Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CASZ1 54897 broad.mit.edu 37 1 10713622 10713622 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:10713622G>C uc001aro.2 - 11 2812 c.2492C>G c.(2491-2493)TCA>TGA p.S831* CASZ1_uc001arp.1_Nonsense_Mutation_p.S831*|CASZ1_uc009vmx.2_Nonsense_Mutation_p.S855* NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 831 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGGGGTGGCTGAGGCTGCTGA 0.706 NA 12 52 0 0 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:12885059C>G uc001auk.2 - 4 1248 c.1052G>C c.(1051-1053)TGC>TCC p.C351S NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 351 LRR 6. 0 GGTGGCCATGCAGATGGGATT 0.532 NA 4 283 0 0 0 0 PDPN 10630 broad.mit.edu 37 1 13940214 13940214 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:13940214G>C uc001avd.2 + 4 641 c.592G>C c.(592-594)GAG>CAG p.E198Q PDPN_uc001avc.2_Missense_Mutation_p.E198Q|PDPN_uc009vob.2_Missense_Mutation_p.E80Q|PDPN_uc009voc.2_Missense_Mutation_p.E80Q|PDPN_uc001ave.2_Missense_Mutation_p.E80Q|PDPN_uc001avf.2_Missense_Mutation_p.E80Q NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 122 Extracellular (Potential). cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane ovary(2) 2 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) GACAACAGTTGAGAAAGGTAG 0.323 NA 16 19 0 0 0 0 PUM1 9698 broad.mit.edu 37 1 31423055 31423055 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:31423055G>A uc001bsi.1 - 17 2888 c.2775C>T c.(2773-2775)GTC>GTT p.V925V PUM1_uc001bsf.1_Silent_p.V591V|PUM1_uc001bsg.1_Silent_p.V659V|PUM1_uc001bsh.1_Silent_p.V925V|PUM1_uc001bsj.1_Silent_p.V899V|PUM1_uc010oga.1_Silent_p.V781V|PUM1_uc001bsk.1_Silent_p.V961V|PUM1_uc010ogb.1_Silent_p.V866V|SNORD103A_uc009vts.1_5'Flank NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 925 PUM-HD.|Pumilio 3. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CCAATGACAGGACGTGGCCTC 0.438 NA 6 65 0 0 0 0 TRIT1 54802 broad.mit.edu 37 1 40319737 40319737 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:40319737C>T uc010oiz.1 - 3 333 c.319G>A c.(319-321)GAA>AAA p.E107K TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_5'UTR|TRIT1_uc001ceh.3_5'UTR|TRIT1_uc009vvv.2_5'UTR|TRIT1_uc001cei.3_5'UTR|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron|TRIT1_uc010oja.1_RNA NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 107 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AATATATCTTCAATGTGAACA 0.373 NA 13 73 0 0 0 0 RIMS3 9783 broad.mit.edu 37 1 41107389 41107389 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:41107389G>A uc001cfu.1 - 3 678 c.209C>T c.(208-210)CCG>CTG p.P70L RIMS3_uc001cfv.1_Missense_Mutation_p.P70L NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 70 neurotransmitter transport cell junction|synapse 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) ACCAGGCTGCGGAAGCTGGAG 0.637 NA 15 92 0 0 0 0 SLC5A9 200010 broad.mit.edu 37 1 48708177 48708177 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:48708177G>T uc001cro.2 + 13 1778 c.1726G>T c.(1726-1728)GAG>TAG p.E576* SLC5A9_uc001crn.2_Nonsense_Mutation_p.E601*|SLC5A9_uc010omt.1_Nonsense_Mutation_p.E590*|SLC5A9_uc001crp.2_Nonsense_Mutation_p.E243*|SLC5A9_uc010omu.1_Nonsense_Mutation_p.E243*|SLC5A9_uc009vyt.1_RNA NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 576 Cytoplasmic (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 CTCTGAGCTGGAGAAGGAGGC 0.622 NA 6 170 0.00116845 0.00155244 1 0 ELAVL4 1996 broad.mit.edu 37 1 50661352 50661352 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:50661352G>T uc001csb.2 + 5 896 c.628G>T c.(628-630)GCC>TCC p.A210S ELAVL4_uc001cry.3_Missense_Mutation_p.A213S|ELAVL4_uc001crz.3_Missense_Mutation_p.A210S|ELAVL4_uc001csa.3_Missense_Mutation_p.A227S|ELAVL4_uc001csc.3_Missense_Mutation_p.A210S|ELAVL4_uc009vyu.2_Missense_Mutation_p.A215S|ELAVL4_uc010omz.1_Missense_Mutation_p.A215S NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 210 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 TGTGAAGTTTGCCAACAACCC 0.572 NA 57 94 4.55e-40 7.65e-40 1 0 ORC1L 4998 broad.mit.edu 37 1 52854210 52854210 + Silent SNP C C T rs61756135 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:52854210C>T uc001ctt.2 - 8 1506 c.1287G>A c.(1285-1287)CCG>CCA p.P429P ORC1L_uc010oni.1_Silent_p.P429P|ORC1L_uc001ctu.2_Silent_p.P429P|ORC1L_uc009vzd.2_Silent_p.P183P NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 429 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 TTGGAAGGGGCGGTGTGGAAG 0.483 NA 8 180 0 0 0 0 FAM73A 374986 broad.mit.edu 37 1 78279429 78279429 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:78279429G>A uc001dhx.2 + 6 680 c.648G>A c.(646-648)TTG>TTA p.L216L FAM73A_uc010ork.1_Silent_p.L216L|FAM73A_uc010orl.1_Silent_p.L178L|FAM73A_uc001dhy.1_Silent_p.L5L NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 216 integral to membrane ovary(1) 1 Colorectal(170;0.226) GTATGGAATTGTTTGAAGAGG 0.388 NA 45 50 0 0 0 0 MCOLN3 55283 broad.mit.edu 37 1 85498622 85498622 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:85498622G>C uc001dkp.2 - 5 661 c.568C>G c.(568-570)CCA>GCA p.P190A MCOLN3_uc001dkq.2_Missense_Mutation_p.P134A|MCOLN3_uc001dkr.2_Missense_Mutation_p.P190A|MCOLN3_uc001dks.3_Missense_Mutation_p.P35A NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 190 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) GGTTCATCTGGCTCCACAAAG 0.398 NA 110 126 0 0 0 0 CCDC18 343099 broad.mit.edu 37 1 93672782 93672782 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:93672782G>C uc001dpq.2 + 9 1558 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q CCDC18_uc009wdl.1_Missense_Mutation_p.E25Q NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 346 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GCTAGAGAGTGAGTTAGAGAA 0.353 NA 7 36 0 0 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:109369904T>C uc001dwa.2 - 11 2128 c.1859A>G c.(1858-1860)AAG>AGG p.K620R AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 620 ovary(3) 3 TCCGTGGCCCTTTTTCTCCAC 0.413 NA 4 219 0 0 0 0 WDR47 22911 broad.mit.edu 37 1 109538250 109538250 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:109538250G>C uc001dwj.2 - 8 2019 c.1643C>G c.(1642-1644)TCA>TGA p.S548* WDR47_uc001dwl.2_Nonsense_Mutation_p.S556*|WDR47_uc001dwi.2_Nonsense_Mutation_p.S549*|WDR47_uc001dwk.2_Nonsense_Mutation_p.S520*|WDR47_uc010ovf.1_Nonsense_Mutation_p.S475* NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 548 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) GTGATTTGTTGATCCAGGATT 0.373 NA 37 235 0 0 0 0 PTPN22 26191 broad.mit.edu 37 1 114397643 114397643 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:114397643T>C uc001eds.2 - 8 699 c.569A>G c.(568-570)TAC>TGC p.Y190C uc001edv.1_5'Flank|PTPN22_uc009wgq.2_Missense_Mutation_p.Y190C|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Y190C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.Y190C NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 190 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAATTCTTGTAATGAAACTG 0.299 NA 30 36 0 0 0 0 BCL9 607 broad.mit.edu 37 1 147095739 147095739 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:147095739C>G uc001epq.2 + 10 4000 c.3260C>G c.(3259-3261)TCT>TGT p.S1087C BCL9_uc010ozr.1_Missense_Mutation_p.S1001C NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1087 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CAGCCACTTTCTCACTCCAAT 0.527 NA T IGH@|IGL@ B-ALL 4 468 0 0 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783712 149783712 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:149783712G>T uc001esr.2 - 1 217 c.167C>A c.(166-168)TCG>TAG p.S56* HIST2H2BF_uc010pbj.1_Nonsense_Mutation_p.S56*|HIST2H2BF_uc010pbk.1_Nonsense_Mutation_p.S56* NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 56 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) GGCCTTGGACGAGATGCCGGT 0.607 NA 134 313 5.71e-70 9.74e-70 1 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859080 149859080 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:149859080G>T uc001ete.2 - 1 387 c.387C>A c.(385-387)AAC>AAA p.N129K HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 129 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTAATTACTTGTTCTTGCCAG 0.498 NA 67 86 7.59e-32 1.25e-31 1 0 RPTN 126638 broad.mit.edu 37 1 152128090 152128090 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:152128090C>G uc001ezs.1 - 3 1550 c.1485G>C c.(1483-1485)CAG>CAC p.Q495H NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 495 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 AATGATAACTCTGGTCTTGTC 0.498 NA 6 949 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152275982 152275982 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:152275982G>A uc001ezu.1 - 3 11416 c.11380C>T c.(11380-11382)CAG>TAG p.Q3794* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3794 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTTCCCTGGGATGTGGTG 0.572 NA Ichthyosis 285 564 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152283008 152283008 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:152283008C>G uc001ezu.1 - 3 4390 c.4354G>C c.(4354-4356)GAG>CAG p.E1452Q uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1452 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGTGGACTCAGACTGTTCA 0.572 NA Ichthyosis 10 608 0 0 0 0 C1orf85 112770 broad.mit.edu 37 1 156263979 156263979 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:156263979G>C uc001foh.2 - 4 641 c.628C>G c.(628-630)CTG>GTG p.L210V C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Missense_Mutation_p.L210V|C1orf85_uc009wrx.2_Missense_Mutation_p.L143V|C1orf85_uc001foj.2_Missense_Mutation_p.L124V NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN kidney predominant protein NCU-G1 precursor 210 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Hepatocellular(266;0.158) GCTGTGTGCAGGAGGCGAGGG 0.607 NA 15 80 0 0 0 0 CD5L 922 broad.mit.edu 37 1 157803289 157803289 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:157803289C>G uc001frk.3 - 5 875 c.732G>C c.(730-732)TTG>TTC p.L244F NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 244 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTACTAGTCTCAAGTCAAAGG 0.478 NA 4 208 0 0 0 0 OR10X1 128367 broad.mit.edu 37 1 158549486 158549486 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:158549486G>C uc010pin.1 - 1 204 c.204C>G c.(202-204)GAC>GAG p.D68E NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 68 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGAGGGACCTGTCCACCCAAG 0.478 NA 41 109 0 0 0 0 OR6K6 128371 broad.mit.edu 37 1 158725260 158725260 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:158725260G>A uc001fsw.1 + 1 655 c.655G>A c.(655-657)GAT>AAT p.D219N NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 219 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) GGCCTGCACAGATACATTCCT 0.473 NA 36 104 0 0 0 0 MPZL1 9019 broad.mit.edu 37 1 167742587 167742587 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:167742587C>G uc001geo.2 + 4 789 c.587C>G c.(586-588)TCT>TGT p.S196C MPZL1_uc001gen.3_Missense_Mutation_p.S196C|MPZL1_uc001gep.2_Missense_Mutation_p.S196C|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_RNA NM_003953 NP_003944 O95297 MPZL1_HUMAN myelin protein zero-like 1 isoform a 196 Cytoplasmic (Potential). cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity ovary(2) 2 all_hematologic(923;0.215) AGGAAAAACTCTAAACGGGAT 0.438 NA 7 106 0 0 0 0 F5 2153 broad.mit.edu 37 1 169510654 169510654 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:169510654G>T uc001ggg.1 - 13 3819 c.3674C>A c.(3673-3675)GCC>GAC p.A1225D NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1225 2-5.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGACCGAGGGCTGGGGAAAG 0.532 NA 204 448 6.21e-80 1.06e-79 1 0 FAM5C 339479 broad.mit.edu 37 1 190067943 190067943 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:190067943C>T uc001gse.1 - 8 1738 c.1506G>A c.(1504-1506)CAG>CAA p.Q502Q FAM5C_uc010pot.1_Silent_p.Q400Q NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 502 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGTCCGTTTTCTGCAGCAGAT 0.498 NA 51 239 0 0 0 0 PIGR 5284 broad.mit.edu 37 1 207110641 207110641 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:207110641C>A uc001hez.2 - 4 1028 c.844G>T c.(844-846)GTC>TTC p.V282F PIGR_uc009xbz.2_Missense_Mutation_p.V282F NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 282 Ig-like V-type 3.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 GTGTTGACGACCACGTCACAG 0.602 NA 39 96 1.07e-22 1.72e-22 1 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933400 209933400 + Missense_Mutation SNP C C T rs151094826 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:209933400C>T uc001hho.2 + 3 306 c.16C>T c.(16-18)CCC>TCC p.P6S TRAF3IP3_uc001hhl.2_Missense_Mutation_p.P6S|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.P6S|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.P6S|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.P6S NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 6 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAGCCCAGACCCCAGGCCCTC 0.602 NA 18 50 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215848133 215848133 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:215848133C>T uc001hku.1 - 63 13507 c.13120G>A c.(13120-13122)GTA>ATA p.V4374I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4374 Extracellular (Potential).|Fibronectin type-III 29. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACCAACATACATTCATTTGA 0.488 NA HNSCC(13;0.011) 27 61 0 0 0 0 ESRRG 2104 broad.mit.edu 37 1 216850476 216850476 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:216850476G>C uc001hkw.1 - 2 580 c.414C>G c.(412-414)TAC>TAG p.Y138* ESRRG_uc001hky.1_Nonsense_Mutation_p.Y115*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Y115*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Y115*|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Y143*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Y115*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Y115* NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 138 Nuclear receptor.|NR C4-type. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCCCATAGTGGTACCCAGAAG 0.498 NA 56 138 0 0 0 0 LBR 3930 broad.mit.edu 37 1 225598118 225598118 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:225598118C>A uc001hoy.2 - 10 1332 c.1189G>T c.(1189-1191)GTG>TTG p.V397L LBR_uc001hoz.2_Missense_Mutation_p.V397L|LBR_uc001hpa.1_Missense_Mutation_p.V397L NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 397 Helical; (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTAATAACCACCTGAAACAAA 0.244 NA 41 83 1.47e-15 2.24e-15 1 0 C1orf55 163859 broad.mit.edu 37 1 226176001 226176001 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:226176001T>C uc001hpu.3 - 6 783 c.730A>G c.(730-732)ATG>GTG p.M244V C1orf55_uc001hpv.2_Missense_Mutation_p.M244V NM_152608 NP_689821 Q6IQ49 CA055_HUMAN hypothetical protein LOC163859 244 lung(1) 1 Breast(184;0.197) TGGAAACCCATTCCTGAAGTG 0.498 NA 92 204 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231069578 231069578 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:231069578C>G uc001huf.3 - 9 961 c.930G>C c.(928-930)TTG>TTC p.L310F TTC13_uc009xfi.2_Missense_Mutation_p.L257F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.L257F|TTC13_uc009xfk.1_Missense_Mutation_p.L200F NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 310 TPR 4. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTTTCTGCTTCAAAGCTTCTT 0.328 NA 21 88 0 0 0 0 HEATR1 55127 broad.mit.edu 37 1 236724551 236724551 + Silent SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:236724551A>G uc001hyd.1 - 33 4745 c.4620T>C c.(4618-4620)CCT>CCC p.P1540P HEATR1_uc009xgh.1_Silent_p.P702P NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1540 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTAAAATCTCAGGACCACCAC 0.269 NA 3 148 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237951342 237951342 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:237951342G>T uc001hyl.1 + 92 13503 c.13383G>T c.(13381-13383)AAG>AAT p.K4461N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4461 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCAAACAAAAGTTGAGGCAGC 0.398 NA 13 18 9.31e-06 1.28e-05 1 0 FMN2 56776 broad.mit.edu 37 1 240256603 240256603 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:240256603C>A uc010pyd.1 + 1 1419 c.1194C>A c.(1192-1194)CCC>CCA p.P398P FMN2_uc010pye.1_Silent_p.P398P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 398 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTTCCCTGCCCGGCAGCCCCG 0.706 NA 36 76 3.04e-20 4.79e-20 1 0 FMN2 56776 broad.mit.edu 37 1 240371048 240371048 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:240371048C>A uc010pyd.1 + 5 3161 c.2936C>A c.(2935-2937)CCC>CAC p.P979H FMN2_uc010pye.1_Missense_Mutation_p.P983H NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 979 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTCCTCCACCCCCTCTACCC 0.716 NA 36 52 2.64e-12 3.92e-12 1 0 FMN2 56776 broad.mit.edu 37 1 240635698 240635698 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:240635698G>A uc010pyd.1 + 17 5312 c.5087G>A c.(5086-5088)AGA>AAA p.R1696K FMN2_uc010pye.1_Missense_Mutation_p.R1700K|FMN2_uc010pyg.1_Missense_Mutation_p.R292K|FMN2_uc001hyr.2_RNA NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1696 Potential.|FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GAGGTGTGTAGACAGAAGAAA 0.328 NA 23 76 0 0 0 0 RGS7 6000 broad.mit.edu 37 1 241519074 241519074 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:241519074C>A uc001hyv.2 - 2 333 c.3G>T c.(1-3)ATG>ATT p.M1I RGS7_uc001hyu.2_Missense_Mutation_p.M1I|RGS7_uc009xgn.1_Missense_Mutation_p.M1I|RGS7_uc001hyw.2_Missense_Mutation_p.M1I NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 1 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCCCCTGGGCCATGTCACCCA 0.498 NA 42 91 4.67e-22 7.47e-22 1 0 OR2W5 441932 broad.mit.edu 37 1 247655015 247655015 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:247655015G>T uc001icz.1 + 1 586 c.586G>T c.(586-588)GAA>TAA p.E196* NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CATGCTGGTAGAAGCGATTCA 0.587 NA 81 146 4.42e-40 7.43e-40 1 0 OR2C3 81472 broad.mit.edu 37 1 247695641 247695641 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:247695641G>T uc009xgy.2 - 2 535 c.173C>A c.(172-174)ACA>AAA p.T58K C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 58 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GTACATAGGTGTGTGGAGGTG 0.488 NA 53 92 1.11e-26 1.81e-26 1 0 TRIM58 25893 broad.mit.edu 37 1 248039588 248039588 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:248039588G>A uc001ido.2 + 6 1306 c.1258G>A c.(1258-1260)GGT>AGT p.G420S OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 420 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTATGAAGCCGGTGAAATTTC 0.448 NA 124 220 0 0 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129228 248129228 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:248129228C>A uc010pzd.1 + 1 595 c.595C>A c.(595-597)CTA>ATA p.L199I OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGTTCCAGCTCTACTATCATT 0.428 NA 12 114 3.07e-06 4.26e-06 1 0 OR2T4 127074 broad.mit.edu 37 1 248525904 248525904 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:248525904C>T uc001ieh.1 + 1 1022 c.1022C>T c.(1021-1023)CCT>CTT p.P341L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 341 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACAGTGGAACCTGCCTTTCAA 0.393 NA 5 238 0 0 0 0 OR2T27 403239 broad.mit.edu 37 1 248813773 248813773 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:248813773C>G uc010pzo.1 - 1 413 c.413G>C c.(412-414)CGC>CCC p.R138P NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGATCTTGCGGCTCATGAG 0.557 NA 50 128 0 0 0 0 GATA3 2625 broad.mit.edu 37 10 8100437 8100437 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:8100437G>A uc001ika.2 + 3 968 c.411G>A c.(409-411)TCG>TCA p.S137S GATA3_uc001ijz.2_Silent_p.S137S NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 137 Poly-Ser. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CCCCGGCCTCGTCCTCCTCCT 0.716 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 51 120 0 0 0 0 ACBD7 414149 broad.mit.edu 37 10 15120601 15120601 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:15120601C>A uc001inv.2 - 4 243 c.195G>T c.(193-195)GGG>GGT p.G65G ACBD7_uc010qby.1_Intron NM_001039844 NP_001034933 Q8N6N7 ACBD7_HUMAN acyl-Coenzyme A binding domain containing 7 65 ACB. fatty-acyl-CoA binding 0 CCGTCGACAACCCTAGAAAGA 0.363 NA 56 115 4.48e-38 7.5e-38 1 0 NEBL 10529 broad.mit.edu 37 10 21139430 21139430 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:21139430A>G uc001iqi.2 - 11 1407 c.1010T>C c.(1009-1011)GTG>GCG p.V337A NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 337 Nebulin 9. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TTTATATTTCACCTTCATTGG 0.318 NA 3 117 0 0 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24884718 24884718 + Nonsense_Mutation SNP G G A rs149363020 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:24884718G>A uc001isb.2 - 19 4127 c.3640C>T c.(3640-3642)CGA>TGA p.R1214* ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1213 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTCAAATCTCGCCATTTCTAG 0.358 NA 27 55 0 0 0 0 YME1L1 10730 broad.mit.edu 37 10 27434503 27434503 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:27434503C>T uc001iti.2 - 4 538 c.356G>A c.(355-357)AGG>AAG p.R119K YME1L1_uc001itj.2_Missense_Mutation_p.R62K|YME1L1_uc010qdl.1_Missense_Mutation_p.R62K|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_3'UTR NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 119 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TCCAAGGTCCCTTAAGTTAAG 0.333 NA 21 77 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37438733 37438733 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:37438733C>A uc001iza.1 + 11 1532 c.1433C>A c.(1432-1434)CCA>CAA p.P478Q NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 534 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AACTCTGTTCCAAATAAAGCC 0.294 NA 48 107 3.77e-23 6.06e-23 1 0 FRMPD2 143162 broad.mit.edu 37 10 49414961 49414961 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:49414961G>T uc001jgi.2 - 14 1734 c.1627C>A c.(1627-1629)CCA>ACA p.P543T FRMPD2_uc001jgh.2_Missense_Mutation_p.P511T|FRMPD2_uc001jgj.2_Missense_Mutation_p.P521T NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 543 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCGTATTCTGGGAGCTGCTGA 0.498 NA 21 48 5.35e-06 7.41e-06 1 0 PCDH15 65217 broad.mit.edu 37 10 55782945 55782945 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:55782945C>T uc001jju.1 - 19 2628 c.2233G>A c.