Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CHD5 26038 broad.mit.edu 37 1 6186638 6186638 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:6186638C>A uc001amb.1 - 26 4172 c.4072G>T c.(4072-4074)GAC>TAC p.D1358Y CHD5_uc001alz.1_Missense_Mutation_p.D215Y|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1358 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCACCCTGGTCCTCCTGGGAG 0.672 NA 29 44 1.22384e-17 1.48857e-17 0.002836 1 0 CLSTN1 22883 broad.mit.edu 37 1 9790694 9790694 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:9790694C>T uc001aqh.2 - 19 3577 c.2818G>A c.(2818-2820)GAA>AAA p.E940K CLSTN1_uc001aqi.2_Missense_Mutation_p.E930K|CLSTN1_uc010oag.1_Missense_Mutation_p.E921K|CLSTN1_uc001aqf.2_Missense_Mutation_p.E204K NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 940 Glu-rich (highly acidic).|Cytoplasmic (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TCCTCTTCTTCGCCGTCCTCG 0.532 NA 16 40 0 0 0.008871 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12252977 12252977 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:12252977G>T uc001att.2 + 6 698 c.609G>T c.(607-609)ACG>ACT p.T203T TNFRSF1B_uc001atu.2_Silent_p.T8T|TNFRSF1B_uc009vnk.2_RNA NM_001066 NP_001057 P20333 TNR1B_HUMAN tumor necrosis factor receptor 2 precursor 203 Extracellular (Potential). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity liver(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCACGTCCACGTCCCCCACCC 0.622 NA 16 44 6.44725e-10 7.25052e-10 0.002299 1 0 SYF2 25949 broad.mit.edu 37 1 25549784 25549784 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:25549784C>G uc001bjt.1 - 7 760 c.705G>C c.(703-705)CAG>CAC p.Q235H SYF2_uc001bju.1_Missense_Mutation_p.Q193H NM_015484 NP_056299 O95926 SYF2_HUMAN SYF2 homolog, RNA splicing factor isoform 1 235 catalytic step 2 spliceosome 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) TTTCCAAATTCTGTTTAATTT 0.338 NA 28 77 0 0 0.008361 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237907 33237907 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:33237907C>G uc001bvv.2 + 6 3086 c.2950C>G c.(2950-2952)CGA>GGA p.R984G KIAA1522_uc001bvu.1_Missense_Mutation_p.R1043G|KIAA1522_uc010ohm.1_Missense_Mutation_p.R995G|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 984 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAGTTACCCTCGAGCTGAGCC 0.662 NA 20 77 0 0 0.00278 0 0 CSMD2 114784 broad.mit.edu 37 1 34190196 34190197 + Missense_Mutation DNP CG CG GA TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:34190196_34190197CG>GA uc001bxn.1 - 18 2713_2714 c.2684_2685CG>TC c.(2683-2685)TCG>TTC p.S895F CSMD2_uc001bxm.1_Missense_Mutation_p.S935F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 895 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGTGTAGCCCGAGTCACAGCT 0.589 NA 24 64 0 0 0.004672 0 0 CSF3R 1441 broad.mit.edu 37 1 36939405 36939405 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:36939405C>G uc001caw.1 - 5 623 c.445G>C c.(445-447)GAG>CAG p.E149Q CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.E149Q|CSF3R_uc001cax.1_Missense_Mutation_p.E149Q|CSF3R_uc001cay.1_Missense_Mutation_p.E149Q NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 149 Fibronectin type-III 1.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) AGGTGGGTCTCAGGTCCTGGC 0.597 NA 20 54 0 0 0.008871 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947399 37947399 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:37947399G>A uc001cbb.3 + 4 931 c.781G>A c.(781-783)GAG>AAG p.E261K ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 261 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCGCTTCATCGAGGAGCGGCT 0.572 NA 14 22 0 0 0.003163 0 0 MACF1 23499 broad.mit.edu 37 1 39888568 39888568 + Missense_Mutation SNP A A C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:39888568A>C uc010oiu.1 + 24 11596 c.11465A>C c.(11464-11466)CAG>CCG p.Q3822P MACF1_uc010ois.1_Missense_Mutation_p.Q3320P|MACF1_uc001cda.1_Missense_Mutation_p.Q3207P|MACF1_uc001cdc.1_Missense_Mutation_p.Q2386P NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5387 Spectrin 7. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCCAAGAACAGAAGGTAAGT 0.448 NA 12 27 0 0 0.001855 0 0 CCDC17 149483 broad.mit.edu 37 1 46085982 46085982 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:46085982G>A uc010olt.1 - 13 1982 c.1834C>T c.(1834-1836)CAC>TAC p.H612Y CCDC17_uc009vxy.2_Missense_Mutation_p.H580Y|CCDC17_uc010ols.1_Missense_Mutation_p.H603Y|CCDC17_uc001com.3_Missense_Mutation_p.H433Y|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Missense_Mutation_p.H100Y NM_001114938 NP_001108410 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 612 ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GAACTGTGGTGAGGGCCCAAA 0.552 NA 7 24 0 0 0.004482 0 0 GLIS1 148979 broad.mit.edu 37 1 54060371 54060371 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:54060371C>A uc001cvr.1 - 3 772 c.205G>T c.(205-207)GGC>TGC p.G69C NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 69 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GGGGGTAGGCCCAAGACGCAG 0.667 NA 7 16 0.00198382 0.00204955 0.001984 1 0 IL23R 149233 broad.mit.edu 37 1 67635043 67635043 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:67635043G>T uc001ddo.2 + 3 174 c.89G>T c.(88-90)TGC>TTC p.C30F IL23R_uc009waz.2_5'UTR|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_5'UTR|IL23R_uc010opl.1_5'UTR|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_5'UTR|IL23R_uc001ddr.2_RNA NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 30 Extracellular (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 AATATAAACTGCTCTGGCCAC 0.313 NA 13 42 1.49906e-05 1.58452e-05 0.00245 1 0 DIRAS3 9077 broad.mit.edu 37 1 68512795 68512795 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:68512795G>A uc001ded.2 - 2 481 c.186C>T c.(184-186)TTC>TTT p.F62F uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 62 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 ACTCATGACGGAAGTTGCCGC 0.582 NA 44 103 0 0 0.00361 0 0 C1orf173 127254 broad.mit.edu 37 1 75037590 75037590 + Silent SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:75037590T>A uc001dgg.2 - 14 4023 c.3804A>T c.(3802-3804)CTA>CTT p.L1268L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1268 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTGGGTCCTTAGCACGACAT 0.572 NA 49 98 0 0 0.00361 0 0 LPHN2 23266 broad.mit.edu 37 1 82450289 82450289 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:82450289G>C uc001dit.3 + 19 3435 c.3254G>C c.(3253-3255)TGC>TCC p.C1085S LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.C1085S|LPHN2_uc001div.2_Missense_Mutation_p.C1085S|LPHN2_uc009wcd.2_Missense_Mutation_p.C1085S|LPHN2_uc001diw.2_Missense_Mutation_p.C669S NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1098 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TATGGCAAGTGCTTCAGACAC 0.453 NA 35 76 0 0 0.005524 0 0 CLCA1 1179 broad.mit.edu 37 1 86959282 86959282 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:86959282G>C uc001dlt.2 + 10 1809 c.1680G>C c.(1678-1680)AAG>AAC p.K560N CLCA1_uc001dls.1_Missense_Mutation_p.K499N NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 560 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCATTGCTAAGGTATGGAGTC 0.388 NA 15 19 0 0 0.004007 0 0 ZNF326 284695 broad.mit.edu 37 1 90478797 90478797 + Splice_Site SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:90478797G>T uc001dnq.2 + 7 1065 c.926_splice c.e7+1 p.R309_splice ZNF326_uc009wda.1_Splice_Site_p.R220_splice|ZNF326_uc001dnr.2_Splice_Site_p.R103_splice NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) ATGGATACAGGTTTGTACTTA 0.348 NA 10 10 0.000442599 0.000460733 0.006214 1 0 SLC44A3 126969 broad.mit.edu 37 1 95290143 95290143 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:95290143C>A uc001dqv.3 + 3 337 c.230C>A c.(229-231)TCC>TAC p.S77Y SLC44A3_uc001dqx.3_Missense_Mutation_p.S77Y|SLC44A3_uc010otq.1_Missense_Mutation_p.S41Y|SLC44A3_uc010otr.1_Missense_Mutation_p.S41Y|SLC44A3_uc001dqw.3_Missense_Mutation_p.S29Y|SLC44A3_uc010ots.1_Missense_Mutation_p.S29Y|SLC44A3_uc009wds.2_5'UTR|SLC44A3_uc010ott.1_Missense_Mutation_p.S29Y|SLC44A3_uc010otu.1_5'Flank NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 77 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) AAGAAGAACTCCCCCGTGGAA 0.507 NA 34 89 3.38236e-24 4.27311e-24 0.006999 1 0 VCAM1 7412 broad.mit.edu 37 1 101186295 101186295 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:101186295G>T uc001dti.2 + 2 448 c.328G>T c.(328-330)GTG>TTG p.V110L VCAM1_uc001dtj.2_Missense_Mutation_p.V110L|VCAM1_uc010ouj.1_Intron NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 110 Ig-like C2-type 2.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGGAATCCAGGTGGAGATCTA 0.308 NA 16 38 4.54149e-19 5.63374e-19 0.002299 1 0 COL11A1 1301 broad.mit.edu 37 1 103404613 103404613 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:103404613C>T uc001dul.2 - 44 3734 c.3416G>A c.(3415-3417)AGC>AAC p.S1139N COL11A1_uc001duk.2_Missense_Mutation_p.S335N|COL11A1_uc001dum.2_Missense_Mutation_p.S1151N|COL11A1_uc001dun.2_Missense_Mutation_p.S1100N|COL11A1_uc009weh.2_Missense_Mutation_p.S1023N NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1139 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GTCACCCTTGCTGCCTTTTTG 0.328 NA 40 85 0 0 0.00361 0 0 AMY2B 280 broad.mit.edu 37 1 104120463 104120463 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:104120463G>T uc001duq.2 + 11 1958 c.1342G>T c.(1342-1344)GAC>TAC p.D448Y AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D448Y|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 448 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CAACAATGATGACTGGTAAGT 0.338 NA 63 110 1.15062e-32 1.50062e-32 0.00361 1 0 WDR77 79084 broad.mit.edu 37 1 111986713 111986713 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:111986713G>A uc001ebb.2 - 5 566 c.527C>T c.(526-528)TCT>TTT p.S176F WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.S112F NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 176 WD 3. ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) CTTGTGAGGAGAGGCAGCAAC 0.468 NA 12 68 0 0 0.001855 0 0 LOC647121 647121 broad.mit.edu 37 1 121310581 121310581 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:121310581T>C uc009wht.1 + 4 385 c.356T>C c.(355-357)CTG>CCG p.L119P LOC647121_uc001eiu.1_RNA Homo sapiens cDNA FLJ46881 fis, clone UTERU3015647, moderately similar to Embigin precursor. 0 CAGGAGTCTCTGGGCCAGTGA 0.333 NA 9 22 0 0 0.001882 0 0 SEC22B 9554 broad.mit.edu 37 1 145115793 145115793 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:145115793G>A uc001eml.1 + 7 692 c.552G>A c.(550-552)GCG>GCA p.A184A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 184 v-SNARE coiled-coil homology.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 GCCAGGATGCGAAGTACTTGA 0.398 NA 22 238 0 0 0.005443 0 0 BCL9 607 broad.mit.edu 37 1 147084819 147084819 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:147084819G>T uc001epq.2 + 5 931 c.191G>T c.(190-192)TGT>TTT p.C64F BCL9_uc010ozr.1_Intron NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 64 Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CCATCCCCCTGTGACTCCAAG 0.597 NA T IGH@|IGL@ B-ALL 7 29 8.12818e-05 8.53895e-05 0.001984 1 0 RFX5 5993 broad.mit.edu 37 1 151318730 151318730 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:151318730C>G uc001exv.1 - 3 281 c.67G>C c.(67-69)GAG>CAG p.E23Q RFX5_uc001exw.1_Missense_Mutation_p.E23Q|RFX5_uc009wmr.1_Missense_Mutation_p.E23Q|RFX5_uc010pcx.1_Missense_Mutation_p.E23Q NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 23 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCCCAGCCTCAGCACCACCT 0.567 NA 90 100 0 0 0.00361 0 0 TCHH 7062 broad.mit.edu 37 1 152082320 152082320 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:152082320T>C uc001ezp.2 - 2 3373 c.3373A>G c.(3373-3375)AGA>GGA p.R1125G TCHH_uc009wne.1_Missense_Mutation_p.R1125G NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1125 4-8.|10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cgttcctctctcagcagctgc 0.224 NA 4 153 0 0 0.009096 0 0 FLG2 388698 broad.mit.edu 37 1 152324674 152324674 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:152324674C>G uc001ezw.3 - 3 5661 c.5588G>C c.(5587-5589)GGA>GCA p.G1863A uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1863 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGGACTGTCCATGACCAGA 0.493 NA 164 198 0 0 0.00361 0 0 GATAD2B 57459 broad.mit.edu 37 1 153789011 153789011 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:153789011C>T uc001fdb.3 - 7 1198 c.954G>A c.(952-954)ATG>ATA p.M318I NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 318 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGCAAGGTTCATATAGATGG 0.507 NA 37 41 0 0 0.009718 0 0 FCRL4 83417 broad.mit.edu 37 1 157555986 157555986 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:157555986C>A uc001fqw.2 - 6 1243 c.1107G>T c.(1105-1107)CAG>CAT p.Q369H FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 369 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCACCATGCTCTGGACAGGGC 0.448 NA OREG0007229 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 32 114 6.03168e-27 7.69096e-27 0.004878 1 0 CD5L 922 broad.mit.edu 37 1 157803231 157803231 + Missense_Mutation SNP C C G rs146902396 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:157803231C>G uc001frk.3 - 5 933 c.790G>C c.(790-792)GTA>CTA p.V264L NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 264 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) GAGCCCCATACGCCCTTGTGC 0.567 NA 40 180 0 0 0.00361 0 0 OR10T2 128360 broad.mit.edu 37 1 158368962 158368962 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:158368962C>T uc010pih.1 - 1 295 c.295G>A c.(295-297)GCC>ACC p.A99T NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) AGCTGGGTGGCACAGGCCATG 0.498 NA 19 27 0 0 0.008871 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517795 158517795 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:158517795G>A uc010pil.1 - 1 101 c.101C>T c.(100-102)TCC>TTC p.S34F NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CAGGAAAATGGAGAAAAAGAG 0.443 NA 23 18 0 0 0.00333 0 0 CADM3 57863 broad.mit.edu 37 1 159170669 159170669 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:159170669G>A uc001ftl.2 + 9 1296 c.1154G>A c.(1153-1155)GGC>GAC p.G385D CADM3_uc001ftk.2_Missense_Mutation_p.G419D|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 385 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) AATGCAGAAGGCGGGCAGTCA 0.607 NA 55 80 0 0 0.00361 0 0 SLAMF8 56833 broad.mit.edu 37 1 159803054 159803054 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:159803054C>A uc001fue.3 + 4 886 c.676C>A c.(676-678)CCA>ACA p.P226T NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN SLAM family member 8 precursor 226 Extracellular (Potential). integral to membrane 0 all_hematologic(112;0.0597) ATGTTCAGCACCAGGGAAGGC 0.572 NA 175 206 4.17301e-93 5.58029e-93 0.00361 1 0 CCDC19 25790 broad.mit.edu 37 1 159850455 159850455 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:159850455C>A uc001fui.2 - 8 951 c.933G>T c.(931-933)ATG>ATT p.M311I CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.M226I|CCDC19_uc001ful.2_Missense_Mutation_p.M226I|CCDC19_uc009wtc.1_Missense_Mutation_p.M297I NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 311 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCTCAGCTTGCATCTTCAGTT 0.473 NA 13 57 1.05317e-09 1.18245e-09 0.00245 1 0 IGSF8 93185 broad.mit.edu 37 1 160064708 160064708 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:160064708G>A uc001fva.2 - 2 438 c.393C>T c.(391-393)TCC>TCT p.S131S IGSF8_uc001fuz.2_Silent_p.S131S|IGSF8_uc009wtf.2_Silent_p.S131S NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 131 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGGTATCAGTGGAGGGGGTGT 0.622 NA 20 73 0 0 0.00278 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161024435 161024435 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:161024435C>T uc001fxl.2 - 4 752 c.406G>A c.(406-408)GAA>AAA p.E136K ARHGAP30_uc001fxk.2_Missense_Mutation_p.E136K|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 isoform 1 136 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|upper_aerodigestive_tract(1) 3 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACAGGGAGTTCCCGAAGCACC 0.522 NA 33 127 0 0 0.009718 0 0 NUF2 83540 broad.mit.edu 37 1 163298026 163298026 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:163298026G>C uc001gcq.1 + 4 507 c.207G>C c.(205-207)GTG>GTC p.V69V NUF2_uc001gcp.2_Silent_p.V69V|NUF2_uc001gcr.1_Silent_p.V69V|NUF2_uc009wvc.1_Silent_p.V69V NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 69 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AGATGCCAGTGAACTCTGAAG 0.323 NA 50 49 0 0 0.00361 0 0 C1orf129 80133 broad.mit.edu 37 1 170967360 170967360 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:170967360T>A uc001ghg.2 + 15 1671 c.1541T>A c.(1540-1542)GTA>GAA p.V514E C1orf129_uc009wvy.2_Missense_Mutation_p.V321E|C1orf129_uc010plz.1_Missense_Mutation_p.V514E NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 514 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAGCTCTCAGTAGAAGGTCCT 0.398 NA 23 85 0 0 0.001882 0 0 C1orf9 51430 broad.mit.edu 37 1 172579007 172579007 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:172579007G>C uc001giq.3 + 24 3689 c.3373G>C c.(3373-3375)GAA>CAA p.E1125Q C1orf9_uc009wwd.2_Missense_Mutation_p.E1081Q|C1orf9_uc010pmn.1_Missense_Mutation_p.E754Q|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 1125 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) AAAGCCTGAAGAACCATTGCA 0.368 Colon(43;174 953 11768 38880 47057) NA 40 37 0 0 0.00361 0 0 TNR 7143 broad.mit.edu 37 1 175332847 175332847 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:175332847G>T uc001gkp.1 - 11 2785 c.2704C>A c.(2704-2706)CAA>AAA p.Q902K TNR_uc009wwu.1_Missense_Mutation_p.Q902K NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 902 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TTGTTACCTTGGGTGGGTCGA 0.453 NA 52 125 4.60343e-24 5.79441e-24 0.00361 1 0 PAPPA2 60676 broad.mit.edu 37 1 176659359 176659359 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:176659359T>C uc001gkz.2 + 5 3388 c.2224T>C c.(2224-2226)TAC>CAC p.Y742H PAPPA2_uc001gky.1_Missense_Mutation_p.Y742H|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 742 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TCTGGGACTCTACCATGTCTT 0.522 NA 53 142 0 0 0.00361 0 0 FAM5B 57795 broad.mit.edu 37 1 177199193 177199193 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:177199193G>T uc001glf.2 + 2 493 c.181G>T c.(181-183)GAC>TAC p.D61Y NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 61 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GCTGCTCACAGACCGGGGCCC 0.642 NA 31 82 4.11147e-13 4.78046e-13 0.003755 1 0 SEC16B 89866 broad.mit.edu 37 1 177902413 177902413 + Missense_Mutation SNP G G A rs77169763 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:177902413G>A uc001gli.1 - 22 2849 c.2759C>T c.(2758-2760)TCG>TTG p.S920L SEC16B_uc001glk.1_Missense_Mutation_p.S597L|SEC16B_uc009wwy.1_Missense_Mutation_p.S475L|SEC16B_uc001glh.1_Missense_Mutation_p.S579L|SEC16B_uc009wwz.1_Missense_Mutation_p.S579L|SEC16B_uc001glj.1_Missense_Mutation_p.S921L NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 920 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 GGTGGGCTTCGATCGAAACCA 0.577 NA 11 7 0 0 0.001368 0 0 C1orf26 54823 broad.mit.edu 37 1 185143850 185143850 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:185143850A>T uc001grg.3 + 5 685 c.571A>T c.(571-573)AAC>TAC p.N191Y C1orf26_uc001grh.3_Missense_Mutation_p.N191Y NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 191 0 GAAAGGAAGAAACAGTAAATT 0.348 NA 20 18 0 0 0.001882 0 0 TRAF5 7188 broad.mit.edu 37 1 211529722 211529722 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:211529722A>G uc001hih.2 + 4 350 c.290A>G c.(289-291)AAT>AGT p.N97S TRAF5_uc001hii.2_Missense_Mutation_p.N97S|TRAF5_uc010psx.1_Missense_Mutation_p.N97S|TRAF5_uc010psy.1_Missense_Mutation_p.N97S|TRAF5_uc001hij.2_Missense_Mutation_p.N97S NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 97 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TTTAAAGACAATTGTTGCAAA 0.358 NA 34 50 0 0 0.003755 0 0 USH2A 7399 broad.mit.edu 37 1 215848206 215848206 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:215848206G>T uc001hku.1 - 63 13434 c.13047C>A c.(13045-13047)ATC>ATA p.I4349I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4349 Fibronectin type-III 28.|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) CCAGAGTTGTGATGCTGGTGG 0.512 NA HNSCC(13;0.011) 34 32 3.33393e-15 3.95005e-15 0.004878 1 0 USH2A 7399 broad.mit.edu 37 1 216062108 216062108 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:216062108G>T uc001hku.1 - 41 8270 c.7883C>A c.(7882-7884)CCA>CAA p.P2628Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2628 Extracellular (Potential).|Fibronectin type-III 13. 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) CTCTGGACTTGGGATCCCTTC 0.498 NA HNSCC(13;0.011) 35 28 6.00712e-18 7.31951e-18 0.002445 1 0 USH2A 7399 broad.mit.edu 37 1 216246500 216246500 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:216246500G>A uc001hku.1 - 28 6102 c.5715C>T c.(5713-5715)TCC>TCT p.S1905S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1905 Fibronectin type-III 5.|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) AAACCAGGATGGAGTCATTTC 0.473 NA HNSCC(13;0.011) 20 23 0 0 0.008871 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220327347 220327347 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:220327347C>T uc010puk.1 - 32 3772 c.3608G>A c.(3607-3609)GGG>GAG p.G1203E RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.G783E|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.G147E NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1203 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) ATCCATTTCCCCACTAGGTAA 0.308 NA 5 195 0 0 0.001168 0 0 SRP9 6726 broad.mit.edu 37 1 225976981 225976981 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:225976981A>G uc001hpg.2 + 3 309 c.181A>G c.(181-183)AAG>GAG p.K61E SRP9_uc001hpf.3_RNA|SRP9_uc001hph.2_3'UTR|SRP9_uc001hpi.3_RNA NM_003133 NP_003124 P49458 SRP09_HUMAN signal recognition particle 9kDa isoform 2 61 negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding 0 AGATGTAAAGAAGATTGAGAA 0.348 NA 17 12 0 0 0.008361 0 0 LEFTY1 10637 broad.mit.edu 37 1 226076613 226076613 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:226076613C>A uc001hpo.2 - 1 224 c.154G>T c.(154-156)GTC>TTC p.V52F LEFTY1_uc010pvj.1_Intron|LEFTY1_uc009xej.1_Missense_Mutation_p.V52F NM_020997 NP_066277 O75610 LFTY1_HUMAN left-right determination, factor B 52 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) GTGGGGATGACCAGCTCCTCC 0.701 NA 4 33 1.23904e-05 1.3117e-05 0.000602 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232577108 232577108 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:232577108G>A uc001hvg.2 - 12 3729 c.3571C>T c.