_Mutation_p.E101K|PSRC1_uc001dxe.2_Missense_Mutation_p.E101K|PSRC1_uc001dxf.2_Missense_Mutation_p.E101K|PSRC1_uc001dxh.2_Missense_Mutation_p.E101K|PSRC1_uc001dxi.2_Missense_Mutation_p.E101K|PSRC1_uc001dxj.2_Missense_Mutation_p.E101K NM_001032290 NP_001027461 Q6PGN9 PSRC1_HUMAN proline/serine-rich coiled-coil 1 isoform c 101 cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding 0 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) CCCAGGCCCTCGCCTGCGCTC 0.647 NaN 0 0 0 0.234183 0 19 23 C1orf43 25912 broad.mit.edu 37 1 154180113 154180113 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:154180113C>T uc001fei.2 - 7 968 c.578G>A c.(577-579)CGA>CAA p.R193Q C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.R90Q|C1orf43_uc001feg.2_Missense_Mutation_p.R159Q|C1orf43_uc001feh.2_Missense_Mutation_p.R141Q|C1orf43_uc001fej.2_Missense_Mutation_p.R175Q|C1orf43_uc009wos.1_3'UTR NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 193 integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) GCTCCCAATTCGTGCTTTAAC 0.507 NaN 0 0 0 0.294199 0 20 64 RGS5 8490 broad.mit.edu 37 1 163131761 163131761 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:163131761G>C uc001gcn.2 - 3 408 c.161C>G c.(160-162)TCG>TGG p.S54W RGS5_uc009wvb.2_Intron NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 54 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) CTCGTCCAGCGAGGTTCTACA 0.428 NaN 0 0 0 0.307466 0 6 48 POGK 57645 broad.mit.edu 37 1 166818581 166818581 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:166818581G>A uc001gdt.1 + 5 885 c.765G>A c.(763-765)AAG>AAA p.K255K POGK_uc010ple.1_Silent_p.K170K|POGK_uc010plf.1_Silent_p.K137K NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 255 HTH CENPB-type. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GAGGCCCCAAGAATGGGAGGT 0.567 NaN 0 0 0 0.173368 0 29 21 POU2F1 5451 broad.mit.edu 37 1 167365643 167365643 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:167365643G>C uc001gec.2 + 11 1201 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.E345Q|POU2F1_uc001gee.2_Missense_Mutation_p.E347Q|POU2F1_uc010plh.1_Missense_Mutation_p.E284Q|POU2F1_uc001gef.2_Missense_Mutation_p.E359Q|POU2F1_uc001geg.2_Missense_Mutation_p.E245Q|POU2F1_uc009wvg.1_5'Flank NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 347 POU-specific. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 GCCACTTTTAGAGAAGTGGCT 0.368 NaN 0 0 0 0.144211 0 26 78 PRRX1 5396 broad.mit.edu 37 1 170688895 170688895 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:170688895G>T uc001ghf.2 + 2 317 c.270G>T c.(268-270)AAG>AAT p.K90N PRRX1_uc001ghe.2_Missense_Mutation_p.K90N NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 90 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAGAAAAAAAGAAGAGAAAGC 0.433 NaN 1 0 5.18039e-06 0.27861 5.38556e-06 7 22 PRRX1 5396 broad.mit.edu 37 1 170688965 170688965 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:170688965G>A uc001ghf.2 + 2 387 c.340G>A c.(340-342)GAG>AAG p.E114K PRRX1_uc001ghe.2_Missense_Mutation_p.E114K NM_022716 NP_073207 P54821 PRRX1_HUMAN paired mesoderm homeobox 1 isoform pmx-1b 114 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCGTGTCTTTGAGCGGACACA 0.522 NaN 0 0 0 0.204396 0 15 65 CEP350 9857 broad.mit.edu 37 1 179965793 179965793 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:179965793G>A uc001gnt.2 + 6 884 c.501G>A c.(499-501)ATG>ATA p.M167I CEP350_uc001gnr.1_Missense_Mutation_p.M141I|CEP350_uc009wxl.2_Missense_Mutation_p.M166I|CEP350_uc001gnu.2_Missense_Mutation_p.M1I NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 167 centrosome|nucleus|spindle ovary(4) 4 GTAACTGGATGATAGGCAGTC 0.418 NaN 0 0 0 0.189662 0 19 15 CDC42BPA 8476 broad.mit.edu 37 1 227307535 227307535 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:227307535C>T uc001hqr.2 - 12 2560 c.1617G>A c.(1615-1617)ACG>ACA p.T539T CDC42BPA_uc001hqs.2_Silent_p.T539T|CDC42BPA_uc009xes.2_Silent_p.T539T|CDC42BPA_uc010pvs.1_Silent_p.T539T NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 539 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) CTTGTTGTAACGTTTTGATTT 0.308 NaN 0 0 0 0.115264 0 3 18 LYST 1130 broad.mit.edu 37 1 235907429 235907429 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:235907429C>G uc001hxj.2 - 30 8176 c.8001G>C c.(7999-8001)TTG>TTC p.L2667F LYST_uc009xga.1_Missense_Mutation_p.L303F NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2667 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGGAGTTCTCAAAATGTCAA 0.294 NaN Chediak-Higashi_syndrome 0 0 0 0.248553 0 7 65 LYST 1130 broad.mit.edu 37 1 235907458 235907458 + Splice_Site SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:235907458C>G uc001hxj.2 - 30 8148 c.7973_splice c.e30-1 p.E2658_splice LYST_uc009xga.1_Splice_Site_p.E294_splice NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAATTAAATTCTTTGAATTGA 0.264 NaN Chediak-Higashi_syndrome 0 0 0 0.150653 0 4 47 CELF2 10659 broad.mit.edu 37 10 11308619 11308619 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:11308619G>A uc001iki.3 + 6 668 c.576G>A c.(574-576)ATG>ATA p.M192I CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Missense_Mutation_p.M192I|CELF2_uc001ikk.2_Missense_Mutation_p.M199I|CELF2_uc001ikl.3_Missense_Mutation_p.M199I|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Missense_Mutation_p.M168I|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Missense_Mutation_p.M168I|CELF2_uc001ikp.3_Missense_Mutation_p.M168I|CELF2_uc010qbn.1_Missense_Mutation_p.M176I|CELF2_uc010qbo.1_Missense_Mutation_p.M81I|CELF2_uc010qbp.1_Intron NM_001025077 NP_001020248 O95319 CELF2_HUMAN CUG triplet repeat, RNA binding protein 2 192 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding 0 TCAAAGCCATGCATCAGTCTC 0.453 NaN 0 0 0 0.217242 0 5 34 A1CF 29974 broad.mit.edu 37 10 52569778 52569778 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:52569778C>T uc001jjj.2 - 12 1697 c.1509G>A c.(1507-1509)CTG>CTA p.L503L A1CF_uc010qhn.1_Silent_p.L503L|A1CF_uc001jji.2_Silent_p.L495L|A1CF_uc001jjh.2_Silent_p.L503L|A1CF_uc010qho.1_Silent_p.L511L|A1CF_uc009xov.2_Silent_p.L495L NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 503 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 CAAAGGCACTCAGCTTTGGAG 0.483 NaN 0 0 0 0.279207 0 20 43 NRG3 10718 broad.mit.edu 37 10 84118578 84118578 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:84118578G>C uc001kco.2 + 2 934 c.907G>C c.(907-909)GAG>CAG p.E303Q NRG3_uc010qlz.1_Missense_Mutation_p.E303Q|NRG3_uc001kcp.2_Missense_Mutation_p.E82Q|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 303 EGF-like.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAATGATGGCGAGTGCTTTGT 0.547 NaN 0 0 0 0.279207 0 24 59 KIF11 3832 broad.mit.edu 37 10 94368903 94368903 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:94368903C>G uc001kic.2 + 5 822 c.514C>G c.(514-516)CTT>GTT p.L172V KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 172 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 TTTTGATCTTCTTAATCCATC 0.333 NaN 0 0 0 0.234183 0 19 82 CHUK 1147 broad.mit.edu 37 10 101967090 101967090 + Splice_Site SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:101967090C>T uc001kqp.2 - 11 1184 c.1129_splice c.e11-1 p.R377_splice NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity p.?(1) ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) CACAGCCTCTCTGAAAAAGAA 0.308 NaN 0 0 0 0.184627 0 4 35 DCLRE1A 9937 broad.mit.edu 37 10 115596920 115596920 + Nonsense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:115596920G>A uc001law.2 - 8 3781 c.2863C>T c.(2863-2865)CAG>TAG p.Q955* NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 955 cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) GCCAAAATCTGATTGTATTTC 0.368 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.268233 0 37 74 FGFR2 2263 broad.mit.edu 37 10 123274680 123274680 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr10:123274680G>A uc010qtk.1 - 9 1885 c.1238C>T c.(1237-1239)CCG>CTG p.P413L FGFR2_uc010qtg.1_Missense_Mutation_p.P301L|FGFR2_uc010qth.1_Missense_Mutation_p.P298L|FGFR2_uc010qti.1_Missense_Mutation_p.P324L|FGFR2_uc010qtj.1_Missense_Mutation_p.P414L|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.P298L|FGFR2_uc001lfl.3_Missense_Mutation_p.P414L|FGFR2_uc001lfm.2_Missense_Mutation_p.P325L|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.P23L NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 413 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GTGCACAGCCGGCTGGCTGCT 0.493 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.249174 0 19 77 CDHR5 53841 broad.mit.edu 37 11 620354 620354 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:620354G>C uc001lqj.2 - 8 927 c.822C>G c.(820-822)ATC>ATG p.I274M CDHR5_uc001lqk.2_Missense_Mutation_p.I274M|CDHR5_uc009ycc.2_Missense_Mutation_p.I108M|CDHR5_uc009ycd.2_Missense_Mutation_p.I274M|CDHR5_uc001lql.2_Missense_Mutation_p.I274M|CDHR5_uc001lqm.2_Missense_Mutation_p.I108M|CDHR5_uc009yce.1_Missense_Mutation_p.I243M NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 274 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CCTCAGCGTAGATGGGTCCGG 0.657 NaN 0 0 0 0.069234 0 9 57 DUSP8 1850 broad.mit.edu 37 11 1579452 1579452 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:1579452G>C uc001lts.2 - 5 715 c.587C>G c.(586-588)TCC>TGC p.S196C NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 196 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CTTGGGGCAGGAGTTGCTGGC 0.592 NaN 0 0 0 0.160694 0 18 20 OR52K1 390036 broad.mit.edu 37 11 4510933 4510933 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:4510933G>A uc001lza.1 + 1 803 c.803G>A c.