(2233-2235)GAT>AAT p.D745N PCDH15_uc010qhq.1_Missense_Mutation_p.D750N|PCDH15_uc010qhr.1_Missense_Mutation_p.D745N|PCDH15_uc010qhs.1_Missense_Mutation_p.D757N|PCDH15_uc010qht.1_Missense_Mutation_p.D752N|PCDH15_uc010qhu.1_Missense_Mutation_p.D745N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D745N|PCDH15_uc010qhw.1_Missense_Mutation_p.D708N|PCDH15_uc010qhx.1_Missense_Mutation_p.D674N|PCDH15_uc010qhy.1_Missense_Mutation_p.D750N|PCDH15_uc010qhz.1_Missense_Mutation_p.D745N|PCDH15_uc010qia.1_Missense_Mutation_p.D723N|PCDH15_uc010qib.1_Missense_Mutation_p.D723N|PCDH15_uc001jjw.2_Missense_Mutation_p.D745N NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 745 Extracellular (Potential).|Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ATTCCAGCATCAGGGTCTGTT 0.338 NA HNSCC(58;0.16) 9 59 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648067 62648067 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:62648067C>A uc001jli.2 - 7 1797 c.1359G>T c.(1357-1359)ATG>ATT p.M453I RHOBTB1_uc001jlh.2_Missense_Mutation_p.M453I|RHOBTB1_uc001jlj.2_Missense_Mutation_p.M453I|RHOBTB1_uc001jlk.2_Missense_Mutation_p.M453I|RHOBTB1_uc009xpe.1_Missense_Mutation_p.M391I|RHOBTB1_uc001jll.2_Missense_Mutation_p.M203I NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 453 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) CTTCCTTGTTCATGATGTTTT 0.483 NA 28 91 1.51e-07 2.12e-07 1 0 LRRTM3 347731 broad.mit.edu 37 10 68687192 68687192 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:68687192C>T uc001jmz.1 + 2 1068 c.518C>T c.(517-519)CCT>CTT p.P173L CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P173L NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 173 Extracellular (Potential).|LRR 5. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AGAACCATCCCTGTGCGAATA 0.488 NA 17 195 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70406353 70406353 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:70406353G>A uc001jok.3 + 4 4372 c.3867G>A c.(3865-3867)ACG>ACA p.T1289T NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1289 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TACAGTTAACGGTGAATGCCA 0.458 NA 8 166 0 0 0 0 OIT3 170392 broad.mit.edu 37 10 74673213 74673213 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:74673213G>T uc001jte.1 + 6 1156 c.938G>T c.(937-939)GGT>GTT p.G313V OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 313 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) AAGACATGTGGTACAGTGGTC 0.557 NA 39 114 1.57e-19 2.46e-19 1 0 ANXA7 310 broad.mit.edu 37 10 75139821 75139821 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:75139821G>A uc001jtz.2 - 11 1196 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* ANXA7_uc001jua.2_Nonsense_Mutation_p.Q353*|ANXA7_uc001jub.2_Nonsense_Mutation_p.Q313*|ANXA7_uc010qki.1_Nonsense_Mutation_p.Q263*|ANXA7_uc009xre.2_Nonsense_Mutation_p.Q282*|ANXA7_uc009xrf.1_Nonsense_Mutation_p.Q295* NM_004034 NP_004025 P20073 ANXA7_HUMAN annexin VII isoform 2 375 Annexin 3. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) GCTCTCAGCTGAGGAAAGCTT 0.428 NA 101 344 0 0 0 0 USP54 159195 broad.mit.edu 37 10 75277422 75277422 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:75277422G>C uc001juo.2 - 18 2779 c.2762C>G c.(2761-2763)TCT>TGT p.S921C USP54_uc010qkk.1_Missense_Mutation_p.S103C|USP54_uc001juk.2_Missense_Mutation_p.S9C|USP54_uc001jul.2_Missense_Mutation_p.S9C|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 921 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) ATGGAAGAAAGAACTGGCCCC 0.512 NA 18 87 0 0 0 0 PTEN 5728 broad.mit.edu 37 10 89624270 89624270 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:89624270G>C uc001kfb.2 + 2 1075 c.44G>C c.(43-45)AGA>ACA p.R15T KILLIN_uc009xti.2_5'Flank NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 15 Phosphatase tensin-type. R -> S (in glioma). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(13)|p.0?(12)|p.R15I(4)|p.R15S(3)|p.R15K(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.N12fs*6(1)|p.R14_D22del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AACAAAAGGAGATATCAAGAG 0.478 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 15 129 0 0 0 0 TMEM20 159371 broad.mit.edu 37 10 95658490 95658490 + Missense_Mutation SNP C C A rs78174634 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr10:95658490C>A uc001kjg.1 + 2 402 c.341C>A c.(340-342)CCT>CAT p.P114H TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.P113H|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.P97H|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 114 Helical; (Potential).|DUF6 1. integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) GTTGTTATCCCTTGCTTAATA 0.338 NA 4 47 0.000602214 0.000802385 1 0 ANO9 338440 broad.mit.edu 37 11 433389 433389 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:433389G>C uc001lpi.2 - 4 360 c.275C>G c.(274-276)ACT>AGT p.T92S ANO9_uc010qvv.1_5'UTR NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 92 Cytoplasmic (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CAGGAGGAAAGTGCGGTACAG 0.647 NA 45 40 0 0 0 0 EPS8L2 64787 broad.mit.edu 37 11 722549 722549 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:722549G>A uc001lqt.2 + 13 1455 c.1208G>A c.(1207-1209)CGT>CAT p.R403H EPS8L2_uc001lqu.2_Missense_Mutation_p.R403H|EPS8L2_uc010qwk.1_Missense_Mutation_p.R419H|EPS8L2_uc001lqv.2_Missense_Mutation_p.R358H|EPS8L2_uc001lqw.2_Missense_Mutation_p.R15H|EPS8L2_uc001lqx.2_Missense_Mutation_p.R15H|EPS8L2_uc001lqy.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 403 cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGCGGCCCCGGTAGGGCAGG 0.687 NA 24 22 0 0 0 0 OR51S1 119692 broad.mit.edu 37 11 4870420 4870420 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:4870420G>T uc010qyo.1 - 1 19 c.19C>A c.(19-21)CAG>AAG p.Q7K NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGGCTATCTGAGTTGGTAAT 0.483 NA 50 120 9.22e-22 1.47e-21 1 0 OR52A4 390053 broad.mit.edu 37 11 5142452 5142452 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:5142452C>A uc001lzz.1 - 1 357 c.357G>T c.(355-357)CTG>CTT p.L119L OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CCATGGCTAGCAGGACTCCTG 0.438 NA 13 73 1.05e-09 1.53e-09 1 0 DENND5A 23258 broad.mit.edu 37 11 9161320 9161320 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:9161320G>C uc001mhl.2 - 23 4017 c.3762C>G c.(3760-3762)ATC>ATG p.I1254M DENND5A_uc001mhk.2_Missense_Mutation_p.I597M|DENND5A_uc010rbw.1_3'UTR NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 1254 RUN 2. liver(1) 1 TATGGTCTTTGATCAGTGCCA 0.527 NA 8 68 0 0 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409546 17409546 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:17409546C>T uc001mna.2 - 1 661 c.93G>A c.(91-93)CGG>CGA p.R31R KCNJ11_uc001mnb.3_Intron NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 31 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) AGCGGGCCCTCCGCTGGCGGG 0.652 NA 14 157 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17427052 17427052 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:17427052T>C uc001mnc.2 - 27 3514 c.3388A>G c.(3388-3390)ACC>GCC p.T1130A NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1130 Cytoplasmic (By similarity).|ABC transmembrane type-1 2. T -> P (in HHF1). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGGTCGATGGTGTTACAGTCA 0.542 NA 54 191 0 0 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077336 19077336 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:19077336A>T uc001mph.2 - 2 702 c.614T>A c.(613-615)CTG>CAG p.L205Q NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 205 Helical; Name=5; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 CCTGACCAGCAGGGCCAGACT 0.547 NA 24 48 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 21592462 21592462 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:21592462T>A uc001mqe.2 + 18 2286 c.2133T>A c.(2131-2133)CAT>CAA p.H711Q NELL1_uc001mqf.2_Missense_Mutation_p.H664Q|NELL1_uc009yid.2_Missense_Mutation_p.H739Q|NELL1_uc010rdo.1_Missense_Mutation_p.H654Q|NELL1_uc010rdp.1_Missense_Mutation_p.H424Q|NELL1_uc001mqh.2_Missense_Mutation_p.H256Q NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 711 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ATTGGACCCATAGCTGTCAGC 0.448 NA 62 168 0 0 0 0 SVIP 258010 broad.mit.edu 37 11 22848863 22848863 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:22848863C>A uc001mqp.3 - 3 197 c.109G>T c.(109-111)GCA>TCA p.A37S uc001mqq.1_5'Flank NM_148893 NP_683691 Q8NHG7 SVIP_HUMAN small VCP/p97-interacting protein 37 Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane 0 CCCCGAGATGCAGCCTTGAAG 0.353 NA 37 137 1.7e-12 2.53e-12 1 0 ANO3 63982 broad.mit.edu 37 11 26681844 26681844 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:26681844C>T uc001mqt.3 + 27 2944 c.2799C>T c.(2797-2799)TAC>TAT p.Y933Y ANO3_uc010rdr.1_Silent_p.Y917Y|ANO3_uc010rds.1_Silent_p.Y772Y|ANO3_uc010rdt.1_Silent_p.Y787Y NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 933 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCATCGCATACCTGATTCCAG 0.373 NA 27 90 0 0 0 0 SLC5A12 159963 broad.mit.edu 37 11 26742938 26742938 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:26742938G>A uc001mra.2 - 1 637 c.324C>T c.(322-324)ATC>ATT p.I108I SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.3_Silent_p.I108I NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 108 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 AAGTGCTGGTGATACCAGATC 0.408 NA 20 40 0 0 0 0 CD44 960 broad.mit.edu 37 11 35222735 35222735 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:35222735G>A uc001mvu.2 + 8 1463 c.1029G>A c.(1027-1029)AGG>AGA p.R343R CD44_uc001mvv.2_Silent_p.R300R|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 343 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CAACCACAAGGATGACTGGTA 0.463 NA 41 146 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55595390 55595390 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:55595390G>T uc001nhy.1 + 1 696 c.696G>T c.(694-696)GAG>GAT p.E232D NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) ACTCTGCAGAGAGCAGGCACA 0.493 NA HNSCC(27;0.073) 61 130 3.22e-24 5.2e-24 1 0 OR8H2 390151 broad.mit.edu 37 11 55872670 55872670 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:55872670G>T uc010riy.1 + 1 152 c.152G>T c.(151-153)CGC>CTC p.R51L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TTGATAATCCGCCTGGACCTC 0.428 NA HNSCC(53;0.14) 80 277 5.43e-32 8.95e-32 1 0 OR8H2 390151 broad.mit.edu 37 11 55872803 55872803 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:55872803G>T uc010riy.1 + 1 285 c.285G>T c.(283-285)ACG>ACT p.T95T NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TTTCCTTTACGGGCTGCTTTG 0.443 NA HNSCC(53;0.14) 177 524 4.48e-97 7.66e-97 1 0 OR8K5 219453 broad.mit.edu 37 11 55927286 55927286 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:55927286C>A uc010rja.1 - 1 508 c.508G>T c.(508-510)GGC>TGC p.G170C NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ACATTAGAGCCACAGAAGGTC 0.388 NA 50 86 8.07e-11 1.19e-10 1 0 OR5M9 390162 broad.mit.edu 37 11 56230512 56230512 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:56230512C>A uc010rjj.1 - 1 366 c.366G>T c.(364-366)ATG>ATT p.M122I NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) TGCAGCCGGCCATGTACCTGT 0.493 NA 53 125 1e-16 1.54e-16 1 0 MS4A14 84689 broad.mit.edu 37 11 60183849 60183849 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:60183849G>C uc001npj.2 + 5 1973 c.1408G>C c.(1408-1410)GAA>CAA p.E470Q MS4A14_uc001npi.2_Missense_Mutation_p.E358Q|MS4A14_uc001npn.2_Missense_Mutation_p.E208Q|MS4A14_uc001npk.2_Missense_Mutation_p.E453Q|MS4A14_uc001npl.2_Missense_Mutation_p.E208Q|MS4A14_uc001npm.2_Missense_Mutation_p.E208Q NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 470 Gln-rich. integral to membrane receptor activity breast(1) 1 AGAGACCAAAGAATGGAAATC 0.388 NA 9 114 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62295549 62295549 + Missense_Mutation SNP C C T rs1298288 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:62295549C>T uc001ntl.2 - 5 6640 c.6340G>A c.(6340-6342)GCC>ACC p.A2114T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2114 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCTTGGGGGCCTTGAAGTGC 0.507 NA 7 665 0 0 0 0 FIBP 9158 broad.mit.edu 37 11 65651446 65651446 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:65651446C>T uc001ogd.2 - 10 1215 c.1094G>A c.(1093-1095)TGA>TAA p.*365* FIBP_uc009yqu.2_3'UTR|FIBP_uc001oge.2_Silent_p.*358* NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 365 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) GGAGGCACCTCAGTCATGATA 0.602 NA OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 77 0 0 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378581 67378581 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:67378581C>T uc001omj.2 + 6 969 c.816C>T c.(814-816)GGC>GGT p.G272G NDUFV1_uc010rpv.1_Silent_p.G171G|NDUFV1_uc001oml.2_Silent_p.G265G|NDUFV1_uc001omk.3_Silent_p.G263G|NDUFV1_uc009yrz.1_Silent_p.G171G|NDUFV1_uc010rpw.1_5'UTR NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 272 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) GCAACTCAGGCACCAAACTAT 0.542 NA 42 115 0 0 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063227 76063227 + Nonsense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:76063227C>A uc001oxh.1 - 5 967 c.967G>T c.(967-969)GAG>TAG p.E323* PRKRIR_uc010rrz.1_Nonsense_Mutation_p.E148* NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 323 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 CGACAATACTCCATATTTAAT 0.383 NA 41 86 9.55e-19 1.48e-18 1 0 PCF11 51585 broad.mit.edu 37 11 82879779 82879779 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:82879779G>C uc001ozx.3 + 8 2747 c.2402G>C c.(2401-2403)GGA>GCA p.G801A PCF11_uc010rsu.1_Missense_Mutation_p.G932A NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 801 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ATGGGGGGAGGAGGCCCTTTG 0.522 NA 7 83 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027117 103027117 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:103027117G>C uc001pho.2 + 26 3889 c.3745G>C c.(3745-3747)GAT>CAT p.D1249H DYNC2H1_uc001phn.1_Missense_Mutation_p.D1249H|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1249 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TGTTAAATAGGATTTAAATAG 0.284 NA 26 45 0 0 0 0 CASP1 834 broad.mit.edu 37 11 104904955 104904955 + Missense_Mutation SNP C C T rs2509649 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:104904955C>T uc010rve.1 - 2 271 c.254G>A c.(253-255)GGG>GAG p.G85E CASP1_uc001pig.2_Intron|CASP1_uc001pik.2_Missense_Mutation_p.G69E|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Missense_Mutation_p.G85E|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.G85E|CASP1_uc009yxi.2_Missense_Mutation_p.G85E|CASP1_uc010rvj.1_Missense_Mutation_p.G85E|CASP1_uc009yxj.2_5'UTR|CASP1_uc010rvk.1_Missense_Mutation_p.G46E|CASP1_uc010rvl.1_Missense_Mutation_p.G85E NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 85 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCCCAGCGTCCCTGCCAGGTA 0.468 NA 6 270 0 0 0 0 NPAT 4863 broad.mit.edu 37 11 108043717 108043717 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:108043717G>A uc001pjz.3 - 13 2096 c.1994C>T c.(1993-1995)TCT>TTT p.S665F NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.S460F NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 665 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTCTTTTACAGAAGATGAAGG 0.393 NA 5 78 0 0 0 0 CBL 867 broad.mit.edu 37 11 119144609 119144609 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:119144609G>C uc001pwe.2 + 4 760 c.622G>C c.(622-624)GCT>CCT p.A208P NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 208 Cbl-PTB.|EF-hand-like. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTTTCGACAGGCTCTACATGA 0.458 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 24 56 0 0 0 0 TBCEL 219899 broad.mit.edu 37 11 120925915 120925915 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:120925915A>T uc009zay.2 + 5 688 c.610A>T c.(610-612)ACC>TCC p.T204S TBCEL_uc001pxo.2_Missense_Mutation_p.T204S|TBCEL_uc001pxp.2_Missense_Mutation_p.T60S|TBCEL_uc001pxq.2_Intron NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 204 LRR 6. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TTCACTGGATACCCTCGTCCT 0.418 NA 40 63 0 0 0 0 SORL1 6653 broad.mit.edu 37 11 121476228 121476228 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:121476228C>G uc001pxx.2 + 35 4976 c.4896C>G c.(4894-4896)CTC>CTG p.L1632L SORL1_uc010rzp.1_Silent_p.L478L|SORL1_uc010rzq.1_Silent_p.L247L NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1632 Extracellular (Potential).|Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTCAGTGTCTCAGCAAGGCAC 0.443 NA 29 357 0 0 0 0 C12orf60 144608 broad.mit.edu 37 12 14976373 14976373 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:14976373C>T uc001rcj.3 + 2 708 c.504C>T c.(502-504)ACC>ACT p.T168T NM_175874 NP_787070 Q5U649 CL060_HUMAN hypothetical protein LOC144608 168 ovary(1)|central_nervous_system(1) 2 CAGATGTCACCACATCTGAGA 0.393 NA 6 77 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52139700 52139700 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:52139700T>G uc001ryw.2 + 13 2190 c.2012T>G c.(2011-2013)GTG>GGG p.V671G SCN8A_uc010snl.1_Missense_Mutation_p.V536G|SCN8A_uc001ryx.1_Missense_Mutation_p.V547G|SCN8A_uc001ryz.1_Missense_Mutation_p.V547G|SCN8A_uc001ryy.2_Missense_Mutation_p.V536G NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 671 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ACAACTGAGGTGGAAATTAAG 0.388 NA 8 65 0 0 0 0 SUOX 6821 broad.mit.edu 37 12 56396425 56396425 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:56396425C>G uc001six.2 + 5 475 c.149C>G c.(148-150)TCC>TGC p.S50C SUOX_uc009zoh.2_Missense_Mutation_p.S50C|SUOX_uc001siy.2_Missense_Mutation_p.S50C|SUOX_uc001siz.2_Missense_Mutation_p.S50C|SUOX_uc001sja.2_Missense_Mutation_p.S50C NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 50 mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GGTGATAACTCCAGCACCCAG 0.537 NA 39 201 0 0 0 0 SMARCC2 6601 broad.mit.edu 37 12 56572300 56572300 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:56572300T>C uc001skb.2 - 14 1304 c.1198A>G c.(1198-1200)ACG>GCG p.T400A SMARCC2_uc001skd.2_Missense_Mutation_p.T400A|SMARCC2_uc001ska.2_Missense_Mutation_p.T400A|SMARCC2_uc001skc.2_Missense_Mutation_p.T400A|SMARCC2_uc010sqf.1_Missense_Mutation_p.T289A NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 400 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTGTTCCCCGTACTGTTCTCA 0.542 NA 5 145 0 0 0 0 MARS 4141 broad.mit.edu 37 12 57883081 57883081 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:57883081G>A uc001sog.2 + 3 255 c.232G>A c.(232-234)GAT>AAT p.D78N ARHGAP9_uc001sod.2_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_RNA|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 78 GST C-terminal. methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) CTGGGAGCAAGATGACCTCAC 0.517 NA 11 158 0 0 0 0 NUP107 57122 broad.mit.edu 37 12 69109407 69109407 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:69109407G>T uc001suf.2 + 12 1085 c.970G>T c.(970-972)GAC>TAC p.D324Y NUP107_uc001sug.2_Missense_Mutation_p.D171Y|NUP107_uc010stj.1_Missense_Mutation_p.D295Y NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 324 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CTTCTTACAGGACCCTGATGC 0.358 NA 49 109 2.08e-19 3.26e-19 1 0 TBC1D15 64786 broad.mit.edu 37 12 72278770 72278770 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:72278770G>T uc001swu.2 + 5 598 c.589G>T c.(589-591)GAA>TAA p.E197* TBC1D15_uc009zrv.2_Nonsense_Mutation_p.E76*|TBC1D15_uc010stt.1_Nonsense_Mutation_p.E183*|TBC1D15_uc001swv.2_Nonsense_Mutation_p.E197*|TBC1D15_uc001sww.2_Intron NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 175 protein binding|Rab GTPase activator activity 0 ACTACTGATTGAATCTCTTGA 0.353 NA 15 77 2.32e-05 3.17e-05 1 0 NAV3 89795 broad.mit.edu 37 12 78444768 78444768 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:78444768G>A uc001syp.2 + 11 2530 c.2357G>A c.(2356-2358)CGT>CAT p.R786H NAV3_uc001syo.2_Missense_Mutation_p.R786H|NAV3_uc010sub.1_Missense_Mutation_p.R286H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 786 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACGCCTCTCCGTCGAGCTGCT 0.557 NA HNSCC(70;0.22) 17 40 0 0 0 0 CCDC41 51134 broad.mit.edu 37 12 94806149 94806149 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:94806149A>T uc001tdd.2 - 3 704 c.118T>A c.(118-120)TTA>ATA p.L40I CCDC41_uc001tde.2_Missense_Mutation_p.L40I|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.L40I NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 32 Potential. 0 TCACATCGTAACCTTTCATCA 0.378 NA 32 116 0 0 0 0 UTP20 27340 broad.mit.edu 37 12 101750774 101750774 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:101750774C>G uc001tia.1 + 43 5761 c.5605C>G c.(5605-5607)CTT>GTT p.L1869V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1869 HEAT 2. endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ACGCAGCACTCTTGCGAAAAT 0.388 NA 28 48 0 0 0 0 RFX4 5992 broad.mit.edu 37 12 107109319 107109319 + Nonsense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:107109319C>T uc001tlr.2 + 11 1201 c.1135C>T c.(1135-1137)CAA>TAA p.Q379* RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Nonsense_Mutation_p.Q388*|RFX4_uc001tlt.2_Nonsense_Mutation_p.Q388*|RFX4_uc001tlv.2_Nonsense_Mutation_p.Q285* NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 379 Necessary for dimerization. transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 ACTCATCACCCAATGTAAGCT 0.458 NA 49 96 0 0 0 0 KCTD10 83892 broad.mit.edu 37 12 109893929 109893929 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:109893929C>A uc001toi.1 - 6 805 c.717G>T c.(715-717)CAG>CAT p.Q239H KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.Q213H|KCTD10_uc001toj.1_Missense_Mutation_p.Q248H|KCTD10_uc001tok.1_Missense_Mutation_p.Q58H NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 239 PCNA-binding (By similarity). proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 TTACCTTGGTCTGTTTCTTCT 0.473 NA 25 62 4.78e-09 6.88e-09 1 0 C12orf51 283450 broad.mit.edu 37 12 112711557 112711557 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:112711557G>C uc009zwc.2 - 4 566 c.548C>G c.