(3571-3573)CTG>TTG p.L1191L SIPA1L2_uc001hvf.2_Silent_p.L265L NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1191 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TAGGAACCCAGGACTTTGGAA 0.408 NA 88 280 0 0 0.00361 0 0 TARBP1 6894 broad.mit.edu 37 1 234546274 234546274 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:234546274C>T uc001hwd.2 - 23 3709 c.3709G>A c.(3709-3711)GAA>AAA p.E1237K NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1237 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AGATTTTCTTCACCCTGAAAA 0.348 NA 9 44 0 0 0.004482 0 0 RBM34 23029 broad.mit.edu 37 1 235324524 235324524 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:235324524C>T uc001hwn.2 - 1 48 c.18G>A c.(16-18)ATG>ATA p.M6I RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.M6I NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 6 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) TCCGTTTGCTCATCCCTTCCA 0.622 NA 77 120 0 0 0.00361 0 0 RYR2 6262 broad.mit.edu 37 1 237780642 237780642 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:237780642C>A uc001hyl.1 + 38 5892 c.5772C>A c.(5770-5772)GCC>GCA p.A1924A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1924 Cytoplasmic (By similarity).|4 X approximate repeats. 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) GGATAGAAGCCATTGTAGCCT 0.433 NA 8 30 3.09899e-07 3.35846e-07 0.004482 1 0 CNST 163882 broad.mit.edu 37 1 246784876 246784876 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:246784876A>G uc001ibp.2 + 3 903 c.525A>G c.(523-525)TCA>TCG p.S175S CNST_uc001ibo.3_Silent_p.S175S NM_152609 NP_689822 Q6PJW8 CNST_HUMAN hypothetical protein LOC163882 isoform 1 175 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding 0 CTCTGTTTTCACTTATACGAG 0.453 NA 52 170 0 0 0.00361 0 0 OR2G2 81470 broad.mit.edu 37 1 247752236 247752236 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:247752236G>T uc010pyy.1 + 1 575 c.575G>T c.(574-576)TGT>TTT p.C192F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGCTGGCTTGTGTGGGCACC 0.537 NA 54 78 1.0442e-30 1.35924e-30 0.00361 1 0 OR14C36 127066 broad.mit.edu 37 1 248512673 248512673 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:248512673C>A uc010pzl.1 + 1 597 c.597C>A c.(595-597)GTC>GTA p.V199V NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGATTGTTGTCTCTGCTCTGG 0.483 NA 26 86 3.73988e-18 4.57319e-18 0.00632 1 0 LARP4B 23185 broad.mit.edu 37 10 871104 871104 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:871104G>A uc001ifs.1 - 12 1426 c.1385C>T c.(1384-1386)ACA>ATA p.T462I NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 462 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TTGAATCCGTGTTCTAGTTTG 0.493 NA 54 86 0 0 0.00361 0 0 FBXO18 84893 broad.mit.edu 37 10 5965635 5965635 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:5965635C>T uc001iis.2 + 16 2469 c.2374C>T c.(2374-2376)CAG>TAG p.Q792* FBXO18_uc001iir.2_Nonsense_Mutation_p.Q718*|FBXO18_uc009xig.2_Nonsense_Mutation_p.Q718*|FBXO18_uc001iit.2_Nonsense_Mutation_p.Q843* NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 792 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GATCCTTCTTCAGCCAGAGGA 0.418 NA 17 52 0 0 0.008871 0 0 PHYH 5264 broad.mit.edu 37 10 13337539 13337539 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:13337539C>G uc001imf.2 - 3 290 c.202G>C c.(202-204)GTA>CTA p.V68L PHYH_uc001ime.2_5'UTR|PHYH_uc001img.2_Missense_Mutation_p.V49L NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 68 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTTTTGATTACTAGAAACCCA 0.323 NA 13 64 0 0 0.001855 0 0 KIF5B 3799 broad.mit.edu 37 10 32329346 32329346 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:32329346C>T uc001iwe.3 - 3 724 c.254G>A c.(253-255)GGA>GAA p.G85E NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 85 Kinesin-motor.|ATP. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) GGATGTTTGTCCATATGCAAA 0.323 NA 10 54 0 0 0.008291 0 0 C10orf68 79741 broad.mit.edu 37 10 33137593 33137593 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:33137593C>T uc001iwn.3 + 19 2044 c.1571C>T c.(1570-1572)ACA>ATA p.T524I C10orf68_uc001iwl.1_Missense_Mutation_p.T483I|C10orf68_uc001iwm.1_Missense_Mutation_p.T528I|C10orf68_uc010qei.1_Missense_Mutation_p.T500I|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 524 skin(2)|ovary(1) 3 AGGAGCATTACACCAAGTAAA 0.279 NA 11 50 0 0 0.000978 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49662178 49662178 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:49662178C>T uc001jgt.2 - 7 1116 c.819G>A c.(817-819)GTG>GTA p.V273V ARHGAP22_uc001jgs.2_Silent_p.V183V|ARHGAP22_uc001jgu.2_Silent_p.V289V|ARHGAP22_uc010qgl.1_Silent_p.V230V|ARHGAP22_uc010qgm.1_Silent_p.V279V|ARHGAP22_uc001jgv.2_5'UTR|ARHGAP22_uc001jgr.2_5'Flank NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 273 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 GAAGGTTGCTCACTTGTTTAG 0.527 NA 41 80 0 0 0.00361 0 0 OGDHL 55753 broad.mit.edu 37 10 50957830 50957830 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:50957830C>A uc001jie.2 - 8 1071 c.929G>T c.(928-930)CGC>CTC p.R310L OGDHL_uc009xog.2_Missense_Mutation_p.R337L|OGDHL_uc010qgt.1_Missense_Mutation_p.R253L|OGDHL_uc010qgu.1_Missense_Mutation_p.R101L|OGDHL_uc009xoh.2_Missense_Mutation_p.R101L NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 310 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 CAGGTCCTTGCGGATCACGTT 0.672 NA 11 14 1.08611e-07 1.18831e-07 0.000978 1 0 A1CF 29974 broad.mit.edu 37 10 52575818 52575818 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:52575818G>C uc001jjj.2 - 9 1277 c.1089C>G c.(1087-1089)GCC>GCG p.A363A A1CF_uc010qhn.1_Silent_p.A371A|A1CF_uc001jji.2_Silent_p.A363A|A1CF_uc001jjh.2_Silent_p.A371A|A1CF_uc010qho.1_Silent_p.A371A|A1CF_uc009xov.2_Silent_p.A363A NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 363 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 GTCCTTTGGTGGCTGGGAAAT 0.483 NA 17 51 0 0 0.008871 0 0 PCDH15 65217 broad.mit.edu 37 10 55591228 55591228 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:55591228C>T uc001jju.1 - 30 4444 c.4049G>A c.(4048-4050)CGC>CAC p.R1350H PCDH15_uc010qhq.1_Missense_Mutation_p.R1355H|PCDH15_uc010qhr.1_Missense_Mutation_p.R1350H|PCDH15_uc010qhs.1_Missense_Mutation_p.R1362H|PCDH15_uc010qht.1_Missense_Mutation_p.R1357H|PCDH15_uc010qhu.1_Missense_Mutation_p.R1350H|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1350H|PCDH15_uc010qhw.1_Missense_Mutation_p.R1313H|PCDH15_uc010qhx.1_Missense_Mutation_p.R1279H|PCDH15_uc010qhy.1_Missense_Mutation_p.R1355H|PCDH15_uc010qhz.1_Missense_Mutation_p.R1350H|PCDH15_uc010qia.1_Missense_Mutation_p.R1328H|PCDH15_uc010qib.1_Missense_Mutation_p.R1328H NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1350 Extracellular (Potential). 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) CTCCAGAATGCGTCCTCCTTC 0.418 NA HNSCC(58;0.16) 11 49 0 0 0.001855 0 0 IPMK 253430 broad.mit.edu 37 10 60027344 60027344 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:60027344G>A uc001jkb.2 - 1 351 c.28C>T c.(28-30)CGG>TGG p.R10W CISD1_uc001jkc.3_5'Flank NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN inositol polyphosphate multikinase 10 nucleus ATP binding|inositol trisphosphate 6-kinase activity ovary(1) 1 GCCTCGACCCGGAGGGGGGAT 0.677 NA 5 5 0 0 0.00308 0 0 ANK3 288 broad.mit.edu 37 10 61932732 61932732 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:61932732C>T uc001jky.2 - 20 2500 c.2308G>A c.(2308-2310)GCA>ACA p.A770T ANK3_uc001jkx.2_5'Flank|ANK3_uc010qih.1_Missense_Mutation_p.A753T|ANK3_uc001jkz.3_Missense_Mutation_p.A764T|ANK3_uc001jlb.1_Missense_Mutation_p.A299T|ANK3_uc001jlc.1_Missense_Mutation_p.A431T NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 770 ANK 22. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGCTGTGCTGCTTGATGTAAT 0.428 NA 16 80 0 0 0.008871 0 0 MYPN 84665 broad.mit.edu 37 10 69926080 69926080 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:69926080C>A uc001jnm.3 + 11 1815 c.1630C>A c.(1630-1632)CTT>ATT p.L544I MYPN_uc001jnl.1_Missense_Mutation_p.L544I|MYPN_uc001jnn.3_Missense_Mutation_p.L269I|MYPN_uc001jno.3_Missense_Mutation_p.L544I|MYPN_uc009xps.2_Missense_Mutation_p.L544I|MYPN_uc009xpt.2_Missense_Mutation_p.L544I|MYPN_uc010qit.1_Missense_Mutation_p.L250I|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 544 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CAACGGGTCTCTTCACTCAGC 0.552 NA 39 37 8.94452e-30 1.15773e-29 0.00361 1 0 DDX50 79009 broad.mit.edu 37 10 70706177 70706177 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:70706177G>C uc001jou.2 + 15 2112 c.2005G>C c.(2005-2007)GAT>CAT p.D669H DDX50_uc010qjc.1_Intron NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 669 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 AGAATATTATGATGGAAACAC 0.488 NA 14 49 0 0 0.003163 0 0 C10orf27 219793 broad.mit.edu 37 10 72539364 72539364 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:72539364G>A uc001jrj.1 - 5 802 c.412C>T c.(412-414)CCC>TCC p.P138S C10orf27_uc010qjm.1_Missense_Mutation_p.P138S|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.P138S|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Missense_Mutation_p.P127S|C10orf27_uc009xqj.1_Silent_p.T132T|C10orf27_uc010qjp.1_Missense_Mutation_p.P127S NM_152710 NP_689923 Q96M53 SPATL_HUMAN stromal protein associated with thymii and lymph 138 cell differentiation|multicellular organismal development|spermatogenesis cytosol skin(1) 1 GAAAGCTGGGGGTTCCGATTA 0.582 NA 20 30 0 0 0.001882 0 0 GRID1 2894 broad.mit.edu 37 10 87615890 87615890 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:87615890T>C uc001kdl.1 - 7 1110 c.1009A>G c.(1009-1011)AAG>GAG p.K337E GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 337 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCCTCCAGCTTCCTGTGAAAG 0.512 NA Multiple Myeloma(13;0.14) 27 47 0 0 0.009535 0 0 BMPR1A 657 broad.mit.edu 37 10 88659610 88659610 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:88659610C>G uc001kdy.2 + 6 941 c.393C>G c.(391-393)AAC>AAG p.N131K NM_004329 NP_004320 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 131 Extracellular (Potential). BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 8 ATTTATGTAACCAGTATTTGC 0.413 Ovarian(190;603 2086 22044 30335 47971) NA Mis|N|F gastrointestinal polyps Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis 3 104 0 0 0.000602 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98380131 98380131 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:98380131G>A uc001kmq.2 - 12 2047 c.1919C>T c.(1918-1920)TCG>TTG p.S640L PIK3AP1_uc001kmo.2_Missense_Mutation_p.S239L|PIK3AP1_uc001kmp.2_Missense_Mutation_p.S462L NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 640 cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AAAGGACTCCGATCGTTTCTT 0.368 NA 72 127 0 0 0.00361 0 0 SORCS1 114815 broad.mit.edu 37 10 108412183 108412183 + Missense_Mutation SNP G G T rs150967356 byFrequency TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:108412183G>T uc001kym.2 - 18 2440 c.2432C>A c.(2431-2433)GCG>GAG p.A811E SORCS1_uc001kyl.2_Missense_Mutation_p.A811E|SORCS1_uc009xxs.2_Missense_Mutation_p.A811E|SORCS1_uc001kyn.1_Missense_Mutation_p.A811E|SORCS1_uc001kyo.2_Missense_Mutation_p.A811E NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 811 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCCTTGTTCCGCTGTCAGCTT 0.522 NA 3 89 0.00909568 0.00929901 0.009096 1 0 SMC3 9126 broad.mit.edu 37 10 112337194 112337194 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:112337194C>T uc001kze.2 + 5 340 c.214C>T c.(214-216)CGT>TGT p.R72C NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 72 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TACTGGTCCTCGTGTTATTTC 0.299 NA 10 18 0 0 0.001855 0 0 TDRD1 56165 broad.mit.edu 37 10 115986915 115986915 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:115986915C>T uc001lbg.1 + 23 3413 c.3260C>T c.(3259-3261)TCT>TTT p.S1087F TDRD1_uc001lbf.2_Missense_Mutation_p.S964F|TDRD1_uc001lbh.1_Missense_Mutation_p.S1074F|TDRD1_uc001lbi.1_Missense_Mutation_p.S1078F|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Missense_Mutation_p.S796F NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1087 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GTAATGCTTTCTGTGAAAGGA 0.328 NA 13 24 0 0 0.001855 0 0 ATRNL1 26033 broad.mit.edu 37 10 117607396 117607396 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:117607396C>T uc001lcg.2 + 28 4298 c.3912C>T c.(3910-3912)CCC>CCT p.P1304P ATRNL1_uc010qsm.1_Silent_p.P433P|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1304 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGGGGGCACCCAAGCCAATTG 0.458 NA 12 18 0 0 0.001368 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118386379 118386379 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:118386379T>A uc001lcq.2 + 7 361 c.338T>A c.(337-339)ATG>AAG p.M113K PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 112 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) CCCCAGAAAATGTTTGAAGTG 0.522 NA 10 12 0 0 0.001855 0 0 ATE1 11101 broad.mit.edu 37 10 123662043 123662043 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:123662043C>A uc001lfp.2 - 6 758 c.676G>T c.(676-678)GCT>TCT p.A226S ATE1_uc001lfq.2_Missense_Mutation_p.A226S|ATE1_uc010qtr.1_Missense_Mutation_p.A111S|ATE1_uc010qts.1_Missense_Mutation_p.A130S|ATE1_uc010qtt.1_Missense_Mutation_p.A219S|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 226 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) AGTTCTCCAGCTGGGTTCTGC 0.433 NA 16 37 0.000308642 0.000321776 0.003163 1 0 TACC2 10579 broad.mit.edu 37 10 123970110 123970110 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:123970110C>T uc001lfv.2 + 9 6530 c.6170C>T c.(6169-6171)TCA>TTA p.S2057L TACC2_uc001lfw.2_Missense_Mutation_p.S203L|TACC2_uc009xzx.2_Missense_Mutation_p.S2012L|TACC2_uc010qtv.1_Missense_Mutation_p.S2061L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.S135L|TACC2_uc001lga.2_Missense_Mutation_p.S135L|TACC2_uc009xzy.2_Missense_Mutation_p.S135L|TACC2_uc001lgb.2_Missense_Mutation_p.S92L|TACC2_uc010qtw.1_Missense_Mutation_p.S152L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2057 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTCGTGCCTCAGACGCTAAG 0.522 NA 27 58 0 0 0.008361 0 0 C10orf137 26098 broad.mit.edu 37 10 127414318 127414318 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:127414318G>C uc001liq.1 + 6 996 c.703G>C c.(703-705)GAT>CAT p.D235H C10orf137_uc001lin.2_Missense_Mutation_p.D235H|C10orf137_uc001lio.1_Missense_Mutation_p.D235H|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GTCCAGTTCAGATCAGACAAA 0.483 NA 13 31 0 0 0.001368 0 0 MMP21 118856 broad.mit.edu 37 10 127460821 127460821 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:127460821G>C uc001liu.2 - 4 945 c.945C>G c.(943-945)GAC>GAG p.D315E NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 315 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGTCTGACCAGTCCAACTCAA 0.517 NA 22 74 0 0 0.00278 0 0 EBF3 253738 broad.mit.edu 37 10 131761712 131761712 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:131761712G>T uc001lki.1 - 2 269 c.210C>A c.(208-210)TTC>TTA p.F70L EBF3_uc010qur.1_Missense_Mutation_p.F56L NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 70 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCGCCAGCACGAAGTGGAAGA 0.582 NA 15 65 6.31663e-08 6.93313e-08 0.003163 1 0 C10orf91 170393 broad.mit.edu 37 10 134261355 134261355 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:134261355G>A uc001llm.2 + 3 268 c.228G>A c.(226-228)ACG>ACA p.T76T NM_173541 NP_775812 Q5T1B1 CJ091_HUMAN hypothetical protein LOC170393 76 ovary(1) 1 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) CCCAGACCACGAGAGCGCTTT 0.627 NA 51 167 0 0 0.00361 0 0 OR51F1 256892 broad.mit.edu 37 11 4790238 4790238 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:4790238C>A uc010qyl.1 - 1 910 c.910G>T c.(910-912)GCT>TCT p.A304S NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 304 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CTGAGCATAGCCTTGCGGATT 0.428 NA 26 76 5.45727e-16 6.54491e-16 0.008361 1 0 OR51B2 79345 broad.mit.edu 37 11 5345279 5345279 + Silent SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:5345279T>C uc001mao.1 - 1 304 c.249A>G c.(247-249)CTA>CTG p.L83L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTCACCCATAGGATGCCCA 0.507 NA 18 68 0 0 0.007413 0 0 OR10A2 341276 broad.mit.edu 37 11 6891617 6891617 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:6891617C>A uc001meu.1 + 1 632 c.632C>A c.(631-633)GCC>GAC p.A211D NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 211 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTGCTGCTGCCATCCTCAAG 0.453 NA 46 82 4.88482e-21 6.09271e-21 0.00361 1 0 NLRP14 338323 broad.mit.edu 37 11 7064056 7064056 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:7064056G>T uc001mfb.1 + 4 1122 c.799G>T c.(799-801)GCC>TCC p.A267S NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 267 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ACTGAACTTTGCCTTTGAAGA 0.468 NA 30 65 4.02929e-09 4.50178e-09 0.002096 1 0 PPFIBP2 8495 broad.mit.edu 37 11 7662787 7662787 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:7662787C>A uc001mfj.3 + 16 1841 c.1453C>A c.(1453-1455)CCT>ACT p.P485T PPFIBP2_uc010rbb.1_Missense_Mutation_p.P408T|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.P419T|PPFIBP2_uc010rbd.1_Missense_Mutation_p.P327T|PPFIBP2_uc010rbe.1_Missense_Mutation_p.P373T|PPFIBP2_uc001mfl.3_Missense_Mutation_p.P342T|PPFIBP2_uc009yfj.1_Missense_Mutation_p.P129T NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 485 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGAATCAGGTCCTCAGTCTCC 0.473 NA 28 69 1.12875e-08 1.25295e-08 0.00632 1 0 OVCH2 341277 broad.mit.edu 37 11 7718041 7718041 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:7718041G>A uc010rbf.1 - 10 1112 c.1112C>T c.(1111-1113)TCA>TTA p.S371L NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) AGAATACATTGACAGGTAACT 0.453 NA 20 39 0 0 0.001882 0 0 SERGEF 26297 broad.mit.edu 37 11 17981053 17981053 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:17981053C>T uc001mnm.2 - 9 1055 c.975G>A c.(973-975)ATG>ATA p.M325I SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Intron|SERGEF_uc010rcz.1_Intron|SERGEF_uc001mno.1_Missense_Mutation_p.M211I NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 325 RCC1 6. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 GAGACGAAGGCATGCTGTTCG 0.418 NA 20 53 0 0 0.00278 0 0 NAV2 89797 broad.mit.edu 37 11 20129313 20129313 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:20129313C>T uc001mpr.3 + 36 7315 c.6954C>T c.(6952-6954)GTC>GTT p.V2318V NAV2_uc001mpp.2_Silent_p.V2251V|NAV2_uc009yhx.2_Silent_p.V1379V|NAV2_uc009yhz.2_Silent_p.V960V|NAV2_uc001mpu.2_Silent_p.V753V|NAV2_uc001mpv.2_Silent_p.V77V NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 2374 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 TGGAAGCCGTCAGAGAAGGAC 0.552 NA 63 117 0 0 0.00361 0 0 PRMT3 10196 broad.mit.edu 37 11 20483592 20483592 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:20483592T>C uc001mqb.2 + 12 1356 c.1139T>C c.(1138-1140)ATT>ACT p.I380T PRMT3_uc001mqc.2_Missense_Mutation_p.I303T|PRMT3_uc010rdn.1_Missense_Mutation_p.I318T NM_005788 NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 isoform 1 380 zinc ion binding 0 GCTGATAGAATTGCTTTTTGG 0.388 NA 36 77 0 0 0.004878 0 0 C11orf74 119710 broad.mit.edu 37 11 36657643 36657643 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:36657643G>T uc001mwy.1 + 4 407 c.334G>T c.(334-336)GAG>TAG p.E112* C11orf74_uc010rfd.1_Intron|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA NM_138787 NP_620142 Q86VG3 CK074_HUMAN hypothetical protein LOC119710 112 0 all_lung(20;0.226) all_hematologic(20;0.0118) CATGGATGAAGAGATTAAACC 0.328 NA 15 20 3.99206e-14 4.6733e-14 0.007413 1 0 OR4A5 81318 broad.mit.edu 37 11 51412202 51412202 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:51412202G>T uc001nhi.1 - 1 194 c.194C>A c.(193-195)TCA>TAA p.S65* NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ATCTATAAATGACAGGCAGGC 0.443 NA 17 52 4.63292e-17 5.61517e-17 0.008871 1 0 OR4A16 81327 broad.mit.edu 37 11 55111087 55111088 + Missense_Mutation DNP GG GG CT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:55111087_55111088GG>CT uc010rie.1 + 1 411_412 c.411_412GG>CT c.(409-414)CTGGTT>CTCTTT p.V138F NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 138 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TGAATCGACTGGTTTGCATCCT 0.47 NA 29 60 0 0 0.004672 0 0 OR5D13 390142 broad.mit.edu 37 11 55541372 55541372 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:55541372G>T uc010ril.1 + 1 459 c.459G>T c.(457-459)TGG>TGT p.W153C NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) CCTATACATGGGGGATAGTGT 0.408 NA 40 122 1.61572e-30 2.09922e-30 0.002522 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798703 55798703 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:55798703C>A uc010riw.1 + 1 809 c.809C>A c.(808-810)ACT>AAT p.T270N NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TCCCTAGACACTGATAAGGTG 0.398 NA 15 45 7.93312e-07 8.52997e-07 0.00245 1 0 OR5J2 282775 broad.mit.edu 37 11 55944812 55944812 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:55944812C>A uc010rjb.1 + 1 719 c.719C>A c.(718-720)ACC>AAC p.T240N NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GCCTTCTCCACCTGTGCCTCT 0.468 NA 32 68 2.52637e-11 2.89331e-11 0.005524 1 0 OR5T2 219464 broad.mit.edu 37 11 55999647 55999647 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:55999647A>T uc010rjc.1 - 1 1015 c.1015T>A c.(1015-1017)TCA>ACA p.S339T NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 339 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTTTTCATTGAGTCTTTTACA 0.333 NA 25 45 0 0 0.004656 0 0 LRRC55 219527 broad.mit.edu 37 11 56949704 56949704 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:56949704C>A uc001njl.1 + 1 484 c.337C>A c.(337-339)CTC>ATC p.L113I NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 83 LRR 1. integral to membrane 0 CACCCGAAACCTCAGCCTGGC 0.587 NA 23 41 1.80694e-10 2.04886e-10 0.009535 1 0 CLP1 10978 broad.mit.edu 37 11 57428873 57428873 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:57428873C>T uc001nkw.2 + 3 1382 c.1243C>T c.(1243-1245)CTC>TTC p.L415F CLP1_uc010rjw.1_Missense_Mutation_p.L351F|CLP1_uc009yml.2_Missense_Mutation_p.L415F NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 415 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 GAACTTCCTTCTCATCATGGA 0.527 NA 4 138 0 0 0.009096 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958095 57958095 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:57958095A>G uc010rka.1 + 1 133 c.133A>G c.(133-135)ATG>GTG p.M45V NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GAACACAGGCATGATCCTCCT 0.498 NA 11 19 0 0 0.000978 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995839 57995839 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:57995839A>G uc010rkd.1 - 1 509 c.509T>C c.(508-510)CTG>CCG p.L170P NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GCAAAAGGGCAGGGTGAAGAT 0.652 NA 13 24 0 0 0.00245 0 0 OSBP 5007 broad.mit.edu 37 11 59367987 59367987 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:59367987G>C uc001noc.1 - 7 1773 c.1293C>G c.