(802-804)CGC>CAC p.R268H NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CGTGTAGCCCGCCATGCTGCC 0.502 NaN 0 0 0 0.193644 0 30 167 NLRP10 338322 broad.mit.edu 37 11 7981220 7981220 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:7981220C>G uc001mfv.1 - 2 1956 c.1939G>C c.(1939-1941)GAG>CAG p.E647Q NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 647 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGTGTTTCCTCTGTCCCTCTG 0.259 NaN 0 0 0 0.105934 0 11 12 NLRP10 338322 broad.mit.edu 37 11 7981650 7981650 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:7981650C>G uc001mfv.1 - 2 1526 c.1509G>C c.(1507-1509)GAG>GAC p.E503D NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 503 ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCCTTCCTGCTCCTTTACCT 0.488 NaN 0 0 0 0.214465 0 34 25 TMEM132A 54972 broad.mit.edu 37 11 60695125 60695125 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:60695125C>T uc001nqj.2 + 3 521 c.328C>T c.(328-330)CGA>TGA p.R110* TMEM132A_uc001nqi.2_Nonsense_Mutation_p.R110*|TMEM132A_uc001nqk.2_Nonsense_Mutation_p.R123*|TMEM132A_uc001nql.1_Nonsense_Mutation_p.R123* NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 110 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GGTCCCCCCTCGAGTCACTGA 0.597 NaN 0 0 0 0.175082 0 12 169 INTS5 80789 broad.mit.edu 37 11 62416037 62416037 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:62416037C>T uc001nud.2 - 2 1568 c.1515G>A c.(1513-1515)CTG>CTA p.L505L 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 5 505 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 AGACAGACAGCAGGCCCAAGA 0.562 NaN 0 0 0 0.204396 0 17 100 MRPL21 219927 broad.mit.edu 37 11 68660897 68660897 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:68660897G>T uc001ooi.2 - 5 448 c.423C>A c.(421-423)TTC>TTA p.F141L MRPL21_uc001ooh.2_Missense_Mutation_p.F56L|MRPL21_uc010rqe.1_Missense_Mutation_p.F141L NM_181514 NP_852615 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 isoform d 141 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAAGCAGCGTGAAGTTGTCTG 0.507 NaN 1 0 2.43139e-17 0.323286 2.70155e-17 49 50 P2RY2 5029 broad.mit.edu 37 11 72945902 72945902 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:72945902C>T uc001otj.2 + 3 1031 c.698C>T c.(697-699)TCG>TTG p.S233L P2RY2_uc001otk.2_Missense_Mutation_p.S233L|P2RY2_uc001otl.2_Missense_Mutation_p.S233L NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 233 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) TACGGGACCTCGGGCGGCCTG 0.647 NaN 0 0 0 0.323286 0 61 56 B3GNT6 192134 broad.mit.edu 37 11 76751660 76751660 + Silent SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:76751660A>G uc001oxw.2 + 6 1150 c.1062A>G c.(1060-1062)CTA>CTG p.L354L NM_138706 NP_619651 Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal 354 Lumenal (Potential). O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity 0 AGTTGCTGCTAGTGCACCGCT 0.682 NaN 0 0 0 0.27861 0 6 26 ATM 472 broad.mit.edu 37 11 108196036 108196036 + Splice_Site SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:108196036G>A uc001pkb.1 + 46 6958 c.6573_splice c.e46-1 p.R2191_splice ATM_uc009yxr.1_Splice_Site_p.R2191_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R843_splice|ATM_uc001pkg.1_Splice_Site_p.R548_splice NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTGGCATTCAGATCAGTCACA 0.328 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.323286 0 48 14 C11orf65 160140 broad.mit.edu 37 11 108264059 108264059 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:108264059G>C uc001pkh.2 - 7 677 c.607C>G c.(607-609)CTA>GTA p.L203V C11orf65_uc010rvx.1_Missense_Mutation_p.L154V|C11orf65_uc009yxu.1_RNA NM_152587 NP_689800 Q8NCR3 CK065_HUMAN hypothetical protein LOC160140 203 ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATTAGTCCTAGAGTTTCATGA 0.413 NaN 0 0 0 0.080935 0 10 89 VPS11 55823 broad.mit.edu 37 11 118949563 118949563 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:118949563G>A uc010ryx.1 + 14 2164 c.2122G>A c.(2122-2124)GTG>ATG p.V708M VPS11_uc010ryy.1_Missense_Mutation_p.V554M NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 708 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GGTCATCAGCGTGTGTGAGCG 0.622 NaN 0 0 0 0.132662 0 15 9 VSIG2 23584 broad.mit.edu 37 11 124620668 124620668 + Silent SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:124620668G>T uc001qas.2 - 3 445 c.369C>A c.(367-369)GTC>GTA p.V123V VSIG2_uc001qat.2_Silent_p.V123V NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 123 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTGGGTTGTTGACTTGGCAGA 0.552 NaN 1 0 6.49762e-13 0.175082 7.14398e-13 16 20 KDM5A 5927 broad.mit.edu 37 12 427453 427453 + Nonsense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:427453C>A uc001qif.1 - 19 3079 c.2716G>T c.(2716-2718)GAA>TAA p.E906* KDM5A_uc001qie.1_Nonsense_Mutation_p.E906*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.E865* NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 906 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AGTCTTACTTCGTCCAACCAC 0.488 NaN T NUP98 AML 1 0 2.32078e-09 0.132662 2.49931e-09 13 140 FOXM1 2305 broad.mit.edu 37 12 2973567 2973567 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:2973567C>T uc001qlf.2 - 8 1450 c.1185G>A c.(1183-1185)GTG>GTA p.V395V FOXM1_uc001qle.2_Silent_p.V395V|FOXM1_uc001qlg.2_Silent_p.V380V|FOXM1_uc009zea.2_Silent_p.V380V|FOXM1_uc009zeb.2_Silent_p.V379V NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 395 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) ATGGCACCTTCACCGAGGGCT 0.592 NaN 0 0 0 0.323286 0 50 90 KIF21A 55605 broad.mit.edu 37 12 39761747 39761747 + Missense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:39761747C>A uc001rly.2 - 4 684 c.538G>T c.(538-540)GAT>TAT p.D180Y KIF21A_uc001rlx.2_Missense_Mutation_p.D180Y|KIF21A_uc001rlz.2_Missense_Mutation_p.D180Y|KIF21A_uc010skl.1_Missense_Mutation_p.D180Y|KIF21A_uc001rma.1_Missense_Mutation_p.D180Y NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 180 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CCAGTTGAATCTTCATGAATT 0.308 NaN 1 0 1.39843e-22 0.323286 1.58741e-22 50 147 ZC3H10 84872 broad.mit.edu 37 12 56515546 56515546 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:56515546G>A uc001sjp.1 + 3 1389 c.1200G>A c.(1198-1200)TCG>TCA p.S400S NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 400 nucleic acid binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.12) TGGCTGTATCGATGGCCCAAC 0.592 NaN 0 0 0 0.307466 0 8 70 NAP1L1 4673 broad.mit.edu 37 12 76449866 76449866 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:76449866C>T uc001sxw.2 - 7 917 c.505G>A c.(505-507)GAA>AAA p.E169K NAP1L1_uc001sxv.2_Missense_Mutation_p.E127K|NAP1L1_uc001sxz.2_Missense_Mutation_p.E100K|NAP1L1_uc001sxx.2_Missense_Mutation_p.E169K|NAP1L1_uc001sxy.2_Missense_Mutation_p.E106K|NAP1L1_uc010sty.1_Missense_Mutation_p.E126K|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Missense_Mutation_p.E169K|NAP1L1_uc001syb.2_Missense_Mutation_p.E169K|NAP1L1_uc001sya.2_Missense_Mutation_p.E127K|NAP1L1_uc001syc.2_Missense_Mutation_p.E180K NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 169 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) AACCAAAATTCAGGAATTCCT 0.328 NaN 0 0 0 0.080935 0 12 36 ACSS3 79611 broad.mit.edu 37 12 81647291 81647291 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:81647291G>C uc001szl.1 + 15 1928 c.1837G>C c.(1837-1839)GAG>CAG p.E613Q ACSS3_uc001szm.1_Missense_Mutation_p.E612Q|ACSS3_uc001szn.1_Missense_Mutation_p.E295Q NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 613 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGCAACAGAGGAGCAAGTTTT 0.398 NaN 0 0 0 0.323286 0 62 17 ATP2B1 490 broad.mit.edu 37 12 90028786 90028786 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:90028786G>C uc001tbh.2 - 3 830 c.649C>G c.(649-651)CAA>GAA p.Q217E ATP2B1_uc001tbg.2_Missense_Mutation_p.Q217E NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 217 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TATTTCACTTGAGCAATATCT 0.348 NaN 0 0 0 0.323286 0 61 27 CLIP1 6249 broad.mit.edu 37 12 122758620 122758620 + Silent SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:122758620C>G uc001ucg.1 - 24 4162 c.4056G>C c.(4054-4056)CTG>CTC p.L1352L CLIP1_uc001uch.1_Silent_p.L1341L|CLIP1_uc001uci.1_Silent_p.L1306L|CLIP1_uc001ucf.1_Silent_p.L11L NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 1352 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CGTTCCCATTCAGGGCTGCTT 0.313 NaN 0 0 0 0.323286 0 119 139 ANKLE2 23141 broad.mit.edu 37 12 133313491 133313491 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:133313491C>T uc001ukx.2 - 8 1648 c.1581G>A c.(1579-1581)CTG>CTA p.L527L ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.L465L NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 527 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TGGCTGGACTCAGGGGCCCTG 0.627 NaN 0 0 0 0.301197 0 40 61 PCDH8 5100 broad.mit.edu 37 13 53420246 53420246 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr13:53420246G>A uc001vhi.2 - 1 2529 c.2326C>T c.(2326-2328)CGC>TGC p.R776C PCDH8_uc001vhj.2_Missense_Mutation_p.R776C NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 776 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTCTTGCGGCGGTTGCAGGTG 0.617 NaN 0 0 0 0.27861 0 6 44 RBM26 64062 broad.mit.edu 37 13 79945269 79945269 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr13:79945269G>A uc001vkz.2 - 5 459 c.445C>T c.