(547-549)TCA>TGA p.S183* C12orf51_uc010syk.1_Nonsense_Mutation_p.S6*|C12orf51_uc001tts.2_Nonsense_Mutation_p.S6*|C12orf51_uc001ttt.3_Nonsense_Mutation_p.S6* NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 ATAGTCATTTGAGCATGTCCA 0.443 NA 9 167 0 0 0 0 HPD 3242 broad.mit.edu 37 12 122281718 122281718 + Silent SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:122281718T>C uc001ubj.2 - 12 892 c.852A>G c.(850-852)AGA>AGG p.R284R HPD_uc001ubk.2_Silent_p.R245R NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 284 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) ACTCCAGGCCTCTCTCTCTCA 0.537 NA 3 93 0 0 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123651318 123651318 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:123651318G>A uc001uel.2 - 13 2126 c.2019C>T c.(2017-2019)GAC>GAT p.D673D MPHOSPH9_uc010tal.1_Silent_p.D127D|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.D127D NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 673 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GCCTGCTGACGTCTGAAGTTG 0.473 NA 73 146 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124408924 124408924 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:124408924A>G uc001uft.3 + 66 11382 c.11357A>G c.(11356-11358)GAC>GGC p.D3786G DNAH10_uc001ufu.3_5'Flank NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3786 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGTTTTCAGACAACTTTGGG 0.453 NA 14 38 0 0 0 0 UBC 7316 broad.mit.edu 37 12 125397588 125397588 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:125397588C>G uc001ugs.3 - 2 1178 c.730G>C c.(730-732)GAG>CAG p.E244Q UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.E244Q|UBC_uc001ugt.2_Missense_Mutation_p.E244Q|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.E92Q NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 244 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGCTCGACCTCAAGGGTGATG 0.512 NA 21 330 0 0 0 0 ATP12A 479 broad.mit.edu 37 13 25263504 25263504 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:25263504G>C uc001upp.2 + 5 724 c.537G>C c.(535-537)ATG>ATC p.M179I ATP12A_uc010aaa.2_Missense_Mutation_p.M179I NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 179 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TCAATAAGATGATCCCTCAGG 0.552 NA 20 124 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29599738 29599738 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:29599738A>T uc001usl.3 + 1 991 c.933A>T c.(931-933)TTA>TTT p.L311F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 301 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AAGCACAATTAGGTCAGGGAA 0.517 NA 19 24 0 0 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33016826 33016826 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:33016826C>T uc010abe.1 - 7 1870 c.1848G>A c.(1846-1848)CTG>CTA p.L616L N4BP2L2_uc001uug.2_Silent_p.L499L|N4BP2L2_uc010abd.1_Silent_p.L529L|N4BP2L2_uc001uuh.2_Silent_p.L447L|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.L601L NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AAGTCAAAAACAGTTTCTTGT 0.323 NA 25 30 0 0 0 0 PDS5B 23047 broad.mit.edu 37 13 33281144 33281144 + Missense_Mutation SNP C C G rs141013786 by1000genomes TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:33281144C>G uc010abf.2 + 18 2088 c.1930C>G c.(1930-1932)CAA>GAA p.Q644E PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 644 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TCCAACTGATCAAGCCATCAG 0.313 NA 12 73 0 0 0 0 STOML3 161003 broad.mit.edu 37 13 39564848 39564848 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:39564848C>A uc001uwx.2 - 1 149 c.11G>T c.(10-12)AGG>ATG p.R4M STOML3_uc010tez.1_Translation_Start_Site NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 4 integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TGAAGACACCCTAGAATCCAT 0.408 NA 10 98 0.000219431 0.000296274 1 0 RB1 5925 broad.mit.edu 37 13 48955580 48955580 + Splice_Site SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:48955580G>A uc001vcb.2 + 17 1861 c.1695_splice c.e17+1 p.S565_splice NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(4) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGGCTCTCAGTAAGTAGCTA 0.343 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 13 15 0 0 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281892 49281893 + Missense_Mutation DNP GG GG TT TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:49281892_49281893GG>TT uc010acx.1 + 6 1622_1623 c.939_940GG>TT c.(937-942)AAGGAC>AATTAC p.313_314KD>NY CYSLTR2_uc010acy.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010acz.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010ada.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010adb.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010adc.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010add.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc010acw.1_Missense_Mutation_p.313_314KD>NY|CYSLTR2_uc001vck.2_Missense_Mutation_p.313_314KD>NY NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 313_314 Cytoplasmic (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) AGAATTTTAAGGACAGACTAAA 0.441 NA 55 50 0 0 0 0 PCCA 5095 broad.mit.edu 37 13 100807338 100807338 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr13:100807338G>T uc001voo.2 + 5 444 c.406G>T c.(406-408)GCC>TCC p.A136S PCCA_uc010aga.2_Missense_Mutation_p.A110S|PCCA_uc010tiz.1_Missense_Mutation_p.A136S NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 136 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) GAAAACCAGGGCCCAAGCTGT 0.423 NA 103 52 7.35e-47 1.24e-46 1 0 POTEG 404785 broad.mit.edu 37 14 19553818 19553818 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:19553818C>G uc001vuz.1 + 1 454 c.402C>G c.(400-402)CAC>CAG p.H134Q POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 134 ovary(1) 1 CGAGGTACCACGTCCGTCGAG 0.587 NA 23 458 0 0 0 0 FOXG1 2290 broad.mit.edu 37 14 29237608 29237608 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:29237608G>T uc001wqe.2 + 1 1322 c.1123G>T c.(1123-1125)GCC>TCC p.A375S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 375 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development 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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GATCCCGTACGCCACGCACCA 0.677 NA 40 88 2.76e-19 4.3e-19 1 0 FOXA1 3169 broad.mit.edu 37 14 38060620 38060620 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:38060620G>A uc001wuf.2 - 2 1681 c.1369C>T c.(1369-1371)CCG>TCG p.P457S FOXA1_uc010tpz.1_Missense_Mutation_p.P424S NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 457 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TAGTACGCCGGCTCCAGGGCT 0.612 NA 4 103 0 0 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060786 58060786 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:58060786G>A uc001xdb.1 - 2 268 c.268C>T c.(268-270)CAC>TAC p.H90Y SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_5'UTR NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 ATGCCACTGTGTGAACTGGGG 0.488 NA 18 27 0 0 0 0 SYT16 83851 broad.mit.edu 37 14 62550913 62550913 + Splice_Site SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:62550913G>A uc001xfu.1 + 5 1632 c.1435_splice c.e5-1 p.S479_splice SYT16_uc010tse.1_Splice_Site_p.S37_splice NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TTCCCCTCCAGAGTGGAGGGT 0.522 NA 42 148 0 0 0 0 ZBTB25 7597 broad.mit.edu 37 14 64954378 64954378 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:64954378G>A uc001xhf.2 - 3 754 c.571C>T c.(571-573)CAG>TAG p.Q191* ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q191* NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 191 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TCCAGGGCCTGGGTGGCAGGA 0.592 NA 141 286 0 0 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029252 68029252 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:68029252A>T uc001xjl.1 + 7 1046 c.904A>T c.(904-906)AGG>TGG p.R302W NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 302 cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GACCTCTGCCAGGGAAGGTGG 0.592 NA 15 49 0 0 0 0 SLC39A9 55334 broad.mit.edu 37 14 69919976 69919976 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:69919976C>G uc001xle.2 + 4 1102 c.422C>G c.(421-423)TCT>TGT p.S141C SLC39A9_uc010aqx.2_Intron|SLC39A9_uc001xlf.3_Missense_Mutation_p.S141C|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 141 zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) GCAGCAAGGTCTAGCAATTCC 0.448 NA 7 199 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86088200 86088200 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:86088200C>T uc001xvr.2 + 2 1109 c.342C>T c.(340-342)CTC>CTT p.L114L FLRT2_uc010atd.2_Silent_p.L114L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 114 LRR 3.|Extracellular (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) TCAGAGTTCTCCATTTGCAGG 0.493 NA 61 133 0 0 0 0 PTPN21 11099 broad.mit.edu 37 14 88983571 88983571 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:88983571T>G uc001xwv.3 - 3 546 c.215A>C c.(214-216)CAA>CCA p.Q72P PTPN21_uc010twc.1_5'UTR|PTPN21_uc010atf.1_Missense_Mutation_p.Q72P NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 72 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 GCGCTGATTTTGCTTGTTGTA 0.423 NA 50 112 0 0 0 0 CPSF2 53981 broad.mit.edu 37 14 92625450 92625450 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:92625450G>T uc001yah.1 + 14 2182 c.1945G>T c.(1945-1947)GAA>TAA p.E649* NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 649 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) GGTTATTTTAGAAGAAGGAGA 0.413 NA 31 62 6.04e-23 9.69e-23 1 0 RCOR1 23186 broad.mit.edu 37 14 103188673 103188673 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:103188673G>C uc001ymb.2 + 11 1330 c.1330G>C c.(1330-1332)GAA>CAA p.E444Q NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 444 blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 ACATGGTAAAGAAGAGACCAA 0.413 NA 21 277 0 0 0 0 GJD2 57369 broad.mit.edu 37 15 35045073 35045073 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:35045073C>A uc001zis.1 - 2 572 c.572G>T c.(571-573)AGG>ATG p.R191M uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 191 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GCCTTCCTGCCTTCTGAGCTT 0.478 NA 91 142 2.06e-34 3.43e-34 1 0 BUB1B 701 broad.mit.edu 37 15 40462766 40462766 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:40462766C>T uc001zkx.3 + 4 480 c.268C>T c.(268-270)CCT>TCT p.P90S NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 90 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GCAGAACTATCCTCAAGGTGG 0.373 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 10 104 0 0 0 0 GANC 2595 broad.mit.edu 37 15 42632035 42632035 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:42632035G>T uc001zpi.2 + 17 2326 c.2012G>T c.(2011-2013)AGA>ATA p.R671I NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 671 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GAAGCCATCAGAGAGCGCTAT 0.542 NA 40 75 7.53e-24 1.22e-23 1 0 SLC12A1 6557 broad.mit.edu 37 15 48577394 48577394 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:48577394C>T uc001zwn.3 + 21 2793 c.2577C>T c.(2575-2577)GGC>GGT p.G859G SLC12A1_uc010uew.1_Silent_p.G665G|SLC12A1_uc001zwq.3_Silent_p.G630G|SLC12A1_uc001zwr.3_Silent_p.G586G NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 859 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCATCCGAGGCTTGTTTAAAA 0.363 NA 66 131 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48730063 48730063 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:48730063G>A uc001zwx.1 - 51 6543 c.6215C>T c.(6214-6216)TCA>TTA p.S2072L FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2072 TB 8. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGATTTGGGTGATGAACACTT 0.502 NA 14 167 0 0 0 0 USP8 9101 broad.mit.edu 37 15 50773685 50773685 + Missense_Mutation SNP G G T rs114434131 by1000genomes TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:50773685G>T uc001zym.3 + 12 1726 c.1226G>T c.(1225-1227)CGT>CTT p.R409L USP8_uc001zyk.1_Missense_Mutation_p.R110L|USP8_uc001zyl.3_Missense_Mutation_p.R409L|USP8_uc001zyn.3_Missense_Mutation_p.R409L|USP8_uc010ufh.1_Missense_Mutation_p.R332L|USP8_uc010bev.1_Missense_Mutation_p.R38L NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 409 SH3-binding (By similarity). cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TAGATTGATCGTACTAAAAAA 0.358 NA 15 25 1.52e-12 2.26e-12 1 0 TRPM7 54822 broad.mit.edu 37 15 50902065 50902065 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:50902065G>A uc001zyt.3 - 18 2638 c.2374C>T c.(2374-2376)CAT>TAT p.H792Y TRPM7_uc010bew.1_Missense_Mutation_p.H792Y|TRPM7_uc001zyu.2_Missense_Mutation_p.H350Y NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 792 Extracellular (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GTCATCTGATGAGCATCTTGA 0.358 NA 35 88 0 0 0 0 PRTG 283659 broad.mit.edu 37 15 55929374 55929374 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:55929374G>T uc002adg.2 - 15 2665 c.2617C>A c.(2617-2619)CGT>AGT p.R873S NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 873 Fibronectin type-III 5. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTACCTTCACGGTGTAAGACC 0.393 NA 53 109 5.14e-22 8.21e-22 1 0 FAM63B 54629 broad.mit.edu 37 15 59146757 59146757 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:59146757G>C uc002afj.2 + 9 2016 c.1814G>C c.(1813-1815)CGA>CCA p.R605P FAM63B_uc002afi.2_Missense_Mutation_p.R604P|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 605 central_nervous_system(1) 1 AAGGAACCACGAGAAAAAGAT 0.383 NA 12 67 0 0 0 0 GTF2A2 2958 broad.mit.edu 37 15 59934436 59934436 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:59934436C>A uc002agg.2 - 4 385 c.203G>T c.(202-204)TGC>TTC p.C68F NM_004492 NP_004483 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa 68 interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIIA complex protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity central_nervous_system(2) 2 CACATTATCGCAGAATCTGTA 0.343 NA 37 104 3.76e-14 5.66e-14 1 0 MAP2K1 5604 broad.mit.edu 37 15 66777514 66777514 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:66777514G>A uc010bhq.2 + 7 1355 c.880G>A c.(880-882)GGG>AGG p.G294R MAP2K1_uc010ujp.1_Missense_Mutation_p.G272R NM_002755 NP_002746 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 294 Protein kinase.|Pro-rich. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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 cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 AAGGACCCCCGGGAGGCCCCT 0.607 NA Cardiofaciocutaneous_syndrome 21 79 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79292109 79292109 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:79292109G>T uc002beq.2 - 18 3145 c.2770C>A c.(2770-2772)CGG>AGG p.R924R RASGRF1_uc002bep.2_Silent_p.R908R|RASGRF1_uc010blm.1_Silent_p.R833R|RASGRF1_uc002ber.3_Silent_p.R908R|RASGRF1_uc010unh.1_Silent_p.R319R|RASGRF1_uc002beo.2_Silent_p.R140R NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 926 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GACATCCTCCGGTACTTCTCC 0.607 NA 38 120 9.89e-21 1.56e-20 1 0 EFTUD1 79631 broad.mit.edu 37 15 82523196 82523196 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:82523196C>A uc002bgt.1 - 8 1017 c.848G>T c.(847-849)GGT>GTT p.G283V EFTUD1_uc002bgu.1_Missense_Mutation_p.G232V NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 283 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 TACCTGATCACCCTTCATGAT 0.323 NA 8 135 0.00307968 0.00407266 1 0 MRPS11 64963 broad.mit.edu 37 15 89015921 89015921 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:89015921G>A uc002bml.2 + 3 511 c.246G>A c.(244-246)GAG>GAA p.E82E MRPS11_uc002bmm.2_Intron|MRPS11_uc002bmn.2_Silent_p.E81E|MRPS11_uc010bnj.2_RNA NM_022839 NP_073750 P82912 RT11_HUMAN mitochondrial ribosomal protein S11 isoform a 82 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) AATTTGAGGAGATCCCAATTG 0.443 NA 4 56 0 0 0 0 MFGE8 4240 broad.mit.edu 37 15 89453073 89453073 + Missense_Mutation SNP G G A rs145851768 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:89453073G>A uc002bng.3 - 2 268 c.155C>T c.(154-156)TCG>TTG p.S52L MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Missense_Mutation_p.S52L|MFGE8_uc010bnn.2_Missense_Mutation_p.S44L|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Missense_Mutation_p.S52L|MFGE8_uc010bno.2_Intron NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 52 EGF-like. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) GCAGGTGTACGAGGGGAAGAC 0.542 NA 38 225 0 0 0 0 FANCI 55215 broad.mit.edu 37 15 89837176 89837176 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:89837176G>A uc010bnp.1 + 23 2494 c.2404G>A c.(2404-2406)GAT>AAT p.D802N FANCI_uc002bnm.1_Missense_Mutation_p.D802N|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.D623N|FANCI_uc002bnq.1_Missense_Mutation_p.D215N NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 802 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) CAAGACAAGTGATAGTCTTTT 0.398 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 27 139 0 0 0 0 POLG 5428 broad.mit.edu 37 15 89862533 89862533 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:89862533G>A uc002bns.3 - 19 3312 c.3030C>T c.(3028-3030)CTC>CTT p.L1010L POLG_uc002bnr.3_Silent_p.L1010L NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 1010 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TGTCCACTGGGAGGTTCAACT 0.557 NA DNA_polymerases_(catalytic_subunits) 4 73 0 0 0 0 FES 2242 broad.mit.edu 37 15 91436009 91436009 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:91436009G>C uc002bpv.2 + 14 1876 c.1780G>C c.(1780-1782)GAG>CAG p.E594Q FES_uc010uqj.1_Missense_Mutation_p.E466Q|FES_uc010uqk.1_Missense_Mutation_p.E576Q|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.E466Q|FES_uc002bpx.2_Missense_Mutation_p.E524Q|FES_uc002bpy.2_Missense_Mutation_p.E536Q NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 594 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GTCTTGTCGAGAGACGCTCCC 0.572 NA 8 125 0 0 0 0 MCTP2 55784 broad.mit.edu 37 15 94928705 94928705 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr15:94928705G>T uc002btj.2 + 13 1804 c.1739G>T c.(1738-1740)GGA>GTA p.G580V MCTP2_uc002bti.2_Missense_Mutation_p.G580V|MCTP2_uc010boj.2_Missense_Mutation_p.G309V|MCTP2_uc010bok.2_Missense_Mutation_p.G580V|MCTP2_uc002btk.3_Missense_Mutation_p.G168V|MCTP2_uc002btl.2_Missense_Mutation_p.G168V NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 580 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GATGAAGATGGAGATAAACCC 0.338 NA 74 263 7.09e-46 1.2e-45 1 0 HBM 3042 broad.mit.edu 37 16 216015 216015 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:216015C>A uc002cfu.1 + 1 43 c.19C>A c.(19-21)CGC>AGC p.R7S NM_001003938 NP_001003938 Q6B0K9 HBM_HUMAN hemoglobin mu chain 7 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CGCCCAGGAGCGCGCCCAAAT 0.721 NA 9 21 0.000442599 0.000594192 1 0 ACSM5 54988 broad.mit.edu 37 16 20439173 20439173 + Nonsense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:20439173C>T uc002dhe.2 + 7 1132 c.985C>T c.(985-987)CAG>TAG p.Q329* NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 329 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 GCTGCTTGTGCAGGAGGATCT 0.463 NA 6 231 0 0 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476886 20476886 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:20476886G>A uc010bwe.2 + 4 464 c.225G>A c.(223-225)AAG>AAA p.K75K ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.3_Silent_p.K75K|ACSM2A_uc002dhg.3_Silent_p.K75K|ACSM2A_uc010vay.1_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 75 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 TGAATGGGAAGGGGAAGGAAT 0.572 NA 6 72 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570722 20570722 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:20570722C>T uc002dhj.3 - 4 435 c.225G>A c.(223-225)AAG>AAA p.K75K ACSM2B_uc002dhk.3_Silent_p.K75K|ACSM2B_uc010bwf.1_Silent_p.K75K NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 75 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 ATTCCTTCCCCTTCCCATTCA 0.557 NA 18 31 0 0 0 0 ZP2 7783 broad.mit.edu 37 16 21215680 21215680 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:21215680T>C uc002dii.2 - 8 739 c.739A>G c.(739-741)ATA>GTA p.I247V ZP2_uc010bwn.1_Missense_Mutation_p.I286V|ZP2_uc010bwo.2_Missense_Mutation_p.I286V NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 247 Extracellular (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) CCAGGAGATATAAATGTAAGC 0.428 NA 32 40 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24958893 24958893 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:24958893T>C uc002dnb.2 - 14 1244 c.1151A>G c.(1150-1152)AAG>AGG p.K384R ARHGAP17_uc002dna.2_Missense_Mutation_p.K111R|ARHGAP17_uc002dnc.2_Missense_Mutation_p.K384R|ARHGAP17_uc010vcf.1_Missense_Mutation_p.K205R NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 384 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CTGAGCAAGCTTTGCAAGGAA 0.463 NA 3 71 0 0 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456514 30456514 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:30456514C>A uc010ves.1 - 2 711 c.535G>T c.(535-537)GTC>TTC p.V179F SEPHS2_uc002dyh.1_Missense_Mutation_p.V122F|SEPHS2_uc010vet.1_Missense_Mutation_p.V61F NM_012248 NP_036380 Q99611 SPS2_HUMAN selenophosphate synthetase 2 179 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(2) 2 CTCTGGCTGACGCTGAGTAAC 0.547 NA 62 75 2.73e-28 4.45e-28 1 0 ITGAL 3683 broad.mit.edu 37 16 30495265 30495265 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:30495265C>T uc002dyi.3 + 8 1016 c.840C>T c.(838-840)ATC>ATT p.I280I ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Silent_p.I197I|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 280 VWFA.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) AAGACATCATCCGCTACATCA 0.582 NA 5 249 0 0 0 0 RNF40 9810 broad.mit.edu 37 16 30779633 30779633 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:30779633G>A uc002dzq.2 + 13 1884 c.1761G>A c.(1759-1761)GAG>GAA p.E587E RNF40_uc010caa.2_Silent_p.E587E|RNF40_uc010cab.2_Silent_p.E487E|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Silent_p.E587E|RNF40_uc010vfb.1_Silent_p.E279E|RNF40_uc010vfc.1_5'UTR NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 587 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CCTCTGAAGAGGACTTCCAGG 0.622 NA 15 28 0 0 0 0 C16orf57 79650 broad.mit.edu 37 16 58043902 58043902 + Missense_Mutation SNP G G A rs142683238 byFrequency TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:58043902G>A uc002emz.2 + 3 418 c.335G>A c.