(1291-1293)CTC>CTG p.L431L OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 431 Sterol binding (By similarity). lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGATCTTAGAGAGTTCTTTTC 0.478 NA 7 158 0 0 0.008291 0 0 CCDC86 79080 broad.mit.edu 37 11 60610191 60610191 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:60610191A>G uc001nqa.2 + 1 763 c.594A>G c.(592-594)CCA>CCG p.P198P CCDC86_uc001nqb.2_5'UTR NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 198 Pro-rich. interspecies interaction between organisms nucleus 0 CGAGCAAGCCACCTCCAGCTG 0.637 NA 3 15 0 0 0.000602 0 0 SYT7 9066 broad.mit.edu 37 11 61295611 61295611 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:61295611C>G uc001nrv.2 - 5 404 c.398G>C c.(397-399)CGA>CCA p.R133P SYT7_uc009ynr.2_Missense_Mutation_p.R208P NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 133 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CAGGTTCTCTCGGCTGCAACC 0.647 NA 40 71 0 0 0.00361 0 0 AHNAK 79026 broad.mit.edu 37 11 62287401 62287401 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:62287401C>T uc001ntl.2 - 5 14788 c.14488G>A c.(14488-14490)GCA>ACA p.A4830T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4830 A -> P (in Ref. 2; AAA69898). nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTCAGTTTTGCGTCTGGACCT 0.488 NA 46 99 0 0 0.00361 0 0 LGALS12 85329 broad.mit.edu 37 11 63283785 63283785 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:63283785A>T uc001nxa.2 + 9 1272 c.931A>T c.(931-933)AGC>TGC p.S311C LGALS12_uc001nxb.2_Missense_Mutation_p.S302C|LGALS12_uc001nxc.2_Missense_Mutation_p.S312C|LGALS12_uc001nxd.2_Missense_Mutation_p.S250C|LGALS12_uc001nxe.2_Missense_Mutation_p.S241C|LGALS12_uc009yot.2_Missense_Mutation_p.S271C NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 311 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 GGGGGCCACCAGCATGAACCA 0.622 NA 28 44 0 0 0.009535 0 0 PLCB3 5331 broad.mit.edu 37 11 64023072 64023072 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:64023072G>T uc001nzb.2 + 7 581 c.581G>T c.(580-582)GGC>GTC p.G194V PLCB3_uc009ypg.1_Missense_Mutation_p.G194V|PLCB3_uc009yph.1_Missense_Mutation_p.G127V|PLCB3_uc009ypi.2_Missense_Mutation_p.G194V NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 194 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 GAATCCTGTGGCCTCAAATTC 0.637 NA 50 83 2.48254e-18 3.04655e-18 0.00361 1 0 PLCB3 5331 broad.mit.edu 37 11 64033811 64033811 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:64033811C>G uc001nzb.2 + 28 3291 c.3291C>G c.(3289-3291)ATC>ATG p.I1097M PLCB3_uc009ypg.1_Missense_Mutation_p.I1097M|PLCB3_uc009yph.1_Missense_Mutation_p.I1030M|PLCB3_uc009ypi.2_Missense_Mutation_p.I1097M NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 1097 REKKELQKILDRKRHNSISEAKMRDKHKKEA -> SWPSWP RSVRSSGRGSPRRSAGACWARCRRG (in Ref. 2; CAA85776). intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 TGCAGAAGATCCTGGACAGAA 0.587 NA 10 56 0 0 0.00245 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788969 65788969 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:65788969G>C uc001ogt.2 - 4 1827 c.1689C>G c.(1687-1689)CTC>CTG p.L563L NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 563 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 CCACTGACCTGAGCCTCCGCA 0.617 NA 14 34 0 0 0.00499 0 0 RBM14 10432 broad.mit.edu 37 11 66392840 66392840 + Missense_Mutation SNP A A G rs144272368 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:66392840A>G uc001oit.2 + 2 1632 c.1493A>G c.(1492-1494)TAT>TGT p.Y498C RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron NM_006328 NP_006319 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 498 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity ovary(2)|central_nervous_system(1) 3 ACTGGCTCCTATGGTGCCGCA 0.622 NA 14 46 0 0 0.004007 0 0 LRP5 4041 broad.mit.edu 37 11 68193529 68193529 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:68193529G>T uc001ont.2 + 16 3586 c.3511G>T c.(3511-3513)GAC>TAC p.D1171Y LRP5_uc009ysg.2_Missense_Mutation_p.D581Y NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1171 LDL-receptor class B 20.|Beta-propeller 4.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTACTGGATCGACCGCCAGCA 0.642 NA 52 124 3.7469e-33 4.90529e-33 0.00361 1 0 ANO1 55107 broad.mit.edu 37 11 69950235 69950235 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:69950235T>A uc001opj.2 + 4 976 c.671T>A c.(670-672)TTC>TAC p.F224Y ANO1_uc001opk.1_Missense_Mutation_p.F196Y|ANO1_uc001opl.1_RNA NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 224 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TCCTATCCCTTCTCCCGGGAG 0.522 NA 7 13 0 0 0.004482 0 0 C2CD3 26005 broad.mit.edu 37 11 73801966 73801966 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:73801966C>A uc001ouu.2 - 20 3760 c.3533G>T c.(3532-3534)GGC>GTC p.G1178V NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1178 C2 1. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GTACCTTAGGCCCACATCCAG 0.488 NA 12 26 1.5842e-08 1.75567e-08 0.001855 1 0 TYR 7299 broad.mit.edu 37 11 88911070 88911070 + Translation_Start_Site SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:88911070C>A uc001pcs.2 + 1 31 c.-51C>A c.(-53--49)ATCTG>ATATG NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AAAGAGAAATCTGTGACTCCA 0.458 NA Oculocutaneous_Albinism 5 15 0.000602214 0.000625938 0.000602 1 0 CNTN5 53942 broad.mit.edu 37 11 99690455 99690455 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:99690455C>G uc001pga.2 + 4 575 c.236C>G c.(235-237)CCC>CGC p.P79R CNTN5_uc009ywv.1_Missense_Mutation_p.P79R|CNTN5_uc001pfz.2_Missense_Mutation_p.P79R|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 79 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TATTATTCCCCCATCAATCTT 0.333 NA 6 12 0 0 0.001168 0 0 TRPC6 7225 broad.mit.edu 37 11 101347075 101347075 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:101347075C>A uc001pgk.3 - 6 2126 c.1701G>T c.(1699-1701)TTG>TTT p.L567F TRPC6_uc009ywy.2_Missense_Mutation_p.L451F|TRPC6_uc009ywz.1_Missense_Mutation_p.L512F NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 567 Extracellular (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTACTTTCGTCAAGTCCTTCA 0.363 Colon(166;1315 1927 11094 12848 34731) NA 16 48 8.28177e-16 9.89773e-16 0.007413 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103153800 103153800 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:103153800G>A uc001pho.2 + 73 11020 c.10876G>A c.(10876-10878)GTG>ATG p.V3626M DYNC2H1_uc001phn.1_Missense_Mutation_p.V3633M|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3626 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) AAGCTGGGCCGTGGCAACATT 0.353 NA 9 24 0 0 0.008291 0 0 SIK2 23235 broad.mit.edu 37 11 111592583 111592583 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:111592583C>T uc001plt.2 + 13 2092 c.1974C>T c.(1972-1974)GTC>GTT p.V658V NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 658 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 AGGAAAGCGTCTCCACTCTCC 0.567 NA 28 42 0 0 0.004289 0 0 PIH1D2 120379 broad.mit.edu 37 11 111941400 111941400 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:111941400G>C uc001pmq.3 - 5 655 c.573C>G c.(571-573)AGC>AGG p.S191R PIH1D2_uc009yyl.2_Missense_Mutation_p.S191R|PIH1D2_uc001pmp.3_Missense_Mutation_p.S191R|PIH1D2_uc010rws.1_Missense_Mutation_p.S191R NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN PIH1 domain containing 2 isoform 1 191 ovary(1) 1 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) TCATAGTACTGCTTCGTATCT 0.363 NA 4 75 0 0 0.001168 0 0 TTC12 54970 broad.mit.edu 37 11 113194080 113194080 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:113194080G>C uc001pnu.2 + 3 234 c.129G>C c.(127-129)AAG>AAC p.K43N TTC12_uc001pnv.2_Missense_Mutation_p.K43N|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_5'UTR NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 43 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AGACAGAAAAGAGACTACTGC 0.433 NA 37 68 0 0 0.005524 0 0 APOA1 335 broad.mit.edu 37 11 116707841 116707841 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:116707841C>T uc001ppu.1 - 3 155 c.76G>A c.(76-78)GAA>AAA p.E26K APOA1_uc001ppv.1_Missense_Mutation_p.E26K NM_000039 NP_000030 P02647 APOA1_HUMAN apolipoprotein A-I preproprotein 26 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGGGGGGGTTCATCTTGCTGC 0.602 NA 21 74 0 0 0.010504 0 0 HYOU1 10525 broad.mit.edu 37 11 118926253 118926253 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:118926253C>G uc001puu.2 - 4 409 c.216G>C c.(214-216)GTG>GTC p.V72V HYOU1_uc001put.2_Silent_p.V37V|HYOU1_uc010ryu.1_Silent_p.V92V|HYOU1_uc010ryv.1_Intron|HYOU1_uc001pux.3_Silent_p.V72V|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Silent_p.V72V NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 72 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CTTTCAGGGTCACGATCACCG 0.532 NA 20 81 0 0 0.003954 0 0 TRIM29 23650 broad.mit.edu 37 11 119989012 119989012 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:119989012C>A uc001pwz.2 - 7 1670 c.1546G>T c.(1546-1548)GTC>TTC p.V516F TRIM29_uc001pwx.2_RNA|TRIM29_uc001pwy.2_Missense_Mutation_p.V49F|TRIM29_uc010rzi.1_Missense_Mutation_p.V255F|TRIM29_uc010rzj.1_Missense_Mutation_p.V249F|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 516 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) TACTCCCAGACCCGGGAGGTG 0.602 NA 20 29 7.41877e-09 8.24843e-09 0.001882 1 0 TMEM225 338661 broad.mit.edu 37 11 123753962 123753962 + Silent SNP A A G rs148160664 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:123753962A>G uc001pzi.2 - 4 769 c.561T>C c.(559-561)TCT>TCC p.S187S NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 187 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 TATCTTCGATAGAATTCTCAG 0.433 NA 6 38 0 0 0.003163 0 0 OR8G2 26492 broad.mit.edu 37 11 124096005 124096006 + Nonsense_Mutation DNP CC CC AA TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:124096005_124096006CC>AA uc010saf.1 + 1 608_609 c.608_609CC>AA c.(607-609)TCC>TAA p.S203* NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 203 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTCTCCTGCTCCAGCACCTACA 0.421 NA 41 78 0 0 0.004672 0 0 OR8B8 26493 broad.mit.edu 37 11 124310488 124310488 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:124310488C>T uc010sal.1 - 1 494 c.494G>A c.(493-495)GGT>GAT p.G165D NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G165R(1) ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GAAGGTCACACCCATCATGCA 0.512 NA 11 35 0 0 0.008291 0 0 ST14 6768 broad.mit.edu 37 11 130064080 130064080 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr11:130064080C>T uc001qfw.2 + 8 1105 c.912C>T c.(910-912)ACC>ACT p.T304T ST14_uc010sca.1_Silent_p.T114T NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 304 Extracellular (Potential).|CUB 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) ACAACCTGACCTTCCACTCCT 0.577 NA 78 159 0 0 0.00361 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1910245 1910245 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:1910245C>T uc001qjp.2 - 31 3063 c.2832G>A c.(2830-2832)TCG>TCA p.S944S CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc001qjo.2_Silent_p.S89S|CACNA2D4_uc001qjs.1_Silent_p.S11S|CACNA2D4_uc010sdw.1_Silent_p.S74S|CACNA2D4_uc009zdr.1_RNA NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 944 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGTGGTGACTCGAGGGTTTGC 0.607 Colon(2;101 179 21030 23310 28141) NA OREG0021569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 84 0 0 0.003214 0 0 TPI1 7167 broad.mit.edu 37 12 6978853 6978853 + Silent SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:6978853T>C uc001qrk.2 + 5 497 c.459T>C c.(457-459)GAT>GAC p.D153D TPI1_uc010sfo.1_Silent_p.D71D NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 153 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 GCCCTGCAGATAACGTGAAGG 0.577 NA OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 128 0 0 0.00361 0 0 LRRC23 10233 broad.mit.edu 37 12 7015087 7015087 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:7015087C>G uc001qrt.3 + 3 597 c.205C>G c.(205-207)CAT>GAT p.H69D LRRC23_uc001qrn.1_Missense_Mutation_p.H69D|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.H69D|LRRC23_uc001qrq.2_Missense_Mutation_p.H69D|LRRC23_uc001qrr.2_Intron|LRRC23_uc001qrs.2_Intron|LRRC23_uc009zfh.2_Missense_Mutation_p.H69D NM_001135217 NP_001128689 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 isoform a 69 ovary(1) 1 TGGGCTGGCTCATGCTTATGT 0.542 NA 23 55 0 0 0.00632 0 0 ACSM4 341392 broad.mit.edu 37 12 7480967 7480967 + Nonstop_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:7480967T>C uc001qsx.1 + 13 1741 c.1741T>C c.(1741-1743)TAG>CAG p.*581Q NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 581 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 GAGAGGAAGATAGTTTGATAA 0.348 NA 5 8 0 0 0.001168 0 0 C3AR1 719 broad.mit.edu 37 12 8211415 8211415 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:8211415G>C uc001qtv.1 - 2 1459 c.1367C>G c.(1366-1368)GCA>GGA p.A456G NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 456 Cytoplasmic (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) ACTGAAGGCTGCCTCCAGAAT 0.458 NA 28 44 0 0 0.008361 0 0 KLRD1 3824 broad.mit.edu 37 12 10462274 10462274 + Silent SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:10462274A>T uc001qxw.3 + 4 347 c.150A>T c.(148-150)ATA>ATT p.I50I KLRD1_uc001qxx.3_Silent_p.I50I|KLRD1_uc001qxy.3_Silent_p.I19I|KLRD1_uc009zhh.2_Intron|KLRD1_uc009zhi.2_Silent_p.I50I|KLRD1_uc001qxz.3_Silent_p.I50I NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 50 Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 GACCCAACATAGAACTCCAGA 0.333 NA 18 12 0 0 0.005443 0 0 PDE3A 5139 broad.mit.edu 37 12 20522876 20522876 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:20522876G>C uc001reh.1 + 1 680 c.658G>C c.(658-660)GCG>CCG p.A220P NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 220 Helical; (Potential). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTTGACTAGCGCGGTCAGGAC 0.657 NA 15 27 0 0 0.00499 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20885847 20885847 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:20885847C>T uc001rej.3 + 11 1546 c.1191C>T c.(1189-1191)CTC>CTT p.L397L SLCO1C1_uc010sii.1_Silent_p.L397L|SLCO1C1_uc010sij.1_Silent_p.L348L|SLCO1C1_uc009zip.2_Silent_p.L231L|SLCO1C1_uc001rei.2_Silent_p.L397L|SLCO1C1_uc010sik.1_Silent_p.L279L NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 397 Helical; Name=8; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TCTCAGGGCTCATCAACATTC 0.353 NA 24 17 0 0 0.007291 0 0 KIAA0528 9847 broad.mit.edu 37 12 22646262 22646262 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:22646262T>A uc001rfq.2 - 11 1385 c.1157A>T c.(1156-1158)GAA>GTA p.E386V KIAA0528_uc010sir.1_Missense_Mutation_p.E201V|KIAA0528_uc010sis.1_Missense_Mutation_p.E386V|KIAA0528_uc010sit.1_Missense_Mutation_p.E388V|KIAA0528_uc010siu.1_Missense_Mutation_p.E386V|KIAA0528_uc001rfr.2_Missense_Mutation_p.E377V|KIAA0528_uc009ziy.1_Missense_Mutation_p.E388V NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 386 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 ATCTCGAGTTTCTGGTTCATC 0.328 NA 34 45 0 0 0.005524 0 0 C12orf71 728858 broad.mit.edu 37 12 27234319 27234319 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:27234319C>T uc001rhq.2 - 2 637 c.598G>A c.(598-600)GAC>AAC p.D200N NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 200 0 GAAGGAGTGTCATCCTTCTCT 0.562 NA 38 34 0 0 0.006999 0 0 CNTN1 1272 broad.mit.edu 37 12 41353010 41353010 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:41353010C>T uc001rmm.1 + 15 1891 c.1778C>T c.(1777-1779)TCA>TTA p.S593L CNTN1_uc009zjy.1_Missense_Mutation_p.S593L|CNTN1_uc001rmn.1_Missense_Mutation_p.S582L|CNTN1_uc001rmo.2_Missense_Mutation_p.S593L NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 593 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GACAATTCTTCAGCTTCAGCT 0.383 NA 16 36 0 0 0.00499 0 0 ARID2 196528 broad.mit.edu 37 12 46245869 46245869 + Silent SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:46245869A>T uc001ros.1 + 15 3963 c.3963A>T c.(3961-3963)CTA>CTT p.L1321L ARID2_uc001ror.2_Silent_p.L1321L|ARID2_uc009zkg.1_Silent_p.L777L|ARID2_uc009zkh.1_Silent_p.L948L|ARID2_uc001rou.1_Silent_p.L655L NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1321 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGTGCTCACTAATCAGTAATG 0.393 NA 15 57 0 0 0.010504 0 0 SMARCD1 6602 broad.mit.edu 37 12 50483734 50483734 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:50483734T>A uc001rvx.3 + 7 1009 c.839T>A c.(838-840)GTA>GAA p.V280E SMARCD1_uc001rvy.3_Missense_Mutation_p.V280E|SMARCD1_uc009zlp.2_Missense_Mutation_p.V239E NM_003076 NP_003067 Q96GM5 SMRD1_HUMAN SWI/SNF-related matrix-associated 280 Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|Interaction with SMARCC1 and SMARCC2. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity ovary(1) 1 GACGTGAATGTACGGTGTACT 0.557 NA 25 56 0 0 0.002836 0 0 SLC4A8 9498 broad.mit.edu 37 12 51865142 51865142 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:51865142T>C uc001rys.1 + 14 1908 c.1730T>C c.(1729-1731)CTT>CCT p.L577P SLC4A8_uc010sni.1_Missense_Mutation_p.L524P|SLC4A8_uc001rym.2_Missense_Mutation_p.L524P|SLC4A8_uc001ryn.2_Missense_Mutation_p.L524P|SLC4A8_uc001ryo.2_Missense_Mutation_p.L524P|SLC4A8_uc010snj.1_Missense_Mutation_p.L604P|SLC4A8_uc001ryq.3_Missense_Mutation_p.L577P|SLC4A8_uc001ryr.2_Missense_Mutation_p.L577P|SLC4A8_uc010snk.1_Missense_Mutation_p.L524P NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 577 Helical; (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) TGTATTGTCCTTGTGGCAACT 0.438 NA 40 77 0 0 0.00623 0 0 SLC4A8 9498 broad.mit.edu 37 12 51865208 51865208 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:51865208C>T uc001rys.1 + 14 1974 c.1796C>T c.(1795-1797)TCC>TTC p.S599F SLC4A8_uc010sni.1_Missense_Mutation_p.S546F|SLC4A8_uc001rym.2_Missense_Mutation_p.S546F|SLC4A8_uc001ryn.2_Missense_Mutation_p.S546F|SLC4A8_uc001ryo.2_Missense_Mutation_p.S546F|SLC4A8_uc010snj.1_Missense_Mutation_p.S626F|SLC4A8_uc001ryq.3_Missense_Mutation_p.S599F|SLC4A8_uc001ryr.2_Missense_Mutation_p.S599F|SLC4A8_uc010snk.1_Missense_Mutation_p.S546F NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 599 Helical; (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) GCATTTGCCTCCCTAATTTGC 0.468 NA 24 83 0 0 0.004656 0 0 KRT75 9119 broad.mit.edu 37 12 52827669 52827670 + Missense_Mutation DNP GG GG TT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:52827669_52827670GG>TT uc001saj.2 - 1 441_442 c.419_420CC>AA c.(418-420)CCC>CAA p.P140Q NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 140 Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GCTGGATGGTGGGGTCGATTTG 0.599 NA 42 113 0 0 0.004672 0 0 KRT3 3850 broad.mit.edu 37 12 53189278 53189278 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:53189278G>T uc001say.2 - 1 615 c.549C>A c.(547-549)CTC>CTA p.L183L NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 183 Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 TCTCCACATTGAGGGGCTGCA 0.547 NA 19 35 5.35267e-07 5.78257e-07 0.007413 1 0 SP1 6667 broad.mit.edu 37 12 53776438 53776438 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:53776438T>C uc001scw.2 + 3 804 c.707T>C c.(706-708)GTC>GCC p.V236A SP1_uc010sog.1_Missense_Mutation_p.V229A NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 236 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) CAGCAGGCTGTCCCCCTCCAA 0.488 NA 3 136 0 0 0.009096 0 0 MAP3K12 7786 broad.mit.edu 37 12 53875980 53875980 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:53875980C>G uc001sdm.1 - 14 2324 c.2226G>C c.(2224-2226)CTG>CTC p.L742L MAP3K12_uc001sdn.1_Silent_p.L775L NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 742 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GGCGCATGTTCAGGCTCTGAG 0.498 NA OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 126 0 0 0.00361 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975868 54975868 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:54975868C>T uc001sgg.2 - 5 466 c.295G>A c.(295-297)GAG>AAG p.E99K NM_006741 NP_006732 Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) 99 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity 0 TCAGGTTCCTCTCCTTGCTGC 0.597 NA 10 32 0 0 0.000978 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638527 56638527 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:56638527C>T uc001skm.3 - 24 2721 c.2631G>A c.(2629-2631)CTG>CTA p.L877L NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 877 ANK 25. protein binding ovary(2) 2 GATGCTGCAGCAGCATCCGGA 0.597 NA 20 56 0 0 0.002299 0 0 GLS2 27165 broad.mit.edu 37 12 56872853 56872853 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:56872853C>T uc001slj.2 - 4 796 c.517G>A c.(517-519)GAG>AAG p.E173K GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Intron|GLS2_uc009zot.2_Intron NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 173 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAGTGAGCTCTTTGACATCC 0.428 NA 50 97 0 0 0.00361 0 0 NAB2 4665 broad.mit.edu 37 12 57485106 57485106 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:57485106C>T uc001smz.2 + 2 660 c.282C>T c.(280-282)CTC>CTT p.L94L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 94 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CCAAGCCCCTCCATGTCCGGC 0.622 NA 56 95 0 0 0.00361 0 0 LRP1 4035 broad.mit.edu 37 12 57559724 57559724 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:57559724C>G uc001snd.2 + 16 3133 c.2667C>G c.(2665-2667)CTC>CTG p.L889L LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 889 LDL-receptor class A 3.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCCCAGCCCTCTGCCGTGAGT 0.647 NA 23 42 0 0 0.007291 0 0 LRP1 4035 broad.mit.edu 37 12 57572344 57572344 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:57572344C>T uc001snd.2 + 27 5030 c.4564C>T c.(4564-4566)CCC>TCC p.P1522S NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1522 LDL-receptor class B 12.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAACACCCAGCCCTTTGACCT 0.622 NA 55 128 0 0 0.00361 0 0 GRIP1 23426 broad.mit.edu 37 12 66765480 66765480 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:66765480C>T uc001stk.2 - 22 3091 c.2850G>A c.(2848-2850)CTG>CTA p.L950L GRIP1_uc010sta.1_Silent_p.L894L|GRIP1_uc001stj.2_Silent_p.L717L|GRIP1_uc001stl.1_Silent_p.L827L|GRIP1_uc001stm.2_Silent_p.L935L NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1002 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TGACCTTGTGCAGCTCCACAG 0.468 NA 30 80 0 0 0.008361 0 0 RAB21 23011 broad.mit.edu 37 12 72167776 72167776 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:72167776G>T uc001swt.2 + 4 617 c.365G>T c.(364-366)GGA>GTA p.G122V NM_014999 NP_055814 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 122 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding 0 AAAATGTTGGGAAATGAAATC 0.289 NA 18 56 2.39556e-15 2.84811e-15 0.00278 1 0 E2F7 144455 broad.mit.edu 37 12 77426850 77426850 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:77426850C>T uc001sym.3 - 9 1598 c.1362G>A c.