(445-447)CGT>TGT p.R149C RBM26_uc001vky.2_Missense_Mutation_p.R149C|RBM26_uc001vla.2_Missense_Mutation_p.R149C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 149 Arg-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTGCGAGAACGATCATCTTTT 0.383 NaN 0 0 0 0.125774 0 27 23 C14orf106 55320 broad.mit.edu 37 14 45673353 45673353 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:45673353C>T uc001wwf.2 - 17 3817 c.3358G>A c.(3358-3360)GAA>AAA p.E1120K NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 1120 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TCTTTCTCTTCTTCATCTAAA 0.289 NaN 0 0 0 0.204396 0 20 28 SOCS4 122809 broad.mit.edu 37 14 55509991 55509991 + Silent SNP T T C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:55509991T>C uc001xbo.2 + 3 797 c.232T>C c.(232-234)TTA>CTA p.L78L SOCS4_uc001xbp.2_Silent_p.L78L NM_199421 NP_955453 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 78 intracellular signal transduction|negative regulation of signal transduction|regulation of growth ovary(1)|kidney(1) 2 TGAGTTGGACTTAGATCATTC 0.423 NaN 0 0 0 0.323286 0 55 74 SYNE2 23224 broad.mit.edu 37 14 64457725 64457725 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:64457725C>G uc001xgm.2 + 21 2768 c.2538C>G c.(2536-2538)ATC>ATG p.I846M SYNE2_uc001xgl.2_Missense_Mutation_p.I846M NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 846 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTGGACATCAGGCTGAAGA 0.423 NaN 0 0 0 0.248553 0 6 70 SLC8A3 6547 broad.mit.edu 37 14 70518710 70518710 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:70518710G>C uc001xly.2 - 5 2782 c.2028C>G c.(2026-2028)TTC>TTG p.F676L SLC8A3_uc001xlu.2_Missense_Mutation_p.F33L|SLC8A3_uc001xlv.2_Missense_Mutation_p.F47L|SLC8A3_uc001xlw.2_Missense_Mutation_p.F673L|SLC8A3_uc001xlx.2_Missense_Mutation_p.F674L|SLC8A3_uc001xlz.2_Missense_Mutation_p.F670L|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.F33L NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 676 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GCCTGACCTTGAACTCATAGG 0.308 NaN 0 0 0 0.09319 0 12 23 LTBP2 4053 broad.mit.edu 37 14 75052569 75052569 + Missense_Mutation SNP G G A rs143282840 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:75052569G>A uc001xqa.2 - 3 1205 c.818C>T c.(817-819)TCG>TTG p.S273L NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 273 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGCTGGTGGCGACTGTGGTGC 0.647 NaN 0 0 0 0.105934 0 11 29 IFI27 3429 broad.mit.edu 37 14 94582170 94582170 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:94582170G>A uc010tws.1 + 4 353 c.232G>A c.(232-234)GGC>AGC p.G78S IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Silent_p.A58A NM_005532 NP_005523 P40305 IFI27_HUMAN interferon, alpha-inducible protein 27 isoform Error:Variant_position_missing_in_P40305_after_alignment activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway integral to membrane|mitochondrion 0 Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206) GCTTCACTGCGGCGGGAATCG 0.642 NaN 0 0 0 0.217242 0 6 8 KIAA0284 283638 broad.mit.edu 37 14 105349634 105349634 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr14:105349634G>C uc010axb.2 + 8 1064 c.840G>C c.(838-840)AAG>AAC p.K280N INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.K210N|KIAA0284_uc001yps.2_Missense_Mutation_p.K186N NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 280 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GCCCTGGCAAGATGAAGATCA 0.637 NaN 0 0 0 0.058154 0 10 23 RPAP1 26015 broad.mit.edu 37 15 41819472 41819472 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr15:41819472G>A uc001zod.2 - 13 1763 c.1639C>T c.(1639-1641)CGG>TGG p.R547W NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 547 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TAGCGCAGCCGAGGCAGCAGG 0.622 NaN 0 0 0 0.234183 0 20 32 CAPN3 825 broad.mit.edu 37 15 42702003 42702003 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr15:42702003G>A uc001zpn.1 + 18 2317 c.2011G>A c.(2011-2013)GAT>AAT p.D671N CAPN3_uc001zpk.1_Missense_Mutation_p.D438N|CAPN3_uc001zpl.1_Missense_Mutation_p.D578N|CAPN3_uc010udf.1_Missense_Mutation_p.D584N|CAPN3_uc010udg.1_Missense_Mutation_p.D536N|CAPN3_uc001zpo.1_Missense_Mutation_p.D665N|CAPN3_uc001zpp.1_Missense_Mutation_p.D579N|CAPN3_uc001zpq.1_Missense_Mutation_p.D159N|CAPN3_uc010bcv.1_Missense_Mutation_p.D6N|CAPN3_uc001zpr.1_Missense_Mutation_p.D6N|CAPN3_uc001zps.1_Missense_Mutation_p.D6N|CAPN3_uc001zpt.1_Missense_Mutation_p.D6N NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 671 EF-hand 1.|Domain IV. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GATCTGTGCAGATGAGCTCAA 0.537 NaN 0 0 0 0.323286 0 118 129 TGM5 9333 broad.mit.edu 37 15 43552710 43552710 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr15:43552710G>A uc001zrd.1 - 2 86 c.78C>T c.(76-78)ATC>ATT p.I26I TGM5_uc001zre.1_Silent_p.I26I NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 26 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGTCCACAGTGATCTCCTCCG 0.577 NaN 0 0 0 0.323286 0 68 69 FBXO22 26263 broad.mit.edu 37 15 76206519 76206519 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr15:76206519C>G uc002bbk.2 + 4 541 c.436C>G c.(436-438)CTT>GTT p.L146V FBXO22_uc002bbj.1_Missense_Mutation_p.L146V|FBXO22_uc002bbl.2_Missense_Mutation_p.L42V NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 146 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 ATGCCAAGTCCTTGGGATTGT 0.383 NaN 0 0 0 0.249174 0 18 43 PKD1 5310 broad.mit.edu 37 16 2142498 2142498 + Missense_Mutation SNP T T A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:2142498T>A uc002cos.1 - 39 11461 c.11252A>T c.(11251-11253)CAG>CTG p.Q3751L PKD1_uc002cot.1_Missense_Mutation_p.Q3750L|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3751 Polycystin motif.|Extracellular (Potential). Q -> R (in ADPKD1).|Missing (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CAGCCGCACCTGCCGCAGCCG 0.592 NaN 0 0 0 0.080935 0 6 13 C16orf71 146562 broad.mit.edu 37 16 4790239 4790239 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:4790239G>A uc002cxn.2 + 4 824 c.362G>A c.(361-363)AGA>AAA p.R121K NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 121 central_nervous_system(1) 1 CAGGAAGGAAGAGACCCTGGC 0.572 NaN 0 0 0 0.279185 0 38 55 CACNG3 10368 broad.mit.edu 37 16 24372924 24372924 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:24372924C>T uc002dmf.2 + 4 1888 c.688C>T c.(688-690)CGA>TGA p.R230* NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 230 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CTACAGGTATCGATTCCGGAG 0.537 NaN 0 0 0 0.175082 0 15 41 RABEP2 79874 broad.mit.edu 37 16 28935803 28935803 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:28935803C>G uc002drq.2 - 2 243 c.195G>C c.(193-195)GAG>GAC p.E65D uc010vct.1_Intron|RABEP2_uc010vdf.1_Intron|RABEP2_uc010byn.2_Missense_Mutation_p.E65D|RABEP2_uc002drr.2_Missense_Mutation_p.E65D NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 65 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CCTTCGTGCTCTCGCTCACCT 0.647 NaN 0 0 0 0.217242 0 4 88 IRX5 10265 broad.mit.edu 37 16 54965196 54965196 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:54965196C>T uc002ehv.2 + 1 86 c.86C>T c.(85-87)TCG>TTG p.S29L uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.S29L|IRX5_uc002ehw.2_5'Flank NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 29 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 AGCGTCATTTCGGGGCCCCGC 0.682 NaN 0 0 0 0.248553 0 6 11 GNAO1 2775 broad.mit.edu 37 16 56368731 56368731 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:56368731C>G uc002eit.3 + 5 1452 c.555C>G c.(553-555)ATC>ATG p.I185M GNAO1_uc002eiu.3_Missense_Mutation_p.I185M NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 185 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) CCACTGGCATCGTAGAAACCC 0.612 NaN 0 0 0 0.160694 0 16 27 CDH8 1006 broad.mit.edu 37 16 61858917 61858917 + Silent SNP C C T rs148693252 byFrequency TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:61858917C>T uc002eog.1 - 5 1086 c.834G>A c.(832-834)CAG>CAA p.Q278Q CDH8_uc002eoh.2_Silent_p.Q47Q NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 278 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTAACTTACTCTGTGCAAATT 0.353 NaN 0 0 0 0.189662 0 15 23 ATP2C2 9914 broad.mit.edu 37 16 84495721 84495721 + Missense_Mutation SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr16:84495721A>G uc002fhx.2 + 26 2797 c.2708A>G c.(2707-2709)AAC>AGC p.N903S ATP2C2_uc010chj.2_Missense_Mutation_p.N932S|ATP2C2_uc002fhy.2_Missense_Mutation_p.N920S|ATP2C2_uc002fhz.2_Missense_Mutation_p.N752S|ATP2C2_uc002fia.2_Missense_Mutation_p.N214S NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 903 Extracellular (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 CAGACGGAGAACCTGGGAGCG 0.657 NaN 0 0 0 0.069234 0 10 81 ZNF287 57336 broad.mit.edu 37 17 16466508 16466508 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:16466508C>T uc002gqi.2 - 5 1120 c.667G>A c.(667-669)GAA>AAA p.E223K NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 216 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CATGGTTCTTCCAATATGGGA 0.358 NaN 0 0 0 0.214465 0 30 15 C17orf37 84299 broad.mit.edu 37 17 37886006 37886006 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:37886006C>T uc002hsq.2 - 3 236 c.196G>A c.