(334-336)CGG>CAG p.R112Q C16orf57_uc010via.1_Missense_Mutation_p.R112Q|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.R112Q|C16orf57_uc010vic.1_Missense_Mutation_p.R61Q NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 112 0 TATGTCCCCCGGCTGGTAAGG 0.592 NA 9 260 0 0 0 0 CA7 766 broad.mit.edu 37 16 66881111 66881111 + Silent SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:66881111T>C uc002eqi.2 + 2 328 c.219T>C c.(217-219)AAT>AAC p.N73N uc002eqh.2_Intron|CA7_uc002eqj.2_Silent_p.N17N NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 73 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) TAGACTTCAATGACAGCGATG 0.582 NA 23 46 0 0 0 0 PARD6A 50855 broad.mit.edu 37 16 67694944 67694944 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:67694944G>C uc002ett.2 + 1 94 c.3G>C c.(1-3)ATG>ATC p.M1I ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.M1I|PARD6A_uc002etu.2_5'Flank NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 1 Interaction with PRKCI and PRKCZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) gccccgccATGGCCCGGCCGC 0.363 NA 23 47 0 0 0 0 EDC4 23644 broad.mit.edu 37 16 67913615 67913615 + Nonsense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:67913615G>T uc002eur.2 + 15 1925 c.1759G>T c.(1759-1761)GAG>TAG p.E587* EDC4_uc010cer.2_Nonsense_Mutation_p.E206*|EDC4_uc010vkg.1_Nonsense_Mutation_p.E519*|EDC4_uc010ces.1_Nonsense_Mutation_p.E375*|EDC4_uc002eus.2_Nonsense_Mutation_p.E317*|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 587 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TCTGAGCAGTGAGACCAAGCC 0.632 NA 7 231 0.000274275 0.000368916 1 0 SLC7A6OS 84138 broad.mit.edu 37 16 68337973 68337973 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:68337973C>G uc002evw.1 - 3 653 c.634G>C c.(634-636)GAG>CAG p.E212Q NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 212 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) AGGATGTTCTCAATCCAGCCT 0.527 NA 10 145 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68729192 68729192 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:68729192G>A uc002ewf.2 + 14 3169 c.2037G>A c.(2035-2037)AAG>AAA p.K679K CDH3_uc010vli.1_Silent_p.K624K NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 679 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGGTGAGAAAGAAGCGGAAGA 0.587 NA 11 73 0 0 0 0 CHST4 10164 broad.mit.edu 37 16 71570718 71570718 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:71570718G>T uc002fan.2 + 2 319 c.138G>T c.(136-138)CTG>CTT p.L46L CHST4_uc002fao.2_Silent_p.L46L NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 46 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 TGCACGTGCTGGTTCTGTCTT 0.557 NA 5 189 0.000602214 0.000802385 1 0 ATP2C2 9914 broad.mit.edu 37 16 84485542 84485542 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:84485542C>G uc002fhx.2 + 18 1765 c.1676C>G c.(1675-1677)TCT>TGT p.S559C ATP2C2_uc010chj.2_Missense_Mutation_p.S559C|ATP2C2_uc002fhy.2_Missense_Mutation_p.S576C|ATP2C2_uc002fhz.2_Missense_Mutation_p.S408C NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 559 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 GCCCTGGCTTCTGGGCCCGAG 0.542 NA 25 308 0 0 0 0 ANKRD11 29123 broad.mit.edu 37 16 89371734 89371734 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr16:89371734G>C uc002fmx.1 - 4 567 c.106C>G c.(106-108)CTA>GTA p.L36V ANKRD11_uc002fmy.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnc.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnd.2_5'UTR|ANKRD11_uc002fne.2_5'UTR|ANKRD11_uc002fng.1_Missense_Mutation_p.L36V|ANKRD11_uc002fnf.1_Missense_Mutation_p.L36V NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 36 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GTCTTGGTTAGAGAAACTTTA 0.507 NA 7 115 0 0 0 0 SMYD4 114826 broad.mit.edu 37 17 1703541 1703541 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:1703541C>T uc002ftm.3 - 5 1315 c.1147G>A c.(1147-1149)GAA>AAA p.E383K SMYD4_uc002ftn.1_Missense_Mutation_p.E238K NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 383 zinc ion binding skin(3)|kidney(2) 5 TTGTTGCTTTCAGGTAAACAG 0.418 NA 17 196 0 0 0 0 RPA1 6117 broad.mit.edu 37 17 1747221 1747221 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:1747221G>A uc002fto.2 + 3 207 c.92G>A c.(91-93)CGT>CAT p.R31H NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 31 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 TAGAACATCCGTCCCATTACT 0.488 NA NER 69 36 0 0 0 0 METT10D 79066 broad.mit.edu 37 17 2323539 2323539 + Nonsense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:2323539C>A uc002fut.2 - 10 1562 c.1414G>T c.(1414-1416)GGA>TGA p.G472* METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Nonsense_Mutation_p.G254* NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 472 methyltransferase activity 0 TCCACCCCTCCCTTTTCCTCA 0.617 NA 95 281 6.45e-38 1.08e-37 1 0 CAMTA2 23125 broad.mit.edu 37 17 4883457 4883457 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:4883457C>A uc002gah.1 - 9 1268 c.1160G>T c.(1159-1161)GGC>GTC p.G387V CAMTA2_uc010cku.1_Missense_Mutation_p.G410V|CAMTA2_uc002gag.1_Missense_Mutation_p.G386V|CAMTA2_uc002gai.1_Missense_Mutation_p.G389V|CAMTA2_uc010ckv.1_Missense_Mutation_p.G34V|CAMTA2_uc010vsu.1_Missense_Mutation_p.G200V NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 387 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 ATATGTCTGGCCCCTCTGGGG 0.617 NA 28 79 4.78e-09 6.88e-09 1 0 MYH4 4622 broad.mit.edu 37 17 10353772 10353772 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:10353772G>T uc002gmn.2 - 30 4290 c.4179C>A c.(4177-4179)GCC>GCA p.A1393A uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1393 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCACATACTTGGCCTCCTCCA 0.517 NA 83 171 2.93e-43 4.95e-43 1 0 MYO15A 51168 broad.mit.edu 37 17 18070960 18070960 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:18070960C>T uc010vxh.1 + 61 10343 c.10005C>T c.(10003-10005)AGC>AGT p.S3335S MYO15A_uc010vxi.1_Silent_p.S599S|MYO15A_uc010vxk.1_Silent_p.S28S|MYO15A_uc010vxl.1_Silent_p.S324S|MYO15A_uc002gsl.2_Silent_p.S342S|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3335 Tail.|FERM. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCCGGCCCAGCGAGCAGCTGC 0.662 NA 23 45 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29490331 29490331 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:29490331C>G uc002hgg.2 + 4 749 c.416C>G c.(415-417)TCT>TGT p.S139C NF1_uc002hge.1_Missense_Mutation_p.S139C|NF1_uc002hgf.1_Missense_Mutation_p.S139C|NF1_uc002hgh.2_Missense_Mutation_p.S139C|NF1_uc010csn.1_Missense_Mutation_p.L35V NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 139 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(5)|p.?(4) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATTCTGCCTCTGGGGTTTTA 0.443 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 3 96 0 0 0 0 NF1 4763 broad.mit.edu 37 17 29528502 29528502 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:29528502A>T uc002hgg.2 + 11 1592 c.1259A>T c.(1258-1260)AAT>ATT p.N420I NF1_uc002hge.1_Missense_Mutation_p.N420I|NF1_uc002hgf.1_Missense_Mutation_p.N420I|NF1_uc002hgh.2_Missense_Mutation_p.N420I|NF1_uc010csn.1_Missense_Mutation_p.N280I NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 420 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATCATCACCAATGTAAGTCCA 0.313 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 148 90 0 0 0 0 EVI2B 2124 broad.mit.edu 37 17 29631403 29631403 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:29631403C>T uc002hgk.2 - 2 1380 c.1225G>A c.(1225-1227)GAT>AAT p.D409N NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.D424N NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 409 Cytoplasmic (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTCATAAAATCTACTGGTGGC 0.423 NA 40 91 0 0 0 0 MYO19 80179 broad.mit.edu 37 17 34863652 34863652 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:34863652C>G uc010wcy.1 - 16 2335 c.1343G>C c.(1342-1344)AGG>ACG p.R448T MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 448 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCTGGGCCCTTAGGTAGTG 0.512 NA 14 29 0 0 0 0 KRT24 192666 broad.mit.edu 37 17 38858167 38858167 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:38858167C>G uc002hvd.2 - 2 691 c.634G>C c.(634-636)GAA>CAA p.E212Q NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 212 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CCAGCATTTTCAACAGTGGCA 0.393 NA 3 48 0 0 0 0 KRT24 192666 broad.mit.edu 37 17 38859533 38859533 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:38859533C>G uc002hvd.2 - 1 470 c.413G>C c.(412-414)GGA>GCA p.G138A NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 138 Head.|Gly-rich. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CTTTTCCCCTCCAGAGAAAAG 0.522 NA 30 371 0 0 0 0 KRT25 147183 broad.mit.edu 37 17 38906696 38906696 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:38906696C>G uc002hve.2 - 6 1172 c.1111G>C c.(1111-1113)GAC>CAC p.D371H NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 371 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity p.D371N(1) ovary(2) 2 Breast(137;0.00526) AGCTTGATGTCCAGGAGCTGC 0.527 NA 91 337 0 0 0 0 KRT25 147183 broad.mit.edu 37 17 38906822 38906822 + Nonsense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:38906822C>A uc002hve.2 - 6 1046 c.985G>T c.(985-987)GAG>TAG p.E329* NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 329 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) CTCTCGGTCTCTGTCAAGGAG 0.527 NA 64 311 7.76e-34 1.29e-33 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:39274087G>C uc002hvz.2 - 1 520 c.481C>G c.(481-483)CTG>GTG p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.323 NA 3 30 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67197788 67197788 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:67197788G>A uc010dfa.1 - 11 1907 c.1028C>T c.(1027-1029)TCT>TTT p.S343F ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Intron NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 343 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) AAATAATGGAGAATCCCCATG 0.318 NA 13 56 0 0 0 0 C17orf95 124512 broad.mit.edu 37 17 74729274 74729274 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:74729274C>G uc002jsr.2 + 3 631 c.299C>G c.(298-300)TCT>TGT p.S100C C17orf95_uc002jsp.2_Missense_Mutation_p.S100C|C17orf95_uc002jsq.2_RNA|C17orf95_uc002jss.2_Missense_Mutation_p.S100C|C17orf95_uc002jst.2_Missense_Mutation_p.S33C|C17orf95_uc002jsu.2_Intron|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank NM_001080510 NP_001073979 Q86XA0 MET23_HUMAN hypothetical protein LOC124512 100 integral to membrane methyltransferase activity 0 ATCCTTGCATCTGATGTGTTC 0.403 NA 4 60 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78327389 78327389 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:78327389G>C uc002jyh.1 + 9 4943 c.4720G>C c.(4720-4722)GAG>CAG p.E1574Q uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGAGGTGGCAGAGGTGGCAGA 0.567 NA 5 78 0 0 0 0 KIAA0802 23255 broad.mit.edu 37 18 8783661 8783661 + Missense_Mutation SNP A A C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:8783661A>C uc002knr.2 + 6 693 c.551A>C c.(550-552)TAT>TCT p.Y184S KIAA0802_uc002knq.2_Missense_Mutation_p.Y184S|KIAA0802_uc010dkw.1_Missense_Mutation_p.Y22S NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 535 Potential. 0 AAGTCCCTCTATGGGGATGTG 0.612 NA 3 44 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14542977 14542977 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:14542977G>A uc010dln.2 - 1 623 c.169C>T c.(169-171)CTC>TTC p.L57F POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 57 skin(3) 3 TTGCTCCTGAGCATCTTCATA 0.587 NA 108 687 0 0 0 0 DSG3 1830 broad.mit.edu 37 18 29052738 29052738 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:29052738C>T uc002kws.2 + 14 2197 c.2088C>T c.(2086-2088)TTC>TTT p.F696F DSG3_uc002kwt.2_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 696 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAGCCGATTTCATGGAAAGTT 0.323 NA 4 53 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31325388 31325388 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:31325388G>T uc010dmg.1 + 12 5631 c.5576G>T c.(5575-5577)TGT>TTT p.C1859F ASXL3_uc002kxq.2_Missense_Mutation_p.C1566F NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1859 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GGGGTGCCTTGTGTCATCAGT 0.468 NA 18 548 1.34e-09 1.94e-09 1 0 ELP2 55250 broad.mit.edu 37 18 33750144 33750144 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:33750144T>G uc002kzk.1 + 20 2205 c.2195T>G c.(2194-2196)CTC>CGC p.L732R ELP2_uc010xcg.1_Missense_Mutation_p.L797R|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.L706R|ELP2_uc010xch.1_Missense_Mutation_p.L727R|ELP2_uc002kzn.1_Missense_Mutation_p.L662R|ELP2_uc002kzo.1_Missense_Mutation_p.L662R NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 732 WD 13. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TGCCCAGTGCTCCACCCTTCT 0.512 NA 54 98 0 0 0 0 RIT2 6014 broad.mit.edu 37 18 40613778 40613778 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:40613778A>G uc002lav.2 - 2 331 c.158T>C c.(157-159)ATA>ACA p.I53T RIT2_uc010dnf.2_Missense_Mutation_p.I53T NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 53 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 CCACTTACCTATAGTAGGGTC 0.308 NA 21 17 0 0 0 0 SLC14A1 6563 broad.mit.edu 37 18 43310367 43310367 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr18:43310367A>G uc010xcn.1 + 4 401 c.82A>G c.(82-84)AGA>GGA p.R28G SLC14A1_uc010dnk.2_Missense_Mutation_p.R84G|SLC14A1_uc002lbf.3_Missense_Mutation_p.R28G|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.R84G|SLC14A1_uc002lbk.3_Missense_Mutation_p.R28G NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 28 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 ATGTCAAGGGAGAAGGTGCTT 0.498 NA 6 121 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2109958 2109958 + Splice_Site SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:2109958C>G uc002luz.2 - 27 3302 c.3079_splice c.e27-1 p.N1027_splice AP3D1_uc010dsv.2_Splice_Site_p.N117_splice|AP3D1_uc002luy.2_Splice_Site_p.N986_splice|AP3D1_uc002lva.2_Splice_Site_p.N1089_splice NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGTCATTCTGCGGTGGAG 0.642 NA 19 56 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6924814 6924814 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:6924814G>T uc002mfw.2 + 15 1955 c.1917G>T c.(1915-1917)CTG>CTT p.L639L EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Silent_p.L587L|EMR1_uc010xji.1_Silent_p.L498L|EMR1_uc010xjj.1_Silent_p.L462L NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 639 Helical; Name=2; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) ACCTCCACCTGCACCTCTGCG 0.552 NA 35 111 5.44e-19 8.45e-19 1 0 PCP2 126006 broad.mit.edu 37 19 7697683 7697683 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:7697683G>A uc002mgz.2 - 2 312 c.85C>T c.(85-87)CTG>TTG p.L29L NM_174895 NP_777555 Q8IVA1 PCP2_HUMAN Purkinje cell protein 2 29 GoLoco 1. signal transduction GTPase activator activity 0 TGGCTCAGCAGATTGAAGAAG 0.672 NA 5 4 0 0 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965435 7965435 + Silent SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:7965435A>T uc002mir.2 + 3 2129 c.2028A>T c.(2026-2028)TCA>TCT p.S676S NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 676 integral to membrane lung(1)|pancreas(1) 2 GCCTGTGCTCAGGCCTCCGTC 0.632 NA 36 63 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9003657 9003657 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:9003657T>G uc002mkp.2 - 49 40187 c.39983A>C c.(39982-39984)AAT>ACT p.N13328T MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.N145T|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13330 Extracellular (Potential).|SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGGTAAAATTGAGGGTGAA 0.483 NA 33 379 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9069584 9069584 + Silent SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:9069584A>T uc002mkp.2 - 3 18066 c.17862T>A c.(17860-17862)GCT>GCA p.A5954A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5956 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCACAGGGAGAGCAGAAGTGG 0.488 NA 54 107 0 0 0 0 GADD45GIP1 90480 broad.mit.edu 37 19 13067806 13067806 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:13067806G>A uc002mwb.2 - 1 245 c.221C>T c.(220-222)TCG>TTG p.S74L NM_052850 NP_443082 Q8TAE8 G45IP_HUMAN growth arrest and DNA-damage-inducible, gamma 74 cell cycle|interspecies interaction between organisms nucleus protein binding ovary(1)|skin(1) 2 CGGCCATAACGAACCGGGGAC 0.706 NA 17 26 0 0 0 0 RFX1 5989 broad.mit.edu 37 19 14090331 14090331 + Silent SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:14090331T>A uc002mxv.2 - 7 1034 c.762A>T c.(760-762)CCA>CCT p.P254P RFX1_uc010dzi.2_Silent_p.P254P NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 254 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) TGGGCGCTTGTGGAGTGGCCT 0.642 NA 38 120 0 0 0 0 ZNF14 7561 broad.mit.edu 37 19 19822966 19822966 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:19822966G>A uc002nnk.1 - 4 1278 c.1124C>T c.(1123-1125)TCC>TTC p.S375F NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 375 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) AAGAGAAATGGACCAACTGAA 0.373 NA 17 116 0 0 0 0 MAG 4099 broad.mit.edu 37 19 35800952 35800952 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:35800952G>T uc002nyy.1 + 8 1556 c.1407G>T c.(1405-1407)GTG>GTT p.V469V MAG_uc002nyx.1_Silent_p.V469V|MAG_uc010eds.1_Silent_p.V444V|MAG_uc002nyz.1_Silent_p.V469V NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 469 Ig-like C2-type 4.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCGGCCTCGTGCTCACCAGCA 0.687 NA 44 46 6.69e-21 1.06e-20 1 0 APLP1 333 broad.mit.edu 37 19 36362534 36362534 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:36362534C>T uc002oce.2 + 5 696 c.558C>T c.(556-558)CTC>CTT p.L186L APLP1_uc010xsz.1_Silent_p.L147L|APLP1_uc002ocf.2_Silent_p.L186L|APLP1_uc002ocg.2_Silent_p.L89L|APLP1_uc010xta.1_Silent_p.L180L NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 186 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCAGGGCCTCATCCTGCACG 0.652 NA 24 92 0 0 0 0 POU2F2 5452 broad.mit.edu 37 19 42597981 42597981 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:42597981C>G uc002osp.2 - 12 1265 c.1198G>C c.(1198-1200)GTT>CTT p.V400L POU2F2_uc002osn.2_Missense_Mutation_p.V384L|POU2F2_uc002oso.2_Missense_Mutation_p.V173L|POU2F2_uc002osq.2_Missense_Mutation_p.A384P|POU2F2_uc002osr.1_Missense_Mutation_p.V400L NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 400 Leucine-zipper. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) CCTCCCTGACCTGTTGTGCTC 0.607 NA 15 250 0 0 0 0 CIC 23152 broad.mit.edu 37 19 42795409 42795409 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:42795409C>A uc002otf.1 + 10 2529 c.2489C>A c.(2488-2490)CCC>CAC p.P830H NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 830 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) TACATCCTGCCCACGCTGCCC 0.687 NA T DUX4 soft tissue sarcoma 14 18 0.00244969 0.00324258 1 0 TMEM145 284339 broad.mit.edu 37 19 42827922 42827922 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:42827922T>C uc002otk.1 + 14 1434 c.1382T>C c.(1381-1383)ATC>ACC p.I461T MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 461 integral to membrane 0 Prostate(69;0.00682) CTCTTCTCCATCCCCCCGCCC 0.582 NA 4 104 0 0 0 0 ZNF404 342908 broad.mit.edu 37 19 44376785 44376785 + Silent SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:44376785T>C uc002oxs.3 - 2 1581 c.1572A>G c.(1570-1572)GAA>GAG p.E524E NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 527 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CCTTACCACATTCTTTGCATT 0.388 NA 19 15 0 0 0 0 KLK13 26085 broad.mit.edu 37 19 51563831 51563831 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:51563831C>A uc002pvn.2 - 2 141 c.98G>T c.(97-99)AGT>ATT p.S33I KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.S33I|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.S33I NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 33 proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GAGAAACCCACTGGTCCCATT 0.582 NA 69 85 1.34e-20 2.11e-20 1 0 ZNF615 284370 broad.mit.edu 37 19 52497539 52497539 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:52497539C>T uc002pye.1 - 6 1082 c.790G>A c.(790-792)GAA>AAA p.E264K ZNF615_uc002pyf.1_Missense_Mutation_p.E275K|ZNF615_uc002pyg.1_Missense_Mutation_p.E156K|ZNF615_uc002pyh.1_Missense_Mutation_p.E275K|ZNF615_uc010epi.1_Missense_Mutation_p.E271K|ZNF615_uc010ydg.1_Missense_Mutation_p.E269K NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 264 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TTGTCACATTCAGTGCATTCA 0.403 NA 16 154 0 0 0 0 ZNF836 162962 broad.mit.edu 37 19 52659425 52659426 + Missense_Mutation DNP CC CC AA TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:52659425_52659426CC>AA uc010ydi.1 - 5 1884_1885 c.1510_1511GG>TT c.(1510-1512)GGT>TTT p.G504F ZNF836_uc010ydj.1_Missense_Mutation_p.G504F NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 504 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGGCTTTACCACATTTATCA 0.406 NA 67 64 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54318203 54318203 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:54318203G>C uc002qch.3 - 2 549 c.329C>G c.(328-330)TCA>TGA p.S110* NLRP12_uc002qci.3_Nonsense_Mutation_p.S110*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.S110*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.S110* NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 110 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAGGCATGTTGACTGGTTCCC 0.517 NA 15 127 0 0 0 0 LILRA1 11024 broad.mit.edu 37 19 55106848 55106848 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr19:55106848C>A uc002qgh.1 + 5 824 c.642C>A c.(640-642)CTC>CTA p.L214L LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.L214L NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 214 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CCAGTGATCTCCTGGAGCTCC 0.587 NA 13 205 6.32e-08 8.97e-08 1 0 NTSR2 23620 broad.mit.edu 37 2 11809734 11809734 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:11809734C>A uc002rbq.3 - 1 596 c.522G>T c.(520-522)ATG>ATT p.M174I NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 174 Helical; Name=4; (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GCTTCTGCCCCATGATGACGG 0.721 NA 19 14 2.94e-08 4.2e-08 1 0 ITSN2 50618 broad.mit.edu 37 2 24507701 24507701 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:24507701C>G uc002rfe.2 - 17 2133 c.1875G>C c.