(1360-1362)CAG>CAA p.Q454Q E2F7_uc009zse.2_5'Flank NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 454 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CTTCTATTTTCTGTCTATAGA 0.373 NA 19 29 0 0 0.003954 0 0 GALNT4 8693 broad.mit.edu 37 12 89918168 89918168 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:89918168C>T uc001tbd.2 - 1 368 c.159G>A c.(157-159)CAG>CAA p.Q53Q POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Silent_p.Q50Q|GALNT4_uc010suo.1_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 53 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 CCGTATTTTTCTGGAGGTCTG 0.562 NA OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 12 0 0 0.008291 0 0 PLXNC1 10154 broad.mit.edu 37 12 94642146 94642146 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:94642146C>G uc001tdc.2 + 14 2985 c.2736C>G c.(2734-2736)ATC>ATG p.I912M NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 912 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TTAAAGGCATCAAGACTGCAA 0.393 NA 33 45 0 0 0.007835 0 0 PAH 5053 broad.mit.edu 37 12 103238149 103238149 + Missense_Mutation SNP C C T rs62508679 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:103238149C>T uc001tjq.1 - 11 1502 c.1030G>A c.(1030-1032)GGT>AGT p.G344S NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 344 G -> V (in PKU).|G -> R (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AGCCCAGCACCATATGCCTTT 0.423 NA 10 12 0 0 0.004007 0 0 STAB2 55576 broad.mit.edu 37 12 104056698 104056698 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:104056698G>A uc001tjw.2 + 18 2130 c.1944G>A c.(1942-1944)CTG>CTA p.L648L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 648 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TTTACACACTGACAGGAGTTC 0.413 NA 56 46 0 0 0.00361 0 0 RPH3A 22895 broad.mit.edu 37 12 113316981 113316981 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:113316981A>G uc010syl.1 + 14 1591 c.1229A>G c.(1228-1230)CAG>CGG p.Q410R RPH3A_uc001ttz.2_Missense_Mutation_p.Q410R|RPH3A_uc001tty.2_Missense_Mutation_p.Q406R|RPH3A_uc009zwe.1_Missense_Mutation_p.Q406R|RPH3A_uc010sym.1_Missense_Mutation_p.Q361R|RPH3A_uc001tua.2_Missense_Mutation_p.Q170R NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 410 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) AGCTCCCTGCAGTGCACCATC 0.547 NA 56 55 0 0 0.00361 0 0 MLXIP 22877 broad.mit.edu 37 12 122623364 122623364 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:122623364C>T uc001ubq.2 + 15 2387 c.2387C>T c.(2386-2388)TCC>TTC p.S796F MLXIP_uc001ubt.2_Missense_Mutation_p.S403F NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 796 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CATTTCAGCTCCTGCCAGCAG 0.602 Esophageal Squamous(105;787 1493 16200 18566 52466) NA 10 9 0 0 0.000978 0 0 TCTN2 79867 broad.mit.edu 37 12 124192153 124192153 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:124192153G>T uc001ufp.2 + 18 2115 c.1987G>T c.(1987-1989)GAG>TAG p.E663* TCTN2_uc009zya.2_Nonsense_Mutation_p.E662* NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 663 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TTTTTCAGGGGAGCTGCATTC 0.358 NA 18 22 3.99206e-14 4.6733e-14 0.007413 1 0 DNAH10 196385 broad.mit.edu 37 12 124272447 124272447 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr12:124272447G>A uc001uft.3 + 10 1360 c.1335G>A c.(1333-1335)GAG>GAA p.E445E DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 445 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CCAAGATAGAGGCTTCGGGGA 0.562 NA 4 9 0 0 0.000602 0 0 CENPJ 55835 broad.mit.edu 37 13 25480420 25480420 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:25480420C>G uc001upt.3 - 7 2009 c.1756G>C c.(1756-1758)GAT>CAT p.D586H CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 586 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GATATTTCATCAGCAGCTTGT 0.358 NA 10 9 0 0 0.008291 0 0 NBEA 26960 broad.mit.edu 37 13 35926326 35926326 + Missense_Mutation SNP A A C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:35926326A>C uc001uvb.2 + 38 6251 c.6045A>C c.(6043-6045)AGA>AGC p.R2015S NBEA_uc010abi.2_Missense_Mutation_p.R671S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2015 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTGATAGAAGAGAGGAAGAAA 0.338 NA 7 7 0 0 0.006214 0 0 DIS3 22894 broad.mit.edu 37 13 73345239 73345239 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:73345239G>A uc001vix.3 - 12 2024 c.1650C>T c.(1648-1650)TCC>TCT p.S550S DIS3_uc001viy.3_Silent_p.S520S|DIS3_uc001viz.2_RNA NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control isoform a 550 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1) 1 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CACATTTTAAGGAACACAAGT 0.343 NA Multiple Myeloma(4;0.011) 17 26 0 0 0.001882 0 0 EDNRB 1910 broad.mit.edu 37 13 78477365 78477365 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:78477365T>C uc001vko.2 - 3 985 c.727A>G c.(727-729)ATT>GTT p.I243V EDNRB_uc001vkq.1_Missense_Mutation_p.I243V|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.I243V|EDNRB_uc001vkp.1_Missense_Mutation_p.I326V NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 243 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TCCATCGTAATTATATCAAAA 0.398 NA 51 100 0 0 0.00361 0 0 RNF219 79596 broad.mit.edu 37 13 79233246 79233246 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:79233246T>C uc001vkw.1 - 1 69 c.10A>G c.(10-12)ACC>GCC p.T4A RNF219_uc010afb.1_Intron|RNF219_uc010afc.2_Missense_Mutation_p.T4A NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 4 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TTCTGCACGGTCTGAGCCATG 0.597 NA 11 18 0 0 0.001855 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453917 84453917 + Nonsense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:84453917C>A uc001vlk.2 - 1 2612 c.1726G>T c.(1726-1728)GAG>TAG p.E576* NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 576 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GGGCAGATCTCGTCATTGGAG 0.542 NA 10 34 6.40141e-05 6.73523e-05 0.000978 1 0 NALCN 259232 broad.mit.edu 37 13 101714406 101714406 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:101714406C>G uc001vox.1 - 41 4858 c.4669G>C c.(4669-4671)GAG>CAG p.E1557Q NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1557 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCAGCTGCTCCCTCGCCAGG 0.572 NA 28 57 0 0 0.00632 0 0 COL4A2 1284 broad.mit.edu 37 13 111160490 111160490 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:111160490G>T uc001vqx.2 + 47 5092 c.4803G>T c.(4801-4803)GCG>GCT p.A1601A NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1601 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCGCCATCGCGGTCCACAGTC 0.602 NA 31 64 5.77227e-19 7.1219e-19 0.008361 1 0 NDRG2 57447 broad.mit.edu 37 14 21490336 21490336 + Missense_Mutation SNP A A C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:21490336A>C uc001vyy.2 - 6 379 c.229T>G c.(229-231)TCT>GCT p.S77A NDRG2_uc010tll.1_Missense_Mutation_p.S73A|NDRG2_uc001vyt.2_5'UTR|NDRG2_uc001vyu.2_Missense_Mutation_p.S63A|NDRG2_uc001vyv.2_Missense_Mutation_p.S63A|NDRG2_uc001vyw.2_Missense_Mutation_p.S63A|NDRG2_uc001vzb.2_Intron|NDRG2_uc001vyx.2_Missense_Mutation_p.S77A|NDRG2_uc001vza.2_Missense_Mutation_p.S63A|NDRG2_uc001vyz.2_Missense_Mutation_p.S63A|NDRG2_uc001vzc.2_Missense_Mutation_p.S63A|NDRG2_uc001vze.2_Missense_Mutation_p.S77A|NDRG2_uc001vzd.2_Missense_Mutation_p.S77A|NDRG2_uc001vzg.2_Missense_Mutation_p.S63A|NDRG2_uc001vzf.2_Missense_Mutation_p.S63A|NDRG2_uc010aig.2_Missense_Mutation_p.S77A NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN N-myc downstream-regulated gene 2 isoform a 77 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm ovary(1)|breast(1) 2 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) TGGAAGCAAGATTTATCTAAA 0.502 NA 23 42 0 0 0.005443 0 0 TPPP2 122664 broad.mit.edu 37 14 21499323 21499323 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:21499323C>T uc001vzh.2 + 3 514 c.326C>T c.(325-327)ACT>ATT p.T109I NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family 109 cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ACTGGCGCTACTGTGAGTGAC 0.522 NA 26 56 0 0 0.002445 0 0 Unknown 0 broad.mit.edu 37 14 22337432 22337432 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:22337432G>T uc010tmf.1 + 2 305 c.226G>T c.(226-228)GAA>TAA p.E76* uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Nonsense_Mutation_p.E75*|uc001wby.2_Intron SubName: Full=Putative uncharacterized protein ENSP00000374943; NA AAATGTGGGCGAAAAGAAAGA 0.428 NA 54 106 7.41606e-26 9.42114e-26 0.00361 1 0 LRP10 26020 broad.mit.edu 37 14 23341964 23341964 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:23341964C>G uc001whd.2 + 2 605 c.52C>G c.(52-54)CCA>GCA p.P18A LRP10_uc001whe.2_5'Flank NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 18 Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TCTGGCCCATCCAGACCGGAT 0.547 NA OREG0022588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 34 0 0 0.005443 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24517419 24517419 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:24517419G>C uc010alc.2 + 6 472 c.472G>C c.(472-474)GAA>CAA p.E158Q DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 158 binding|oxidoreductase activity 0 AGTGGTGCCAGAAATGGAGAA 0.527 NA 8 28 0 0 0.008291 0 0 RNF31 55072 broad.mit.edu 37 14 24617533 24617533 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:24617533G>A uc001wmn.1 + 3 655 c.406G>A c.(406-408)GAA>AAA p.E136K PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 136 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) GAGCTTCCCCGAAGGGCAGGA 0.567 NA 13 37 0 0 0.001855 0 0 IPO4 79711 broad.mit.edu 37 14 24656911 24656911 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:24656911G>A uc001wmv.1 - 5 501 c.370C>T c.(370-372)CAG>TAG p.Q124* IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Nonsense_Mutation_p.Q124* NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 124 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) GTACTGTGCTGAAGCAGCTGC 0.582 NA 31 77 0 0 0.00623 0 0 AKAP6 9472 broad.mit.edu 37 14 33015051 33015051 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:33015051G>T uc001wrq.2 + 4 1362 c.1192G>T c.(1192-1194)GAG>TAG p.E398* AKAP6_uc010aml.2_Nonsense_Mutation_p.E395* NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 398 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTTTCTTAAAGAGGAAACTTT 0.428 Melanoma(49;821 1200 7288 13647 42351) NA 23 64 5.35356e-11 6.10057e-11 0.00278 1 0 AKAP6 9472 broad.mit.edu 37 14 33290675 33290675 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:33290675G>A uc001wrq.2 + 13 3826 c.3656G>A c.(3655-3657)TGG>TAG p.W1219* NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1219 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GCCCTGGAATGGGATGAAATG 0.403 Melanoma(49;821 1200 7288 13647 42351) NA 25 63 0 0 0.005443 0 0 NPAS3 64067 broad.mit.edu 37 14 34247779 34247779 + Splice_Site SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:34247779G>T uc001wru.2 + 9 1217 c.1153_splice c.e9+1 p.L385_splice NPAS3_uc001wrs.2_Splice_Site_p.L372_splice|NPAS3_uc001wrt.2_Splice_Site_p.L353_splice|NPAS3_uc001wrv.2_Splice_Site_p.L355_splice NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CACTTGGACTGTAAGTACCTC 0.488 NA 20 46 2.39556e-15 2.84811e-15 0.00278 1 0 BAZ1A 11177 broad.mit.edu 37 14 35240752 35240752 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:35240752T>A uc001wsk.2 - 21 3834 c.3266A>T c.(3265-3267)CAG>CTG p.Q1089L BAZ1A_uc001wsl.2_Missense_Mutation_p.Q1057L NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1089 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTCAATGCCCTGCTCTATTTG 0.373 NA 39 111 0 0 0.00361 0 0 MDGA2 161357 broad.mit.edu 37 14 47351289 47351289 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:47351289A>T uc001wwj.3 - 11 2363 c.2167T>A c.(2167-2169)TTT>ATT p.F723I MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Missense_Mutation_p.F494I|MDGA2_uc010ani.2_Missense_Mutation_p.F283I NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 723 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCTTCACCAAATTTGGTGAGA 0.289 NA 6 13 0 0 0.004482 0 0 ERO1L 30001 broad.mit.edu 37 14 53138391 53138391 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:53138391C>A uc001wzv.2 - 6 691 c.465G>T c.(463-465)TGG>TGT p.W155C ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN ERO1-like precursor 155 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor 0 Breast(41;0.226) CATGCTTGGTCCACTGAAGAA 0.274 NA 10 37 3.27435e-08 3.60547e-08 0.00245 1 0 C14orf101 54916 broad.mit.edu 37 14 57082682 57082682 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:57082682G>C uc001xcm.2 + 8 1000 c.878G>C c.(877-879)AGG>ACG p.R293T C14orf101_uc001xcj.2_RNA|C14orf101_uc010aot.1_Missense_Mutation_p.R293T|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR|C14orf101_uc001xco.2_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 293 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) ACAAATATGAGGACCGAACTC 0.313 NA 42 79 0 0 0.00361 0 0 KIAA0586 9786 broad.mit.edu 37 14 58954712 58954712 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:58954712A>G uc001xdv.3 + 22 3457 c.3184A>G c.(3184-3186)ATT>GTT p.I1062V KIAA0586_uc010trr.1_Missense_Mutation_p.I1179V|KIAA0586_uc001xdt.3_Missense_Mutation_p.I1094V|KIAA0586_uc001xdu.3_Missense_Mutation_p.I1123V|KIAA0586_uc010trs.1_Missense_Mutation_p.I1053V|KIAA0586_uc010trt.1_Missense_Mutation_p.I998V|KIAA0586_uc010tru.1_Missense_Mutation_p.I998V NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1062 ovary(1) 1 AGATATTTCCATTGATAAATT 0.473 NA 6 21 0 0 0.001984 0 0 RHOJ 57381 broad.mit.edu 37 14 63735881 63735882 + Missense_Mutation DNP GG GG TT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:63735881_63735882GG>TT uc001xgb.1 + 2 675_676 c.232_233GG>TT c.(232-234)GGA>TTA p.G78L NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 78 GTP (By similarity). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) TGACACCGCGGGACAGGTACAT 0.391 NA 18 62 0 0 0.004672 0 0 SYNE2 23224 broad.mit.edu 37 14 64447432 64447432 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:64447432G>C uc001xgm.2 + 15 1860 c.1630G>C c.(1630-1632)GAA>CAA p.E544Q SYNE2_uc001xgl.2_Missense_Mutation_p.E544Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 544 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAATGTGGAGAAATTTATAA 0.294 NA 5 16 0 0 0.001168 0 0 SPTB 6710 broad.mit.edu 37 14 65240051 65240051 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:65240051T>A uc001xht.2 - 24 5119 c.5065A>T c.(5065-5067)ATG>TTG p.M1689L SPTB_uc001xhr.2_Missense_Mutation_p.M1689L|SPTB_uc001xhs.2_Missense_Mutation_p.M1689L|SPTB_uc001xhu.2_Missense_Mutation_p.M1689L|SPTB_uc010aqi.2_Missense_Mutation_p.M350L NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1689 Spectrin 14. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGGTGGTACATGTTCTCCAGC 0.562 NA 39 82 0 0 0.00874 0 0 SPTB 6710 broad.mit.edu 37 14 65253478 65253478 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:65253478C>T uc001xht.2 - 15 3259 c.3205G>A c.(3205-3207)GAT>AAT p.D1069N SPTB_uc001xhr.2_Missense_Mutation_p.D1069N|SPTB_uc001xhs.2_Missense_Mutation_p.D1069N|SPTB_uc001xhu.2_Missense_Mutation_p.D1069N NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1069 Spectrin 8. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCATCCAGATCCTGCAGGAAG 0.622 NA 25 44 0 0 0.008361 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68220796 68220796 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:68220796C>T uc001xka.2 - 38 7259 c.7120G>A c.(7120-7122)GCC>ACC p.A2374T ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.A220T NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2374 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) ACCTTGCAGGCAACATCCATT 0.373 NA 49 160 0 0 0.00361 0 0 KIAA0247 9766 broad.mit.edu 37 14 70170113 70170113 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:70170113G>T uc001xlk.2 + 3 439 c.123G>T c.(121-123)GTG>GTT p.V41V KIAA0247_uc010aqz.2_Silent_p.V16V NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 41 Sushi.|Extracellular (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) TCTTTGCAGTGTGCCCCCTAC 0.592 NA 37 114 5.73435e-26 7.29826e-26 0.00361 1 0 KIAA0247 9766 broad.mit.edu 37 14 70170115 70170115 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:70170115G>T uc001xlk.2 + 3 441 c.125G>T c.(124-126)TGC>TTC p.C42F KIAA0247_uc010aqz.2_Missense_Mutation_p.C17F NM_014734 NP_055549 Q92537 K0247_HUMAN hypothetical protein LOC9766 precursor 42 Sushi.|Extracellular (Potential). integral to membrane ovary(3) 3 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) TTTGCAGTGTGCCCCCTACCA 0.587 NA 37 110 2.9001e-28 3.7117e-28 0.00361 1 0 KIAA0317 9870 broad.mit.edu 37 14 75131573 75131573 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:75131573A>G uc001xqb.2 - 18 2664 c.2159T>C c.(2158-2160)GTA>GCA p.V720A KIAA0317_uc010tut.1_Missense_Mutation_p.V559A NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 720 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) ACCAACAACTACTGCATGGGC 0.418 NA 21 47 0 0 0.003954 0 0 C14orf118 55668 broad.mit.edu 37 14 76638254 76638254 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:76638254C>T uc001xsh.2 + 4 882 c.796C>T c.(796-798)CTG>TTG p.L266L C14orf118_uc001xsi.2_Silent_p.L266L|C14orf118_uc001xsj.1_Silent_p.L266L|C14orf118_uc001xsk.1_Silent_p.L266L|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 266 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) CCCTAATCTTCTGCCCAAGTG 0.413 NA 50 104 0 0 0.00361 0 0 C14orf145 145508 broad.mit.edu 37 14 81209499 81209499 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:81209499T>A uc001xux.2 - 18 2897 c.2726A>T c.(2725-2727)AAG>ATG p.K909M C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 909 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) CTCAGATTCCTTGTTTTCAGT 0.433 NA 32 78 0 0 0.004878 0 0 KCNK13 56659 broad.mit.edu 37 14 90650453 90650453 + Splice_Site SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:90650453A>G uc001xye.1 + 2 777 c.335_splice c.e2-2 p.G112_splice NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TCTCTCCTGCAGGGTTTGGGA 0.458 NA 24 55 0 0 0.004656 0 0 DICER1 23405 broad.mit.edu 37 14 95562743 95562743 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:95562743G>A uc001ydw.2 - 24 4696 c.4514C>T c.(4513-4515)TCT>TTT p.S1505F DICER1_uc010avh.1_Missense_Mutation_p.S403F|DICER1_uc001ydv.2_Missense_Mutation_p.S1495F|DICER1_uc001ydx.2_Missense_Mutation_p.S1505F|DICER1_uc001ydy.1_Missense_Mutation_p.S357F NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1505 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGCATCCCAAGAGCTGTAGTC 0.408 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 20 44 0 0 0.008871 0 0 TCL1A 8115 broad.mit.edu 37 14 96180344 96180345 + Missense_Mutation DNP GG GG TT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:96180344_96180345GG>TT uc001yfc.3 - 1 189_190 c.59_60CC>AA c.(58-60)GCC>GAA p.A20E uc001yfd.1_5'Flank|TCL1A_uc001yfb.3_Missense_Mutation_p.A20E NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 20 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) ACTTCTCCCAGGCCCACAGGCG 0.653 Ovarian(96;1068 2019 35393 39316) NA T TRA@ T-CLL 46 89 0 0 0.004672 0 0 OR4N4 283694 broad.mit.edu 37 15 22332432 22332432 + Translation_Start_Site SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:22332432C>T uc001yuc.1 + 3 239 c.-742C>T c.(-744--740)AACGT>AATGT LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AAGATTCTAACGTGACAGAAC 0.328 NA 4 39 0 0 0.009096 0 0 HERC2 8924 broad.mit.edu 37 15 28369251 28369251 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:28369251C>A uc001zbj.2 - 85 13226 c.13120G>T c.(13120-13122)GAC>TAC p.D4374Y NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4374 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCAGTTTCGTCGAGCGAGCCT 0.562 NA 31 68 1.99505e-19 2.47936e-19 0.002445 1 0 RYR3 6263 broad.mit.edu 37 15 33878235 33878235 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:33878235G>T uc001zhi.2 + 16 1776 c.1706G>T c.(1705-1707)AGC>ATC p.S569I RYR3_uc010bar.2_Missense_Mutation_p.S569I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 569 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTAACTGAAAGCCCAGAAGCC 0.448 NA 28 45 3.93418e-24 4.96112e-24 0.004289 1 0 MFAP1 4236 broad.mit.edu 37 15 44106739 44106739 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:44106739C>T uc001zth.1 - 4 761 c.577G>A c.(577-579)GAT>AAT p.D193N NM_005926 NP_005917 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 193 microfibril skin(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCCATCTCATCTTCACTGTCT 0.448 NA 71 128 0 0 0.00361 0 0 PRTG 283659 broad.mit.edu 37 15 55964742 55964742 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:55964742T>A uc002adg.2 - 11 1990 c.1942A>T c.(1942-1944)ATT>TTT p.I648F PRTG_uc002adh.2_Missense_Mutation_p.I150F NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 648 Fibronectin type-III 3. 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) TAGCCCTGAATAGCAGCTGTG 0.488 NA 17 41 0 0 0.008871 0 0 SLTM 79811 broad.mit.edu 37 15 59193471 59193471 + Nonsense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:59193471C>A uc002afp.2 - 6 665 c.577G>T c.(577-579)GAA>TAA p.E193* SLTM_uc002afo.2_Nonsense_Mutation_p.E193*|SLTM_uc002afq.2_5'UTR|SLTM_uc010bgd.2_5'UTR|SLTM_uc002afr.1_Nonsense_Mutation_p.E111* NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 193 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTCTCATTTTCTTCTTCCTCA 0.254 NA 21 38 7.68411e-24 9.6544e-24 0.008361 1 0 PIF1 80119 broad.mit.edu 37 15 65108962 65108962 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:65108962G>T uc002ant.2 - 12 1743 c.1677C>A c.(1675-1677)GGC>GGA p.G559G PIF1_uc002anr.2_Silent_p.G107G|PIF1_uc002ans.2_Silent_p.G250G|PIF1_uc010uiq.1_Silent_p.G559G NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 559 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 CCAGGGTCATGCCCTGGGGGA 0.617 NA 13 34 0.00136819 0.0014178 0.001368 1 0 PDCD7 10081 broad.mit.edu 37 15 65411716 65411716 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:65411716G>A uc002aol.2 - 4 1387 c.1332C>T c.(1330-1332)ATC>ATT p.I444I NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 444 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 CCTCTGACCTGATCTGGATGA 0.473 NA 12 24 0 0 0.00245 0 0 ADPGK 83440 broad.mit.edu 37 15 73048727 73048727 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:73048727G>A uc002avg.3 - 5 799 c.705C>T c.(703-705)CTC>CTT p.L235L ADPGK_uc002ave.3_5'UTR|ADPGK_uc010ukw.1_Silent_p.L177L|ADPGK_uc002avf.3_Silent_p.L235L|ADPGK_uc002avi.3_Silent_p.L113L|ADPGK_uc002avh.3_5'UTR NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 235 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 CCCCGTTGGAGAGGTCGTGAG 0.532 NA 40 70 0 0 0.00361 0 0 C15orf60 283677 broad.mit.edu 37 15 73852120 73852120 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:73852120C>T uc002avq.2 + 6 692 c.664C>T c.