(196-198)GAG>AAG p.E66K NM_032339 NP_115715 Q9BRT3 CQ037_HUMAN hypothetical protein LOC84299 66 cell redox homeostasis cytosol|membrane selenium binding 0 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCTCTATCTCAAAGGCACCT 0.488 NaN 0 0 0 0.323286 0 49 88 TUBG2 27175 broad.mit.edu 37 17 40815491 40815491 + Silent SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:40815491C>G uc010wgr.1 + 6 832 c.576C>G c.(574-576)CTC>CTG p.L192L TUBG2_uc002iaq.2_Silent_p.L34L|TUBG2_uc002iar.2_Silent_p.L39L|TUBG2_uc002ias.2_Silent_p.L34L|TUBG2_uc002iap.2_Silent_p.L39L NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 192 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TCCTGACACTCAAGAGGCTGA 0.383 NaN 0 0 0 0.323286 0 86 111 TEX14 56155 broad.mit.edu 37 17 56651579 56651579 + Nonsense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:56651579C>A uc010dcz.1 - 23 3608 c.3490G>T c.(3490-3492)GAG>TAG p.E1164* TEX14_uc002iwr.1_Nonsense_Mutation_p.E1158*|TEX14_uc002iws.1_Nonsense_Mutation_p.E1118*|TEX14_uc010dda.1_Nonsense_Mutation_p.E898* NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1164 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTGGTGACTCCTTTGATGTC 0.368 NaN 1 0 1.13719e-10 0.134883 1.23736e-10 25 62 KCNH6 81033 broad.mit.edu 37 17 61611651 61611651 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:61611651C>G uc002jay.2 + 5 1160 c.1080C>G c.(1078-1080)ATC>ATG p.I360M KCNH6_uc002jax.1_Missense_Mutation_p.I360M|KCNH6_uc010wpl.1_Missense_Mutation_p.I237M|KCNH6_uc010wpm.1_Missense_Mutation_p.I360M|KCNH6_uc002jaz.1_Missense_Mutation_p.I360M NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 360 Helical; Name=Segment S3; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) ACCTCCTGATCTTCCGCACTG 0.632 NaN 0 0 0 0.294199 0 22 63 SFRS2 6427 broad.mit.edu 37 17 74732295 74732295 + Missense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:74732295C>A uc002jsv.2 - 2 784 c.614G>T c.(613-615)CGA>CTA p.R205L SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R205L|SFRS2_uc010wtg.1_Missense_Mutation_p.R193L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank NM_003016 NP_003007 Q01130 SRSF2_HUMAN splicing factor, arginine/serine-rich 2 205 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity 0 ACTCTTCGATCGCGACCTGGA 0.542 NaN 1 0 9.78306e-22 0.144211 1.09863e-21 29 85 SLC26A11 284129 broad.mit.edu 37 17 78225191 78225191 + Nonsense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr17:78225191G>T uc002jyb.1 + 17 1989 c.1720G>T c.(1720-1722)GAA>TAA p.E574* SLC26A11_uc002jyc.1_Nonsense_Mutation_p.E574*|SLC26A11_uc002jyd.1_Nonsense_Mutation_p.E574*|SLC26A11_uc010dhv.1_Nonsense_Mutation_p.E574* NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 574 Extracellular (Potential).|STAS. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTCTACCCTGGAAGAAGCAGG 0.458 NaN 1 0 1.12875e-08 0.116897 1.20938e-08 25 83 EMILIN2 84034 broad.mit.edu 37 18 2891297 2891297 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr18:2891297C>T uc002kln.2 + 4 1331 c.1172C>T c.(1171-1173)TCA>TTA p.S391L NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 391 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CAGGAGCCTTCAGCCCAGGCA 0.488 NaN 0 0 0 0.294199 0 27 34 C18orf25 147339 broad.mit.edu 37 18 43796552 43796552 + Nonsense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr18:43796552G>T uc002lbw.2 + 2 1085 c.706G>T c.(706-708)GAG>TAG p.E236* C18orf25_uc002lbx.2_Nonsense_Mutation_p.E236* NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 236 central_nervous_system(2) 2 AATCACTGCAGAGATACCAGG 0.433 NaN 1 0 0.000442599 0.058154 0.000449014 9 17 DENND1C 79958 broad.mit.edu 37 19 6476930 6476930 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:6476930C>T uc002mfe.2 - 10 708 c.616G>A c.(616-618)GGG>AGG p.G206R DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.G162R NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 206 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 GCGAACAGCCCCACGATGTTC 0.672 NaN 0 0 0 0.27861 0 7 35 IL27RA 9466 broad.mit.edu 37 19 14159887 14159887 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:14159887G>T uc002mxx.2 + 9 1659 c.1236G>T c.(1234-1236)GAG>GAT p.E412D NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 412 Extracellular (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GGTTCAGGGAGGAATTAGGTA 0.602 NaN OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.23904e-05 0.184627 1.27548e-05 5 66 CEACAM5 1048 broad.mit.edu 37 19 42222226 42222226 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:42222226G>A uc002ork.2 + 6 1538 c.1417G>A c.(1417-1419)GGA>AGA p.G473R CEACAM5_uc002orj.1_Missense_Mutation_p.G472R|CEACAM5_uc002orl.2_Missense_Mutation_p.G473R NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 473 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GAAGAACAGCGGACTCTATAC 0.502 NaN 0 0 0 0.150653 0 4 79 CLPTM1 1209 broad.mit.edu 37 19 45496010 45496010 + Missense_Mutation SNP C C T rs141261045 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:45496010C>T uc002pai.2 + 14 1880 c.1865C>T c.(1864-1866)ACG>ATG p.T622M CLPTM1_uc010xxf.1_Missense_Mutation_p.T520M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T608M NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 622 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GGGGCCCTCACGCCCACACCT 0.711 NaN 0 0 0 0.217242 0 6 70 PRR12 57479 broad.mit.edu 37 19 50102618 50102618 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:50102618G>A uc002poo.3 + 5 3768 c.3768G>A c.(3766-3768)TCG>TCA p.S1256S NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 435 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCTGGACTCGAGCCTGACTC 0.567 NaN 0 0 0 0.217242 0 6 34 ZNF432 9668 broad.mit.edu 37 19 52537344 52537344 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:52537344C>T uc002pyk.2 - 5 1906 c.1588G>A c.(1588-1590)GTA>ATA p.V530I NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 530 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGCTGGTGTACAACAAGATTG 0.413 NaN 0 0 0 0.301197 0 44 108 ZNF534 147658 broad.mit.edu 37 19 52942411 52942411 + Silent SNP G G A rs113700997 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:52942411G>A uc002pzk.2 + 4 1798 c.1737G>A c.(1735-1737)GCG>GCA p.A579A ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 579 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACACCTTGCGCGACATAGGA 0.443 NaN 0 0 0 0.115264 0 3 25 ZNF765 91661 broad.mit.edu 37 19 53911005 53911005 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:53911005G>C uc010ydx.1 + 6 524 c.197G>C c.(196-198)AGA>ACA p.R66T ZNF765_uc002qbm.2_Missense_Mutation_p.R66T|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) CAAGGCAATAGAGAAGTGTTC 0.358 NaN 0 0 0 0.279185 0 38 57 LILRB2 10288 broad.mit.edu 37 19 54783434 54783434 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:54783434G>T uc002qfb.2 - 5 690 c.424C>A c.(424-426)CTC>ATC p.L142I LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L142I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L142I|LILRB2_uc010yet.1_Missense_Mutation_p.L26I|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 142 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACACTGGAGGGTCACCCTT 0.582 NaN 1 0 4.26978e-12 0.279207 4.67007e-12 22 146 PTPRH 5794 broad.mit.edu 37 19 55716720 55716720 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:55716720G>C uc002qjq.2 - 4 666 c.593C>G c.(592-594)TCC>TGC p.S198C PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.S205C NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 198 Fibronectin type-III 2.|Extracellular (Potential). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGTCTCCCGGGAGCTGTTGAT 0.507 NaN 0 0 0 0.27861 0 8 159 ZNF470 388566 broad.mit.edu 37 19 57089446 57089446 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr19:57089446C>T uc002qnl.3 + 6 2325 c.1649C>T c.(1648-1650)GCA>GTA p.A550V ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 550 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AGTCAGATTGCACACCTTGTT 0.448 NaN 0 0 0 0.144211 0 29 64 GEN1 348654 broad.mit.edu 37 2 17941319 17941319 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:17941319G>A uc002rct.2 + 2 182 c.109G>A c.(109-111)GAG>AAG p.E37K SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E37K|GEN1_uc002rcu.2_Missense_Mutation_p.E37K NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 37 N-domain. DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGGGTGTGTGAGGCACAGAC 0.433 NaN Homologous_recombination 0 0 0 0.080935 0 11 85 PREPL 9581 broad.mit.edu 37 2 44548554 44548554 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:44548554C>G uc002ruf.2 - 14 2160 c.2125G>C c.(2125-2127)GAA>CAA p.E709Q PREPL_uc002rug.2_Missense_Mutation_p.E643Q|PREPL_uc002ruh.2_Missense_Mutation_p.E647Q|PREPL_uc010fax.2_Missense_Mutation_p.E709Q|PREPL_uc002rui.3_Missense_Mutation_p.E620Q|PREPL_uc002ruj.1_Missense_Mutation_p.E620Q|PREPL_uc002ruk.1_Missense_Mutation_p.E709Q NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 709 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGTCCAAGTTCCTCGTACAGG 0.348 NaN 0 0 0 0.324025 0 24 12 CIAO1 9391 broad.mit.edu 37 2 96933152 96933152 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:96933152C>T uc002svs.2 + 2 438 c.233C>T c.(232-234)TCT>TTT p.S78F TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 78 WD 2. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 TACCTGGCCTCTGCCAGCTTT 0.547 NaN 0 0 0 0.160694 0 13 120 SCN1A 6323 broad.mit.edu 37 2 166908238 166908238 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:166908238G>C uc010zcz.1 - 6 973 c.955C>G c.(955-957)CAA>GAA p.Q319E SCN1A_uc002udo.3_Missense_Mutation_p.Q188E|SCN1A_uc010fpk.2_Missense_Mutation_p.Q188E NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 319 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTTGAATCTTGAATATATGAC 0.174 NaN 0 0 0 0.217242 0 5 21 AGPS 8540 broad.mit.edu 37 2 178362475 178362475 + Silent SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:178362475A>G uc002ull.2 + 13 1391 c.1344A>G c.(1342-1344)AAA>AAG p.K448K AGPS_uc010zfb.1_Silent_p.K358K NM_003659 NP_003650 O00116 ADAS_HUMAN alkyldihydroxyacetone phosphate synthase 448 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) ACGGATTAAAAAAGTTTTATA 0.279 NaN 0 0 0 0.058154 0 8 5 NCKAP1 10787 broad.mit.edu 37 2 183868005 183868005 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:183868005G>C uc002upc.2 - 3 670 c.268C>G c.(268-270)CTG>GTG p.L90V NCKAP1_uc002upb.2_Missense_Mutation_p.L96V NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 90 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TATAATGCCAGATTTTTCAGA 0.254 NaN 0 0 0 0.27861 0 7 31 STK36 27148 broad.mit.edu 37 2 219549924 219549924 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:219549924G>C uc002viu.2 + 11 1619 c.1353G>C c.(1351-1353)CAG>CAC p.Q451H STK36_uc002viv.2_Missense_Mutation_p.Q451H NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 451 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) AGCGCATCCAGAGTCAGCTGC 0.507 NaN 0 0 0 0.204396 0 17 42 CHRNG 1146 broad.mit.edu 37 2 233409214 233409214 + Silent SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr2:233409214C>G uc002vsx.1 + 10 1194 c.1173C>G c.(1171-1173)CTC>CTG p.L391L CHRNG_uc010fye.1_Silent_p.L339L NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 391 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AGGTGGCCCTCTGCCTGCCTC 0.662 NaN 0 0 0 0.323286 0 55 23 SERINC3 10955 broad.mit.edu 37 20 43139962 43139962 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr20:43139962G>C uc002xme.2 - 4 577 c.443C>G c.(442-444)TCT>TGT p.S148C SERINC3_uc002xmf.1_Missense_Mutation_p.S148C|SERINC3_uc010ggs.1_Missense_Mutation_p.S141C|SERINC3_uc010zwp.1_Missense_Mutation_p.S93C NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 148 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GATGTAGAAAGAGCCAACCAT 0.353 NaN 0 0 0 0.279207 0 20 22 ZNF334 55713 broad.mit.edu 37 20 45132865 45132865 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr20:45132865G>C uc002xsc.2 - 4 413 c.229C>G c.(229-231)CAG>GAG p.Q77E ZNF334_uc002xsa.2_Missense_Mutation_p.Q100E|ZNF334_uc002xsb.2_Missense_Mutation_p.Q39E|ZNF334_uc002xsd.2_Missense_Mutation_p.Q39E|ZNF334_uc010ghl.2_Missense_Mutation_p.Q76E NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 77 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GGGTAGTTCTGATTTGAGAAT 0.408 NaN 0 0 0 0.204396 0 16 25 TRPM2 7226 broad.mit.edu 37 21 45861676 45861676 + Silent SNP C C T rs147981149 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr21:45861676C>T uc002zet.1 + 33 4701 c.4488C>T c.(4486-4488)GCC>GCT p.A1496A TRPM2_uc002zeu.1_Silent_p.A1496A|TRPM2_uc002zew.1_Silent_p.A1496A|TRPM2_uc010gpt.1_Silent_p.A1546A|TRPM2_uc002zex.1_Silent_p.A1282A|TRPM2_uc002zey.1_Silent_p.A975A|TRPM2_uc011aff.1_Silent_p.A177A NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1496 Nudix hydrolase.|Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGAAGGCAGCCGCTGAGTTCG 0.642 NaN 0 0 0 0.26419 0 21 20 CYTSA 23384 broad.mit.edu 37 22 24720319 24720319 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr22:24720319C>G uc002zzw.2 + 6 2377 c.2070C>G c.(2068-2070)ATC>ATG p.I690M CYTSA_uc002zzv.3_Missense_Mutation_p.I690M|CYTSA_uc011ajq.1_Missense_Mutation_p.I690M NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 690 Potential. cell cycle|cell division 0 AAGAAACCATCTTTGAACTTG 0.328 NaN 0 0 0 0.204396 0 18 28 NOL12 79159 broad.mit.edu 37 22 38084997 38084997 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr22:38084997G>A uc003atp.2 + 4 435 c.379G>A c.(379-381)GAG>AAG p.E127K NOL12_uc011anm.1_Missense_Mutation_p.E127K|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR NM_024313 NP_077289 Q9UGY1 NOL12_HUMAN nucleolar protein 12 127 nucleolus rRNA binding 0 Melanoma(58;0.0574) GACCCCACCTGAGGTGGGTCC 0.657 NaN 0 0 0 0.144211 0 27 72 ATF4 468 broad.mit.edu 37 22 39918553 39918553 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr22:39918553G>A uc003axz.2 + 3 1282 c.1002G>A c.(1000-1002)CTG>CTA p.L334L ATF4_uc011aol.1_Silent_p.L246L|ATF4_uc003aya.2_Silent_p.L334L NM_182810 NP_877962 P18848 ATF4_HUMAN activating transcription factor 4 334 Leucine-zipper.|Interaction with GABBR1 (By similarity).| cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Melanoma(58;0.04) TCCAGTACCTGAAAGATTTGA 0.512 NaN 0 0 0 0.115264 0 3 17 MPPED1 758 broad.mit.edu 37 22 43831096 43831096 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr22:43831096G>T uc011apv.1 + 3 590 c.367G>T c.(367-369)GGG>TGG p.G123W MPPED1_uc011apw.1_Missense_Mutation_p.G17W|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.G123W|MPPED1_uc011apz.1_Missense_Mutation_p.G156W NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 123 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CACTGAGCTGGGGCTCCCGAG 0.667 NaN 1 0 3.52763e-06 0.160694 3.68559e-06 17 35 CAPN7 23473 broad.mit.edu 37 3 15283750 15283750 + Silent SNP T T G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:15283750T>G uc003bzn.2 + 16 2124 c.1854T>G c.(1852-1854)GTT>GTG p.V618V NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 618 Domain III. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 GGAAAAAAGTTTATTACCCAG 0.279 NaN 0 0 0 0.27861 0 8 48 ZNF501 115560 broad.mit.edu 37 3 44776196 44776196 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:44776196C>T uc003cnu.1 + 3 684 c.283C>T c.(283-285)CAG>TAG p.Q95* ZNF501_uc003cnv.1_Nonsense_Mutation_p.Q95* NM_145044 NP_659481 Q96CX3 ZN501_HUMAN zinc finger protein 501 95 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) AATTCTTGTTCAGCATCTGAG 0.368 NaN 0 0 0 0.324025 0 22 92 MAGI1 9223 broad.mit.edu 37 3 65367599 65367599 + Missense_Mutation SNP T T C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:65367599T>C uc003dmn.2 - 16 3180 c.2654A>G c.(2653-2655)AAG>AGG p.K885R MAGI1_uc003dmm.2_Missense_Mutation_p.K913R|MAGI1_uc003dmo.2_Missense_Mutation_p.K913R|MAGI1_uc003dmp.2_Missense_Mutation_p.K885R|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.K196R NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 913 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTGGCCTTGCTTGGCAGCTTG 0.483 NaN 0 0 0 0.116897 0 27 33 PHLDB2 90102 broad.mit.edu 37 3 111685499 111685499 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:111685499G>C uc010hqa.2 + 14 3528 c.3117G>C c.(3115-3117)GAG>GAC p.E1039D PHLDB2_uc003dyc.2_Missense_Mutation_p.E1023D|PHLDB2_uc003dyd.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1039D|PHLDB2_uc003dyh.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyi.2_Missense_Mutation_p.E530D|PHLDB2_uc003dyj.2_Missense_Mutation_p.E94D NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1039 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AAGAAATGGAGAGACTTTTGA 0.418 NaN 0 0 0 0.323286 0 47 40 C3orf17 25871 broad.mit.edu 37 3 112724558 112724558 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:112724558C>G uc003dzr.2 - 9 1590 c.1529G>C c.(1528-1530)GGA>GCA p.G510A GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.G135A|C3orf17_uc011bhz.1_Missense_Mutation_p.G135A|C3orf17_uc010hqh.2_Missense_Mutation_p.G135A|C3orf17_uc003dzt.2_Missense_Mutation_p.G413A|C3orf17_uc003dzs.2_Missense_Mutation_p.G374A|C3orf17_uc010hqg.2_Missense_Mutation_p.G335A|C3orf17_uc011bia.1_Missense_Mutation_p.G307A|C3orf17_uc003dzu.2_Missense_Mutation_p.G439A|C3orf17_uc011bib.1_Missense_Mutation_p.G399A|C3orf17_uc011bic.1_Missense_Mutation_p.G343A|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 510 integral to membrane 0 CATTGAAACTCCACTATTCAA 0.413 NaN 0 0 0 0.26419 0 19 75 ATP6V1A 523 broad.mit.edu 37 3 113499971 113499971 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:113499971G>C uc003eao.2 + 3 223 c.157G>C c.(157-159)GAG>CAG p.E53Q ATP6V1A_uc011bik.1_Missense_Mutation_p.E20Q NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 53 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 ATTGGTTGGAGAGATTATTCG 0.433 NaN 0 0 0 0.323286 0 62 60 PLA1A 51365 broad.mit.edu 37 3 119327641 119327641 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:119327641G>C uc003ecu.2 + 3 339 c.300G>C c.(298-300)TGG>TGC p.W100C PLA1A_uc003ecv.2_Missense_Mutation_p.W100C|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 100 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 AGCCTTCCTGGATTGACACAT 0.423 NaN 0 0 0 0.279185 0 34 113 CPA3 1359 broad.mit.edu 37 3 148601417 148601417 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:148601417G>A uc003ewm.2 + 9 848 c.796G>A c.(796-798)GAC>AAC p.D266N NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 266 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAACACCAATGACCCATGTGC 0.458 NaN 0 0 0 0.150653 0 4 69 LRRC31 79782 broad.mit.edu 37 3 169558008 169558008 + Missense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:169558008C>A uc003fgc.1 - 9 1498 c.1421G>T c.