(1873-1875)ATG>ATC p.M625I ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Missense_Mutation_p.M625I NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 625 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAGTCATCCATATTCCCAC 0.284 NA 34 50 0 0 0 0 UGP2 7360 broad.mit.edu 37 2 64085024 64085024 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:64085024G>T uc002scm.2 + 3 515 c.209G>T c.(208-210)GGG>GTG p.G70V UGP2_uc002scl.2_Missense_Mutation_p.G59V|UGP2_uc010ypx.1_Missense_Mutation_p.G79V NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 70 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 CAAGAAAAGGGGCCTTCTGTG 0.403 NA 118 271 3.21e-66 5.47e-66 1 0 ANKRD53 79998 broad.mit.edu 37 2 71206951 71206951 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:71206951G>T uc002shl.3 + 3 779 c.578G>T c.(577-579)TGC>TTC p.C193F ANKRD53_uc002shk.3_Missense_Mutation_p.C193F|ANKRD53_uc002shm.3_Missense_Mutation_p.C159F NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 isoform a 193 ANK 2. 0 GCCCTCCCCTGCATCTACTAC 0.602 NA 36 76 4.39e-29 7.17e-29 1 0 REG1A 5967 broad.mit.edu 37 2 79349251 79349251 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:79349251G>T uc002snz.2 + 4 424 c.321G>T c.(319-321)AAG>AAT p.K107N REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.K107N NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 107 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 ACCCCAAAAAGGTAGGCTGCA 0.488 NA 41 80 1.97e-18 3.04e-18 1 0 REG3A 5068 broad.mit.edu 37 2 79386513 79386513 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:79386513G>T uc002sod.1 - 1 274 c.19C>A c.(19-21)CTG>ATG p.L7M REG3A_uc002soe.1_Missense_Mutation_p.L7M|REG3A_uc002sof.1_Missense_Mutation_p.L7M NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 7 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ACACTGGGCAGGGCCATGGGA 0.532 NA 24 83 1.38e-23 2.23e-23 1 0 CTNNA2 1496 broad.mit.edu 37 2 80874994 80874994 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:80874994C>A uc010ysh.1 + 18 2864 c.2859C>A c.(2857-2859)TTC>TTA p.F953L CTNNA2_uc010yse.1_Missense_Mutation_p.F905L|CTNNA2_uc010ysf.1_Missense_Mutation_p.F905L|CTNNA2_uc010ysg.1_Missense_Mutation_p.F860L|CTNNA2_uc010ysi.1_Missense_Mutation_p.F537L|CTNNA2_uc010ysj.1_Missense_Mutation_p.F234L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 953 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGGATTCCTTCTAGGACGATA 0.343 NA 74 147 9.88e-16 1.51e-15 1 0 FABP1 2168 broad.mit.edu 37 2 88424028 88424028 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:88424028G>A uc002sst.1 - 3 360 c.318C>T c.(316-318)GGC>GGT p.G106G FABP1_uc002ssu.2_Silent_p.G106G NM_001443 NP_001434 P07148 FABPL_HUMAN fatty acid binding protein 1, liver 106 organ morphogenesis 0 TGATTATGTCGCCGTTGAGTT 0.522 NA 40 75 0 0 0 0 MITD1 129531 broad.mit.edu 37 2 99787024 99787024 + Missense_Mutation SNP G G A rs144672860 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:99787024G>A uc002szs.1 - 5 617 c.569C>T c.(568-570)TCT>TTT p.S190F MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron NM_138798 NP_620153 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, 190 protein transport late endosome membrane large_intestine(1)|ovary(1) 2 ATGTATTGAAGAAGAGTATTG 0.313 NA 105 264 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116257182 116257182 + Splice_Site SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:116257182T>A uc002tla.1 + 4 823 c.366_splice c.e4+2 p.F122_splice DPP10_uc002tlb.1_Splice_Site_p.F72_splice|DPP10_uc002tlc.1_Splice_Site_p.F118_splice|DPP10_uc002tle.2_Splice_Site_p.F126_splice|DPP10_uc002tlf.1_Splice_Site_p.F115_splice NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ACAACTTTTGTAAGTAATGAA 0.313 NA 21 37 0 0 0 0 IMP4 92856 broad.mit.edu 37 2 131100699 131100699 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:131100699G>T uc002tra.1 + 2 61 c.44G>T c.(43-45)CGC>CTC p.R15L CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 15 Arg-rich. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) TACCTGTACCGCAAGGCCCGG 0.736 NA 6 12 0.000157383 0.0002127 1 0 FAM123C 205147 broad.mit.edu 37 2 131521734 131521734 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:131521734C>T uc002trw.2 + 2 2279 c.2089C>T c.(2089-2091)CCA>TCA p.P697S FAM123C_uc010fmv.2_Missense_Mutation_p.P697S|FAM123C_uc010fms.1_Missense_Mutation_p.P697S|FAM123C_uc010fmt.1_Missense_Mutation_p.P697S|FAM123C_uc010fmu.1_Missense_Mutation_p.P697S NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 697 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CGCATGGCCTCCAAGGCAAGA 0.642 NA 18 32 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141032165 141032165 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:141032165C>A uc002tvj.1 - 85 13942 c.12970G>T c.(12970-12972)GTG>TTG p.V4324L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4324 Extracellular (Potential).|EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGTGGCACACGTCTAGGAAA 0.353 NA TSP Lung(27;0.18) 21 36 0.000132079 0.000179015 1 0 ARHGAP15 55843 broad.mit.edu 37 2 143986215 143986215 + Missense_Mutation SNP A A G rs150643555 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:143986215A>G uc002tvm.3 + 5 513 c.362A>G c.(361-363)AAG>AGG p.K121R ARHGAP15_uc010zbl.1_Missense_Mutation_p.K121R NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 121 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) AAAGAATCCAAGCAACAGGCT 0.299 NA 37 62 0 0 0 0 PRPF40A 55660 broad.mit.edu 37 2 153573823 153573823 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:153573823C>T uc002tyi.2 - 1 99 c.86G>A c.(85-87)GGG>GAG p.G29E ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Missense_Mutation_p.G29E NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 29 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TCTCCGCTCCCCGTCCCCAGG 0.657 NA 10 32 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166847776 166847776 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:166847776A>T uc010zcz.1 - 26 5994 c.5976T>A c.(5974-5976)GAT>GAA p.D1992E NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 2003 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) TGGCTTTTTCATCTTTGCCTT 0.378 NA 28 43 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167056097 167056097 + Silent SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:167056097A>G uc010fpl.2 - 27 5360 c.5019T>C c.(5017-5019)TTT>TTC p.F1673F uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1684 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TACTGTTGCCAAAGGTCTCAA 0.423 NA 97 277 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168103763 168103763 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:168103763C>A uc002udx.2 + 8 5879 c.5861C>A c.(5860-5862)GCA>GAA p.A1954E XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A1779E|XIRP2_uc010fpq.2_Missense_Mutation_p.A1732E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1779 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCTGTGATGGCAGGATCCTCG 0.423 NA 19 66 0.000132079 0.000179015 1 0 XIRP2 129446 broad.mit.edu 37 2 168107805 168107805 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:168107805G>A uc002udx.2 + 8 9921 c.9903G>A c.(9901-9903)GTG>GTA p.V3301V XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.V3126V|XIRP2_uc010fpq.2_Silent_p.V3079V|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3126 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGTTGCAGTGCCTCCTCGCC 0.438 NA 54 144 0 0 0 0 MYO3B 140469 broad.mit.edu 37 2 171260886 171260886 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:171260886C>A uc002ufy.2 + 20 2550 c.2407C>A c.(2407-2409)CAA>AAA p.Q803K MYO3B_uc002ufv.2_Missense_Mutation_p.Q790K|MYO3B_uc010fqb.1_Missense_Mutation_p.Q790K|MYO3B_uc002ufz.2_Missense_Mutation_p.Q803K|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 803 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TCGGTTTCCCCAAGCAACTGA 0.468 NA 36 72 1.36e-19 2.14e-19 1 0 TTN 7273 broad.mit.edu 37 2 179452324 179452324 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:179452324G>A uc010zfg.1 - 255 56232 c.56008C>T c.(56008-56010)CGT>TGT p.R18670C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12365C|TTN_uc010zfi.1_Missense_Mutation_p.R12298C|TTN_uc010zfj.1_Missense_Mutation_p.R12173C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19597 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGTCATCACGGGTAGAATTG 0.413 NA 17 63 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179469614 179469614 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:179469614G>C uc010zfg.1 - 230 46722 c.46498C>G c.(46498-46500)CCA>GCA p.P15500A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P9195A|TTN_uc010zfi.1_Missense_Mutation_p.P9128A|TTN_uc010zfj.1_Missense_Mutation_p.P9003A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16427 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTGGTGGGGATGGGCGG 0.423 NA 56 133 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180308165 180308165 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:180308165T>C uc002unn.3 - 10 1832 c.1228A>G c.(1228-1230)AAG>GAG p.K410E ZNF385B_uc002unj.2_Missense_Mutation_p.K308E|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Missense_Mutation_p.K307E|ZNF385B_uc002unm.2_Missense_Mutation_p.K334E NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 410 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GCCAAAGGCTTCATCATATCT 0.562 NA 8 28 0 0 0 0 ZNF385B 151126 broad.mit.edu 37 2 180383318 180383318 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:180383318G>T uc002unn.3 - 5 1048 c.444C>A c.(442-444)TCC>TCA p.S148S ZNF385B_uc002unj.2_Silent_p.S46S|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.S45S|ZNF385B_uc002unm.2_Silent_p.S72S NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 148 nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TTGGGGGAATGGATACTCCAA 0.343 NA 72 126 4.39e-58 7.46e-58 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801142 185801142 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:185801142T>C uc002uph.2 + 4 1613 c.1019T>C c.(1018-1020)GTT>GCT p.V340A NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 340 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTAGAGAGTGTTGTTATTAAT 0.333 NA 36 80 0 0 0 0 NAB1 4664 broad.mit.edu 37 2 191555023 191555023 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:191555023G>C uc002usb.2 + 10 2000 c.1428G>C c.(1426-1428)AAG>AAC p.K476N NAB1_uc010fsc.2_Missense_Mutation_p.K476N|NAB1_uc010fsd.2_Missense_Mutation_p.K475N|NAB1_uc002usc.2_Missense_Mutation_p.K475N|NAB1_uc010zgh.1_Missense_Mutation_p.K446N NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 476 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CCTTAGAAAAGAAAGTCATCA 0.353 NA 4 428 0 0 0 0 ANKRD44 91526 broad.mit.edu 37 2 197863757 197863757 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:197863757C>A uc002uua.1 - 24 2541 c.2464G>T c.(2464-2466)GCA>TCA p.A822S ANKRD44_uc002utz.3_Missense_Mutation_p.A554S NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 847 ANK 25. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCAGCAAATGCTGCCGCATGA 0.438 NA 18 87 5.35e-07 7.51e-07 1 0 ALS2 57679 broad.mit.edu 37 2 202575803 202575803 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:202575803G>C uc002uyo.2 - 26 4389 c.4033C>G c.(4033-4035)CAG>GAG p.Q1345E ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 1345 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TCTAGTGTCTGAGTCTGTGAA 0.363 NA 27 102 0 0 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209180091 209180091 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:209180091C>T uc002vcz.2 + 15 2159 c.2001C>T c.(1999-2001)ATC>ATT p.I667I PIKFYVE_uc010fun.1_Silent_p.I348I|PIKFYVE_uc002vcy.1_Silent_p.I611I NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 667 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TTGTCCACATCAAAAAAGTGA 0.418 NA 13 29 0 0 0 0 C2orf67 151050 broad.mit.edu 37 2 211018891 211018891 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:211018891G>C uc002vds.2 - 2 624 c.416C>G c.(415-417)TCA>TGA p.S139* C2orf67_uc002vdt.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdw.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdy.1_Nonsense_Mutation_p.S139*|C2orf67_uc002vdv.2_Nonsense_Mutation_p.S139*|C2orf67_uc002vdx.1_Nonsense_Mutation_p.S139* NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 139 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) CGTGGTATCTGATAGAGGCTC 0.343 NA 5 73 0 0 0 0 MYL1 4632 broad.mit.edu 37 2 211163191 211163191 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:211163191G>C uc002vec.2 - 3 386 c.257C>G c.(256-258)CCC>CGC p.P86R MYL1_uc002veb.2_Missense_Mutation_p.P42R NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 86 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) TGCATTGGTGGGATTTGTGCC 0.473 NA 57 72 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212589868 212589868 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:212589868T>A uc002veg.1 - 6 772 c.674A>T c.(673-675)TAC>TTC p.Y225F ERBB4_uc002veh.1_Missense_Mutation_p.Y225F|ERBB4_uc010zji.1_Missense_Mutation_p.Y225F|ERBB4_uc010zjj.1_Missense_Mutation_p.Y225F|ERBB4_uc010fut.1_Missense_Mutation_p.Y225F NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 225 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTCACTGACGTAAGGTCCGTA 0.493 NA TSP Lung(8;0.080) 41 47 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216269263 216269263 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:216269263G>A uc002vfa.2 - 20 3368 c.3102C>T c.(3100-3102)ACC>ACT p.T1034T FN1_uc002vfb.2_Silent_p.T1034T|FN1_uc002vfc.2_Silent_p.T1034T|FN1_uc002vfd.2_Silent_p.T1034T|FN1_uc002vfe.2_Silent_p.T1034T|FN1_uc002vff.2_Silent_p.T1034T|FN1_uc002vfg.2_Silent_p.T1034T|FN1_uc002vfh.2_Silent_p.T1034T|FN1_uc002vfi.2_Silent_p.T1034T|FN1_uc002vfj.2_Silent_p.T1034T NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1034 |Fibronectin type-III 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCCTCTTCGGGTAAGGCCCA 0.547 NA 45 50 0 0 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241514540 241514540 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:241514540G>A uc002vzi.2 + 7 1282 c.689G>A c.(688-690)CGC>CAC p.R230H RNPEPL1_uc010fzf.2_Missense_Mutation_p.R136H|RNPEPL1_uc002vzj.2_5'Flank NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 230 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) GACCCACAGCGCTTTGATGAC 0.632 NA 81 75 0 0 0 0 HDLBP 3069 broad.mit.edu 37 2 242187504 242187504 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr2:242187504G>T uc002waz.2 - 14 1873 c.1645C>A c.(1645-1647)CAA>AAA p.Q549K HDLBP_uc002wba.2_Missense_Mutation_p.Q549K|HDLBP_uc002wbb.2_Missense_Mutation_p.Q501K NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 549 KH 6. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TCACTTTTTTGTGCTGGGTCT 0.408 NA 43 37 1.85e-21 2.94e-21 1 0 C20orf194 25943 broad.mit.edu 37 20 3324338 3324338 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:3324338T>A uc002wii.2 - 9 881 c.830A>T c.(829-831)CAT>CTT p.H277L C20orf194_uc002wij.3_5'Flank|C20orf194_uc002wik.2_Intron|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 277 0 TTCAGTTATATGGCTAGAGAT 0.388 NA 292 252 0 0 0 0 SLC23A2 9962 broad.mit.edu 37 20 4865411 4865411 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:4865411G>A uc002wlg.1 - 8 1005 c.630C>T c.(628-630)CCC>CCT p.P210P SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.P210P|SLC23A2_uc002wli.2_Silent_p.P209P NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 210 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 CTCGGATCCGGGGATACCAGA 0.418 NA 54 180 0 0 0 0 INSM1 3642 broad.mit.edu 37 20 20350277 20350277 + Nonsense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:20350277C>T uc002wrx.2 + 1 1513 c.1366C>T c.(1366-1368)CAG>TAG p.Q456* NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 456 C2H2-type 4. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) CAAGGGCGCTCAGGAGCGCCA 0.716 NA 14 37 0 0 0 0 C20orf185 359710 broad.mit.edu 37 20 31652345 31652345 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:31652345G>T uc002wym.1 + 7 735 c.735G>T c.(733-735)CTG>CTT p.L245L NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 245 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 ACATAGAACTGGACATCAACG 0.587 NA 28 67 7.26e-15 1.1e-14 1 0 SAMHD1 25939 broad.mit.edu 37 20 35559189 35559189 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:35559189T>C uc002xgh.1 - 5 729 c.599A>G c.(598-600)CAG>CGG p.Q200R NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 200 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) TCCAGCAATCTGAACACAGAG 0.413 NA 64 141 0 0 0 0 RTEL1 51750 broad.mit.edu 37 20 62321524 62321524 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:62321524C>T uc002yfu.1 + 25 2569 c.2226C>T c.(2224-2226)ATC>ATT p.I742I RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.I742I|RTEL1_uc011abd.1_Silent_p.I766I|RTEL1_uc011abe.1_Silent_p.I519I|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 742 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCCATGTCATCCGAGACGTGG 0.617 NA 9 99 0 0 0 0 ZNF512B 57473 broad.mit.edu 37 20 62591451 62591451 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr20:62591451C>G uc002yhl.1 - 17 2523 c.2469G>C c.(2467-2469)AGG>AGC p.R823S NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 823 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) AGTCCTGGCTCCTGTGTTTGG 0.572 NA 6 122 0 0 0 0 MRAP 56246 broad.mit.edu 37 21 33671361 33671361 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr21:33671361G>C uc002ypj.2 + 3 266 c.79G>C c.(79-81)GAC>CAC p.D27H MRAP_uc002ypk.2_Missense_Mutation_p.D27H|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.D27H NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 27 Cytoplasmic (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 CATTCCCGTGGACGAGAAGAA 0.582 NA 8 91 0 0 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003713 34003713 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr21:34003713G>A uc002yqh.2 - 32 4431 c.4431C>T c.(4429-4431)ATC>ATT p.I1477I SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.I1391I|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.I63I NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1438 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GGAAAGGACTGATAGTAACGG 0.468 NA 19 67 0 0 0 0 DSCAM 1826 broad.mit.edu 37 21 42080487 42080487 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr21:42080487G>A uc002yyq.1 - 2 706 c.254C>T c.(253-255)CCC>CTC p.P85L DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 85 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGGAGGGAAGGGGAAAATTTG 0.498 NA 5 110 0 0 0 0 XBP1 7494 broad.mit.edu 37 22 29191483 29191483 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:29191483C>G uc011akl.1 - 6 859 c.811G>C c.(811-813)GAG>CAG p.E271Q XBP1_uc003aec.2_Missense_Mutation_p.E92Q|XBP1_uc003aed.2_3'UTR|XBP1_uc003aef.2_Missense_Mutation_p.E92Q NM_001079539 NP_001073007 P17861 XBP1_HUMAN X-box binding protein 1 isoform XBP1(S) Error:Variant_position_missing_in_P17861_after_alignment immune response nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CTCTCTGTCTCAGAGGGTATC 0.463 NA 4 39 0 0 0 0 THOC5 8563 broad.mit.edu 37 22 29940543 29940543 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:29940543C>T uc003afr.2 - 4 481 c.146G>A c.(145-147)GGC>GAC p.G49D THOC5_uc003afs.2_Missense_Mutation_p.G49D|THOC5_uc003aft.2_Missense_Mutation_p.G49D|THOC5_uc003afu.2_Missense_Mutation_p.G49D|THOC5_uc010gvo.2_5'UTR|THOC5_uc003afv.1_Missense_Mutation_p.G49D|THOC5_uc003afw.1_5'Flank NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 49 Interaction with THOC7.|Interaction with CSF1R (By similarity). intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 ATAGTCTCTGCCAGGGTCCCG 0.527 NA 6 157 0 0 0 0 OSBP2 23762 broad.mit.edu 37 22 31091189 31091189 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:31091189C>T uc003aiy.1 + 1 397 c.293C>T c.(292-294)TCG>TTG p.S98L OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Missense_Mutation_p.S98L|OSBP2_uc011alb.1_Missense_Mutation_p.S98L|OSBP2_uc003aiz.1_Missense_Mutation_p.S98L NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 98 lipid transport membrane lipid binding breast(1)|skin(1) 2 GGGCAGCCATCGGAACTGCTG 0.667 NA 9 76 0 0 0 0 GRAMD4 23151 broad.mit.edu 37 22 47033814 47033814 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:47033814C>T uc003bhx.2 + 2 279 c.240C>T c.(238-240)ATC>ATT p.I80I GRAMD4_uc010had.2_Silent_p.I19I NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 80 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) TGAATGAGATCAAAGGTCACC 0.498 NA 6 225 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718166 50718166 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:50718166T>A uc003bkv.3 - 27 4388 c.4282A>T c.(4282-4284)ATC>TTC p.I1428F PLXNB2_uc003bkt.1_Missense_Mutation_p.I220F|PLXNB2_uc003bku.1_Missense_Mutation_p.I413F NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1428 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGATGTTTGATGGCCTTGAAG 0.622 NA 116 223 0 0 0 0 SAPS2 9701 broad.mit.edu 37 22 50860746 50860746 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr22:50860746C>T uc003blb.1 + 10 1331 c.909C>T c.(907-909)AGC>AGT p.S303S SAPS2_uc003bky.1_Silent_p.S303S|SAPS2_uc003bkz.1_Silent_p.S303S|SAPS2_uc003blc.2_Silent_p.S303S|SAPS2_uc003bla.1_Silent_p.S304S|uc011arw.1_5'Flank NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 303 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) TCAGCAGCAGCGTACTACACG 0.592 NA 11 167 0 0 0 0 ITPR1 3708 broad.mit.edu 37 3 4829703 4829703 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:4829703G>A uc003bqa.2 + 49 6892 c.6544G>A c.(6544-6546)GAG>AAG p.E2182K ITPR1_uc010hca.1_Missense_Mutation_p.E2167K|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E1152K NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 2230 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CCTAACCAAGGAGTCAAAACT 0.388 NA 5 38 0 0 0 0 SYN2 6854 broad.mit.edu 37 3 12208791 12208791 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:12208791G>C uc003bwm.2 + 12 1202 c.1038G>C c.(1036-1038)CAG>CAC p.Q346H SYN2_uc003bwl.1_Missense_Mutation_p.Q346H|SYN2_uc003bwn.2_Missense_Mutation_p.Q20H NM_133625 NP_598328 Q92777 SYN2_HUMAN synapsin II isoform IIa 346 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity ovary(1)|central_nervous_system(1) 2 TGCTGGAGCAGATTGCCATGT 0.517 NA 6 31 0 0 0 0 SLC4A7 9497 broad.mit.edu 37 3 27463267 27463267 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:27463267C>T uc003cdv.2 - 9 1314 c.1243G>A c.