(664-666)CAT>TAT p.H222Y C15orf60_uc010bjb.2_Missense_Mutation_p.H194Y NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 222 pancreas(1) 1 GGAGCTGCCCCATGTCTATGA 0.468 NA 27 61 0 0 0.005443 0 0 C15orf39 56905 broad.mit.edu 37 15 75500696 75500696 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:75500696A>G uc002azp.3 + 2 2627 c.2307A>G c.(2305-2307)GGA>GGG p.G769G C15orf39_uc002azq.3_Silent_p.G769G|C15orf39_uc002azr.3_Silent_p.G167G NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 769 0 ATTTTACAGGACTACATGCGT 0.393 NA 2 7 0 0 0.004672 0 0 AP3B2 8120 broad.mit.edu 37 15 83349890 83349890 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:83349890C>G uc010uoh.1 - 6 739 c.562G>C c.(562-564)GAG>CAG p.E188Q AP3B2_uc010uoi.1_Missense_Mutation_p.E188Q|AP3B2_uc010uoj.1_Missense_Mutation_p.E156Q|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 188 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) AGAAGCTTCTCAATGACTTCT 0.582 NA 7 17 0 0 0.00308 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84527563 84527563 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:84527563G>A uc002bjz.3 + 8 997 c.773G>A c.(772-774)AGA>AAA p.R258K ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R258K|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R258K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R258K NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 258 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) CGAAGTGTGAGAATTACAGTG 0.348 NA 33 71 0 0 0.006999 0 0 AEN 64782 broad.mit.edu 37 15 89169692 89169692 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:89169692G>C uc002bmt.2 + 2 403 c.252G>C c.(250-252)CTG>CTC p.L84L AEN_uc010bnl.2_Silent_p.L84L|AEN_uc010bnm.1_Silent_p.L84L NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 84 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 AGCAGTGTCTGAGGGCTGGAT 0.637 NA 6 26 0 0 0.001168 0 0 MCTP2 55784 broad.mit.edu 37 15 95001379 95001379 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:95001379A>G uc002btj.2 + 19 2329 c.2264A>G c.(2263-2265)AAG>AGG p.K755R MCTP2_uc010boj.2_Missense_Mutation_p.K484R|MCTP2_uc010bok.2_Missense_Mutation_p.K700R|MCTP2_uc002btl.2_Missense_Mutation_p.K343R NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 755 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) TCTGAGAAAAAGGGGTTGATT 0.294 NA 3 45 0 0 0.004672 0 0 PDIA2 64714 broad.mit.edu 37 16 335387 335387 + Silent SNP C C A rs139827174 by1000genomes TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:335387C>A uc002cgn.1 + 11 1979 c.871C>A c.(871-873)CGG>AGG p.R291R PDIA2_uc010bqt.1_Silent_p.R136R|PDIA2_uc002cgo.1_Silent_p.R291R NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 291 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGCTGCGCACCGGGAGCTCCT 0.667 NA 22 27 2.89027e-11 3.30454e-11 0.002299 1 0 SSTR5 6755 broad.mit.edu 37 16 1129519 1129519 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:1129519C>T uc002ckq.2 + 1 739 c.651C>T c.(649-651)ATC>ATT p.I217I LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 217 Helical; Name=5; (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) TGCTGGTCATCTGCCTGTGCT 0.697 NA 13 45 0 0 0.00245 0 0 PTX4 390667 broad.mit.edu 37 16 1536191 1536191 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:1536191G>A uc010uvf.1 - 3 1171 c.1171C>T c.(1171-1173)CCC>TCC p.P391S NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 396 Pentaxin. extracellular region metal ion binding 0 CCTCCGGGGGGGATCTCATAG 0.657 NA 14 57 0 0 0.004007 0 0 KCTD5 54442 broad.mit.edu 37 16 2752431 2752431 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:2752431G>T uc002crd.2 + 5 682 c.627G>T c.(625-627)CTG>CTT p.L209L NM_018992 NP_061865 Q9NXV2 KCTD5_HUMAN potassium channel tetramerisation domain 209 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity 0 CCAAGGAGCTGCACAACACCC 0.612 Ovarian(56;981 1456 4301 50892) NA 23 90 4.87955e-14 5.69281e-14 0.005443 1 0 C16orf90 646174 broad.mit.edu 37 16 3544590 3544590 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:3544590G>T uc002cvi.2 - 2 334 c.334C>A c.(334-336)CCA>ACA p.P112T NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 102 0 CTGTTACGTGGGCCCAGAGTC 0.672 NA 48 49 8.52622e-23 1.06733e-22 0.00361 1 0 C16orf68 79091 broad.mit.edu 37 16 8722634 8722634 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:8722634G>A uc002cyz.2 + 3 457 c.181G>A c.(181-183)GAT>AAT p.D61N C16orf68_uc002cza.2_Missense_Mutation_p.D61N NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 61 methyltransferase activity 0 CTCTTGGACAGATTCAGGAGC 0.488 NA 21 59 0 0 0.00278 0 0 ERCC4 2072 broad.mit.edu 37 16 14026137 14026137 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:14026137G>T uc002dce.2 + 6 1106 c.1097G>T c.(1096-1098)GGG>GTG p.G366V ERCC4_uc010bva.2_Missense_Mutation_p.G366V|ERCC4_uc010uyz.1_5'UTR NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 366 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 ATTAAAGAAGGGGAAGGTATC 0.323 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 33 37 3.33393e-15 3.95005e-15 0.004878 1 0 NOMO2 283820 broad.mit.edu 37 16 18544400 18544400 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:18544400G>C uc002dfe.2 - 12 1394 c.1322C>G c.(1321-1323)TCT>TGT p.S441C NOMO2_uc002dff.2_Missense_Mutation_p.S441C|NOMO2_uc010bvx.2_Missense_Mutation_p.S274C NM_001004060 NP_001004060 Q5JPE7 NOMO2_HUMAN nodal modulator 2 isoform 1 441 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding skin(1) 1 GGTGACCAAAGACTTGTCCTT 0.413 NA 33 114 0 0 0.003214 0 0 SMG1 23049 broad.mit.edu 37 16 18826800 18826800 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:18826800G>T uc002dfm.2 - 59 10839 c.10476C>A c.(10474-10476)ATC>ATA p.I3492I SMG1_uc010bwb.2_Silent_p.I3352I|SMG1_uc010bwa.2_Silent_p.I2223I NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3492 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 AGGTGGGAGTGATTTCCTGGA 0.373 NA 6 110 3.59834e-05 3.79763e-05 0.001168 1 0 GPRC5B 51704 broad.mit.edu 37 16 19883904 19883904 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:19883904C>G uc002dgt.2 - 2 372 c.264G>C c.(262-264)GAG>GAC p.E88D GPRC5B_uc010vav.1_Missense_Mutation_p.E114D NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 88 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 GGCTCTTCTTCTCCTTCTCCT 0.622 NA 10 55 0 0 0.001368 0 0 ACSM5 54988 broad.mit.edu 37 16 20435296 20435296 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:20435296G>T uc002dhe.2 + 6 973 c.826G>T c.(826-828)GTG>TTG p.V276L NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 276 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CACTGGCTGGGTGAAGGCAGC 0.502 NA 88 91 3.01496e-42 3.96979e-42 0.00361 1 0 DNAH3 55567 broad.mit.edu 37 16 21139082 21139082 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:21139082C>A uc010vbe.1 - 8 1134 c.1134G>T c.(1132-1134)TTG>TTT p.L378F DNAH3_uc002die.2_Missense_Mutation_p.L349F NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 378 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GCTGCAGAGGCAATTTTCCCG 0.473 NA 92 107 3.01496e-42 3.96979e-42 0.00361 1 0 CACNG3 10368 broad.mit.edu 37 16 24373034 24373034 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:24373034C>A uc002dmf.2 + 4 1998 c.798C>A c.(796-798)ACC>ACA p.T266T NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 266 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CGATGTTCACCCTCTCCCGGG 0.577 NA 80 99 1.22797e-34 1.61068e-34 0.00361 1 0 LCMT1 51451 broad.mit.edu 37 16 25175941 25175941 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:25175941G>C uc002dnx.1 + 7 750 c.592G>C c.(592-594)GAA>CAA p.E198Q LCMT1_uc002dny.1_Missense_Mutation_p.E143Q|LCMT1_uc002dnz.1_Missense_Mutation_p.E98Q|LCMT1_uc002doa.1_Missense_Mutation_p.E43Q NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 198 S-adenosyl-L-methionine; via carbonyl oxygen. protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) CCTGATAGCTGAATGTGTGCT 0.423 Colon(200;565 2072 24396 47922 50898) NA 43 44 0 0 0.002522 0 0 KIAA0556 23247 broad.mit.edu 37 16 27765513 27765513 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:27765513C>T uc002dow.2 + 18 3596 c.3572C>T c.(3571-3573)CCA>CTA p.P1191L NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 1191 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CTAGAGCTCCCATCCAGTTCC 0.572 NA 76 78 0 0 0.00361 0 0 ZNF768 79724 broad.mit.edu 37 16 30537139 30537139 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:30537139C>A uc002dyk.3 - 2 498 c.322G>T c.(322-324)GAT>TAT p.D108Y ZNF768_uc010vex.1_Missense_Mutation_p.D77Y|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.D77Y NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 108 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 CTCTGAGAATCTGATTCAGGG 0.597 NA 19 67 6.21321e-17 7.50398e-17 0.00278 1 0 ITGAM 3684 broad.mit.edu 37 16 31340616 31340616 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:31340616C>T uc002ebq.2 + 24 2958 c.2860C>T c.(2860-2862)CAA>TAA p.Q954* ITGAM_uc002ebr.2_Nonsense_Mutation_p.Q955*|ITGAM_uc010can.2_Nonsense_Mutation_p.Q360* NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 954 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CATGCAGCATCAATATCAGGT 0.517 NA 20 13 0 0 0.003954 0 0 SALL1 6299 broad.mit.edu 37 16 51175993 51175993 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:51175993C>A uc010vgs.1 - 2 171 c.140G>T c.(139-141)CGG>CTG p.R47L SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 47 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGCACAGCACCGGCCACAGAC 0.443 GBM(103;1352 1446 1855 4775 8890) NA 55 53 8.83742e-36 1.16139e-35 0.00361 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77389862 77389862 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:77389862G>A uc002ffc.3 - 9 1854 c.1435C>T c.(1435-1437)CGC>TGC p.R479C ADAMTS18_uc010chc.1_Missense_Mutation_p.R67C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175C|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 479 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AGATACTGGCGGCTGCAGGAA 0.488 NA 29 54 0 0 0.007291 0 0 BCMO1 53630 broad.mit.edu 37 16 81272546 81272546 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:81272546A>G uc002fgn.1 + 1 251 c.33A>G c.(31-33)GAA>GAG p.E11E BCMO1_uc002fgm.1_Silent_p.E11E|BCMO1_uc010vnp.1_5'UTR NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 11 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 ATAGGAAAGAACAGCTGGAGC 0.398 NA 22 56 0 0 0.002096 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351075 89351075 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:89351075C>T uc002fmx.1 - 9 2336 c.1875G>A c.(1873-1875)GAG>GAA p.E625E ANKRD11_uc002fmy.1_Silent_p.E625E|ANKRD11_uc002fnc.1_Silent_p.E625E|ANKRD11_uc002fnb.1_Silent_p.E582E NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 625 Lys-rich. 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) CAACTTTCCCCTCCTTGTCCA 0.498 NA 27 71 0 0 0.005443 0 0 PRDM7 11105 broad.mit.edu 37 16 90126912 90126912 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr16:90126912G>T uc010cje.2 - 9 1090 c.1070C>A c.(1069-1071)TCT>TAT p.S357Y PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.S151Y NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 357 SET. S -> Y (in Ref. 2; AAF78084). chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCAGACCAGACCAG 0.532 NA 4 93 0.00909568 0.00929901 0.009096 1 0 TRPV1 7442 broad.mit.edu 37 17 3477008 3477008 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:3477008G>A uc010vrr.1 - 12 2549 c.2022C>T c.(2020-2022)CTC>CTT p.L674L TRPV1_uc010vro.1_Silent_p.L685L|TRPV1_uc010vrp.1_Silent_p.L614L|TRPV1_uc010vrq.1_Silent_p.L672L|TRPV1_uc010vrs.1_Silent_p.L674L|TRPV1_uc010vrt.1_Silent_p.L674L|TRPV1_uc010vru.1_Silent_p.L674L NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 674 Helical; (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) TGTTGAGCAGGAGGATGTAGG 0.532 Melanoma(38;962 1762 15789) NA 21 21 0 0 0.00278 0 0 FBXO39 162517 broad.mit.edu 37 17 6683381 6683381 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:6683381G>T uc010vtg.1 + 2 314 c.194G>T c.(193-195)GGG>GTG p.G65V NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 65 ovary(1)|skin(1) 2 ACCTTCAGCGGGAGACCTTCC 0.498 NA 42 35 1.32136e-16 1.58748e-16 0.00874 1 0 TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:7578235T>C uc002gim.2 - 6 808 c.614A>G c.(613-615)TAT>TGT p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(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) GTCATCCAAATACTCCACACG 0.542 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 26 0 0 0.003163 0 0 ALOX12B 242 broad.mit.edu 37 17 7977019 7977019 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:7977019T>C uc002gjy.1 - 13 1972 c.1711A>G c.(1711-1713)ATC>GTC p.I571V NM_001139 NP_001130 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 571 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity 0 CAGGTGTAGATGACTATAGTG 0.483 NA Multiple Myeloma(8;0.094) OREG0024152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 24 0 0 0.00333 0 0 MYH2 4620 broad.mit.edu 37 17 10428230 10428230 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:10428230G>C uc010coi.2 - 34 4943 c.4815C>G c.(4813-4815)AGC>AGG p.S1605R uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S1605R|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1605 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CATCCAGCGTGCTCTGCATGG 0.453 NA 47 47 0 0 0.00361 0 0 MYO15A 51168 broad.mit.edu 37 17 18023816 18023816 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:18023816C>T uc010vxh.1 + 2 2040 c.1702C>T c.(1702-1704)CCT>TCT p.P568S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 568 Myosin head-like. 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) CGTGCCTCGCCCTGCCACCTC 0.746 NA 7 6 0 0 0.001984 0 0 GRAP 10750 broad.mit.edu 37 17 18927649 18927649 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:18927649C>T uc002guy.2 - 4 444 c.347G>A c.(346-348)GGG>GAG p.G116E NM_006613 NP_006604 Q13588 GRAP_HUMAN GRB2-related adaptor protein 116 SH2. cell-cell signaling|Ras protein signal transduction cytoplasm SH3/SH2 adaptor activity 0 all_cancers(12;0.0183) GAAGTACTTCCCCGAGGCCTC 0.617 NA 11 18 0 0 0.000978 0 0 ALDH3A1 218 broad.mit.edu 37 17 19645475 19645475 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:19645475G>C uc010cqu.2 - 4 861 c.531C>G c.(529-531)CTC>CTG p.L177L ALDH3A1_uc010vzd.1_Silent_p.L177L|ALDH3A1_uc002gwj.2_Silent_p.L177L|ALDH3A1_uc010cqv.2_Silent_p.L177L|ALDH3A1_uc002gwk.2_Silent_p.L294L|ALDH3A1_uc002gwl.1_Silent_p.L104L NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 177 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) ACCTCTCCTTGAGCAGCTCCG 0.597 NA 31 79 0 0 0.005524 0 0 ULK2 9706 broad.mit.edu 37 17 19687055 19687055 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:19687055G>A uc002gwm.3 - 22 2924 c.2415C>T c.(2413-2415)CTC>CTT p.L805L ULK2_uc002gwn.2_Silent_p.L805L NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 805 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CAAAGGTGATGAGCCCCTCTA 0.552 NA 85 46 0 0 0.00361 0 0 AMAC1 146861 broad.mit.edu 37 17 33520613 33520613 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:33520613G>T uc002hjd.2 - 1 800 c.714C>A c.(712-714)CTC>CTA p.L238L NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 238 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GCAGCACAAAGAGGCCTGGCA 0.612 NA 26 67 2.12542e-12 2.4546e-12 0.00632 1 0 AMAC1 146861 broad.mit.edu 37 17 33521035 33521035 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:33521035G>C uc002hjd.2 - 1 378 c.292C>G c.(292-294)CCT>GCT p.P98A NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 98 DUF6 1. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CGGATGTCAGGAGTTCCCAGA 0.602 NA 64 123 0 0 0.00361 0 0 MYO19 80179 broad.mit.edu 37 17 34883390 34883390 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:34883390G>C uc010wcy.1 - 6 1284 c.292C>G c.(292-294)CAG>GAG p.Q98E MYO19_uc002hmw.2_Missense_Mutation_p.Q98E|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA|MYO19_uc010wda.1_Intron|MYO19_uc002hmx.2_Missense_Mutation_p.Q98E NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 98 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) ACCTGGGGCTGAGGCGCAGCA 0.547 NA 8 24 0 0 0.008291 0 0 PCGF2 7703 broad.mit.edu 37 17 36895085 36895085 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:36895085C>T uc002hqp.1 - 7 589 c.346G>A c.(346-348)GAG>AAG p.E116K PCGF2_uc002hqn.1_Missense_Mutation_p.E116K|PCGF2_uc002hqo.1_Missense_Mutation_p.E116K|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.E116K NM_007144 NP_009075 P35227 PCGF2_HUMAN ring finger protein 110 116 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 Breast(7;9.07e-22) TCCAAGACCTCGCCGCGGTCC 0.597 NA 33 239 0 0 0.00623 0 0 THRA 7067 broad.mit.edu 37 17 38240976 38240976 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:38240976C>G uc002htw.2 + 6 967 c.484C>G c.(484-486)CCT>GCT p.P162A THRA_uc010cwp.1_Missense_Mutation_p.P162A|THRA_uc002htv.2_Missense_Mutation_p.P162A|THRA_uc002htx.2_Missense_Mutation_p.P162A NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 162 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) AGAGCCCACTCCTGAAGAGTG 0.597 NA 53 122 0 0 0.00361 0 0 KRT25 147183 broad.mit.edu 37 17 38907553 38907553 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:38907553G>T uc002hve.2 - 4 756 c.695C>A c.(694-696)GCT>GAT p.A232D NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 232 Rod.|Linker 12. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) GTTGCCTCCAGCTGCGCACTG 0.488 NA 34 22 1.96642e-18 2.4175e-18 0.006999 1 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279911 39279911 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:39279911C>A uc002hwa.2 - 1 509 c.464G>T c.(463-465)TGC>TTC p.C155F NM_031854 NP_114060 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 155 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].|28. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ggattcacagcaagaggggca 0.199 NA 3 43 0.00909568 0.00929901 0.009096 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40844610 40844610 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:40844610G>A uc002iay.2 + 17 2840 c.2624G>A c.(2623-2625)TGG>TAG p.W875* CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 875 Laminin G-like 3.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GATGACGAGTGGCACCTGGTC 0.577 NA 100 63 0 0 0.00361 0 0 CDC27 996 broad.mit.edu 37 17 45234726 45234726 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:45234726G>C uc002ild.3 - 6 627 c.500C>G c.(499-501)ACA>AGA p.T167R CDC27_uc002ile.3_Missense_Mutation_p.T167R|CDC27_uc002ilf.3_Missense_Mutation_p.T167R|CDC27_uc010wkp.1_Missense_Mutation_p.T106R|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 167 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 GAATTTAAATGTTTGGTCAGG 0.368 NA 3 79 0 0 0.001984 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917367 48917367 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:48917367G>A uc002isv.3 + 2 1412 c.718G>A c.(718-720)GAG>AAG p.E240K WFIKKN2_uc010dbu.2_Missense_Mutation_p.E147K NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 240 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GCCCCGGCCTGAGATCACCTG 0.622 NA 32 63 0 0 0.005524 0 0 VEZF1 7716 broad.mit.edu 37 17 56060700 56060700 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:56060700G>C uc002ivf.1 - 2 231 c.88C>G c.(88-90)CTC>GTC p.L30V VEZF1_uc010dcn.1_5'UTR NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 30 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 GAGCTCAGGAGGGGCAGCAAG 0.498 NA 26 99 0 0 0.007291 0 0 EPX 8288 broad.mit.edu 37 17 56280473 56280473 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:56280473C>T uc002ivq.2 + 11 1826 c.1740C>T c.(1738-1740)CTC>CTT p.L580L NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 580 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TCTGTGGGCTCTCCCAGCCCC 0.522 NA 37 56 0 0 0.00623 0 0 MPO 4353 broad.mit.edu 37 17 56356990 56356990 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:56356990G>T uc002ivu.1 - 4 619 c.442C>A c.(442-444)CAG>AAG p.Q148K NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 148 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ACATTCAGCTGGGCGGGCGTC 0.617 NA 40 24 6.34439e-16 7.59555e-16 0.00361 1 0 DHX40 79665 broad.mit.edu 37 17 57684443 57684443 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:57684443C>A uc002ixn.1 + 18 2397 c.2250C>A c.(2248-2250)GAC>GAA p.D750E DHX40_uc010woe.1_Missense_Mutation_p.D673E|DHX40_uc010wof.1_Missense_Mutation_p.D265E NM_024612 NP_078888 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 750 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GAAATGATGACAAATCCATAT 0.403 NA 19 54 1.01871e-10 1.15893e-10 0.008871 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171623 68171623 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:68171623G>T uc010dfg.2 + 2 844 c.443G>T c.(442-444)AGA>ATA p.R148I KCNJ2_uc002jir.2_Missense_Mutation_p.R148I NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 148 Extracellular (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) TATGGTTTCAGATGTGTCACG 0.512 NA 80 36 9.07295e-45 1.20155e-44 0.00361 1 0 TTYH2 94015 broad.mit.edu 37 17 72249298 72249298 + Silent SNP G G A rs138705961 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:72249298G>A uc002jkc.2 + 12 1369 c.1338G>A c.(1336-1338)CCG>CCA p.P446P TTYH2_uc010wqw.1_Silent_p.P425P|TTYH2_uc002jkd.2_Silent_p.P125P NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 446 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 ACAGTCCCCCGAGGGGACAGC 0.587 NA 11 171 0 0 0.001368 0 0 KIAA0195 9772 broad.mit.edu 37 17 73492070 73492070 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr17:73492070A>G uc002jnz.3 + 23 3243 c.2968A>G c.(2968-2970)ATG>GTG p.M990V KIAA0195_uc010wsa.1_Missense_Mutation_p.M1000V|KIAA0195_uc010wsb.1_Missense_Mutation_p.M630V|KIAA0195_uc002job.3_5'UTR NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 990 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GATAAAGATCATGCAAGAGTA 0.602 NA 33 19 0 0 0.005524 0 0 THOC1 9984 broad.mit.edu 37 18 265526 265526 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:265526G>C uc002kkj.3 - 2 99 c.59C>G c.(58-60)TCT>TGT p.S20C THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.S20C NM_005131 NP_005122 Q96FV9 THOC1_HUMAN THO complex 1 20 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding ovary(1) 1 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CTCTCTGGTAGACTTCTAAAA 0.313 NA 2 10 0 0 0.004672 0 0 KIAA0802 23255 broad.mit.edu 37 18 8819032 8819032 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:8819032C>T uc002knr.2 + 13 3073 c.2931C>T c.(2929-2931)CCC>CCT p.P977P KIAA0802_uc002knq.2_Silent_p.P936P|KIAA0802_uc002kns.2_Intron NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1287 0 ACGTTCGCCCCTTTCCCCACC 0.527 NA 45 101 0 0 0.00361 0 0 DSG4 147409 broad.mit.edu 37 18 28993456 28993456 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:28993456G>A uc002kwq.2 + 16 3156 c.3021G>A c.