(1420-1422)TGC>TTC p.C474F LRRC31_uc010hwp.1_Missense_Mutation_p.C418F NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 474 LRR 9. ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CACGTTTTGGCAGAACATGGT 0.468 NaN 1 0 4.3838e-07 0.105934 4.62612e-07 12 73 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.069234 0 10 42 USP13 8975 broad.mit.edu 37 3 179458119 179458119 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:179458119G>A uc003fkh.2 + 11 1420 c.1339G>A c.(1339-1341)GAT>AAT p.D447N USP13_uc003fkf.2_Missense_Mutation_p.D447N NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 447 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CAGGCAGCAAGATGCCCAGGA 0.507 NaN 0 0 0 0.249174 0 21 80 DNAJB11 51726 broad.mit.edu 37 3 186289895 186289895 + Missense_Mutation SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:186289895A>G uc003fqi.2 + 2 300 c.80A>G c.(79-81)TAT>TGT p.Y27C TBCCD1_uc011bry.1_5'Flank|TBCCD1_uc003fqh.2_5'Flank NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 27 J. protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) CGAGATTTCTATAAGATCTTG 0.393 NaN 0 0 0 0.214465 0 29 22 TMEM44 93109 broad.mit.edu 37 3 194309273 194309273 + Silent SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr3:194309273C>G uc010hzn.2 - 11 1582 c.1413G>C c.(1411-1413)CTG>CTC p.L471L TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Silent_p.L156L|TMEM44_uc003fue.2_Silent_p.L424L|TMEM44_uc003fud.2_Silent_p.L435L|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Silent_p.L434L|uc003fug.2_5'Flank NM_001011655 NP_001011655 Q2T9K0 TMM44_HUMAN transmembrane protein 44 isoform b 471 Cytoplasmic (Potential). integral to membrane 0 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) CATCATCACTCAGGTGTGCTG 0.532 NaN 0 0 0 0.268233 0 40 38 EVC2 132884 broad.mit.edu 37 4 5633750 5633750 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:5633750C>G uc003gij.2 - 11 1534 c.1480G>C c.(1480-1482)GAG>CAG p.E494Q EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.E414Q NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 494 Potential. integral to membrane large_intestine(3)|ovary(2) 5 TTGCTGCACTCTACAGCAGAC 0.398 NaN 0 0 0 0.058154 0 8 47 TBC1D1 23216 broad.mit.edu 37 4 38091654 38091654 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:38091654C>T uc003gtb.2 + 13 2495 c.2152C>T c.(2152-2154)CGT>TGT p.R718C TBC1D1_uc011byd.1_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.2_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 718 nucleus Rab GTPase activator activity ovary(1) 1 AAGGACATCTCGTGAGCTCCG 0.488 NaN 0 0 0 0.160694 0 17 52 GABRA4 2557 broad.mit.edu 37 4 46979532 46979532 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:46979532G>A uc003gxg.2 - 4 528 c.389C>T c.(388-390)CCT>CTT p.P130L NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 130 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAAGTATCAGGGGTCCACAC 0.348 NaN 0 0 0 0.144211 0 32 33 CLGN 1047 broad.mit.edu 37 4 141327104 141327104 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:141327104C>G uc011chi.1 - 6 629 c.411G>C c.(409-411)TTG>TTC p.L137F CLGN_uc003iii.2_Missense_Mutation_p.L137F NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 137 Lumenal (Potential). protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) ACTGAACTATCAAGGGTTTAT 0.333 NaN 0 0 0 0.069234 0 8 49 ZNF827 152485 broad.mit.edu 37 4 146824287 146824287 + Nonsense_Mutation SNP C C A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:146824287C>A uc003ikn.2 - 2 172 c.124G>T c.(124-126)GAA>TAA p.E42* ZNF827_uc003ikm.2_Nonsense_Mutation_p.E42*|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) TAGGATGCTTCTGACGGAGTC 0.532 NaN 1 0 1.3612e-06 0.132662 1.42926e-06 11 93 NR3C2 4306 broad.mit.edu 37 4 149073667 149073667 + Silent SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:149073667A>G uc003ilj.3 - 6 2797 c.2463T>C c.(2461-2463)CAT>CAC p.H821H NR3C2_uc003ilk.3_Silent_p.H704H|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 821 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) GGCTGTTCGTATGTTTGTACG 0.368 NaN 0 0 0 0.27861 0 7 81 DCLK2 166614 broad.mit.edu 37 4 151141909 151141909 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr4:151141909G>T uc003ilm.3 + 6 1211 c.1111G>T c.(1111-1113)GAC>TAC p.D371Y DCLK2_uc003iln.3_Missense_Mutation_p.D370Y|DCLK2_uc003ilo.3_Missense_Mutation_p.D388Y|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 371 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) ACCTGAGCTTGACCGTTGCAT 0.413 NaN 1 0 1.76689e-08 0.058154 1.88349e-08 8 18 MARCH11 441061 broad.mit.edu 37 5 16067594 16067594 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:16067594C>T uc003jfo.2 - 4 1408 c.1195G>A c.(1195-1197)GTG>ATG p.V399M MARCH11_uc010itw.1_Missense_Mutation_p.V155M NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 399 PDZ-binding. cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 ACTGAAGTCACTCTCATCACA 0.443 NaN 0 0 0 0.323286 0 136 155 BDP1 55814 broad.mit.edu 37 5 70806316 70806316 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:70806316G>A uc003kbp.1 + 17 3660 c.3397G>A c.(3397-3399)GAG>AAG p.E1133K BDP1_uc003kbn.1_Missense_Mutation_p.E1133K|BDP1_uc003kbo.2_Missense_Mutation_p.E1133K NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1133 6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAAGACACCAGAGGTGATTGA 0.478 NaN 0 0 0 0.234183 0 19 59 HSD17B4 3295 broad.mit.edu 37 5 118814608 118814608 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:118814608C>G uc003ksj.2 + 8 637 c.514C>G c.(514-516)CTG>GTG p.L172V HSD17B4_uc011cwg.1_Missense_Mutation_p.L148V|HSD17B4_uc011cwh.1_Missense_Mutation_p.L154V|HSD17B4_uc011cwi.1_Missense_Mutation_p.L197V|HSD17B4_uc003ksk.3_Missense_Mutation_p.L25V|HSD17B4_uc011cwj.1_Missense_Mutation_p.L25V|HSD17B4_uc010jcn.1_5'UTR NM_000414 NP_000405 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 172 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity ovary(1)|pancreas(1) 2 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GTTGGGTCTTCTGGGCCTTGC 0.408 NaN 0 0 0 0.246493 0 38 71 PCDHA7 56141 broad.mit.edu 37 5 140214295 140214295 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:140214295C>T uc003lhq.2 + 1 327 c.327C>T c.(325-327)ATC>ATT p.I109I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.I109I NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 109 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGGTGATCGTGGAAAGGC 0.552 NaN 0 0 0 0.163468 0 29 214 DOCK2 1794 broad.mit.edu 37 5 169494533 169494533 + Missense_Mutation SNP A A T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:169494533A>T uc003maf.2 + 45 4567 c.4487A>T c.(4486-4488)GAG>GTG p.E1496V DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E988V|DOCK2_uc003mah.2_Missense_Mutation_p.E52V NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1496 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTCCTCTGGAGAATGCCATA 0.418 NaN 0 0 0 0.219247 0 20 41 COL11A2 1302 broad.mit.edu 37 6 33144976 33144976 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:33144976G>A uc003ocx.1 - 24 2226 c.1998C>T c.(1996-1998)ATC>ATT p.I666I COL11A2_uc010jul.1_Missense_Mutation_p.S46L|COL11A2_uc003ocy.1_Silent_p.I580I|COL11A2_uc003ocz.1_Silent_p.I559I NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 666 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CATGAGGGCCGATGGCACCCT 0.547 NaN 0 0 0 0.193644 0 30 33 UHRF1BP1 54887 broad.mit.edu 37 6 34825934 34825934 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:34825934G>C uc003oju.3 + 14 2035 c.1801G>C c.(1801-1803)GAG>CAG p.E601Q UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 601 ovary(3) 3 AGAGCGGGCAGAGTTGCATCG 0.473 NaN 0 0 0 0.214465 0 35 46 UHRF1BP1 54887 broad.mit.edu 37 6 34826146 34826146 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:34826146G>A uc003oju.3 + 14 2247 c.2013G>A c.(2011-2013)CAG>CAA p.Q671Q UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 671 ovary(3) 3 ATGCCTTTCAGATGGATTCCT 0.488 NaN 0 0 0 0.323286 0 41 70 UHRF1BP1 54887 broad.mit.edu 37 6 34826515 34826515 + Silent SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:34826515G>A uc003oju.3 + 14 2616 c.2382G>A c.(2380-2382)CTG>CTA p.L794L UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 794 ovary(3) 3 TGGAAATTCTGAAAGAAGGCA 0.493 NaN 0 0 0 0.323286 0 77 79 MDN1 23195 broad.mit.edu 37 6 90398348 90398348 + Missense_Mutation SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:90398348A>G uc003pnn.1 - 66 11319 c.11203T>C c.(11203-11205)TCA>CCA p.S3735P NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3735 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACAGCCTCTGAGAAACCTTGA 0.537 NaN 0 0 0 0.307466 0 8 16 TULP4 56995 broad.mit.edu 37 6 158923390 158923390 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:158923390G>A uc003qrf.2 + 13 4052 c.2695G>A c.(2695-2697)GAG>AAG p.E899K TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 899 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAACGTGGAGGAGGTGTGCCG 0.642 NaN 0 0 0 0.323286 0 47 72 ADAP1 11033 broad.mit.edu 37 7 938746 938746 + Silent SNP C C T rs146090079 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:938746C>T uc003sjo.3 - 10 1196 c.1020G>A c.(1018-1020)ACG>ACA p.T340T ADAP1_uc003sjm.3_Silent_p.T166T|ADAP1_uc011jvs.1_Silent_p.T245T|ADAP1_uc003sjn.3_Silent_p.T268T|ADAP1_uc010ksc.2_Silent_p.T268T NM_006869 NP_006860 O75689 ADAP1_HUMAN centaurin, alpha 1 340 PH 2. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding upper_aerodigestive_tract(1) 1 GGTCGGACTCCGTCTCGCAGG 0.597 NaN 0 0 0 0.268233 0 39 63 DAGLB 221955 broad.mit.edu 37 7 6449968 6449968 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:6449968C>G uc003sqa.2 - 14 1783 c.1613G>C c.(1612-1614)GGA>GCA p.G538A DAGLB_uc003spy.2_Missense_Mutation_p.G84A|DAGLB_uc003spz.2_Missense_Mutation_p.G235A|DAGLB_uc011jwt.1_Missense_Mutation_p.G352A|DAGLB_uc011jwu.1_Missense_Mutation_p.G409A|DAGLB_uc003sqb.2_Missense_Mutation_p.G257A|DAGLB_uc003sqc.2_Missense_Mutation_p.G257A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.G497A NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 538 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) GTTGGGGTTTCCTCCAAACAG 0.592 NaN 0 0 0 0.257332 0 36 56 DNAH11 8701 broad.mit.edu 37 7 21932046 21932046 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:21932046G>A uc003svc.2 + 78 12563 c.12532G>A c.(12532-12534)GAA>AAA p.E4178K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4178 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GTTCAAGACTGAAGATGAACT 0.478 NaN Kartagener_syndrome 0 0 0 0.323286 0 124 215 UBE2D4 51619 broad.mit.edu 37 7 43982600 43982600 + Silent SNP T T C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:43982600T>C uc003tja.1 + 4 253 c.168T>C c.(166-168)TTT>TTC p.F56F POLR2J4_uc003tjc.2_RNA|UBE2D4_uc003tjb.1_Silent_p.F18F NM_015983 NP_057067 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) 56 protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity 0 CCATCCACTTTCCTACAGATT 0.507 NaN 0 0 0 0.323286 0 64 90 NPC1L1 29881 broad.mit.edu 37 7 44573141 44573141 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:44573141C>T uc003tlb.2 - 8 2354 c.2298G>A c.(2296-2298)ATG>ATA p.M766I NPC1L1_uc003tlc.2_Missense_Mutation_p.M766I|NPC1L1_uc011kbw.1_Missense_Mutation_p.M766I|NPC1L1_uc003tld.2_3'UTR NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 766 Extracellular (Potential).|SSD. cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GCACAGCTGGCATGGGGGTCA 0.632 NaN 0 0 0 0.27861 0 8 90 PKD1L1 168507 broad.mit.edu 37 7 47884664 47884664 + Silent SNP G G A rs140257069 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:47884664G>A uc003tny.1 - 33 5166 c.5166C>T c.(5164-5166)CTC>CTT p.L1722L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1722 Extracellular (Potential).|GPS. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CGAATGCCGCGAGGCGATGGT 0.463 NaN 0 0 0 0.183431 0 27 31 PSPH 5723 broad.mit.edu 37 7 56079478 56079478 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:56079478G>T uc003trg.2 - 7 1018 c.655C>A c.(655-657)CTG>ATG p.L219M PSPH_uc003trh.2_Missense_Mutation_p.L219M|PSPH_uc003tri.2_Missense_Mutation_p.L219M|PSPH_uc003trj.2_Missense_Mutation_p.L248M NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 219 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCTCCCAGCAGCTCTACAAAA 0.378 NaN 1 0 3.28513e-13 0.294199 3.63093e-13 22 122 RABGEF1 27342 broad.mit.edu 37 7 66273984 66273984 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:66273984G>A uc011kee.1 + 9 1395 c.1231G>A c.(1231-1233)GAG>AAG p.E411K RABGEF1_uc003tvf.2_Missense_Mutation_p.E270K|RABGEF1_uc003tvg.2_Missense_Mutation_p.E205K|RABGEF1_uc010lag.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvh.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvi.2_Missense_Mutation_p.E231K NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 614 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 GCAAGAAGCTGAGAGTTGGTC 0.453 NaN 0 0 0 0.294199 0 25 15 RABGEF1 27342 broad.mit.edu 37 7 66274059 66274059 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:66274059G>C uc011kee.1 + 9 1470 c.1306G>C c.(1306-1308)GAA>CAA p.E436Q RABGEF1_uc003tvf.2_Missense_Mutation_p.E295Q|RABGEF1_uc003tvg.2_Missense_Mutation_p.E230Q|RABGEF1_uc010lag.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvh.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvi.2_Missense_Mutation_p.E256Q NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 639 Potential. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 TCAGTTGAATGAACGACAAGA 0.428 NaN 0 0 0 0.175082 0 18 32 ZNF655 79027 broad.mit.edu 37 7 99170613 99170613 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:99170613G>C uc003urh.2 + 3 1275 c.882G>C c.(880-882)AAG>AAC p.K294N ZNF655_uc010lga.2_Missense_Mutation_p.K329N|ZNF655_uc010lgc.2_Missense_Mutation_p.K329N|ZNF655_uc003urj.2_Missense_Mutation_p.K294N|ZNF655_uc003urk.2_Missense_Mutation_p.K131N|ZNF655_uc010lgd.2_Missense_Mutation_p.K131N NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 294 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) TTCAGCATAAGAAAATTCACA 0.383 NaN 0 0 0 0.125774 0 30 66 STAG3 10734 broad.mit.edu 37 7 99798542 99798542 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:99798542G>T uc003utx.1 + 19 2166 c.2011G>T c.(2011-2013)GTA>TTA p.V671L STAG3_uc010lgs.1_Missense_Mutation_p.V459L|STAG3_uc011kjk.1_Missense_Mutation_p.V613L|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 671 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCCAGCTAGTAGATTTGCT 0.592 NaN 1 0 2.31682e-05 0.132662 2.37333e-05 10 67 MUC17 140453 broad.mit.edu 37 7 100683101 100683101 + Missense_Mutation SNP A A G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:100683101A>G uc003uxp.1 + 3 8457 c.8404A>G c.(8404-8406)ACC>GCC p.T2802A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2802 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCATGCCAACCTCAACTCC 0.493 NaN 0 0 0 0.323286 0 109 388 EPHB6 2051 broad.mit.edu 37 7 142567654 142567654 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:142567654G>C uc011kst.1 + 17 3329 c.2542G>C c.(2542-2544)GGG>CGG p.G848R EPHB6_uc011ksu.1_Missense_Mutation_p.G848R|EPHB6_uc003wbs.2_Missense_Mutation_p.G556R|EPHB6_uc003wbt.2_Missense_Mutation_p.G322R|EPHB6_uc003wbu.2_Missense_Mutation_p.G556R|EPHB6_uc003wbv.2_Missense_Mutation_p.G232R NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 848 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CTGGAGCTTTGGGATACTCAT 0.522 NaN 0 0 0 0.134883 0 24 28 MLL3 58508 broad.mit.edu 37 7 151879673 151879673 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr7:151879673G>A uc003wla.2 - 36 5491 c.5272C>T c.(5272-5274)CGT>TGT p.R1758C MLL3_uc003wkz.2_Missense_Mutation_p.R819C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1758 Potential.|Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CTTTTCTGACGCATTTGCTAT 0.294 NaN N medulloblastoma 0 0 0 0.144211 0 28 59 CSMD1 64478 broad.mit.edu 37 8 3265577 3265577 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:3265577C>T uc011kwk.1 - 14 2308 c.1918G>A c.(1918-1920)GCG>ACG p.A640T CSMD1_uc011kwj.1_Missense_Mutation_p.A32T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 640 Extracellular (Potential).|CUB 4. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCTTGACCGCGAGAAAGTCA 0.453 NaN 0 0 0 0.307466 0 6 32 CHMP7 91782 broad.mit.edu 37 8 23112846 23112846 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:23112846C>T uc003xdc.2 + 4 1206 c.558C>T c.(556-558)CTC>CTT p.L186L CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN CHMP family, member 7 186 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity 0 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCAGCACCCTCTGTGCTAACT 0.582 NaN 0 0 0 0.125774 0 28 41 PPP2R2A 5520 broad.mit.edu 37 8 26227900 26227900 + Silent SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:26227900C>T uc003xeu.2 + 10 1617 c.1315C>T c.(1315-1317)CTG>TTG p.L439L PPP2R2A_uc003xek.2_Silent_p.L440L|PPP2R2A_uc011laf.1_Silent_p.L449L NM_002717 NP_002708 P63151 2ABA_HUMAN alpha isoform of regulatory subunit B55, protein 439 WD 7. protein dephosphorylation|signal transduction protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity ovary(1)|kidney(1) 2 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) TACAAACAATCTGTATATATT 0.393 NaN 0 0 0 0.193644 0 29 50 PREX2 80243 broad.mit.edu 37 8 69030877 69030877 + Nonsense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:69030877C>G uc003xxv.1 + 27 3446 c.3419C>G c.(3418-3420)TCA>TGA p.S1140* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1140 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 GAAATGGACTCAGGTGTGTTC 0.418 NaN 0 0 0 0.323286 0 44 49 UBR5 51366 broad.mit.edu 37 8 103373850 103373850 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:103373850G>C uc003ykr.1 - 2 100 c.67C>G c.(67-69)CGA>GGA p.R23G UBR5_uc003yks.1_Missense_Mutation_p.R23G NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 23 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GAAACTTCTCGTAACCTTTAA 0.264 NaN 0 0 0 0.217242 0 5 62 EXOSC4 54512 broad.mit.edu 37 8 145134859 145134859 + Missense_Mutation SNP G G T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr8:145134859G>T uc003zau.2 + 2 295 c.185G>T c.(184-186)CGG>CTG p.R62L GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 62 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGGGCTCCCGGGCTCGAGCC 0.612 NaN 1 0 4.67007e-22 0.268233 5.27265e-22 34 123 NAA35 60560 broad.mit.edu 37 9 88611429 88611429 + Missense_Mutation SNP A A T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr9:88611429A>T uc004aoi.3 + 12 1130 c.993A>T c.