(1243-1245)GAT>AAT p.D415N SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.D296N|SLC4A7_uc011aww.1_Missense_Mutation_p.D424N|SLC4A7_uc011awx.1_Missense_Mutation_p.D411N|SLC4A7_uc011awy.1_Missense_Mutation_p.D407N|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.D296N|SLC4A7_uc011axb.1_Missense_Mutation_p.D411N|SLC4A7_uc010hfl.2_Intron|SLC4A7_uc003cdw.2_Missense_Mutation_p.D291N NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 415 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 AAATTCATATCAACCTATTGA 0.353 NA 50 33 0 0 0 0 ANO10 55129 broad.mit.edu 37 3 43596801 43596801 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:43596801G>C uc003cmv.2 - 10 1808 c.1637C>G c.(1636-1638)TCA>TGA p.S546* ANO10_uc011azs.1_Nonsense_Mutation_p.S546*|ANO10_uc003cmw.2_Nonsense_Mutation_p.S480*|ANO10_uc010hil.2_Nonsense_Mutation_p.S356*|ANO10_uc011azt.1_Nonsense_Mutation_p.S435* NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 546 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 TGAAGGTTCTGAGAATGGACG 0.353 NA 8 112 0 0 0 0 LTF 4057 broad.mit.edu 37 3 46482938 46482938 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:46482938C>A uc003cpq.2 - 14 1730 c.1692G>T c.(1690-1692)GTG>GTT p.V564V LTF_uc003fzr.2_Silent_p.V520V|LTF_uc010hjh.2_Silent_p.V562V|LTF_uc003cpr.2_Silent_p.V551V NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 564 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TGACATCTTTCACAAATGCAA 0.403 NA 60 27 2.04e-18 3.16e-18 1 0 NBEAL2 23218 broad.mit.edu 37 3 47049354 47049354 + Nonsense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:47049354C>G uc003cqp.2 + 49 7735 c.7556C>G c.(7555-7557)TCA>TGA p.S2519* NBEAL2_uc010hjm.1_Nonsense_Mutation_p.S1896*|NBEAL2_uc010hjn.1_Nonsense_Mutation_p.S885*|NBEAL2_uc010hjo.1_Nonsense_Mutation_p.S79* NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2519 WD 3. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TACCTCATCTCAGGCTCCCGG 0.632 NA 12 26 0 0 0 0 NBEAL2 23218 broad.mit.edu 37 3 47049787 47049787 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:47049787C>G uc003cqp.2 + 51 7913 c.7734C>G c.(7732-7734)ATC>ATG p.I2578M NBEAL2_uc010hjm.1_Missense_Mutation_p.I1955M|NBEAL2_uc010hjn.1_Missense_Mutation_p.I944M|NBEAL2_uc010hjo.1_Missense_Mutation_p.I138M NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2578 WD 4. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GAACTGTGATCATACACACTG 0.602 NA 9 27 0 0 0 0 ZMYND10 51364 broad.mit.edu 37 3 50380755 50380755 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:50380755C>G uc003dag.1 - 5 639 c.493G>C c.(493-495)GAC>CAC p.D165H RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.D165H|ZMYND10_uc003dah.1_Missense_Mutation_p.D86H|ZMYND10_uc010hlm.1_Missense_Mutation_p.D122H NM_015896 NP_056980 O75800 ZMY10_HUMAN zinc finger, MYND domain-containing 10 165 cytoplasm protein binding|zinc ion binding lung(4)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGGTTGCTGTCCTGGGATCCC 0.617 NA TSP Lung(30;0.18) 21 51 0 0 0 0 LRIG1 26018 broad.mit.edu 37 3 66460596 66460596 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:66460596T>C uc003dmx.2 - 7 906 c.892A>G c.(892-894)ATT>GTT p.I298V LRIG1_uc010hnz.2_Missense_Mutation_p.I38V|LRIG1_uc010hoa.2_Missense_Mutation_p.I298V NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 298 Extracellular (Potential).|LRR 10. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCGGTGAATGCGAGCGATG 0.567 NA 141 137 0 0 0 0 FRMD4B 23150 broad.mit.edu 37 3 69239050 69239050 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:69239050C>T uc003dnv.2 - 18 2058 c.1768G>A c.(1768-1770)GAT>AAT p.D590N FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.D242N|FRMD4B_uc011bga.1_Missense_Mutation_p.D434N NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 590 cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CACTTACGATCATCATAGGTG 0.313 NA 16 27 0 0 0 0 OR5K3 403277 broad.mit.edu 37 3 98109533 98109533 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:98109533G>C uc011bgw.1 + 1 24 c.24G>C c.(22-24)TTG>TTC p.L8F NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCACTCCTTGATAGCTGAGT 0.388 NA 24 73 0 0 0 0 CD200R1 131450 broad.mit.edu 37 3 112647682 112647682 + Silent SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:112647682C>A uc003dzk.1 - 4 914 c.681G>T c.(679-681)CTG>CTT p.L227L CD200R1_uc003dzj.1_Silent_p.L250L|CD200R1_uc011bhx.1_Silent_p.L205L NM_170780 NP_740750 Q8TD46 MO2R1_HUMAN CD200 receptor 1 isoform d 227 Ig-like C2-type.|Extracellular (Potential). interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(2)|pancreas(1) 3 GCTCTATGTACAGACTCTTGT 0.378 NA 20 40 3.62e-10 5.3e-10 1 0 TIGIT 201633 broad.mit.edu 37 3 114026751 114026751 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:114026751C>T uc003ebg.1 + 4 542 c.508C>T c.(508-510)CTC>TTC p.L170F NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 170 Cytoplasmic (Potential). negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 GAAGAAAGCCCTCAGAATCCA 0.418 NA 21 111 0 0 0 0 CASR 846 broad.mit.edu 37 3 122003103 122003103 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:122003103G>T uc003eev.3 + 7 2674 c.2302G>T c.(2302-2304)GGC>TGC p.G768C CASR_uc003eew.3_Missense_Mutation_p.G778C NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 768 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTGCCACGAGGGCTCCCTCAT 0.587 NA 22 44 1.11e-12 1.65e-12 1 0 KALRN 8997 broad.mit.edu 37 3 124390618 124390618 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:124390618C>T uc003ehg.2 + 48 6939 c.6812C>T c.(6811-6813)GCG>GTG p.A2271V KALRN_uc003ehi.2_Missense_Mutation_p.A612V|KALRN_uc003ehk.2_Missense_Mutation_p.A574V|KALRN_uc011bjz.1_Missense_Mutation_p.A363V NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2270 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TCTGTTCCTGCGGGCTCAGAG 0.567 NA 20 151 0 0 0 0 CLRN1 7401 broad.mit.edu 37 3 150690259 150690259 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:150690259C>T uc003eyk.1 - 1 528 c.237G>A c.(235-237)AGG>AGA p.R79R CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 79 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ACCGAAAGGGCCTTGCTCCCA 0.473 NA 56 164 0 0 0 0 IFT80 57560 broad.mit.edu 37 3 160099294 160099294 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:160099294C>G uc011boy.1 - 3 689 c.256G>C c.(256-258)GAT>CAT p.D86H IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 86 cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AACTTACCATCAGAACTTGTG 0.328 NA 15 106 0 0 0 0 SMC4 10051 broad.mit.edu 37 3 160120573 160120573 + Nonsense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:160120573C>A uc003fdh.2 + 4 541 c.428C>A c.(427-429)TCA>TAA p.S143* IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Nonsense_Mutation_p.S143*|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Nonsense_Mutation_p.S118*|SMC4_uc003fdj.2_Nonsense_Mutation_p.S143*|SMC4_uc010hwd.2_Nonsense_Mutation_p.S143*|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 143 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAAAAACTCTCAGTATTAATA 0.323 NA 8 262 0.000274275 0.000368916 1 0 MYNN 55892 broad.mit.edu 37 3 169492266 169492266 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:169492266C>G uc003fft.2 + 2 612 c.183C>G c.(181-183)GTC>GTG p.V61V MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Silent_p.V61V|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Silent_p.V61V NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 61 BTB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGAACAATGTCTTTCTTGATC 0.388 NA 5 380 0 0 0 0 NAALADL2 254827 broad.mit.edu 37 3 174814867 174814867 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:174814867A>T uc003fit.2 + 2 418 c.331A>T c.(331-333)ACA>TCA p.T111S NAALADL2_uc003fiu.1_Missense_Mutation_p.T104S NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 111 Cytoplasmic (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TACCCATTATACACGATCTGC 0.388 NA 58 233 0 0 0 0 NAALADL2 254827 broad.mit.edu 37 3 174951960 174951960 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:174951960C>T uc003fit.2 + 3 872 c.785C>T c.(784-786)TCA>TTA p.S262L NAALADL2_uc003fiu.1_Missense_Mutation_p.S255L|NAALADL2_uc010hwy.1_Missense_Mutation_p.S84L NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 262 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CTGCTCTATTCATATGCAGCC 0.428 NA 26 146 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921521 178921521 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:178921521A>G uc003fjk.2 + 5 1160 c.1003A>G c.(1003-1005)AGA>GGA p.R335G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 335 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 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) TAGTGCACTCAGAATAAAAAT 0.313 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 40 317 0 0 0 0 MCCC1 56922 broad.mit.edu 37 3 182790247 182790247 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:182790247G>A uc003fle.2 - 5 535 c.398C>T c.(397-399)TCA>TTA p.S133L MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Intron|MCCC1_uc003flg.2_Missense_Mutation_p.S24L|MCCC1_uc011bqp.1_Missense_Mutation_p.S86L|MCCC1_uc011bqq.1_Missense_Mutation_p.S24L NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 133 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CATGTTTTCTGAGAGAAAACC 0.383 NA 14 228 0 0 0 0 PAK2 5062 broad.mit.edu 37 3 196509690 196509690 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:196509690C>T uc003fwy.3 + 2 495 c.173C>T c.(172-174)TCA>TTA p.S58L NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 58 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) TCCATATTCTCAGGCACAGAG 0.413 NA 32 377 0 0 0 0 DLG1 1739 broad.mit.edu 37 3 196846384 196846384 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr3:196846384C>G uc003fxo.3 - 13 1472 c.1282G>C c.(1282-1284)GAT>CAT p.D428H DLG1_uc011bub.1_Missense_Mutation_p.D312H|DLG1_uc011buc.1_Missense_Mutation_p.D312H|DLG1_uc011bud.1_Missense_Mutation_p.D111H|DLG1_uc003fxn.3_Missense_Mutation_p.D428H|DLG1_uc011bue.1_Missense_Mutation_p.D395H|DLG1_uc010ial.2_Missense_Mutation_p.D428H|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Missense_Mutation_p.D395H|DLG1_uc010ian.2_Missense_Mutation_p.D295H NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 428 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ACATGGTTATCAACAGGCTGA 0.388 NA 13 146 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62778453 62778453 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:62778453G>A uc010ihh.2 + 10 2059 c.1886G>A c.(1885-1887)CGC>CAC p.R629H LPHN3_uc003hcq.3_Missense_Mutation_p.R629H|LPHN3_uc003hct.2_Intron|LPHN3_uc003hcs.1_Intron NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AAAAGAGAGCGCTCTTGCAGA 0.363 NA 50 51 0 0 0 0 SLC4A4 8671 broad.mit.edu 37 4 72205125 72205125 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:72205125G>C uc003hfy.2 + 4 409 c.292G>C c.(292-294)GAG>CAG p.E98Q SLC4A4_uc010iic.2_Missense_Mutation_p.E98Q|SLC4A4_uc010iib.2_Missense_Mutation_p.E98Q|SLC4A4_uc003hfz.2_Missense_Mutation_p.E98Q|SLC4A4_uc003hgc.3_Missense_Mutation_p.E54Q|SLC4A4_uc003hga.2_5'UTR|SLC4A4_uc003hgb.3_Missense_Mutation_p.E54Q NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 98 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CATCTTGGGAGAGGAGGATGA 0.552 NA 23 212 0 0 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280591 73280591 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:73280591T>A uc003hgk.1 - 4 639 c.602A>T c.(601-603)TAC>TTC p.Y201F NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 201 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGATCTCTTGTAGACAACATG 0.373 NA 44 48 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79285132 79285132 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:79285132C>G uc003hlb.2 + 22 3086 c.2646C>G c.(2644-2646)CTC>CTG p.L882L FRAS1_uc003hkw.2_Silent_p.L882L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 882 FU 10.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACACCAACCTCGTGCTGTCCC 0.527 NA 4 29 0 0 0 0 DMP1 1758 broad.mit.edu 37 4 88584164 88584164 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:88584164C>T uc003hqv.2 + 6 1338 c.1234C>T c.(1234-1236)CTC>TTC p.L412F DMP1_uc003hqw.2_Missense_Mutation_p.L396F NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 412 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CAGTGAGAGCCTCAACTTCTC 0.572 NA 58 59 0 0 0 0 CENPE 1062 broad.mit.edu 37 4 104068734 104068734 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:104068734T>C uc003hxb.1 - 29 4003 c.3913A>G c.(3913-3915)ATG>GTG p.M1305V CENPE_uc003hxc.1_Missense_Mutation_p.M1280V NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1305 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AGTTCATTCATTGTTTCCTGA 0.388 NA 44 40 0 0 0 0 COL25A1 84570 broad.mit.edu 37 4 109822296 109822296 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:109822296C>T uc003hze.1 - 13 1344 c.813G>A c.(811-813)CAG>CAA p.Q271Q COL25A1_uc003hzg.2_Silent_p.Q271Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Silent_p.Q52Q NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 271 Extracellular (Potential).|Collagen-like 3. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GTATTCCATTCTGTCCTACTG 0.348 NA 15 50 0 0 0 0 KIAA1109 84162 broad.mit.edu 37 4 123155982 123155982 + Silent SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:123155982A>G uc003ieh.2 + 25 3423 c.3378A>G c.(3376-3378)AAA>AAG p.K1126K KIAA1109_uc003iei.1_Silent_p.K879K|KIAA1109_uc010ins.1_Silent_p.K469K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1126 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GTAGAAACAAATGTGGTTGTC 0.393 NA 50 54 0 0 0 0 SPATA5 166378 broad.mit.edu 37 4 123855336 123855336 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:123855336G>T uc003iez.3 + 5 663 c.590G>T c.(589-591)GGG>GTG p.G197V SPATA5_uc003iey.2_Missense_Mutation_p.G196V NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 197 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 CGAGTGAAAGGGGCAGATGGC 0.463 NA 30 42 1.81e-10 2.65e-10 1 0 HSPA4L 22824 broad.mit.edu 37 4 128741604 128741604 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:128741604G>C uc003ifm.2 + 14 1949 c.1696G>C c.(1696-1698)GAC>CAC p.D566H HSPA4L_uc010iny.1_Missense_Mutation_p.D525H|HSPA4L_uc011cgr.1_Missense_Mutation_p.D533H NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 566 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 AGACAAACAAGACCGATTAAA 0.338 NA 14 27 0 0 0 0 HSPA4L 22824 broad.mit.edu 37 4 128743942 128743942 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:128743942G>T uc003ifm.2 + 15 2084 c.1831G>T c.(1831-1833)GAT>TAT p.D611Y HSPA4L_uc011cgr.1_Missense_Mutation_p.D578Y NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 611 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GATCATGCAAGATAAGTTAGA 0.274 NA 16 26 4.75e-09 6.86e-09 1 0 HSPA4L 22824 broad.mit.edu 37 4 128748493 128748493 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:128748493G>C uc003ifm.2 + 17 2333 c.2080G>C c.(2080-2082)GAG>CAG p.E694Q HSPA4L_uc011cgr.1_Missense_Mutation_p.E661Q NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 694 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GAAGTACATGGAGCATGAAGA 0.318 NA 21 53 0 0 0 0 MFSD8 256471 broad.mit.edu 37 4 128865017 128865017 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:128865017G>C uc003ifp.2 - 5 492 c.329C>G c.(328-330)TCC>TGC p.S110C MFSD8_uc011cgu.1_Missense_Mutation_p.S65C|MFSD8_uc011cgv.1_Missense_Mutation_p.S110C|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.S65C NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 110 Helical; (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 AATCAAGATGGAGACAATAAG 0.423 NA 3 75 0 0 0 0 NPY1R 4886 broad.mit.edu 37 4 164247211 164247211 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:164247211C>T uc003iqm.1 - 2 762 c.496G>A c.(496-498)GCT>ACT p.A166T NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 166 Helical; Name=4; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAAGCCACAGCAAGGACCCAA 0.433 NA 30 39 0 0 0 0 GPM6A 2823 broad.mit.edu 37 4 176573001 176573001 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:176573001C>T uc003iuf.2 - 4 1329 c.525G>A c.(523-525)TTG>TTA p.L175L GPM6A_uc011ckj.1_Silent_p.L168L|GPM6A_uc003iug.2_Silent_p.L175L|GPM6A_uc003iuh.2_Silent_p.L164L NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 175 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GACGAAGGTCCAAGCAGAGAT 0.438 NA 10 141 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187521277 187521277 + Nonsense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr4:187521277C>A uc003izf.2 - 22 12066 c.11878G>T c.(11878-11880)GGA>TGA p.G3960* FAT1_uc003ize.2_5'Flank NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3960 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGCCTTGTTCCCTGCTGACGG 0.483 NA HNSCC(5;0.00058) 60 70 6.1e-20 9.6e-20 1 0 SEMA5A 9037 broad.mit.edu 37 5 9066745 9066745 + Missense_Mutation SNP C C A rs140646095 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:9066745C>A uc003jek.2 - 17 2799 c.2087G>T c.(2086-2088)TGC>TTC p.C696F NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 696 TSP type-1 3.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GTTGGTGTTGCAAGACTGGTA 0.537 NA 78 178 4.63e-29 7.55e-29 1 0 CTNND2 1501 broad.mit.edu 37 5 11023077 11023077 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:11023077G>A uc003jfa.1 - 17 2948 c.2803C>T c.(2803-2805)CGA>TGA p.R935* CTNND2_uc010itt.2_Nonsense_Mutation_p.R844*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R598*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R502*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R527* NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 935 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ACTAGGTCTCGCATGGCGTAT 0.512 NA 63 74 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11346514 11346514 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:11346514G>T uc003jfa.1 - 9 1743 c.1598C>A c.(1597-1599)CCG>CAG p.P533Q CTNND2_uc010itt.2_Missense_Mutation_p.P442Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P196Q|CTNND2_uc011cmz.1_Missense_Mutation_p.P100Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P100Q NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 533 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATCAATGGACGGGGACCTGGC 0.493 NA 105 163 3.01e-58 5.12e-58 1 0 MYO10 4651 broad.mit.edu 37 5 16783479 16783479 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:16783479C>A uc003jft.3 - 5 1035 c.567G>T c.(565-567)AAG>AAT p.K189N MYO10_uc003jfu.2_Missense_Mutation_p.K156N NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 189 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CACAGGATGTCTTCTCCTTTA 0.378 NA 9 23 1.77e-08 2.53e-08 1 0 CDH9 1007 broad.mit.edu 37 5 26890642 26890642 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:26890642G>T uc003jgs.1 - 8 1454 c.1285C>A c.(1285-1287)CGT>AGT p.R429S CDH9_uc011cnv.1_Missense_Mutation_p.R22S NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 429 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CCAAAAATACGGTCCATATCA 0.403 NA 33 92 1.41e-09 2.05e-09 1 0 AGXT2 64902 broad.mit.edu 37 5 35039554 35039554 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:35039554C>T uc003jjf.2 - 3 316 c.237G>A c.(235-237)ACG>ACA p.T79T AGXT2_uc011com.1_Silent_p.T79T|AGXT2_uc011con.1_5'UTR NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 79 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GGAAATATGCCGTCACCACAG 0.473 NA 38 102 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41055916 41055916 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:41055916G>T uc003jmj.3 - 10 1451 c.961C>A c.(961-963)CAA>AAA p.Q321K HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 321 HEAT 4. binding ovary(6)|central_nervous_system(2) 8 CTTCTTACTTGTTCATCAAAA 0.403 NA 35 122 9.78e-24 1.58e-23 1 0 FST 10468 broad.mit.edu 37 5 52778754 52778754 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:52778754G>A uc003jpd.2 + 2 157 c.130G>A c.(130-132)GTC>ATC p.V44I FST_uc003jpc.2_Missense_Mutation_p.V44I NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 44 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CCGCTGCCAGGTCCTGTACAA 0.617 NA OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 61 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71501008 71501008 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:71501008G>A uc003kbw.3 + 7 7590 c.7349G>A c.(7348-7350)AGC>AAC p.S2450N NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2450 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTTTTAGCAAGCAGCAGCACA 0.468 NA 10 211 0 0 0 0 AP3B1 8546 broad.mit.edu 37 5 77311320 77311320 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:77311320C>A uc003kfj.2 - 26 3170 c.3045G>T c.(3043-3045)CAG>CAT p.Q1015H NM_003664 NP_003655 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 1015 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity central_nervous_system(1) 1 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GAGTGAAATTCTGTGGTGCAG 0.393 NA Hermansky-Pudlak_syndrome 74 34 2.05e-37 3.42e-37 1 0 ACOT12 134526 broad.mit.edu 37 5 80640770 80640770 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:80640770G>A uc003khl.3 - 8 919 c.864C>T c.(862-864)TAC>TAT p.Y288Y RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 288 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CAGCAGCATTGTAAATGAGAA 0.488 NA 49 118 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90106677 90106677 + Silent SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:90106677T>A uc003kju.2 + 74 15696 c.15600T>A c.(15598-15600)GCT>GCA p.A5200A GPR98_uc003kjt.2_Silent_p.A2906A|GPR98_uc003kjw.2_Silent_p.A861A NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5200 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCACACCTGCTGTGTCTGAAA 0.478 NA 55 116 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 90106682 90106682 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:90106682C>A uc003kju.2 + 74 15701 c.15605C>A c.(15604-15606)TCT>TAT p.S5202Y GPR98_uc003kjt.2_Missense_Mutation_p.S2908Y|GPR98_uc003kjw.2_Missense_Mutation_p.S863Y NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5202 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CCTGCTGTGTCTGAAAAGCCT 0.468 NA 57 111 3.32e-32 5.49e-32 1 0 NUDT12 83594 broad.mit.edu 37 5 102890447 102890447 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:102890447C>T uc003koi.2 - 5 1165 c.1072G>A c.