(3019-3021)ATG>ATA p.M1007I DSG4_uc002kwr.2_Missense_Mutation_p.M1026I NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 1007 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAAATGATGAGTCCAGACC 0.473 NA 9 82 0 0 0.000978 0 0 PIK3C3 5289 broad.mit.edu 37 18 39637886 39637886 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:39637886G>T uc002lap.2 + 22 2361 c.2303G>T c.(2302-2304)CGG>CTG p.R768L PIK3C3_uc010xcl.1_Missense_Mutation_p.R705L|PIK3C3_uc002laq.2_Missense_Mutation_p.R253L NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 768 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 ATTTTGGGTCGGGATCCAAAG 0.428 NSCLC(37;552 1060 2683 16430 37914) NA TSP Lung(28;0.18) 17 30 6.33239e-15 7.47679e-15 0.010504 1 0 LIPG 9388 broad.mit.edu 37 18 47091756 47091756 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:47091756C>G uc002ldv.2 + 2 419 c.167C>G c.(166-168)TCC>TGC p.S56C LIPG_uc002ldu.1_Missense_Mutation_p.S56C|LIPG_uc010xdh.1_Missense_Mutation_p.S56C NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 56 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CTCCGCACCTCCAAGGACCCA 0.443 Pancreas(126;280 1778 12814 26243 34948) NA 20 29 0 0 0.001882 0 0 ZNF407 55628 broad.mit.edu 37 18 72343820 72343820 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:72343820A>G uc002llw.2 + 1 902 c.845A>G c.(844-846)CAG>CGG p.Q282R ZNF407_uc010xfc.1_Missense_Mutation_p.Q282R|ZNF407_uc010dqu.1_Missense_Mutation_p.Q282R|ZNF407_uc002llu.2_Missense_Mutation_p.Q281R NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGATTTGTACAGATCTTAACA 0.363 NA 38 36 0 0 0.003214 0 0 GALR1 2587 broad.mit.edu 37 18 74962762 74962762 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr18:74962762C>G uc002lms.3 + 1 755 c.258C>G c.(256-258)CTC>CTG p.L86L NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 86 Helical; Name=2; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CCTACCTGCTCTTCTGCATCC 0.622 NA 61 48 0 0 0.00361 0 0 LPPR3 79948 broad.mit.edu 37 19 814446 814446 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:814446G>T uc002lpx.1 - 7 883 c.819C>A c.(817-819)ATC>ATA p.I273I LPPR3_uc010dru.1_Silent_p.I185I|LPPR3_uc002lpw.1_Silent_p.I301I|LPPR3_uc002lpy.1_Silent_p.I54I NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 273 Helical; (Potential). integral to membrane phosphatidate phosphatase activity 0 GGTAGGCAGCGATGCCCGCCC 0.667 NA 9 15 2.68362e-12 3.08886e-12 0.001368 1 0 KISS1R 84634 broad.mit.edu 37 19 917741 917741 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:917741A>G uc002lqk.3 + 1 400 c.239A>G c.(238-240)TAC>TGC p.Y80C NM_032551 NP_115940 Q969F8 KISSR_HUMAN G protein-coupled receptor 54 80 Helical; Name=2; (Potential). behavior integral to membrane|plasma membrane neuropeptide receptor activity|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCAACTTCTACATCGGTGAG 0.701 NA 5 16 0 0 0.001984 0 0 HMHA1 23526 broad.mit.edu 37 19 1079762 1079762 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:1079762G>A uc002lqz.1 + 12 1666 c.1435G>A c.(1435-1437)GAG>AAG p.E479K HMHA1_uc010xgd.1_Missense_Mutation_p.E495K|HMHA1_uc010xge.1_Missense_Mutation_p.E319K|HMHA1_uc002lra.1_Missense_Mutation_p.E319K|HMHA1_uc002lrb.1_Missense_Mutation_p.E362K|HMHA1_uc002lrc.1_Missense_Mutation_p.E114K NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 479 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGAAGCAGGAGCTGGAGGA 0.687 NA 32 51 0 0 0.003755 0 0 PLIN5 440503 broad.mit.edu 37 19 4529859 4529859 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:4529859G>A uc002mas.2 - 4 329 c.276C>T c.(274-276)CTC>CTT p.L92L PLIN5_uc002mat.1_Silent_p.L92L NM_001013706 NP_001013728 Q00G26 PLIN5_HUMAN lipid storage droplet protein 5 92 lipid particle 0 CCCTGCAGGCGAGGCTGTTCA 0.373 NA 27 57 0 0 0.008361 0 0 DENND1C 79958 broad.mit.edu 37 19 6475302 6475302 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:6475302C>T uc002mfe.2 - 14 1128 c.1036G>A c.(1036-1038)GCA>ACA p.A346T DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.A302T NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 346 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 CAGACGAGTGCGTCGCGGTAC 0.627 NA 7 21 0 0 0.008291 0 0 CD70 970 broad.mit.edu 37 19 6590912 6590912 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:6590912G>C uc002mfi.2 - 1 252 c.102C>G c.(100-102)CTC>CTG p.L34L CD70_uc010xjf.1_Silent_p.L34L NM_001252 NP_001243 P32970 CD70_HUMAN tumor necrosis factor ligand superfamily, member 34 Helical; Signal-anchor for type II membrane protein; (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding 0 TGCACACCACGAGGCAGATCA 0.622 Pancreas(183;2617 2876 10173 34193) NA 25 83 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 8969281 8969281 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:8969281C>A uc002mkp.2 - 79 43267 c.43063G>T c.(43063-43065)GAT>TAT p.D14355Y MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.D1155Y|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 CTCACCGCATCCTCAATATTC 0.453 NA 55 109 4.52765e-18 5.52663e-18 0.00361 1 0 MUC16 94025 broad.mit.edu 37 19 8994195 8994195 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:8994195G>A uc002mkp.2 - 65 41694 c.41490C>T c.(41488-41490)TTC>TTT p.F13830F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F647F|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13833 Extracellular (Potential).|SEA 12. Missing (in Ref. 3; AAK74120). 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 TGGTGTTCTTGAACAAGGGCC 0.537 NA 33 64 0 0 0.009718 0 0 MUC16 94025 broad.mit.edu 37 19 9049135 9049135 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:9049135G>A uc002mkp.2 - 5 32700 c.32496C>T c.(32494-32496)AGC>AGT p.S10832S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10834 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 GAACTGTTGGGCTGGTCTGTG 0.483 NA 44 89 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9062050 9062050 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:9062050G>C uc002mkp.2 - 3 25600 c.25396C>G c.(25396-25398)CAG>GAG p.Q8466E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8468 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGGTGAACTGATCAGGCCCT 0.498 NA 56 142 0 0 0.00361 0 0 KEAP1 9817 broad.mit.edu 37 19 10610405 10610405 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:10610405G>A uc002moq.1 - 2 461 c.305C>T c.(304-306)TCA>TTA p.S102L KEAP1_uc002mor.1_Missense_Mutation_p.S102L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 102 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) AGGGCTGGATGAGGCCAGCAC 0.627 NA 16 21 0 0 0.004007 0 0 AP1M2 10053 broad.mit.edu 37 19 10692432 10692432 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:10692432G>A uc002mpc.2 - 4 474 c.390C>T c.(388-390)ATC>ATT p.I130I AP1M2_uc002mpd.2_Silent_p.I130I NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 130 cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(2) 2 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) ACTCCTGCAGGATCTTGCTGT 0.602 NA 16 30 0 0 0.006122 0 0 DOCK6 57572 broad.mit.edu 37 19 11347230 11347230 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:11347230G>A uc002mqs.3 - 20 2225 c.2184C>T c.(2182-2184)TTC>TTT p.F728F DOCK6_uc010xlq.1_Silent_p.F32F|LOC55908_uc010dxw.2_5'Flank|LOC55908_uc010dxx.2_5'Flank NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 728 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GCACCAGGGTGAAGAATTTGT 0.617 NA 4 12 0 0 0.009096 0 0 PLVAP 83483 broad.mit.edu 37 19 17488060 17488061 + Missense_Mutation DNP CG CG GA rs145946398 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:17488060_17488061CG>GA uc002ngk.1 - 1 87_88 c.37_38CG>TC c.(37-39)CGG>TCG p.R13S NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 13 Cytoplasmic (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GCCCCCCGCCCGAGCGTAGGAC 0.653 NA 37 110 0 0 0.004672 0 0 PDE4C 5143 broad.mit.edu 37 19 18331046 18331046 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:18331046C>A uc010xqc.1 - 7 1272 c.792G>T c.(790-792)CGG>CGT p.R264R PDE4C_uc002nik.3_Silent_p.R264R|PDE4C_uc002nil.3_Silent_p.R264R|PDE4C_uc002nif.3_Silent_p.R33R|PDE4C_uc002nig.3_Silent_p.R34R|PDE4C_uc002nih.3_Silent_p.R34R|PDE4C_uc010ebk.2_Silent_p.R158R|PDE4C_uc002nii.3_Silent_p.R232R|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_Silent_p.R33R|PDE4C_uc010ebm.1_RNA NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 264 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) CCAGGAAGGTCCGGGAGATGT 0.542 NA 74 169 8.20938e-55 1.09352e-54 0.00361 1 0 ELL 8178 broad.mit.edu 37 19 18561707 18561707 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:18561707G>A uc002njh.2 - 8 1117 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* ELL_uc010ebq.2_Nonsense_Mutation_p.Q292*|ELL_uc002njg.2_Nonsense_Mutation_p.Q216* NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 349 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) ACGGCAGGCTGAGCTCTCTGA 0.627 NA T MLL AL OREG0025365 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 24 0 0 0.00308 0 0 ZNF93 81931 broad.mit.edu 37 19 20026089 20026089 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:20026089G>T uc002non.2 + 2 115 c.4G>T c.(4-6)GGA>TGA p.G2* ZNF93_uc002nom.2_Nonsense_Mutation_p.G2* NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 2 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 TGTTTTTCAGGGACCATTGCA 0.413 NA 39 137 1.30916e-28 1.67867e-28 0.00361 1 0 ZNF91 7644 broad.mit.edu 37 19 23542380 23542380 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:23542380T>A uc002nre.2 - 4 3514 c.3401A>T c.(3400-3402)TAC>TTC p.Y1134F ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.Y1102F NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1134 C2H2-type 36. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTCACATTTGTAGGGTTTCTC 0.323 NA 16 31 0 0 0.003163 0 0 ZNF675 171392 broad.mit.edu 37 19 23836495 23836495 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:23836495G>A uc002nri.2 - 4 1422 c.1240C>T c.(1240-1242)CAT>TAT p.H414Y NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 414 C2H2-type 10. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATTCTCTTATGTGTAGTAAGG 0.373 NA 21 45 0 0 0.00278 0 0 CCNE1 898 broad.mit.edu 37 19 30313407 30313407 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:30313407T>C uc002nsn.2 + 11 1190 c.1007T>C c.(1006-1008)ATG>ACG p.M336T CCNE1_uc002nso.2_Missense_Mutation_p.M321T|CCNE1_uc002nsp.2_Missense_Mutation_p.M83T NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 336 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCATTTGCCATGGTTATAAGG 0.498 NA 58 103 0 0 0.00361 0 0 ZNF536 9745 broad.mit.edu 37 19 31039132 31039132 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:31039132A>T uc002nsu.1 + 4 2744 c.2606A>T c.(2605-2607)CAC>CTC p.H869L ZNF536_uc010edd.1_Missense_Mutation_p.H869L NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 869 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCTGGAGATCACTCGGGGCAG 0.582 NA 24 60 0 0 0.005443 0 0 ZNF599 148103 broad.mit.edu 37 19 35251243 35251243 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:35251243C>T uc010edn.1 - 4 851 c.463G>A c.(463-465)GAT>AAT p.D155N ZNF599_uc010edm.1_Missense_Mutation_p.D118N NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TCCAAATCATCATGTTTATAA 0.438 NA 41 103 0 0 0.002522 0 0 HPN 3249 broad.mit.edu 37 19 35556566 35556566 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:35556566G>A uc002nxq.1 + 12 1276 c.1031G>A c.(1030-1032)GGT>GAT p.G344D HPN_uc002nxr.1_Missense_Mutation_p.G344D|HPN_uc002nxs.1_Missense_Mutation_p.G186D|HPN_uc010xsh.1_Missense_Mutation_p.G313D|HPN_uc002nxt.1_Missense_Mutation_p.G228D|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 344 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) TACCCCGAGGGTGGCATTGAT 0.602 NA 6 103 0 0 0.00308 0 0 CD22 933 broad.mit.edu 37 19 35823807 35823807 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:35823807G>C uc010edt.2 + 3 469 c.392G>C c.(391-393)CGA>CCA p.R131P CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.R131P|CD22_uc010edv.2_Missense_Mutation_p.R131P|CD22_uc002nzb.3_Missense_Mutation_p.R131P NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 131 Extracellular (Potential).|Ig-like V-type. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGGATGGAACGAATACACCTC 0.552 Ovarian(42;1009 1133 23674 26041) NA 25 58 0 0 0.007291 0 0 PAF1 54623 broad.mit.edu 37 19 39876822 39876822 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:39876822C>T uc002old.2 - 14 1580 c.1405G>A c.(1405-1407)GAG>AAG p.E469K PAF1_uc002ole.1_Missense_Mutation_p.M397I NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 469 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCTCTGTCCTCATCATCAGAG 0.617 NA 70 115 0 0 0.00361 0 0 LGALS14 56891 broad.mit.edu 37 19 40199894 40199894 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:40199894G>A uc002omg.2 + 4 584 c.361G>A c.(361-363)GTG>ATG p.V121M LGALS14_uc002omf.2_Missense_Mutation_p.V150M NM_020129 NP_064514 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 isoform 121 Galectin. nucleus sugar binding ovary(1)|skin(1) 2 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) GCCAGCATCTGTGAAGATGCT 0.458 NA 15 60 0 0 0.006122 0 0 FCGBP 8857 broad.mit.edu 37 19 40433429 40433429 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:40433429A>G uc002omp.3 - 2 848 c.840T>C c.(838-840)CAT>CAC p.H280H NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 280 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGATACCCCCATGGTTGTAGG 0.592 NA 17 40 0 0 0.008871 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41778021 41778021 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:41778021C>T uc002oqb.3 + 3 742 c.453C>T c.(451-453)ACC>ACT p.T151T CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.T51T|HNRNPUL1_uc002oqa.3_Silent_p.T51T|HNRNPUL1_uc010ehm.2_Silent_p.T151T|HNRNPUL1_uc002oqc.3_Silent_p.T108T|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.T51T|HNRNPUL1_uc010ehn.2_Silent_p.T51T|HNRNPUL1_uc010eho.2_Silent_p.T51T|HNRNPUL1_uc010xvy.1_Silent_p.T51T|HNRNPUL1_uc010ehp.2_Silent_p.T7T|HNRNPUL1_uc010ehl.1_Silent_p.T51T NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 151 nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 GAGCACCCACCAGCTTCCTCC 0.502 NA 58 103 0 0 0.00361 0 0 TMEM145 284339 broad.mit.edu 37 19 42818843 42818843 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:42818843G>T uc002otk.1 + 4 404 c.352G>T c.(352-354)GGC>TGC p.G118C NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 118 integral to membrane 0 Prostate(69;0.00682) TGCCTGGTCCGGCTGTCAGGT 0.622 NA 60 101 1.72039e-30 2.23098e-30 0.00361 1 0 ZNF223 7766 broad.mit.edu 37 19 44570323 44570323 + Silent SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:44570323T>C uc002oyf.1 + 5 595 c.342T>C c.(340-342)CCT>CCC p.P114P ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TAACCAGGCCTCAAGACTCTA 0.473 NA 12 41 0 0 0.001368 0 0 PRKD2 25865 broad.mit.edu 37 19 47197300 47197300 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:47197300C>G uc002pfh.2 - 11 1750 c.1408G>C c.(1408-1410)GTC>CTC p.V470L PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Missense_Mutation_p.V313L|PRKD2_uc002pfi.2_Missense_Mutation_p.V470L|PRKD2_uc002pfj.2_Missense_Mutation_p.V470L|PRKD2_uc010xye.1_Missense_Mutation_p.V470L|PRKD2_uc002pfk.2_Missense_Mutation_p.V313L NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 470 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TTGGCAGTGACGATCTCAAAG 0.652 NA 25 56 0 0 0.00632 0 0 KPTN 11133 broad.mit.edu 37 19 47986462 47986462 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:47986462C>T uc002pgy.2 - 4 509 c.405G>A c.(403-405)CTG>CTA p.L135L KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 135 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) GCTCCAGGTTCAGGCAGCTCT 0.612 NA 67 143 0 0 0.00361 0 0 AKT1S1 84335 broad.mit.edu 37 19 50373285 50373285 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:50373285C>T uc002pql.3 - 5 1386 c.660G>A c.(658-660)GCG>GCA p.A220A PNKP_uc002pqh.2_5'Flank|PNKP_uc002pqi.2_5'Flank|PNKP_uc002pqj.2_5'Flank|PNKP_uc010enm.2_5'Flank|PNKP_uc002pqk.2_5'Flank|AKT1S1_uc002pqn.3_Silent_p.A220A|AKT1S1_uc002pqm.3_Silent_p.A220A NM_032375 NP_115751 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 220 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding 0 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CGCGCATGCTCGCCGCGATGC 0.716 NA 10 14 0 0 0.000978 0 0 VRK3 51231 broad.mit.edu 37 19 50498136 50498136 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:50498136C>A uc002prg.2 - 9 903 c.805G>T c.(805-807)GCC>TCC p.A269S VRK3_uc002prh.1_Missense_Mutation_p.A269S|VRK3_uc002pri.1_Missense_Mutation_p.A219S|VRK3_uc010ens.2_Missense_Mutation_p.A269S|VRK3_uc010ybl.1_Missense_Mutation_p.A219S|VRK3_uc010ybm.1_Missense_Mutation_p.A38S|VRK3_uc002prj.1_Missense_Mutation_p.A219S|VRK3_uc002prk.1_Missense_Mutation_p.A269S|VRK3_uc010ent.1_Missense_Mutation_p.A25S|VRK3_uc002prl.2_Missense_Mutation_p.A269S|VRK3_uc010ybn.1_Silent_p.R246R NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 269 Protein kinase. nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) ACATCCAGGGCCGACTGAAGG 0.622 Pancreas(6;90 181 4352 12603 17050 34726 35237 44094) NA 20 49 1.10513e-12 1.28061e-12 0.002299 1 0 CEACAM18 729767 broad.mit.edu 37 19 51983826 51983826 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:51983826G>T uc002pwv.1 + 3 475 c.475G>T c.(475-477)GGC>TGC p.G159C NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 159 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GAACAGAGAAGGCAGCCTGTT 0.557 NA 16 46 1.37285e-15 1.63787e-15 0.004007 1 0 ZNF528 84436 broad.mit.edu 37 19 52909814 52909814 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:52909814G>A uc002pzh.2 + 6 615 c.189G>A c.(187-189)AAG>AAA p.K63K ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TAGAGCAAAAGAGAGATCCCT 0.478 NA 30 68 0 0 0.003271 0 0 ZNF765 91661 broad.mit.edu 37 19 53911769 53911769 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:53911769C>T uc010ydx.1 + 6 1288 c.961C>T c.(961-963)CAT>TAT p.H321Y ZNF765_uc002qbm.2_Missense_Mutation_p.H321Y|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 321 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) TAGGAGAATTCATACTGGAGA 0.403 NA 28 86 0 0 0.00632 0 0 NLRP12 91662 broad.mit.edu 37 19 54313954 54313954 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:54313954G>T uc002qch.3 - 3 1179 c.959C>A c.(958-960)ACG>AAG p.T320K NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.T320K|NLRP12_uc002qcj.3_Missense_Mutation_p.T320K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.T320K NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 320 NACHT. 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) AAGCAGCTCCGTGGGCCGTTT 0.567 NA 21 25 3.62473e-10 4.09648e-10 0.001882 1 0 LAIR2 3904 broad.mit.edu 37 19 55021737 55021737 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:55021737G>A uc002qgc.2 + 5 539 c.417G>A c.(415-417)GGG>GGA p.G139G LAIR2_uc002qgd.2_Silent_p.G122G|LAIR2_uc010erl.2_Missense_Mutation_p.G108E NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like 139 extracellular region receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) TCCTCACAGGGACTGTGCCAG 0.373 NA 21 65 0 0 0.00278 0 0 BRSK1 84446 broad.mit.edu 37 19 55816287 55816287 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:55816287G>T uc002qkg.2 + 14 1993 c.1716G>T c.(1714-1716)CAG>CAT p.Q572H BRSK1_uc002qkf.2_Missense_Mutation_p.Q588H|BRSK1_uc002qkh.2_Missense_Mutation_p.Q267H NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 572 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCAAGATGCAGGGTATGGGGG 0.627 NA 21 48 7.92952e-12 9.11165e-12 0.003954 1 0 NLRP9 338321 broad.mit.edu 37 19 56244602 56244602 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr19:56244602G>T uc002qly.2 - 2 623 c.595C>A c.(595-597)CTG>ATG p.L199M NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 199 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGGAGCTCCAGTAAGCTGGTC 0.473 NA 7 18 3.09899e-07 3.35846e-07 0.004482 1 0 SNTG2 54221 broad.mit.edu 37 2 1133490 1133490 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:1133490G>C uc002qwq.2 + 6 534 c.406G>C c.(406-408)GAA>CAA p.E136Q SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 136 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AACTCATGAAGAAGTGGTAAG 0.269 NA 26 47 0 0 0.003271 0 0 PXDN 7837 broad.mit.edu 37 2 1684106 1684106 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:1684106C>T uc002qxa.2 - 7 653 c.589G>A c.(589-591)GAC>AAC p.D197N PXDN_uc002qxb.1_Missense_Mutation_p.D197N|PXDN_uc002qxc.1_Missense_Mutation_p.D14N NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 197 LRRCT. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ATTTCACAGTCGCAGTGAAGT 0.582 NA 18 48 0 0 0.001882 0 0 APOB 338 broad.mit.edu 37 2 21250865 21250865 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:21250865A>G uc002red.2 - 14 2030 c.1902T>C c.(1900-1902)TCT>TCC p.S634S NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 634 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GATAGTTCCGAGAGAATTTTC 0.363 NA 37 82 0 0 0.007835 0 0 ASXL2 55252 broad.mit.edu 37 2 25973043 25973043 + Nonsense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:25973043G>C uc002rgs.2 - 11 1603 c.1382C>G c.(1381-1383)TCA>TGA p.S461* ASXL2_uc002rgt.1_Nonsense_Mutation_p.S201* NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGGGCTCTGAAGATGTGGA 0.483 NA 86 144 0 0 0.00361 0 0 TRIM54 57159 broad.mit.edu 37 2 27505683 27505683 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:27505683C>T uc002rjo.2 + 1 84 c.84C>T c.(82-84)ATC>ATT p.I28I TRIM54_uc002rjn.2_Silent_p.I28I NM_187841 NP_912730 Q9BYV2 TRI54_HUMAN ring finger protein 30 isoform 2 28 RING-type. cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGCCCCATCTGCCTGGAGA 0.587 NA 126 249 0 0 0.00361 0 0 MAP4K3 8491 broad.mit.edu 37 2 39552700 39552700 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:39552700C>A uc002rro.2 - 12 968 c.877G>T c.(877-879)GAT>TAT p.D293Y MAP4K3_uc002rrp.2_Missense_Mutation_p.D293Y|MAP4K3_uc010yns.1_5'UTR NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 293 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) GTGGAATGATCTGGATTATTT 0.318 NA 24 60 2.2171e-23 2.7805e-23 0.009535 1 0 RHOQ 23433 broad.mit.edu 37 2 46808133 46808133 + Nonsense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:46808133G>T uc002rva.2 + 5 848 c.529G>T c.(529-531)GAG>TAG p.E177* uc002rvb.2_5'Flank NM_012249 NP_036381 P17081 RHOQ_HUMAN ras-like protein TC10 precursor 177 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TGTTTTTGATGAGGCTATCAT 0.348 NA 32 65 2.1956e-27 2.80481e-27 0.004289 1 0 USP34 9736 broad.mit.edu 37 2 61415551 61415551 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:61415551T>C uc002sbe.2 - 80 10349 c.10327A>G c.(10327-10329)AGA>GGA p.R3443G USP34_uc002sbd.2_Missense_Mutation_p.R245G NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3443 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TCGTCATATCTACCATTGTTG 0.398 NA 22 62 0 0 0.010504 0 0 ALMS1 7840 broad.mit.edu 37 2 73676206 73676206 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:73676206C>G uc002sje.1 + 10 2666 c.2555C>G c.