(991-993)AGA>AGT p.R331S NAA35_uc004aoj.3_Missense_Mutation_p.R331S NM_024635 NP_078911 Q5VZE5 NAA35_HUMAN corneal wound healing-related protein 331 smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane skin(2)|central_nervous_system(1) 3 ATTTTGCAAGATTAATAGATA 0.353 NaN 0 0 0 0.246493 0 40 19 GAPVD1 26130 broad.mit.edu 37 9 128113141 128113141 + Missense_Mutation SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr9:128113141G>C uc010mwx.2 + 23 3939 c.3613G>C c.(3613-3615)GAG>CAG p.E1205Q GAPVD1_uc004bpp.2_Missense_Mutation_p.E1214Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1187Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1166Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E1160Q|GAPVD1_uc004bpt.2_Missense_Mutation_p.E220Q NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1205 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TTCGATTGCTGAGGACTACAG 0.383 NaN 0 0 0 0.184627 0 4 82 SLC2A6 11182 broad.mit.edu 37 9 136341379 136341379 + Missense_Mutation SNP G G A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr9:136341379G>A uc004cee.2 - 4 637 c.542C>T c.(541-543)TCC>TTC p.S181F SLC2A6_uc004cef.2_Missense_Mutation_p.S181F|SLC2A6_uc004ceg.2_Missense_Mutation_p.S181F|SLC2A6_uc011mdj.1_Missense_Mutation_p.S181F NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose 181 Helical; Name=5; (Potential). integral to membrane|plasma membrane D-glucose transmembrane transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GAGGGACAGGGATCCGAACAC 0.647 NaN 0 0 0 0.150653 0 4 44 RXRA 6256 broad.mit.edu 37 9 137293588 137293588 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr9:137293588C>G uc004cfb.2 + 2 301 c.139C>G c.(139-141)CTG>GTG p.L47V RXRA_uc004cfa.1_Missense_Mutation_p.A97G NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 47 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCCGGGACAGCTGCATTCTCC 0.697 NaN 0 0 0 0.323286 0 56 28 ARSH 347527 broad.mit.edu 37 X 2928167 2928167 + Silent SNP G G C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:2928167G>C uc011mhj.1 + 2 189 c.189G>C c.(187-189)CTG>CTC p.L63L NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 63 integral to membrane arylsulfatase activity|metal ion binding lung(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTGCCTTCCTGACCGGCCGGT 0.502 NaN 0 0 0 0.115264 0 3 19 KDM6A 7403 broad.mit.edu 37 X 44949073 44949073 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:44949073C>T uc004dge.3 + 25 4009 c.3634C>T c.(3634-3636)CAG>TAG p.Q1212* KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q1264*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q1167*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q1219*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q916*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q851* NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1212 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAGGTTTATTCAGCGACCTGG 0.398 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.153744 0 32 6 TFE3 7030 broad.mit.edu 37 X 48895739 48895739 + Missense_Mutation SNP A A C TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:48895739A>C uc004dmb.3 - 4 1001 c.763T>G c.(763-765)TCC>GCC p.S255A TFE3_uc004dmc.3_Missense_Mutation_p.S150A|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 255 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 TCTGAGCTGGACCCGATGGTG 0.587 NaN T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 0 0 0 0.058154 0 9 19 WNK3 65267 broad.mit.edu 37 X 54321194 54321194 + Missense_Mutation SNP T T G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:54321194T>G uc004dtd.1 - 8 1924 c.1485A>C c.(1483-1485)AGA>AGC p.R495S WNK3_uc004dtc.1_Missense_Mutation_p.R495S NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 495 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GCTTCTTCTCTCTTGTCTTCT 0.458 NaN 0 0 0 0.27861 0 8 24 VSIG4 11326 broad.mit.edu 37 X 65253367 65253367 + Missense_Mutation SNP C C G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:65253367C>G uc004dwh.2 - 2 488 c.361G>C c.(361-363)GAT>CAT p.D121H VSIG4_uc004dwi.2_Missense_Mutation_p.D121H|VSIG4_uc010nkq.1_Missense_Mutation_p.D121H|VSIG4_uc004dwj.2_Missense_Mutation_p.D121H|VSIG4_uc011moy.1_Missense_Mutation_p.D121H|VSIG4_uc004dwk.2_Missense_Mutation_p.D121H|VSIG4_uc004dwl.2_Missense_Mutation_p.D17H NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 121 Ig-like 1.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 TGGTTGCCATCAGGAGTCTGC 0.498 NaN 0 0 0 0.132662 0 13 115 STAG2 10735 broad.mit.edu 37 X 123200110 123200110 + Nonsense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chrX:123200110C>T uc004etz.3 + 21 2521 c.2182C>T c.(2182-2184)CAG>TAG p.Q728* STAG2_uc004eua.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q728*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q728* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 728 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CATGCCTGAGCAGGTTTTTAT 0.303 NaN 0 0 0 0.323286 0 60 17 DHX9 1660 broad.mit.edu 37 1 182849629 182849630 + Splice_Site INS - - A TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr1:182849629_182849630insA uc001gpr.2 + 22 2676 c.2513_splice c.e22-2 p.E838_splice DHX9_uc001gps.2_Splice_Site_p.E624_splice|DHX9_uc001gpt.2_Splice_Site_p.E117_splice|DHX9_uc009wyd.2_5'Flank NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 TATCTCCCCACAGAGCTTGATG 0.396 NaN NaN NaN NaN NaN NaN 13 61 --- --- LRDD 55367 broad.mit.edu 37 11 802398 802401 + Splice_Site DEL TGAG TGAG - TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:802398_802401delTGAG uc001lro.1 - 6 1117 c.975_splice c.e6-1 p.S325_splice LRDD_uc009yck.1_Splice_Site|LRDD_uc001lrk.1_Splice_Site_p.S325_splice|LRDD_uc001lrl.1_Splice_Site_p.S179_splice|LRDD_uc001lrm.1_Splice_Site_p.S12_splice|LRDD_uc001lrn.1_Splice_Site_p.S179_splice|LRDD_uc001lrp.1_Splice_Site NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGGAAAGCTGAGTGAGGAAGGA 0.632 NaN NaN NaN NaN NaN NaN 14 46 --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr11:47788664_47788669delGGTGGT uc009ylv.2 - 1 325_330 c.172_177delACCACC c.(172-177)ACCACCdel p.TT58del FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58_59 ovary(1) 1 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 NaN NaN NaN NaN NaN NaN 3 3 --- --- MLL2 8085 broad.mit.edu 37 12 49415856 49415858 + In_Frame_Del DEL GAT GAT - TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 GAT - GAT GAT Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr12:49415856_49415858delGAT uc001rta.3 - 53 16489_16491 c.16489_16491delATC c.(16489-16491)ATCdel p.I5497del NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5497 Poly-Ile.|SET. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCCGGCTGGAGATGATGATGATT 0.527 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 177 79 --- --- MOV10L1 54456 broad.mit.edu 37 22 50553619 50553620 + Frame_Shift_Ins INS - - G TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr22:50553619_50553620insG uc003bjj.2 + 8 1286_1287 c.1203_1204insG c.(1201-1206)CCTGGGfs p.P401fs MOV10L1_uc003bjk.3_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.1_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 401_402 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGCCTGAGCCTGGGGGGCTTGT 0.46 NaN NaN NaN NaN NaN NaN 74 95 --- --- PRRC1 133619 broad.mit.edu 37 5 126883526 126883529 + Frame_Shift_Del DEL TTGT TTGT - TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr5:126883526_126883529delTTGT uc003kuk.2 + 8 1221_1224 c.1041_1044delTTGT c.(1039-1044)GGTTGTfs p.G347fs PRRC1_uc003kuj.3_Frame_Shift_Del_p.G347fs NM_130809 NP_570721 Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 347_348 Golgi apparatus 0 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TTGACATTGGTTGTTTGGTGGTTG 0.358 NaN NaN NaN NaN NaN NaN 36 62 --- --- TRERF1 55809 broad.mit.edu 37 6 42204105 42204106 + In_Frame_Ins INS - - TCC rs146190272 by1000genomes TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:42204105_42204106insTCC uc003osd.2 - 16 3466_3467 c.2903_2904insGGA c.(2902-2904)GAC>GAGGAC p.967_968insE TRERF1_uc011duq.1_In_Frame_Ins_p.884_885insE|TRERF1_uc003osb.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003osc.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003ose.2_In_Frame_Ins_p.987_988insE NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 967_968 Interacts with CREBBP.|Glu-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTTCCGGGtcctcctcctc 0.465 NaN NaN NaN NaN NaN NaN 3 5 --- --- PTPRK 5796 broad.mit.edu 37 6 128540172 128540173 + Frame_Shift_Del DEL AG AG - TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:128540172_128540173delAG uc003qbk.2 - 6 1129_1130 c.762_763delCT c.(760-765)TCCTTCfs p.S254fs PTPRK_uc003qbj.2_Frame_Shift_Del_p.S254fs|PTPRK_uc010kfc.2_Frame_Shift_Del_p.S254fs|PTPRK_uc011ebu.1_Frame_Shift_Del_p.S254fs|PTPRK_uc003qbl.1_Frame_Shift_Del_p.S124fs|PTPRK_uc011ebv.1_Frame_Shift_Del_p.S254fs NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 254_255 Extracellular (Potential).|Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TGCAATCTGAAGGAAGCGGCAA 0.411 NaN NaN NaN NaN NaN NaN 15 107 --- --- ARID1B 57492 broad.mit.edu 37 6 157099403 157099405 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d05f9b81-7ba9-4231-aae6-1d2c14df22d7 794d21de-faa1-497d-934a-49be110c1f4a g.chr6:157099403_157099405delCAG uc003qqn.2 + 1 318_320 c.166_168delCAG c.(166-168)CAGdel p.Q73del ARID1B_uc003qqo.2_In_Frame_Del_p.Q73del|ARID1B_uc003qqp.2_In_Frame_Del_p.Q73del NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 131 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAACCAGTTCcagcagcagcagc 0.118 NaN NaN NaN NaN NaN NaN 2 4 --- ---