(1072-1074)GAG>AAG p.E358K NUDT12_uc011cvb.1_Missense_Mutation_p.E340K NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 358 Nudix box.|Nudix hydrolase. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) TTACCAGGCTCAATAAATCCA 0.318 NA 23 71 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113831600 113831600 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:113831600C>T uc003kqo.2 + 8 1918 c.1461C>T c.(1459-1461)AAC>AAT p.N487N KCNN2_uc003kqp.2_Silent_p.N139N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 487 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AGACCCAGAACATCATGTATG 0.408 NA 40 125 0 0 0 0 DMXL1 1657 broad.mit.edu 37 5 118576160 118576160 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:118576160G>C uc003ksd.2 + 41 8816 c.8635G>C c.(8635-8637)GTC>CTC p.V2879L DMXL1_uc010jcl.1_Missense_Mutation_p.V2900L|DMXL1_uc010jcm.1_RNA|DMXL1_uc003kse.1_Missense_Mutation_p.V53L NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2879 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAATAGTTTAGTCCATGGTAA 0.289 NA 42 102 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250129 140250129 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:140250129G>C uc003lia.2 + 1 2299 c.1441G>C c.(1441-1443)GCG>CCG p.A481P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.A481P NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 481 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCGGGACGCGGACGCGCA 0.667 NA 8 225 0 0 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347910 140347910 + Missense_Mutation SNP C C T rs148804197 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:140347910C>T uc003lii.2 + 1 1799 c.1559C>T c.(1558-1560)TCC>TTC p.S520F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.S520F NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 520 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGTCACCTCCTATGTCTCC 0.507 NA 6 102 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581330 140581330 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:140581330C>G uc003liy.2 + 1 1983 c.1983C>G c.(1981-1983)CTC>CTG p.L661L PCDHB11_uc011daj.1_Silent_p.L296L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 661 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAAGTGCTCCTGGTGGACG 0.706 NA 9 162 0 0 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719457 140719457 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:140719457C>T uc003ljk.1 + 1 1104 c.919C>T c.(919-921)CTA>TTA p.L307L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.L307L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 307 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATAAAAGATCTAGATTATGA 0.423 NA 12 255 0 0 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140795002 140795002 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:140795002C>T uc003lkl.1 + 1 2260 c.2260C>T c.(2260-2262)CTG>TTG p.L754L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.L754L|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 754 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGGCTTTCCTGCAGACCTA 0.627 NA 83 122 0 0 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439601 145439601 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:145439601C>T uc003lnt.2 + 9 1966 c.1728C>T c.(1726-1728)CTC>CTT p.L576L SH3RF2_uc011dbl.1_Silent_p.L576L|SH3RF2_uc011dbm.1_Silent_p.L61L|SH3RF2_uc003lnu.2_Silent_p.L67L|SH3RF2_uc011dbn.1_Silent_p.L67L|SH3RF2_uc011dbo.1_Silent_p.L33L NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 576 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCTGCCCTCACGGGGGAGC 0.632 NA 38 74 0 0 0 0 GABRA1 2554 broad.mit.edu 37 5 161324208 161324208 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:161324208C>A uc010jiw.2 + 11 1619 c.1151C>A c.(1150-1152)CCG>CAG p.P384Q GABRA1_uc010jix.2_Missense_Mutation_p.P384Q|GABRA1_uc010jiy.2_Missense_Mutation_p.P384Q|GABRA1_uc003lyx.3_Missense_Mutation_p.P384Q|GABRA1_uc010jiz.2_Missense_Mutation_p.P384Q|GABRA1_uc010jja.2_Missense_Mutation_p.P384Q|GABRA1_uc010jjb.2_Missense_Mutation_p.P384Q NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 384 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGGGGCGACCCGGGCTTAGCC 0.458 NA 85 113 2.03e-29 3.32e-29 1 0 ZFP2 80108 broad.mit.edu 37 5 178358636 178358636 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:178358636A>T uc003mjn.1 + 5 831 c.322A>T c.(322-324)AGC>TGC p.S108C ZFP2_uc010jky.2_Missense_Mutation_p.S108C|ZFP2_uc010jkx.1_Missense_Mutation_p.S108C NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 108 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TAATCAGTGCAGCAAAACCTT 0.373 NA 23 33 0 0 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506641 178506641 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr5:178506641A>G uc003mju.2 + 5 1323 c.1208A>G c.(1207-1209)CAG>CGG p.Q403R NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 403 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) ATCGAACATCAGCGAATTCAC 0.408 NA 3 158 0 0 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197326 26197326 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:26197326C>T uc003ngv.2 - 2 550 c.153G>A c.(151-153)GAG>GAA p.E51E HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 51 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) AGCGGCGGATCTCGCGCAGAG 0.632 NA 49 107 0 0 0 0 BTN3A2 11118 broad.mit.edu 37 6 26370714 26370714 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:26370714G>T uc010jqh.1 + 5 857 c.598G>T c.(598-600)GGC>TGC p.G200C BTN3A2_uc003nho.1_Missense_Mutation_p.G198C|BTN3A2_uc003nhp.2_Missense_Mutation_p.G200C|BTN3A2_uc011dkd.1_Missense_Mutation_p.G158C|BTN3A2_uc011dke.1_Missense_Mutation_p.G177C|BTN3A2_uc010jqi.1_Missense_Mutation_p.G198C NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor 200 Extracellular (Potential). integral to membrane 0 AGATGGAGTGGGCCTATATGA 0.567 NA 67 196 2.18e-39 3.65e-39 1 0 SCAND3 114821 broad.mit.edu 37 6 28541503 28541503 + Silent SNP A A C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:28541503A>C uc003nlo.2 - 4 2781 c.2163T>G c.(2161-2163)CCT>CCG p.P721P NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 721 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 tcccttcttcaggataacttc 0 NA 4 34 0 0 0 0 RNF39 80352 broad.mit.edu 37 6 30043359 30043359 + Missense_Mutation SNP C C G rs141667762 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:30043359C>G uc003npe.2 - 1 270 c.208G>C c.(208-210)GAT>CAT p.D70H RNF39_uc003npd.2_Missense_Mutation_p.D70H NM_025236 NP_079512 Q9H2S5 RNF39_HUMAN ring finger protein 39 isoform 1 70 cytoplasm zinc ion binding 0 TCGGGCGCATCCATGGAAAGC 0.701 NA 19 33 0 0 0 0 AGER 177 broad.mit.edu 37 6 32148952 32148952 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:32148952C>T uc003oal.1 - 11 1207 c.1183G>A c.(1183-1185)GAG>AAG p.E395K AGER_uc003oak.1_Missense_Mutation_p.E124K|AGER_uc003oar.2_Missense_Mutation_p.E294K|AGER_uc011dpm.1_Missense_Mutation_p.E285K|AGER_uc011dpn.1_3'UTR|AGER_uc010jtv.1_3'UTR|AGER_uc011dpo.1_3'UTR|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Silent_p.*343*|AGER_uc003oap.1_Missense_Mutation_p.E411K|AGER_uc003oat.1_3'UTR|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.E381K|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_3'UTR|AGER_uc003oau.1_3'UTR NM_001136 NP_001127 Q15109 RAGE_HUMAN advanced glycosylation end product-specific 395 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1) 1 TCGCCTGCCTCAGGTTCCTCC 0.557 NA 7 438 0 0 0 0 TAP2 6891 broad.mit.edu 37 6 32797792 32797792 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:32797792G>C uc003occ.2 - 9 1741 c.1710C>G c.(1708-1710)AGC>AGG p.S570R TAP2_uc011dqf.1_Missense_Mutation_p.S570R|TAP2_uc003ocb.1_Missense_Mutation_p.S570R|TAP2_uc003ocd.2_Missense_Mutation_p.S570R NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 570 ABC transporter.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 CATCTTCGCAGCTCTGCAGCC 0.537 NA 61 142 0 0 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283712 33283712 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:33283712G>C uc003oeb.2 - 2 1134 c.982C>G c.(982-984)CTG>GTG p.L328V TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.L328V NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 328 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GTCAACACCAGATCTTCCTCC 0.557 NA 16 166 0 0 0 0 DAXX 1616 broad.mit.edu 37 6 33287564 33287564 + Silent SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:33287564G>C uc003oec.2 - 6 1737 c.1533C>G c.(1531-1533)GGC>GGG p.G511G ZBTB22_uc003oeb.2_5'Flank|ZBTB22_uc010juu.2_5'Flank|DAXX_uc011drd.1_Silent_p.G436G|DAXX_uc011dre.1_Silent_p.G523G|DAXX_uc003oed.2_Silent_p.G511G NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 511 Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 TGATCTGTTTGCCAGGTTCCA 0.502 NA Mis|F|N Pancreatic neuroendocrine tumors 9 118 0 0 0 0 PPARD 5467 broad.mit.edu 37 6 35378951 35378951 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:35378951C>G uc003okm.2 + 3 396 c.87C>G c.(85-87)CTC>CTG p.L29L PPARD_uc003okl.2_Silent_p.L29L|PPARD_uc003okn.2_Silent_p.L29L|PPARD_uc011dtb.1_Intron|PPARD_uc011dtc.1_Silent_p.L29L|PPARD_uc010jvv.1_RNA NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 29 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CCCCAGAGCTCAATGGGGGAC 0.627 NA 16 68 0 0 0 0 MAPK13 5603 broad.mit.edu 37 6 36106682 36106682 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:36106682G>A uc003ols.2 + 11 966 c.868G>A c.(868-870)GAG>AAG p.E290K MAPK13_uc003olt.2_RNA NM_002754 NP_002745 O15264 MK13_HUMAN mitogen-activated protein kinase 13 290 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1) 3 GAAGATGCTGGAGCTAGACGT 0.672 NA 22 81 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38759381 38759381 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:38759381C>T uc003ooe.1 + 19 2781 c.2181C>T c.(2179-2181)GCC>GCT p.A727A NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGGAGATAGCCAAAACTGTGT 0.353 NA 20 37 0 0 0 0 TREM1 54210 broad.mit.edu 37 6 41250265 41250265 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:41250265C>G uc003oqf.1 - 2 338 c.274G>C c.(274-276)GAT>CAT p.D92H TREM1_uc003oqg.1_Missense_Mutation_p.D92H NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 92 Extracellular (Potential).|Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) AAACCATGATCATGGTAGTCT 0.512 NA 24 94 0 0 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224086 44224086 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:44224086C>T uc003oxd.2 - 3 489 c.353G>A c.(352-354)GGG>GAG p.G118E SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 118 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACCTGGAGCCCTGTGGCACA 0.622 NA 86 199 0 0 0 0 GPR116 221395 broad.mit.edu 37 6 46830642 46830642 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:46830642G>C uc003oyo.3 - 15 2471 c.2182C>G c.(2182-2184)CTG>GTG p.L728V GPR116_uc011dwj.1_Missense_Mutation_p.L283V|GPR116_uc011dwk.1_Missense_Mutation_p.L157V|GPR116_uc003oyp.3_Missense_Mutation_p.L586V|GPR116_uc003oyq.3_Missense_Mutation_p.L728V|GPR116_uc010jzi.1_Missense_Mutation_p.L400V NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 728 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) ATCTGGAGCAGACTGTTTATT 0.502 NA 73 281 0 0 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47200672 47200672 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:47200672G>C uc003oyv.2 - 6 2230 c.1797C>G c.(1795-1797)ATC>ATG p.I599M NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 599 Cytoplasmic (Potential). cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) TGTCATCAAAGATAGGCTGCA 0.498 NA 13 239 0 0 0 0 GCM1 8521 broad.mit.edu 37 6 52993279 52993279 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:52993279G>A uc003pbp.2 - 6 1245 c.1036C>T c.(1036-1038)CCT>TCT p.P346S NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 346 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) TTGGCTGCAGGTGGCTCCAAT 0.473 NA 39 162 0 0 0 0 BAI3 577 broad.mit.edu 37 6 70071204 70071204 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:70071204C>A uc003pev.3 + 29 4487 c.4039C>A c.(4039-4041)CCT>ACT p.P1347T BAI3_uc010kak.2_Missense_Mutation_p.P1347T|BAI3_uc011dxx.1_Missense_Mutation_p.P553T NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1347 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CAAAGTAAACCCTGAATTCAA 0.403 NA 77 122 7.97e-31 1.31e-30 1 0 FAM135A 57579 broad.mit.edu 37 6 71185189 71185189 + Silent SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:71185189T>C uc003pfj.2 + 4 367 c.234T>C c.(232-234)AAT>AAC p.N78N FAM135A_uc003pfi.2_Silent_p.N78N|FAM135A_uc003pfh.2_Silent_p.N35N|FAM135A_uc003pfk.2_Silent_p.N78N|FAM135A_uc003pfl.2_5'UTR NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 78 central_nervous_system(1) 1 TGTACAAAAATGAAGAGGTTG 0.264 NA 5 43 0 0 0 0 ANKRD6 22881 broad.mit.edu 37 6 90331648 90331648 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:90331648G>T uc003pni.3 + 10 1141 c.800G>T c.(799-801)CGC>CTC p.R267L ANKRD6_uc003pne.3_Missense_Mutation_p.R267L|ANKRD6_uc003pnf.3_Intron|ANKRD6_uc011dzy.1_Missense_Mutation_p.R267L|ANKRD6_uc010kcd.2_Missense_Mutation_p.R208L|LYRM2_uc010kce.1_RNA|LYRM2_uc003png.2_RNA|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_RNA|ANKRD6_uc003pnj.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 267 ANK 8. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAGGTCTTGCGCTTCAGTCGT 0.547 NA 22 64 7.45e-12 1.1e-11 1 0 C6orf170 221322 broad.mit.edu 37 6 121482138 121482138 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:121482138C>A uc003pyo.1 - 23 2703 c.2635G>T c.(2635-2637)GGT>TGT p.G879C C6orf170_uc003pyq.1_RNA|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Missense_Mutation_p.G439C NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 879 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) AATGGCCCACCAACAAGATTT 0.383 NA 30 82 5.91e-09 8.48e-09 1 0 MAP3K5 4217 broad.mit.edu 37 6 136990454 136990454 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:136990454G>A uc003qhc.2 - 8 1694 c.1333C>T c.(1333-1335)CAG>TAG p.Q445* MAP3K5_uc011edk.1_Nonsense_Mutation_p.Q290*|MAP3K5_uc010kgw.1_Nonsense_Mutation_p.Q445* NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 445 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GATTCAAACTGGTGTCCAGCT 0.393 NA 52 143 0 0 0 0 STXBP5 134957 broad.mit.edu 37 6 147684646 147684646 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr6:147684646G>A uc003qlz.2 + 24 2882 c.2721G>A c.(2719-2721)CAG>CAA p.Q907Q STXBP5_uc010khz.1_Silent_p.Q871Q|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.Q562Q NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 907 WD 12. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CCTCTTCTCAGGAAATTAGTG 0.418 NA 16 54 0 0 0 0 MICALL2 79778 broad.mit.edu 37 7 1481953 1481953 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:1481953G>T uc003skj.3 - 7 1733 c.1586C>A c.(1585-1587)TCC>TAC p.S529Y MICALL2_uc003ski.3_Missense_Mutation_p.S16Y NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 529 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGCAACGCGGATGCCTGAGA 0.667 NA 20 236 7.45e-12 1.1e-11 1 0 FOXK1 221937 broad.mit.edu 37 7 4722314 4722314 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:4722314C>G uc003snc.1 + 1 385 c.375C>G c.(373-375)ATC>ATG p.I125M FOXK1_uc003sna.1_Intron|FOXK1_uc003snb.1_Missense_Mutation_p.I125M NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 125 FHA. cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) GCGTCACCATCGGCCGCAACT 0.647 NA 5 38 0 0 0 0 FOXK1 221937 broad.mit.edu 37 7 4800781 4800781 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:4800781G>A uc003snc.1 + 8 1793 c.1783G>A c.(1783-1785)GGG>AGG p.G595R FOXK1_uc003sna.1_Missense_Mutation_p.G432R NM_001037165 NP_001032242 P85037 FOXK1_HUMAN forkhead box K1 595 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 upper_aerodigestive_tract(1)|skin(1) 2 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) GATGGCCCCCGGGGTCCCCGG 0.672 NA 42 93 0 0 0 0 TNRC18 84629 broad.mit.edu 37 7 5353145 5353145 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:5353145C>T uc003soi.3 - 27 7726 c.7377G>A c.(7375-7377)GAG>GAA p.E2459E NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2459 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) TGACAAGCAGCTCGGCCTCCT 0.687 NA 21 38 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21640667 21640667 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:21640667T>C uc003svc.2 + 17 3326 c.3295T>C c.(3295-3297)TTT>CTT p.F1099L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1099 Stem (By similarity). 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 AATGAGCAAATTTGAGGACTT 0.333 NA Kartagener_syndrome 22 74 0 0 0 0 C7orf30 115416 broad.mit.edu 37 7 23348989 23348989 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:23348989C>T uc003swd.1 + 4 564 c.532C>T c.(532-534)CAT>TAT p.H178Y C7orf30_uc003swe.2_RNA NM_138446 NP_612455 Q96EH3 CG030_HUMAN hypothetical protein LOC115416 178 mitochondrion 0 GBM - Glioblastoma multiforme(13;0.154) CATGGTGATTCATTTGATGCT 0.398 NA 39 127 0 0 0 0 HERPUD2 64224 broad.mit.edu 37 7 35673933 35673933 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:35673933G>C uc003tet.2 - 7 1853 c.1048C>G c.(1048-1050)CTT>GTT p.L350V HERPUD2_uc003tes.3_Missense_Mutation_p.L350V NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 350 response to unfolded protein integral to membrane ovary(3) 3 ATTTCTTCAAGTTCCAAGTTG 0.408 NA 35 66 0 0 0 0 DBNL 28988 broad.mit.edu 37 7 44091508 44091508 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:44091508C>T uc003tjp.3 + 3 317 c.219C>T c.(217-219)AAC>AAT p.N73N DBNL_uc003tjn.2_Intron|DBNL_uc003tjo.3_Silent_p.N73N|DBNL_uc003tjr.3_Intron|DBNL_uc003tjq.3_Silent_p.N73N|DBNL_uc011kbm.1_Silent_p.N73N|DBNL_uc011kbn.1_Intron|DBNL_uc011kbo.1_Intron|DBNL_uc011kbp.1_Silent_p.N73N|DBNL_uc011kbq.1_Intron|DBNL_uc011kbr.1_Silent_p.N21N|DBNL_uc011kbs.1_5'Flank NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 73 ADF-H. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 AGGACCCCAACTCTGGACTGC 0.527 NA 33 97 0 0 0 0 SUMF2 25870 broad.mit.edu 37 7 56147375 56147375 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:56147375C>T uc003trv.2 + 8 919 c.888C>T c.(886-888)AGC>AGT p.S296S PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_3'UTR|SUMF2_uc011kcx.1_3'UTR|SUMF2_uc003trt.2_3'UTR|SUMF2_uc011kcy.1_3'UTR|SUMF2_uc011kcz.1_3'UTR|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Silent_p.S109S|SUMF2_uc003trx.2_RNA NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e Error:Variant_position_missing_in_Q8NBJ7_after_alignment endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTGCAAACAGCGCAATTCCAA 0.602 NA OREG0018082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 52 0 0 0 0 RABGEF1 27342 broad.mit.edu 37 7 66236935 66236935 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:66236935C>G uc011kee.1 + 2 255 c.91C>G c.(91-93)CTC>GTC p.L31V RABGEF1_uc003tvf.2_Translation_Start_Site|RABGEF1_uc003tvg.2_Translation_Start_Site|RABGEF1_uc010lag.2_Missense_Mutation_p.L17V|RABGEF1_uc003tvh.2_Missense_Mutation_p.L17V|RABGEF1_uc003tvi.2_Translation_Start_Site NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 155 Interaction with ubiquitinated proteins.|A20-type. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 TCAATCGGATCTCCTGTGCAA 0.483 NA 50 231 0 0 0 0 TYW1 55253 broad.mit.edu 37 7 66479523 66479523 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:66479523C>T uc003tvn.2 + 5 694 c.545C>T c.(544-546)TCT>TTT p.S182F TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 182 FMN (By similarity).|Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) CTGGGAAATTCTGCCTATGCT 0.333 NA 63 293 0 0 0 0 ABCB4 5244 broad.mit.edu 37 7 87056098 87056098 + Nonsense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:87056098G>A uc003uiv.1 - 16 2108 c.2032C>T c.(2032-2034)CAG>TAG p.Q678* ABCB4_uc003uiw.1_Nonsense_Mutation_p.Q678*|ABCB4_uc003uix.1_Nonsense_Mutation_p.Q678* NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 678 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AGGCTCTTCTGACACATTTGT 0.353 NA 27 39 0 0 0 0 COL1A2 1278 broad.mit.edu 37 7 94057155 94057155 + Missense_Mutation SNP A A C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:94057155A>C uc003ung.1 + 49 3955 c.3484A>C c.(3484-3486)ACA>CCA p.T1162P COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1162 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCCAGCTCGCACATGCCGTGA 0.488 NA HNSCC(75;0.22) 32 24 0 0 0 0 TRIP6 7205 broad.mit.edu 37 7 100466214 100466214 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:100466214C>T uc003uww.2 + 4 631 c.461C>T c.(460-462)CCA>CTA p.P154L TRIP6_uc010lhk.1_RNA NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 154 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCCACTCCAGCCTCTTAC 0.697 NA 7 65 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100677694 100677694 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:100677694G>T uc003uxp.1 + 3 3050 c.2997G>T c.(2995-2997)GAG>GAT p.E999D MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 999 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14. 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) CCAATTCTGAGGCTAGCACCC 0.522 NA 307 339 9.83e-173 1.68e-172 1 0 CUX1 1523 broad.mit.edu 37 7 101918582 101918582 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:101918582C>G uc003uyt.2 + 17 1534 c.1515C>G c.(1513-1515)ATC>ATG p.I505M CUX1_uc011kkn.1_Missense_Mutation_p.I466M|CUX1_uc003uyw.2_Missense_Mutation_p.I459M|CUX1_uc003uyv.2_Missense_Mutation_p.I489M|CUX1_uc003uyu.2_Missense_Mutation_p.I503M|CUX1_uc003uyz.2_RNA NM_001913 NP_001904 P39880 CUX1_HUMAN cut-like homeobox 1 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TTTCCATCATCTCCAGCCAGA 0.632 NA 12 92 0 0 0 0 CPA4 51200 broad.mit.edu 37 7 129948163 129948163 + Missense_Mutation SNP A A C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:129948163A>C uc003vpr.2 + 8 766 c.719A>C c.(718-720)AAG>ACG p.K240T CPA4_uc011kpd.1_Missense_Mutation_p.K207T|CPA4_uc011kpe.1_Missense_Mutation_p.K136T NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 240 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TTATGGAGGAAGACGCGGTCC 0.537 NA 31 40 0 0 0 0 OR2A25 392138 broad.mit.edu 37 7 143772094 143772094 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:143772094C>A uc011ktx.1 + 1 782 c.782C>A c.