(2554-2556)CCA>CGA p.P852R ALMS1_uc002sjf.1_Missense_Mutation_p.P808R|ALMS1_uc002sjg.2_Missense_Mutation_p.P238R|ALMS1_uc002sjh.1_Missense_Mutation_p.P238R NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 850 7.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACTGGGACACCAGCTGTAACC 0.498 NA 16 47 0 0 0.00499 0 0 ALMS1 7840 broad.mit.edu 37 2 73676340 73676340 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:73676340C>G uc002sje.1 + 10 2800 c.2689C>G c.(2689-2691)CAG>GAG p.Q897E ALMS1_uc002sjf.1_Missense_Mutation_p.Q853E|ALMS1_uc002sjg.2_Missense_Mutation_p.Q283E|ALMS1_uc002sjh.1_Missense_Mutation_p.Q283E NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 895 8.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACCAGGTGATCAGAAGACTGG 0.458 NA 37 71 0 0 0.00874 0 0 ALMS1 7840 broad.mit.edu 37 2 73826634 73826634 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:73826634A>G uc002sje.1 + 19 11768 c.11657A>G c.(11656-11658)AAG>AGG p.K3886R ALMS1_uc002sjf.1_Missense_Mutation_p.K3842R|ALMS1_uc002sjh.1_Missense_Mutation_p.K3272R NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3884 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ATGTTAAACAAGGGCATACAA 0.254 NA 43 96 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 2 89890585 89890585 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:89890585G>C uc010yts.1 + 1 24 c.18G>C c.(16-18)CAG>CAC p.Q6H RecName: Full=Ig kappa chain V-II region Cum; NA TCCCTGCTCAGCTCCTGGGGC 0.552 NA 16 158 0 0 0.002299 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040355 103040355 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:103040355A>T uc002tbx.2 + 4 639 c.155A>T c.(154-156)CAG>CTG p.Q52L IL18RAP_uc010fiz.2_Intron NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 52 Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CCAGAGCCACAGAAATCACAT 0.403 NA 15 26 0 0 0.004007 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149081 103149081 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:103149081G>T uc002tbz.3 + 12 2788 c.2331G>T c.(2329-2331)TGG>TGT p.W777C NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 777 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GGTCGAGGTGGACAGCTGACC 0.507 NA 5 20 5.9392e-07 6.40612e-07 0.001168 1 0 CKAP2L 150468 broad.mit.edu 37 2 113514362 113514362 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:113514362C>G uc002tie.2 - 4 665 c.586G>C c.(586-588)GAG>CAG p.E196Q CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.E31Q|CKAP2L_uc010yxq.1_Missense_Mutation_p.E31Q NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 196 centrosome 0 GGCTTCCTCTCAGGTTCTGTT 0.338 NA 7 23 0 0 0.001984 0 0 GYPC 2995 broad.mit.edu 37 2 127451438 127451438 + Splice_Site SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:127451438A>G uc002tnq.2 + 3 263 c.107_splice c.e3-2 p.E36_splice GYPC_uc002tnr.2_Splice_Site_p.E17_splice|GYPC_uc010flv.2_Splice_Site NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CTCTGTTCACAGAGCCTGATC 0.542 Melanoma(110;806 1600 6704 9981 33404) NA 28 74 0 0 0.009535 0 0 MGAT5 4249 broad.mit.edu 37 2 135076221 135076221 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:135076221T>A uc002ttv.1 + 4 629 c.484T>A c.(484-486)TGG>AGG p.W162R NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 162 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) CTTGTTTCAGTGGATGAAAGA 0.488 NA 48 131 0 0 0.00361 0 0 PABPC1P2 728773 broad.mit.edu 37 2 147346258 147346258 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:147346258G>A uc002twf.3 + 1 1634 c.718G>A c.(718-720)GCT>ACT p.A240T NR_026904 RecName: Full=Putative protein PABPC1-like; AltName: Full=Polyadenylate-binding protein pseudogene 2; 0 CCAGAACCGTGCTGCATACTA 0.517 NA 28 55 0 0 0.009535 0 0 MBD5 55777 broad.mit.edu 37 2 149226874 149226874 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:149226874G>T uc002twm.3 + 9 2350 c.1362G>T c.(1360-1362)GAG>GAT p.E454D MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.E454D|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 454 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GAAGGATTGAGGCATCGCCCC 0.502 NA 12 18 1.3612e-06 1.45904e-06 0.003163 1 0 ACVR1C 130399 broad.mit.edu 37 2 158390463 158390463 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:158390463A>G uc002tzk.3 - 9 1692 c.1449T>C c.(1447-1449)TCT>TCC p.S483S ACVR1C_uc002tzl.3_Silent_p.S403S|ACVR1C_uc010fof.2_Silent_p.S326S|ACVR1C_uc010foe.2_Silent_p.S433S NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 483 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 CACAAAGTTGAGATATAGTCT 0.403 NA 30 56 0 0 0.002096 0 0 SCN1A 6323 broad.mit.edu 37 2 166903286 166903286 + Silent SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:166903286T>C uc010zcz.1 - 9 1389 c.1371A>G c.(1369-1371)GCA>GCG p.A457A SCN1A_uc002udo.3_Silent_p.A326A|SCN1A_uc010fpk.2_Silent_p.A326A NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 457 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) TTACCTGAGCTGCCTCCTGTT 0.458 NA 14 40 0 0 0.003163 0 0 ABCB11 8647 broad.mit.edu 37 2 169869891 169869891 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:169869891C>G uc002ueo.1 - 5 406 c.280G>C c.(280-282)GAC>CAC p.D94H NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 94 ABC transmembrane type-1 1.|Extracellular (Potential). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AACTCAACGTCGTAGTCAATA 0.428 NA 54 106 0 0 0.00361 0 0 PPIG 9360 broad.mit.edu 37 2 170462555 170462555 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:170462555A>G uc002uez.2 + 5 363 c.143A>G c.(142-144)AAG>AGG p.K48R PPIG_uc010fpx.2_Missense_Mutation_p.K48R|PPIG_uc010fpy.2_Missense_Mutation_p.K44R|PPIG_uc002ufa.2_Missense_Mutation_p.K48R|PPIG_uc002ufb.2_Missense_Mutation_p.K48R|PPIG_uc002ufc.1_Missense_Mutation_p.K48R|PPIG_uc002ufd.2_Missense_Mutation_p.K48R NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 48 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) ATAGGTGAAAAGGGGACCGGG 0.353 NA 3 71 0 0 0.009096 0 0 EVX2 344191 broad.mit.edu 37 2 176948242 176948242 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:176948242A>G uc010zeu.1 - 1 449 c.263T>C c.(262-264)GTC>GCC p.V88A NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TTCGGAGGAGACGGTGCTTTC 0.627 NA 19 59 0 0 0.001882 0 0 HOXD3 3232 broad.mit.edu 37 2 177036264 177036264 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:177036264G>C uc002ukt.1 + 3 737 c.561G>C c.(559-561)AAG>AAC p.K187N NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 187 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GCGAGGACAAGAGCCCGCCAG 0.637 NA 17 27 0 0 0.00499 0 0 TTN 7273 broad.mit.edu 37 2 179397734 179397734 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:179397734G>A uc010zfg.1 - 307 96128 c.95904C>T c.(95902-95904)CTC>CTT p.L31968L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L25663L|TTN_uc010zfi.1_Silent_p.L25596L|TTN_uc010zfj.1_Silent_p.L25471L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32895 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) AAGGCATCCGGAGTTTTCTCT 0.453 NA 5 159 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179430662 179430662 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:179430662C>A uc010zfg.1 - 275 72717 c.72493G>T c.(72493-72495)GTG>TTG p.V24165L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17860L|TTN_uc010zfi.1_Missense_Mutation_p.V17793L|TTN_uc010zfj.1_Missense_Mutation_p.V17668L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25092 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) TTACTACTCACATTAGCATAC 0.418 NA 25 65 2.44723e-14 2.87466e-14 0.004656 1 0 TTN 7273 broad.mit.edu 37 2 179436378 179436378 + Silent SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:179436378A>T uc010zfg.1 - 275 67001 c.66777T>A c.(66775-66777)ACT>ACA p.T22259T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T15954T|TTN_uc010zfi.1_Silent_p.T15887T|TTN_uc010zfj.1_Silent_p.T15762T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23186 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) CCCAGGAAAGAGTAATACTAT 0.433 NA 20 29 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179642232 179642232 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:179642232G>T uc010zfg.1 - 26 4784 c.4560C>A c.(4558-4560)GCC>GCA p.A1520A TTN_uc010zfh.1_Silent_p.A1474A|TTN_uc010zfi.1_Silent_p.A1474A|TTN_uc010zfj.1_Silent_p.A1474A|TTN_uc002unb.2_Silent_p.A1520A|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1520 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) CACTGGGTGTGGCAGGGACAA 0.388 NA 14 44 3.27435e-08 3.60547e-08 0.00245 1 0 SDPR 8436 broad.mit.edu 37 2 192701335 192701335 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:192701335G>A uc002utb.2 - 2 922 c.592C>T c.(592-594)CAC>TAC p.H198Y NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 198 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCCACGGTGTGCAGGGTTTCC 0.547 NA 13 38 0 0 0.006122 0 0 AOX1 316 broad.mit.edu 37 2 201477456 201477456 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:201477456A>G uc002uvx.2 + 14 1489 c.1388A>G c.(1387-1389)TAT>TGT p.Y463C AOX1_uc010zhf.1_Missense_Mutation_p.Y19C|AOX1_uc010fsu.2_Translation_Start_Site NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 463 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TGCATCTCATATGGAGGCGTT 0.468 NA 19 49 0 0 0.001882 0 0 NBEAL1 65065 broad.mit.edu 37 2 204078335 204078335 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:204078335G>A uc002uzt.3 + 54 8275 c.7942G>A c.(7942-7944)GAT>AAT p.D2648N NBEAL1_uc002uzs.3_Missense_Mutation_p.D1289N|NBEAL1_uc002uzu.2_Missense_Mutation_p.D143N NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2648 binding ovary(1)|skin(1) 2 AGGTTTAGAAGATGGCAAATT 0.423 NA 49 94 0 0 0.00361 0 0 DYTN 391475 broad.mit.edu 37 2 207527684 207527684 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:207527684C>G uc002vbr.1 - 11 1693 c.1576G>C c.(1576-1578)GAA>CAA p.E526Q NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 526 Potential.|Poly-Glu. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCTTGCAGTTCCTCTTCCTCC 0.453 NA 38 106 0 0 0.002852 0 0 FN1 2335 broad.mit.edu 37 2 216286823 216286823 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:216286823G>A uc002vfa.2 - 10 1803 c.1537C>T c.(1537-1539)CAG>TAG p.Q513* FN1_uc002vfb.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfc.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfd.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfe.2_Nonsense_Mutation_p.Q513*|FN1_uc002vff.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfg.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfh.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfi.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfj.2_Nonsense_Mutation_p.Q513*|FN1_uc002vfl.2_Nonsense_Mutation_p.Q513* NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 513 Collagen-binding. 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) CCTCGAAGCTGCGAGTAGGCA 0.448 NA 50 111 0 0 0.00361 0 0 VIL1 7429 broad.mit.edu 37 2 219299291 219299291 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:219299291A>G uc002via.2 + 14 1608 c.1543A>G c.(1543-1545)ACA>GCA p.T515A VIL1_uc010zke.1_Missense_Mutation_p.T204A|VIL1_uc002vib.2_Missense_Mutation_p.T515A NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 515 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGGCCCTCCACACGGCTGTT 0.557 NA 28 75 0 0 0.002836 0 0 USP37 57695 broad.mit.edu 37 2 219418306 219418306 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:219418306C>G uc002vie.2 - 5 751 c.298G>C c.(298-300)GAT>CAT p.D100H USP37_uc010fvs.1_Missense_Mutation_p.D100H|USP37_uc010zkf.1_Missense_Mutation_p.D100H|USP37_uc002vif.2_Missense_Mutation_p.D100H|USP37_uc002vig.2_Missense_Mutation_p.D28H|USP37_uc010zkg.1_Missense_Mutation_p.D100H NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 100 D-box 2. ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TGGACTGCATCTAGAAACAAC 0.413 NA 16 37 0 0 0.008871 0 0 CCDC108 255101 broad.mit.edu 37 2 219870856 219870856 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:219870856G>A uc002vjl.1 - 31 4893 c.4809C>T c.(4807-4809)TGC>TGT p.C1603C NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1603 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGCTGGGGGCAGGGCCAGG 0.617 NA 27 88 0 0 0.002445 0 0 KIAA1486 57624 broad.mit.edu 37 2 226446730 226446730 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:226446730G>C uc002voe.2 + 4 772 c.597G>C c.(595-597)CCG>CCC p.P199P KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 199 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGCGAAATCCGAACACTCAGC 0.507 NA 55 105 0 0 0.00361 0 0 CHRND 1144 broad.mit.edu 37 2 233399876 233399876 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:233399876G>A uc002vsw.2 + 12 1412 c.1408G>A c.(1408-1410)GAC>AAC p.D470N CHRND_uc010zmg.1_Missense_Mutation_p.D455N|CHRND_uc010fyc.2_Missense_Mutation_p.D343N|CHRND_uc010zmh.1_Missense_Mutation_p.D276N NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 470 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CCGCACAGTGGACCGCCTCTG 0.627 NA 38 114 0 0 0.00874 0 0 EIF4E2 9470 broad.mit.edu 37 2 233421133 233421133 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:233421133G>A uc002vta.2 + 2 106 c.28G>A c.(28-30)GAT>AAT p.D10N EIF4E2_uc002vtb.1_Missense_Mutation_p.D10N|EIF4E2_uc002vsz.2_Missense_Mutation_p.D10N|EIF4E2_uc010zmi.1_Missense_Mutation_p.D10N NM_004846 NP_004837 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E 10 MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871). regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CAGTTTGAAAGATGATGACAG 0.413 NA 6 22 0 0 0.001984 0 0 DTYMK 1841 broad.mit.edu 37 2 242626193 242626193 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr2:242626193C>A uc002wbz.1 - 1 35 c.6G>T c.(4-6)GCG>GCT p.A2A DTYMK_uc010zpa.1_Silent_p.A2A|DTYMK_uc010zpb.1_RNA|DTYMK_uc002wca.1_RNA NM_012145 NP_036277 P23919 KTHY_HUMAN deoxythymidylate kinase (thymidylate kinase) 2 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CGCGCCGGGCCGCCATGACTG 0.706 NA 4 9 0.00024832 0.000259281 0.009096 1 0 SIRPB2 284759 broad.mit.edu 37 20 1456860 1456860 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:1456860G>A uc002wfg.2 - 5 1209 c.981C>T c.(979-981)GGC>GGT p.G327G SIRPB2_uc002wfh.3_Silent_p.G229G NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 327 Cytoplasmic (Potential). integral to membrane 0 CTCCTGCTGGGCCTGTGGTCT 0.607 NA 37 100 0 0 0.003214 0 0 SIRPG 55423 broad.mit.edu 37 20 1616208 1616208 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:1616208C>A uc002wfm.1 - 4 851 c.786G>T c.(784-786)AGG>AGT p.R262S SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 262 Extracellular (Potential).|Ig-like C1-type 2. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 GGTTCCCCACCCTCATGGGCT 0.552 NA 25 42 2.36697e-06 2.5292e-06 0.007291 1 0 HAO1 54363 broad.mit.edu 37 20 7866418 7866418 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:7866418C>A uc002wmw.1 - 6 931 c.907G>T c.(907-909)GCT>TCT p.A303S HAO1_uc010gbu.2_Missense_Mutation_p.A303S NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 303 FMN hydroxy acid dehydrogenase.|FMN (By similarity). cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 AGAGCCAGAGCTTTCAGAACA 0.498 NA 48 102 7.50695e-29 9.66186e-29 0.00361 1 0 JAG1 182 broad.mit.edu 37 20 10639247 10639247 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:10639247T>C uc002wnw.2 - 4 1079 c.563A>G c.(562-564)GAT>GGT p.D188G NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 188 Extracellular (Potential).|DSL. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GTAGTAGTCATCACAGGTCAC 0.532 NA Alagille_Syndrome 33 76 0 0 0.004289 0 0 MACROD2 140733 broad.mit.edu 37 20 14665577 14665577 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:14665577C>G uc002wou.2 + 5 654 c.390C>G c.(388-390)ATC>ATG p.I130M MACROD2_uc002wot.2_Missense_Mutation_p.I130M|MACROD2_uc002wox.2_RNA NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 130 Macro. 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) ATGCAAAAATCACATGTGGCT 0.428 NA 44 85 0 0 0.00361 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18165313 18165313 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:18165313C>G uc002wqj.2 + 10 2674 c.2052C>G c.(2050-2052)ATC>ATG p.I684M CSRP2BP_uc002wqk.2_Missense_Mutation_p.I556M|CSRP2BP_uc010zru.1_Missense_Mutation_p.I555M NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 684 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 AAAAAGTCATCATTGCCTTTG 0.413 NA 28 70 0 0 0.00632 0 0 C20orf185 359710 broad.mit.edu 37 20 31647283 31647283 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:31647283C>T uc002wym.1 + 3 381 c.381C>T c.(379-381)TGC>TGT p.C127C NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 127 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GCATGCATTGCTCTGGGTGAG 0.602 NA 7 22 0 0 0.001984 0 0 C20orf185 359710 broad.mit.edu 37 20 31647285 31647285 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:31647285C>G uc002wym.1 + 3 383 c.383C>G c.(382-384)TCC>TGC p.S128C NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 128 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 ATGCATTGCTCTGGGTGAGTG 0.602 NA 7 22 0 0 0.001984 0 0 E2F1 1869 broad.mit.edu 37 20 32264541 32264541 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:32264541G>C uc002wzu.3 - 7 1451 c.1311C>G c.(1309-1311)TTC>TTG p.F437L NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank NM_005225 NP_005216 Q01094 E2F1_HUMAN E2F transcription factor 1 437 Transactivation. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding 0 AGCCCTGTCAGAAATCCAGGG 0.627 NA 7 15 0 0 0.004482 0 0 MYH7B 57644 broad.mit.edu 37 20 33588488 33588488 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:33588488C>T uc002xbi.1 + 37 5392 c.5300C>T c.(5299-5301)TCG>TTG p.S1767L NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1725 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTTCTGCATTCGCAGGTGGGG 0.662 NA 4 9 0 0 0.001168 0 0 KIAA0406 9675 broad.mit.edu 37 20 36625251 36625251 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:36625251G>A uc002xhl.2 - 7 3107 c.2898C>T c.(2896-2898)ATC>ATT p.I966I KIAA0406_uc002xhm.2_Silent_p.I966I NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 966 binding 0 Myeloproliferative disorder(115;0.00874) CCCTGGCACTGATGGGGGCCT 0.597 NA 53 141 0 0 0.00361 0 0 PIGT 51604 broad.mit.edu 37 20 44049006 44049006 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:44049006C>T uc002xoh.1 + 7 877 c.804C>T c.(802-804)CTC>CTT p.L268L PIGT_uc010ghb.1_Silent_p.L258L|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Silent_p.L175L|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.L231L|PIGT_uc010ghf.1_Silent_p.L221L|PIGT_uc002xoj.1_Silent_p.L268L|PIGT_uc002xok.1_Silent_p.L233L|PIGT_uc010zwu.1_Silent_p.L6L|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.L6L|PIGT_uc010zww.1_Silent_p.L212L|PIGT_uc010zwx.1_Silent_p.L103L|PIGT_uc010zwy.1_Silent_p.L166L|PIGT_uc010zwz.1_Silent_p.L6L|PIGT_uc010zxa.1_Silent_p.L106L|PIGT_uc002xol.1_Silent_p.L124L|PIGT_uc010zxb.1_5'UTR NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 268 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCCGAACCCTCACGGAGCCCT 0.592 NA 14 14 0 0 0.007413 0 0 SULF2 55959 broad.mit.edu 37 20 46290572 46290572 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:46290572C>T uc002xto.2 - 18 2769 c.2439G>A c.(2437-2439)CTG>CTA p.L813L SULF2_uc002xtr.2_Silent_p.L813L|SULF2_uc002xtq.2_Silent_p.L813L|SULF2_uc010zyd.1_Silent_p.L92L NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 813 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TGCAGCTCCTCAGCTCCATGA 0.547 NA 31 137 0 0 0.002836 0 0 DDX27 55661 broad.mit.edu 37 20 47835954 47835954 + Missense_Mutation SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:47835954T>G uc002xuh.2 + 1 123 c.62T>G c.(61-63)GTG>GGG p.V21G NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 21 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCGCAGGCTGTGCTCGCTTCC 0.622 NA 20 35 0 0 0.010504 0 0 KCNB1 3745 broad.mit.edu 37 20 47990541 47990541 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:47990541G>A uc002xur.1 - 2 1720 c.1556C>T c.(1555-1557)TCT>TTT p.S519F KCNB1_uc002xus.1_Missense_Mutation_p.S519F NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 519 Poly-Ser.|Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGAGGACTAGAAGACGATCT 0.468 NA 181 194 0 0 0.00361 0 0 C20orf85 128602 broad.mit.edu 37 20 56728612 56728612 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:56728612G>A uc002xyv.2 + 2 119 c.81G>A c.(79-81)CTG>CTA p.L27L NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 27 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AATACCGTCTGAAGGCTGAAT 0.473 NA 105 115 0 0 0.00361 0 0 C20orf20 55257 broad.mit.edu 37 20 61428022 61428022 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:61428022C>T uc002ydi.2 + 1 218 c.147C>T c.(145-147)GTC>GTT p.V49V NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 49 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) ACAAGCCCGTCGGTGAGCGCC 0.517 NA 6 7 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61528345 61528345 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr20:61528345G>A uc002ydr.1 - 7 1856 c.1592C>T c.(1591-1593)ACG>ATG p.T531M DIDO1_uc002yds.1_Missense_Mutation_p.T531M|DIDO1_uc002ydt.1_Missense_Mutation_p.T531M|DIDO1_uc002ydu.1_Missense_Mutation_p.T531M NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 531 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GTCTTCCTTCGTGGCTACAAA 0.562 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 10 18 0 0 0.001368 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19698834 19698834 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:19698834C>A uc002ykw.2 - 16 1867 c.1836G>T c.(1834-1836)ATG>ATT p.M612I NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 612 Extracellular (Potential).|CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GAAGCACAGTCATTCTGTTGG 0.458 NA 41 77 5.44703e-19 6.74488e-19 0.009718 1 0 CCT8 10694 broad.mit.edu 37 21 30435737 30435737 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:30435737T>A uc002ynb.2 - 8 976 c.877A>T c.(877-879)ACA>TCA p.T293S CCT8_uc002ymz.2_5'Flank|CCT8_uc011acp.1_Missense_Mutation_p.T274S|CCT8_uc002yna.2_Missense_Mutation_p.T242S|CCT8_uc002ync.2_Missense_Mutation_p.T292S|CCT8_uc010glm.2_Missense_Mutation_p.T234S|CCT8_uc011acq.1_Missense_Mutation_p.T220S NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 293 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 TTGCCACCTGTTACTACGACA 0.353 NA 30 53 0 0 0.004878 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768547 31768547 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:31768547T>A uc002yoa.2 + 1 156 c.143T>A c.(142-144)CTG>CAG p.L48Q NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 48 1.|5 X 10 AA approximate repeats. intermediate filament ovary(1) 1 ACGTGCCAGCTGGGTTCCTCT 0.612 NA 22 59 0 0 0.00278 0 0 IGSF5 150084 broad.mit.edu 37 21 41151172 41151172 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:41151172C>T uc002yyo.2 + 5 977 c.874C>T c.