(781-783)CCC>CAC p.P261H NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TATGTTGAGCCCCAGTATGAG 0.488 NA 135 168 2.45e-52 4.16e-52 1 0 C7orf33 202865 broad.mit.edu 37 7 148311217 148311217 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:148311217G>T uc003wew.2 + 2 649 c.288G>T c.(286-288)TGG>TGT p.W96C NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 96 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GTGCCCCGTGGCATTTTCTTT 0.517 NA 27 57 8.25e-16 1.26e-15 1 0 GIMAP6 474344 broad.mit.edu 37 7 150325508 150325508 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:150325508T>C uc003whn.2 - 3 602 c.178A>G c.(178-180)ATC>GTC p.I60V GIMAP6_uc003whm.2_Intron NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 60 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGCCGAGGATGCTGTTTCCT 0.547 NA 20 477 0 0 0 0 ABP1 26 broad.mit.edu 37 7 150557669 150557669 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr7:150557669C>A uc003why.1 + 5 6155 c.1937C>A c.(1936-1938)CCG>CAG p.P646Q ABP1_uc003whz.1_Missense_Mutation_p.P646Q|ABP1_uc003wia.1_Missense_Mutation_p.P665Q NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 646 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CCCTGGCACCCGCCCGTGGTC 0.617 NA 81 73 1.35e-34 2.25e-34 1 0 UNC5D 137970 broad.mit.edu 37 8 35608237 35608237 + Silent SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:35608237G>T uc003xjr.1 + 13 2401 c.2073G>T c.(2071-2073)CTG>CTT p.L691L UNC5D_uc003xjs.1_Silent_p.L686L|UNC5D_uc003xju.1_Silent_p.L267L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 691 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGAAGCAACTGAAGGTGGCGG 0.507 NA 31 306 5.46e-16 8.33e-16 1 0 UNC5D 137970 broad.mit.edu 37 8 35624547 35624547 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:35624547A>G uc003xjr.1 + 15 2769 c.2441A>G c.(2440-2442)CAT>CGT p.H814R UNC5D_uc003xjs.1_Missense_Mutation_p.H809R|UNC5D_uc003xju.1_Missense_Mutation_p.H390R NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 814 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTCAAAGGCCATGAACAGATC 0.507 NA 93 121 0 0 0 0 MYST3 7994 broad.mit.edu 37 8 41792081 41792081 + Silent SNP T T C rs7820342 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:41792081T>C uc010lxb.2 - 18 4201 c.3657A>G c.(3655-3657)CTA>CTG p.L1219L MYST3_uc010lxc.2_Silent_p.L1219L|MYST3_uc003xon.3_Silent_p.L1219L NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1219 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) tctcctcGGGTAGGGGCATGT 0.343 NA 58 67 0 0 0 0 YTHDF3 253943 broad.mit.edu 37 8 64099575 64099575 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:64099575C>T uc003xuy.2 + 5 1322 c.1006C>T c.(1006-1008)CCA>TCA p.P336S YTHDF3_uc010lys.2_Missense_Mutation_p.P280S|YTHDF3_uc003xuz.2_Missense_Mutation_p.P280S|YTHDF3_uc003xva.2_Missense_Mutation_p.P280S|YTHDF3_uc011len.1_Missense_Mutation_p.P280S NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 336 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) AGGACCTCAGCCACAGGCCCA 0.567 NA 14 31 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69005862 69005862 + Missense_Mutation SNP A A T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:69005862A>T uc003xxv.1 + 21 2300 c.2273A>T c.(2272-2274)TAT>TTT p.Y758F PREX2_uc003xxu.1_Missense_Mutation_p.Y758F|PREX2_uc011lez.1_Missense_Mutation_p.Y693F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 758 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 CAATGGGTTTATAATAGCATT 0.438 NA 49 101 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95547138 95547138 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:95547138G>A uc003ygo.1 - 5 426 c.413C>T c.(412-414)TCT>TTT p.S138F KIAA1429_uc003ygp.2_Missense_Mutation_p.S138F NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 138 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) tggtggtggAGAGTCTCTGTC 0.353 NA 41 109 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103335611 103335611 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:103335611C>A uc003ykr.1 - 14 1745 c.1712G>T c.(1711-1713)AGC>ATC p.S571I UBR5_uc003yks.1_Missense_Mutation_p.S571I NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 571 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) AAATCTACAGCTGTCATTCAT 0.363 NA 15 44 0.00244969 0.00324258 1 0 KCNV1 27012 broad.mit.edu 37 8 110980568 110980568 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:110980568G>A uc003ynr.3 - 3 1594 c.1252C>T c.(1252-1254)CTT>TTT p.L418F KCNV1_uc010mcw.2_Missense_Mutation_p.L418F NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 418 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GCCAAGACAAGAATTCCCGAT 0.478 NA 51 113 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113668540 113668540 + Silent SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:113668540C>G uc003ynu.2 - 18 3006 c.2847G>C c.(2845-2847)CTG>CTC p.L949L CSMD3_uc003yns.2_Silent_p.L221L|CSMD3_uc003ynt.2_Silent_p.L909L|CSMD3_uc011lhx.1_Silent_p.L845L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 949 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATGAACTTCCAGAACATCAT 0.343 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 69 0 0 0 0 WISP1 8840 broad.mit.edu 37 8 134232922 134232922 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:134232922G>T uc003yub.2 + 3 524 c.448G>T c.(448-450)GCG>TCG p.A150S WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 150 VWFC. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) CATCGACGGCGCGGTGGGCTG 0.667 NA 50 138 1.4e-22 2.24e-22 1 0 GLI4 2738 broad.mit.edu 37 8 144358699 144358699 + Nonsense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:144358699C>T uc003yxx.2 + 4 941 c.856C>T c.(856-858)CAG>TAG p.Q286* ZFP41_uc003yxv.2_RNA NM_138465 NP_612474 P10075 GLI4_HUMAN GLI-Kruppel family member GLI4 286 C2H2-type 4. nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) GGTGCGCCACCAGCGGCTGCA 0.657 NA 21 35 0 0 0 0 RHPN1 114822 broad.mit.edu 37 8 144463846 144463846 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr8:144463846G>A uc003yyb.2 + 13 1726 c.1593G>A c.(1591-1593)TCG>TCA p.S531S NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 556 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GGGGAGACTCGCCTGTCCTCA 0.692 NA 23 39 0 0 0 0 KANK1 23189 broad.mit.edu 37 9 712501 712501 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:712501G>C uc003zgl.1 + 7 2384 c.1735G>C c.(1735-1737)GAC>CAC p.D579H KANK1_uc003zgm.2_Missense_Mutation_p.D579H|KANK1_uc003zgn.1_Missense_Mutation_p.D579H|KANK1_uc003zgo.1_Missense_Mutation_p.D579H|KANK1_uc003zgp.1_Missense_Mutation_p.D579H|KANK1_uc003zgq.2_Missense_Mutation_p.D421H|KANK1_uc003zgr.1_Missense_Mutation_p.D421H|KANK1_uc003zgs.1_Missense_Mutation_p.D421H NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 579 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GGAAATGCATGACCGATGTGC 0.507 NA 30 196 0 0 0 0 DNAI1 27019 broad.mit.edu 37 9 34493300 34493300 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:34493300A>G uc003zum.2 + 9 983 c.790A>G c.(790-792)AGG>GGG p.R264G NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 264 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GATGGCCATGAGGAAGCTGAC 0.478 NA Kartagener_syndrome 39 53 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35706887 35706887 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:35706887G>C uc003zxt.2 - 38 5320 c.4966C>G c.(4966-4968)CCA>GCA p.P1656A NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1656 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGCTGCCCTGGAGCCTTGTCC 0.582 NA 4 116 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609741 84609741 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:84609741G>A uc004amn.2 + 4 4403 c.4356G>A c.(4354-4356)GAG>GAA p.E1452E NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1452 integral to membrane 0 TCAGAGCAGAGCCTGTCCAGG 0.532 NA 33 37 0 0 0 0 OR13C4 138804 broad.mit.edu 37 9 107288743 107288743 + Missense_Mutation SNP T T C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:107288743T>C uc011lvn.1 - 1 748 c.748A>G c.(748-750)ATA>GTA p.I250V NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCATAAAATATGATCACCACA 0.453 NA 80 63 0 0 0 0 ABCA1 19 broad.mit.edu 37 9 107586827 107586827 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:107586827G>A uc004bcl.2 - 18 2888 c.2575C>T c.(2575-2577)CCT>TCT p.P859S NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 859 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGGTGCAAGGAAAATACCAG 0.507 NA 56 38 0 0 0 0 TTC16 158248 broad.mit.edu 37 9 130485521 130485521 + Silent SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:130485521C>T uc004brq.1 + 7 848 c.781C>T c.(781-783)CTG>TTG p.L261L PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Silent_p.L248L|TTC16_uc004brr.1_Silent_p.L206L|TTC16_uc010mxn.1_5'UTR NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 261 TPR 4. binding 0 TGCGGGGATCCTGGCTGTGCA 0.632 NA 41 22 0 0 0 0 NUP188 23511 broad.mit.edu 37 9 131768858 131768858 + Silent SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:131768858G>A uc004bws.1 + 44 5173 c.5151G>A c.(5149-5151)TCG>TCA p.S1717S NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1717 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TCCTCCCCTCGCCGCAGGGCA 0.612 NA OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 79 53 0 0 0 0 DBH 1621 broad.mit.edu 37 9 136522303 136522303 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr9:136522303C>A uc004cel.2 + 11 1683 c.1674C>A c.(1672-1674)TTC>TTA p.F558L uc010nao.1_Silent_p.A26A NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 558 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TGTACAGCTTCGCGCCCATCT 0.632 NA 38 57 2.87e-16 4.39e-16 1 0 TLR7 51284 broad.mit.edu 37 X 12904444 12904444 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:12904444T>G uc004cvc.2 + 3 956 c.817T>G c.(817-819)TGT>GGT p.C273G NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 273 Extracellular (Potential).|LRR 9. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TTGTGCGCCGTGTAAAAATAA 0.388 NA 56 70 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21863309 21863309 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:21863309T>G uc010nfq.2 + 3 442 c.245T>G c.(244-246)TTT>TGT p.F82C MBTPS2_uc004dae.2_Missense_Mutation_p.F82C|MBTPS2_uc004dab.2_Missense_Mutation_p.F82C NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor Error:Variant_position_missing_in_O15391_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GGAATGGTGTTTGGCGTAATT 0.333 NA 59 60 0 0 0 0 CXorf59 286464 broad.mit.edu 37 X 36162677 36162677 + Splice_Site SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:36162677G>C uc004ddk.1 + 11 1447 c.1261_splice c.e11-1 p.V421_splice NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 integral to membrane central_nervous_system(1) 1 tttgtttctaggtgtgtctga 0.01 NA 47 74 0 0 0 0 USP9X 8239 broad.mit.edu 37 X 41069829 41069829 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:41069829G>T uc004dfb.2 + 33 5716 c.5083G>T c.(5083-5085)GAT>TAT p.D1695Y USP9X_uc004dfc.2_Missense_Mutation_p.D1695Y NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1695 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTCATTGGTGGATAGTTTAGA 0.388 NA 43 36 1.23e-20 1.94e-20 1 0 HUWE1 10075 broad.mit.edu 37 X 53634558 53634558 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:53634558G>A uc004dsp.2 - 25 2824 c.2422C>T c.(2422-2424)CTT>TTT p.L808F NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 808 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGATTGGGAAGACCCAAAATG 0.438 NA 10 92 0 0 0 0 TSR2 90121 broad.mit.edu 37 X 54469925 54469925 + Splice_Site SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:54469925G>T uc004dte.2 + 3 266 c.264_splice c.e3+1 p.Q88_splice TSR2_uc004dtf.2_Splice_Site NM_058163 NP_477511 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog rRNA processing protein binding 0 TCTGCCCCAGGTGAGCTTATC 0.512 NA 51 125 7.05e-20 1.11e-19 1 0 FAAH2 158584 broad.mit.edu 37 X 57313310 57313310 + Missense_Mutation SNP G G A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:57313310G>A uc004dvc.2 + 1 201 c.52G>A c.(52-54)GGC>AGC p.G18S NM_174912 NP_777572 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 18 Helical; (Potential). integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity ovary(3) 3 GCGGGCGCTAGGCTTTCTCAT 0.562 NA HNSCC(52;0.14) 8 31 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960704 73960704 + Missense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:73960704C>T uc004eby.2 - 3 4305 c.3688G>A c.(3688-3690)GCT>ACT p.A1230T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1230 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTGATGGCAGCCATGTATTTC 0.473 NA 33 85 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76874427 76874427 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:76874427G>C uc004ecp.3 - 21 5527 c.5295C>G c.(5293-5295)ATC>ATG p.I1765M ATRX_uc004ecq.3_Missense_Mutation_p.I1727M|ATRX_uc004eco.3_Missense_Mutation_p.I1550M NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1765 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AATTTTCCTTGATAAAATTAA 0.313 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 8 41 0 0 0 0 PABPC5 140886 broad.mit.edu 37 X 90690736 90690736 + Missense_Mutation SNP G G T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:90690736G>T uc004efg.2 + 2 600 c.160G>T c.(160-162)GTG>TTG p.V54L PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 54 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CCGTGATCCGGTGACCCGCAG 0.537 NA 14 17 1.36e-13 2.05e-13 1 0 TNMD 64102 broad.mit.edu 37 X 99854535 99854535 + Missense_Mutation SNP C C A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:99854535C>A uc004efy.3 + 7 1001 c.775C>A c.(775-777)CTG>ATG p.L259M TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 259 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TGATCCCATGCTGGATGAGAG 0.478 NA 17 10 3.41e-10 4.99e-10 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139207 101139207 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:101139207C>G uc004eim.2 - 2 4177 c.679G>C c.(679-681)GAT>CAT p.D227H ZMAT1_uc011mrl.1_Missense_Mutation_p.D398H|ZMAT1_uc004ein.2_Missense_Mutation_p.D227H|ZMAT1_uc011mrm.1_Missense_Mutation_p.D227H NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 227 nucleus zinc ion binding ovary(1) 1 TTTATGTAATCTTCAAGTTCA 0.413 NA 14 310 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122318400 122318400 + Missense_Mutation SNP A A G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:122318400A>G uc004etq.3 + 2 306 c.13A>G c.(13-15)AAG>GAG p.K5E GRIA3_uc004etr.3_Missense_Mutation_p.K5E|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_5'Flank|GRIA3_uc010nqs.1_Missense_Mutation_p.K5E NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 5 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GGCCAGGCAGAAGAAAATGGG 0.483 NA 94 97 0 0 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906314 144906314 + Nonsense_Mutation SNP C C T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:144906314C>T uc004fcd.2 + 5 3361 c.2371C>T c.(2371-2373)CGA>TGA p.R791* SLITRK2_uc010nsp.2_Nonsense_Mutation_p.R791*|SLITRK2_uc010nso.2_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.R791*|SLITRK2_uc011mws.1_Nonsense_Mutation_p.R791*|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.R791*|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.R791*|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 791 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CTATGAATCTCGACGCCAAAA 0.453 NA 98 109 0 0 0 0 FLNA 2316 broad.mit.edu 37 X 153594777 153594777 + Missense_Mutation SNP T T A TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chrX:153594777T>A uc004fkk.2 - 8 1376 c.1127A>T c.(1126-1128)AAG>ATG p.K376M FLNA_uc010nuu.1_Missense_Mutation_p.K376M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 376 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACCCTGTGACTTATCCACGTA 0.597 NA 13 73 0 0 0 0 JTB 10899 broad.mit.edu 37 1 153949693 153949710 + In_Frame_Del DEL CTGGGGGAGGCCAGGCCT CTGGGGGAGGCCAGGCCT - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:153949693_153949710delCTGGGGGAGGCCAGGCCT uc001fds.2 - 1 742_759 c.19_36delAGGCCTGGCCTCCCCCAG c.(19-36)AGGCCTGGCCTCCCCCAGdel p.RPGLPQ7del NM_006694 NP_006685 O76095 JTB_HUMAN jumping translocation breakpoint precursor 7_12 apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle protein kinase binding 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGTGGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCC 0.638 NA 18 153 --- --- --- --- NA NA NA NA COPA 1314 broad.mit.edu 37 1 160264643 160264662 + Splice_Site DEL CTTCCCTACAGAGGGAAGGA CTTCCCTACAGAGGGAAGGA - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:160264643_160264662delCTTCCCTACAGAGGGAAGGA uc009wti.2 - 24 2871 c.2477_splice c.e24-1 p.G826_splice COPA_uc001fvv.3_Splice_Site_p.G835_splice NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTCCTCCCTTCCCTACAGAGGGAAGGAACAGAACGGA 0.491 NA 16 100 --- --- --- --- NA NA NA NA USH2A 7399 broad.mit.edu 37 1 216052268 216052268 + Frame_Shift_Del DEL C C - rs148433761 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr1:216052268delC uc001hku.1 - 42 8783 c.8396delG c.(8395-8397)GGTfs p.G2799fs NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2799 Fibronectin type-III 14.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTACCCATTACCCCCTGAGCA 0.443 NA HNSCC(13;0.011) 76 154 --- --- --- --- NA NA NA NA SPTY2D1 144108 broad.mit.edu 37 11 18636297 18636298 + Frame_Shift_Ins INS - - T TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:18636297_18636298insT uc001moy.2 - 3 1739_1740 c.1523_1524insA c.(1522-1524)AATfs p.N508fs SPTY2D1_uc010rdi.1_Frame_Shift_Ins_p.N508fs NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 508 Ser-rich. breast(1) 1 CTGGGACTGAATTACTGACAGT 0.559 NA 33 76 --- --- --- --- NA NA NA NA CPSF7 79869 broad.mit.edu 37 11 61179315 61179320 + In_Frame_Del DEL GATGAG GATGAG - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:61179315_61179320delGATGAG uc001nrq.2 - 8 1308_1313 c.1174_1179delCTCATC c.(1174-1179)CTCATCdel p.LI392del CPSF7_uc001nro.2_In_Frame_Del_p.LI383del|CPSF7_uc001nrp.2_In_Frame_Del_p.LI435del|CPSF7_uc001nrr.2_In_Frame_Del_p.LI383del NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 392_393 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TAAGAGAGGAGATGAGGACACGGCAA 0.524 NA 29 82 --- --- --- --- NA NA NA NA ME3 10873 broad.mit.edu 37 11 86152375 86152378 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr11:86152375_86152378delAAAG uc001pbz.2 - 14 2012_2015 c.1758_1761delCTTT c.(1756-1761)TCCTTTfs p.S586fs ME3_uc001pca.2_Frame_Shift_Del_p.S586fs|ME3_uc009yvk.2_Frame_Shift_Del_p.S586fs NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 586_587 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) TGTCCAGTGTAAAGGAGTCATAGT 0.51 NA 54 157 --- --- --- --- NA NA NA NA NR1H4 9971 broad.mit.edu 37 12 100934551 100934551 + Frame_Shift_Del DEL C C - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr12:100934551delC uc001tht.1 + 7 1091 c.1063delC c.(1063-1065)CCGfs p.P355fs NR1H4_uc001thp.1_Frame_Shift_Del_p.P341fs|NR1H4_uc001thq.1_Frame_Shift_Del_p.P345fs|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Frame_Shift_Del_p.P345fs|NR1H4_uc010svk.1_Frame_Shift_Del_p.P294fs|NR1H4_uc001ths.1_Frame_Shift_Del_p.P351fs NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 355 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TAAGAAACTTCCGTCTGGGCA 0.378 NA 30 81 --- --- --- --- NA NA NA NA SFRS5 6430 broad.mit.edu 37 14 70238141 70238141 + Frame_Shift_Del DEL C C - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:70238141delC uc001xll.2 + 9 2233 c.782delC c.(781-783)TCCfs p.S261fs SFRS5_uc001xlm.2_RNA|SFRS5_uc001xlo.2_Frame_Shift_Del_p.S261fs|SFRS5_uc001xlp.2_Frame_Shift_Del_p.S261fs|SFRS5_uc001xlq.2_Frame_Shift_Del_p.S258fs NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 261 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) AGGTCCCGGTCCCGATCAAGG 0.463 NA 70 348 --- --- --- --- NA NA NA NA ATXN3 4287 broad.mit.edu 37 14 92560173 92560173 + Frame_Shift_Del DEL A A - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr14:92560173delA uc001yac.3 - 4 306 c.237delT c.(235-237)GTTfs p.V79fs ATXN3_uc010aug.2_Frame_Shift_Del_p.V64fs|ATXN3_uc001yad.3_Frame_Shift_Del_p.V24fs|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 79 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CATTGCTTATAACCTGTTAAG 0.353 NA 32 78 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578469 7578469 + Frame_Shift_Del DEL C C - TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr17:7578469delC uc002gim.2 - 5 655 c.461delG c.(460-462)GGCfs p.G154fs TP53_uc002gig.1_Frame_Shift_Del_p.G154fs|TP53_uc002gih.2_Frame_Shift_Del_p.G154fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G22fs|TP53_uc010cng.1_Frame_Shift_Del_p.G22fs|TP53_uc002gii.1_Frame_Shift_Del_p.G22fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G154fs|TP53_uc010cni.1_Frame_Shift_Del_p.G154fs|TP53_uc002gij.2_Frame_Shift_Del_p.G154fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G61fs|TP53_uc002gio.2_Frame_Shift_Del_p.G22fs|TP53_uc010vug.1_Frame_Shift_Del_p.G115fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 154 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> D (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G154V(36)|p.G154G(12)|p.G154S(9)|p.0?(7)|p.G154D(6)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.G154fs*16(2)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.G154C(1)|p.Q144_G154del11(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.D148fs*23(1)|p.P153_G154insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACGCGGGTGCCGGGCGGGGG 0.607 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 95 50 --- --- --- --- NA NA NA NA U2AF1 7307 broad.mit.edu 37 21 44513281 44513282 + In_Frame_Ins INS - - CCG rs144595259 TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 2cf33b63-464e-49a0-88f0-6a6d5b0393c4 72e73761-8b51-47b3-8dae-2c103d1c6c54 g.chr21:44513281_44513282insCCG uc002zda.1 - 8 737_738 c.653_654insCGG c.(652-654)GGT>GGCGGT p.218_218G>GG U2AF1_uc002zcy.1_In_Frame_Ins_p.145_145G>GG|U2AF1_uc002zcz.1_In_Frame_Ins_p.145_145G>GG|U2AF1_uc002zdb.1_In_Frame_Ins_p.218_218G>GG|U2AF1_uc010gpi.1_3'UTR NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 218 Arg/Gly/Ser-rich (RS domain).|Poly-Gly. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 cgccacctccaccaccgccacc 0.406 NA 9 113 --- --- --- --- NA NA NA NA