(874-876)CGT>TGT p.R292C NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 292 Cytoplasmic (Potential).|Cys-rich. integral to membrane|tight junction 0 Prostate(19;5.35e-06) ctgctgccgccgtcgttgttg 0.264 NA 17 27 0 0 0.004007 0 0 DSCAM 1826 broad.mit.edu 37 21 41450791 41450791 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:41450791C>G uc002yyq.1 - 26 4986 c.4534G>C c.(4534-4536)GAG>CAG p.E1512Q DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1512 Extracellular (Potential).|Fibronectin type-III 6. 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) GGCCTGTACTCTAGTGTGAAG 0.552 Melanoma(134;970 1778 1785 21664 32388) NA 13 26 0 0 0.003163 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032559 46032559 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:46032559C>T uc002zfo.1 + 1 564 c.542C>T c.(541-543)TCT>TTT p.S181F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 181 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 CCTGTCTGCTCTGGGGCTTCC 0.602 NA 97 257 0 0 0.00361 0 0 MCM3AP 8888 broad.mit.edu 37 21 47678951 47678951 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr21:47678951G>A uc002zir.1 - 16 3672 c.3636C>T c.(3634-3636)GTC>GTT p.V1212V MCM3AP_uc002zip.1_5'UTR|MCM3AP_uc002ziq.1_Silent_p.V139V NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1212 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGTGGGCACAGACATCCTCAC 0.537 NA 31 84 0 0 0.002096 0 0 ZNF280B 140883 broad.mit.edu 37 22 22842707 22842708 + Missense_Mutation DNP CC CC AA TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:22842707_22842708CC>AA uc002zwc.1 - 4 1792_1793 c.1016_1017GG>TT c.(1015-1017)TGG>TTT p.W339F LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TGTGGTTTTCCCAGCTGTCGTT 0.48 NA 78 33 0 0 0.004672 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG TG CA rs142470496 byFrequency TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 10 71 0 0 0.004672 0 0 APOL5 80831 broad.mit.edu 37 22 36122339 36122339 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:36122339C>A uc003aof.2 + 3 224 c.224C>A c.(223-225)TCC>TAC p.S75Y NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 75 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GGTATGCTGTCCTACTTTCTG 0.418 NA 33 22 4.34086e-07 4.6969e-07 0.005524 1 0 FAM109B 150368 broad.mit.edu 37 22 42473379 42473379 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:42473379G>C uc003bbz.2 + 3 269 c.82G>C c.(82-84)GGG>CGG p.G28R C22orf32_uc003bca.2_5'Flank NM_001002034 NP_001002034 Q6ICB4 SESQ2_HUMAN hypothetical protein LOC150368 28 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity 0 GCGCACCTGGGGGGGCCCAGG 0.637 NA 73 46 0 0 0.00361 0 0 CYP2D6 1565 broad.mit.edu 37 22 42524885 42524885 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:42524885G>A uc003bce.2 - 4 657 c.567C>T c.(565-567)CTC>CTT p.L189L uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'UTR|CYP2D6_uc003bcf.2_Silent_p.L138L NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 189 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 GCCCGCAGGTGAGGGAGGCGA 0.662 NA 4 0 0 0 0.001168 0 0 CYP2D6 1565 broad.mit.edu 37 22 42525130 42525130 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:42525130G>A uc003bce.2 - 3 500 c.410C>T c.(409-411)TCC>TTC p.S137F uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Intron NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 137 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 GCGCAAGGTGGAGACGGAGAA 0.687 NA 16 40 0 0 0.004007 0 0 GRAMD4 23151 broad.mit.edu 37 22 47022849 47022849 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:47022849G>C uc003bhx.2 + 1 192 c.153G>C c.(151-153)CTG>CTC p.L51L NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 51 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) GCGAGGAGCTGAGGGACCCTG 0.652 NA 6 84 0 0 0.001168 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50667893 50667893 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:50667893C>G uc003bkb.1 - 4 1742 c.1230G>C c.(1228-1230)CTG>CTC p.L410L TUBGCP6_uc010har.1_Silent_p.L410L|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 410 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGAAATGACTCAGGCGCGTGT 0.587 NA 10 23 0 0 0.001368 0 0 PLXNB2 23654 broad.mit.edu 37 22 50728234 50728234 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:50728234C>T uc003bkv.3 - 3 886 c.780G>A c.(778-780)CTG>CTA p.L260L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 260 Extracellular (Potential).|Sema. 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) GGTCCATCTCCAGGTAGGAGT 0.642 NA 29 42 0 0 0.004878 0 0 C3orf31 132001 broad.mit.edu 37 3 11851124 11851124 + Missense_Mutation SNP C C G rs140106641 byFrequency TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:11851124C>G uc003bwh.2 - 6 983 c.741G>C c.(739-741)CAG>CAC p.Q247H C3orf31_uc003bwj.2_Missense_Mutation_p.Q247H|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.Q247H NM_138807 NP_620162 Q96BW9 MMP37_HUMAN MMP37-like protein, mitochondrial precursor 247 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane 0 ATGTCATCAGCTGAGTGAACT 0.398 NA 20 27 0 0 0.004656 0 0 SATB1 6304 broad.mit.edu 37 3 18419677 18419677 + Silent SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:18419677T>G uc003cbh.2 - 9 3295 c.1560A>C c.(1558-1560)GCA>GCC p.A520A SATB1_uc003cbi.2_Silent_p.A520A|SATB1_uc003cbj.2_Silent_p.A520A NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 520 CUT 2. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TTTTGGTTGCTGCAACCTTTG 0.388 NA 34 46 0 0 0.00361 0 0 TRANK1 9881 broad.mit.edu 37 3 36896758 36896758 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:36896758G>A uc003cgj.2 - 3 2975 c.2673C>T c.(2671-2673)TTC>TTT p.F891F NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1441 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGGCATAATGGAACAGAGAGC 0.537 NA 29 33 0 0 0.007291 0 0 XIRP1 165904 broad.mit.edu 37 3 39226540 39226540 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:39226540C>T uc003cjk.1 - 2 4618 c.4397G>A c.(4396-4398)AGA>AAA p.R1466K XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.R149K NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1466 Potential. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TTTCTGGTTTCTTTGCAGACT 0.637 NA 32 37 0 0 0.002836 0 0 CELSR3 1951 broad.mit.edu 37 3 48688384 48688384 + Missense_Mutation SNP C C A rs2171560 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:48688384C>A uc003cul.2 - 15 6592 c.6311G>T c.(6310-6312)GGC>GTC p.G2104V CELSR3_uc003cuf.1_Missense_Mutation_p.G2174V|CELSR3_uc010hkg.2_Missense_Mutation_p.G82V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2104 Extracellular (Potential).|Laminin EGF-like. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCACTGGCGGCCAAGGGCTCC 0.662 NA 42 34 2.43468e-25 3.08723e-25 0.00361 1 0 SEMA3F 6405 broad.mit.edu 37 3 50223354 50223354 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:50223354C>T uc003cyj.2 + 16 1818 c.1620C>T c.(1618-1620)GTC>GTT p.V540V SEMA3F_uc003cyk.2_Silent_p.V509V NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 540 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CCGTGGGTGTCACACACCTGA 0.642 NA 34 67 0 0 0.00874 0 0 POC1A 25886 broad.mit.edu 37 3 52130587 52130587 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:52130587G>C uc003dcu.2 - 10 1441 c.1123C>G c.(1123-1125)CAG>GAG p.Q375E POC1A_uc003dcv.2_Missense_Mutation_p.Q337E|POC1A_uc003dcw.2_Intron NM_015426 NP_056241 Q8NBT0 POC1A_HUMAN WD repeat domain 51A isoform 1 375 Potential. centriole|microtubule basal body 0 TGGCCTACCTGAGTGAGGACA 0.567 NA 71 71 0 0 0.00361 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601146 64601146 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:64601146C>T uc003dmg.2 - 21 3072 c.3040G>A c.(3040-3042)GAC>AAC p.D1014N ADAMTS9_uc011bfo.1_Missense_Mutation_p.D986N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D843N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D1014N|ADAMTS9_uc011bfp.1_5'UTR NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1014 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GTCCCACCGTCACAGCTTTTT 0.403 NA 20 13 0 0 0.00333 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433423 73433423 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:73433423C>A uc003dpl.1 - 10 2390 c.2294G>T c.(2293-2295)CGC>CTC p.R765L PDZRN3_uc011bgh.1_Missense_Mutation_p.R422L|PDZRN3_uc010hoe.1_Missense_Mutation_p.R463L|PDZRN3_uc011bgf.1_Missense_Mutation_p.R482L|PDZRN3_uc011bgg.1_Missense_Mutation_p.R485L NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 765 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGGGGTGCTGCGGCAGCTCTC 0.647 NA 10 18 4.36969e-10 4.93028e-10 0.001855 1 0 ZPLD1 131368 broad.mit.edu 37 3 102187849 102187849 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:102187849G>A uc003dvs.1 + 15 1685 c.803G>A c.(802-804)CGA>CAA p.R268Q ZPLD1_uc003dvt.1_Missense_Mutation_p.R284Q|ZPLD1_uc011bhg.1_Missense_Mutation_p.R268Q NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 268 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 GAGAATGGCCGAAGCCAGCGG 0.478 NA 14 60 0 0 0.004007 0 0 CD47 961 broad.mit.edu 37 3 107798905 107798905 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:107798905G>C uc003dwt.1 - 2 513 c.333C>G c.(331-333)AAC>AAG p.N111K CD47_uc003dwu.1_Missense_Mutation_p.N111K|CD47_uc003dwv.1_Missense_Mutation_p.N111K|CD47_uc003dww.1_Missense_Mutation_p.N111K NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 111 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) CACAAGTGTAGTTTCCTGTGT 0.363 NA 51 190 0 0 0.00361 0 0 CD47 961 broad.mit.edu 37 3 107798924 107798924 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:107798924G>C uc003dwt.1 - 2 494 c.314C>G c.(313-315)GCT>GGT p.A105G CD47_uc003dwu.1_Missense_Mutation_p.A105G|CD47_uc003dwv.1_Missense_Mutation_p.A105G|CD47_uc003dww.1_Missense_Mutation_p.A105G NM_001777 NP_001768 Q08722 CD47_HUMAN CD47 antigen isoform 1 precursor 105 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to plasma membrane protein binding|thrombospondin receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) GTGTGAGACAGCATCACTCTT 0.393 NA 52 185 0 0 0.00361 0 0 MYH15 22989 broad.mit.edu 37 3 108129526 108129526 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:108129526G>C uc003dxa.1 - 32 4516 c.4459C>G c.(4459-4461)CAG>GAG p.Q1487E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1487 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTGAGAGCCTGAACTTCCTTC 0.572 NA 14 74 0 0 0.004007 0 0 DZIP3 9666 broad.mit.edu 37 3 108355516 108355516 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:108355516G>T uc003dxd.2 + 11 1394 c.972G>T c.(970-972)AGG>AGT p.R324S DZIP3_uc003dxf.1_Missense_Mutation_p.R324S|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.R324S|DZIP3_uc003dxg.1_Missense_Mutation_p.R47S NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 324 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACATGGTAAGGATGCTGCAAT 0.274 NA 46 143 3.63617e-18 4.45431e-18 0.00361 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111769520 111769520 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:111769520T>A uc010hqb.2 + 7 885 c.715T>A c.(715-717)TGT>AGT p.C239S TMPRSS7_uc011bhr.1_Missense_Mutation_p.C94S NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 365 Extracellular (Potential).|CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TTTTCCAGAGTGTGAAAACAC 0.398 NA 81 258 0 0 0.00361 0 0 BOC 91653 broad.mit.edu 37 3 112987214 112987214 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:112987214G>C uc003dzx.2 + 5 1066 c.445G>C c.(445-447)GCC>CCC p.A149P BOC_uc010hqi.2_Missense_Mutation_p.A149P|BOC_uc003dzy.2_Missense_Mutation_p.A149P|BOC_uc003dzz.2_Missense_Mutation_p.A149P|BOC_uc003eab.2_5'Flank NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 149 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) AGCAGTCATTGCCTGCCACCT 0.572 NA 26 23 0 0 0.009535 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375045 113375045 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:113375045G>A uc003eam.2 - 7 5895 c.5484C>T c.(5482-5484)CTC>CTT p.L1828L KIAA2018_uc003eal.2_Silent_p.L1772L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1828 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 CCTGATCACTGAGGTGAGGGG 0.468 NA 43 143 0 0 0.003214 0 0 C3orf30 152405 broad.mit.edu 37 3 118867070 118867070 + Missense_Mutation SNP G G C rs138537972 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:118867070G>C uc003ecb.1 + 2 1482 c.1442G>C c.(1441-1443)CGC>CCC p.R481P IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R481P NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 481 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) TATCATATACGCAATCAAACT 0.368 NA 55 49 0 0 0.00361 0 0 UPK1B 7348 broad.mit.edu 37 3 118909142 118909142 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:118909142C>T uc003ecc.2 + 4 410 c.321C>T c.(319-321)ATC>ATT p.I107I UPK1B_uc011bix.1_Silent_p.I27I|UPK1B_uc003ecd.2_Silent_p.I107I NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 107 Helical; (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) CATCTTGTATCACAGCAGCAA 0.269 NA 85 117 0 0 0.00361 0 0 TMEM39A 55254 broad.mit.edu 37 3 119180904 119180904 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:119180904C>G uc003eck.1 - 2 381 c.18G>C c.(16-18)AGG>AGC p.R6S TMEM39A_uc003ecl.1_5'UTR NM_018266 NP_060736 Q9NV64 TM39A_HUMAN transmembrane protein 39A 6 integral to membrane ovary(1)|breast(1) 2 GBM - Glioblastoma multiforme(114;0.244) GACTAGGGCCCCTCCTTCCAC 0.522 NA 6 46 0 0 0.001984 0 0 POLQ 10721 broad.mit.edu 37 3 121264695 121264695 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:121264695C>T uc003eee.3 - 1 159 c.30G>A c.(28-30)CGG>CGA p.R10R NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 10 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CTGAACGCCGCCGTTTCCCAC 0.647 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 9 35 0 0 0.008291 0 0 IQCB1 9657 broad.mit.edu 37 3 121547718 121547718 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:121547718C>G uc010hre.1 - 3 305 c.90G>C c.(88-90)TTG>TTC p.L30F IQCB1_uc003eek.2_Missense_Mutation_p.L30F|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 30 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) CTTTTAACTTCAACAGTATAA 0.333 NA 5 69 0 0 0.000602 0 0 CASR 846 broad.mit.edu 37 3 122003742 122003742 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:122003742G>A uc003eev.3 + 7 3313 c.2941G>A c.(2941-2943)GAG>AAG p.E981K CASR_uc003eew.3_Missense_Mutation_p.E991K NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 981 Cytoplasmic (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) GAGCTTTGATGAGCCTCAGAA 0.572 NA 18 68 0 0 0.006122 0 0 COPG 22820 broad.mit.edu 37 3 128973901 128973901 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:128973901C>T uc003els.2 + 7 573 c.473C>T c.(472-474)TCT>TTT p.S158F COPG_uc010htb.2_Missense_Mutation_p.S64F NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 158 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 GTCTCCAGCTCTGCCCTCGTG 0.517 NA 19 62 0 0 0.002299 0 0 COL6A6 131873 broad.mit.edu 37 3 130284269 130284269 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:130284269C>A uc010htl.2 + 3 1124 c.1093C>A c.(1093-1095)CTG>ATG p.L365M NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 365 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CATCTTCACCCTGGGCATAGA 0.572 NA 93 101 5.77035e-48 7.65659e-48 0.00361 1 0 TOPBP1 11073 broad.mit.edu 37 3 133362198 133362198 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:133362198G>C uc003eps.2 - 12 1999 c.1867C>G c.(1867-1869)CAG>GAG p.Q623E NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 623 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 AACAAAGTCTGATAGTCTATG 0.373 Ovarian(21;193 658 4424 15423 17362) NA Other_conserved_DNA_damage_response_genes 5 28 0 0 0.000602 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307453 146307453 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:146307453G>C uc003ewb.2 - 6 1768 c.764C>G c.(763-765)GCC>GGC p.A255G PLSCR5_uc010hvb.2_Missense_Mutation_p.A243G|PLSCR5_uc010hvc.2_Missense_Mutation_p.A255G NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 255 0 GAGAAAACAGGCACCGATCAT 0.383 NA 19 69 0 0 0.001882 0 0 NMD3 51068 broad.mit.edu 37 3 160960298 160960298 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:160960298G>T uc003feb.1 + 11 993 c.874G>T c.(874-876)GCA>TCA p.A292S NMD3_uc003fec.2_Missense_Mutation_p.A292S|NMD3_uc003fed.1_Missense_Mutation_p.A292S|NMD3_uc010hwh.2_Missense_Mutation_p.A112S NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 292 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) ATTTTTAGTGGCAGATATTGA 0.333 NA 52 71 6.05568e-20 7.53938e-20 0.00361 1 0 SI 6476 broad.mit.edu 37 3 164767629 164767629 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:164767629G>A uc003fei.2 - 14 1609 c.1547C>T c.(1546-1548)TCA>TTA p.S516L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 516 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCTTTTGTTGAACCTTGAAT 0.284 NA HNSCC(35;0.089) 16 83 0 0 0.006122 0 0 SPATA16 83893 broad.mit.edu 37 3 172634193 172634193 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:172634193C>T uc003fin.3 - 9 1575 c.1417G>A c.(1417-1419)GAG>AAG p.E473K NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 473 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGGGACTGCTCCTTTACTCTC 0.463 NA 122 177 0 0 0.00361 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:178928079G>C uc003fjk.2 + 8 1514 c.1357G>C c.(1357-1359)GAA>CAA p.E453Q NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1) 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) TCATGGATTAGAAGATTTGCT 0.348 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 75 69 0 0 0.00361 0 0 USP13 8975 broad.mit.edu 37 3 179478938 179478938 + Missense_Mutation SNP G G C rs61733591 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:179478938G>C uc003fkh.2 + 17 2068 c.1987G>C c.(1987-1989)GAG>CAG p.E663Q NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 663 UBA 1. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GCAGCTGGCCGAGATGGGTTT 0.493 NA 40 135 0 0 0.00361 0 0 CCDC39 339829 broad.mit.edu 37 3 180334372 180334372 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:180334372C>T uc010hxe.2 - 18 2633 c.2518G>A c.(2518-2520)GAA>AAA p.E840K CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 840 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ACTAACATTTCATCAATAACT 0.308 NA 14 11 0 0 0.004007 0 0 CCDC39 339829 broad.mit.edu 37 3 180378460 180378460 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:180378460C>A uc010hxe.2 - 4 529 c.414G>T c.(412-414)TGG>TGT p.W138C CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 138 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTTGCTGGTCCCAGTTCATTT 0.373 NA 10 11 3.07112e-06 3.26634e-06 0.000978 1 0 LIPH 200879 broad.mit.edu 37 3 185245369 185245369 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:185245369G>C uc003fpm.2 - 4 641 c.531C>G c.(529-531)CTC>CTG p.L177L LIPH_uc010hyh.2_Intron NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 177 Missing (in LAH2). lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTGCAGGGTCGAGGCCTGGAA 0.547 NA 40 34 0 0 0.006999 0 0 PDE6B 5158 broad.mit.edu 37 4 649750 649750 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:649750G>T uc003gap.2 + 7 1067 c.1014G>T c.(1012-1014)TGG>TGT p.W338C PDE6B_uc003gao.3_Missense_Mutation_p.W338C|PDE6B_uc011buy.1_Missense_Mutation_p.W59C|uc003gaq.1_5'Flank NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 338 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 CCGATCACTGGGCCCTGGCCA 0.652 GBM(71;463 1194 9848 25922 46834) NA 33 92 1.03484e-13 1.20526e-13 0.005524 1 0 MYL5 4636 broad.mit.edu 37 4 673776 673776 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:673776G>T uc003gav.2 + 4 366 c.261G>T c.(259-261)ATG>ATT p.M87I MYL5_uc003gat.2_RNA|MYL5_uc003gau.2_RNA NM_002477 NP_002468 Q02045 MYL5_HUMAN myosin regulatory light chain 5 87 regulation of muscle contraction muscle myosin complex calcium ion binding|structural constituent of muscle 0 ACTTCACCATGTTTCTGAACC 0.502 NA 25 52 1.06801e-11 1.22518e-11 0.009535 1 0 KLHL5 51088 broad.mit.edu 37 4 39077583 39077583 + Splice_Site SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:39077583A>G uc003gts.2 + 2 597 c.522_splice c.e2-2 p.R174_splice KLHL5_uc003gtp.2_Splice_Site_p.R128_splice|KLHL5_uc003gtq.2_Splice_Site|KLHL5_uc003gtr.1_Splice_Site_p.R174_splice|KLHL5_uc003gtt.2_Intron NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 cytoplasm|cytoskeleton actin binding ovary(1) 1 TTTTCTTTTCAGGACTTCCAA 0.323 NA 18 52 0 0 0.00278 0 0 NSUN7 79730 broad.mit.edu 37 4 40810350 40810350 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:40810350G>C uc003gvj.3 + 12 2046 c.1551G>C c.(1549-1551)GTG>GTC p.V517V NSUN7_uc003gvi.3_Nonstop_Mutation_p.*476S NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 CAGTGTCTGTGAATGATGTTT 0.413 NA 7 117 0 0 0.006214 0 0 GABRG1 2565 broad.mit.edu 37 4 46067385 46067385 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:46067385G>C uc003gxb.2 - 4 690 c.538C>G c.(538-540)CTA>GTA p.L180V NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 180 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TATTACCTTAGAGTATACAGA 0.313 NA 16 30 0 0 0.004007 0 0 GABRB1 2560 broad.mit.edu 37 4 47427732 47427732 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:47427732C>A uc003gxh.2 + 9 1496 c.1122C>A c.(1120-1122)ATC>ATA p.I374I GABRB1_uc011bze.1_Silent_p.I304I NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 374 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCCTGGAAATCCGGAATGAGA 0.562 NA 27 55 8.73648e-17 1.05144e-16 0.004289 1 0 FRYL 285527 broad.mit.edu 37 4 48611798 48611798 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:48611798G>C uc003gyh.1 - 8 1059 c.454C>G c.(454-456)CTA>GTA p.L152V FRYL_uc003gyk.2_Missense_Mutation_p.L152V NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GCTAAGTTTAGAACTTCATGA 0.303 NA 4 29 0 0 0.001168 0 0 LRRC66 339977 broad.mit.edu 37 4 52860629 52860629 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:52860629C>A uc003gzi.2 - 4 2572 c.2559G>T c.(2557-2559)CAG>CAT p.Q853H NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 853 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GTGGTGTTTGCTGTAAAACGT 0.398 NA 35 77 1.04594e-18 1.28818e-18 0.00623 1 0 PDCL2 132954 broad.mit.edu 37 4 56448305 56448305 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:56448305G>T uc003hbb.2 - 2 209 c.106C>A c.(106-108)CGT>AGT p.R36S NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 36 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TTCTGTAAACGTAAAACCATT 0.363 NA 8 40 0.00307968 0.00316741 0.00308 1 0 PAICS 10606 broad.mit.edu 37 4 57314715 57314715 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:57314715A>G uc003hbs.1 + 5 756 c.525A>G c.(523-525)ATA>ATG p.I175M PAICS_uc011cac.1_Missense_Mutation_p.I175M|PAICS_uc003hbt.1_Missense_Mutation_p.I182M|PAICS_uc003hbu.1_Missense_Mutation_p.I175M|PAICS_uc010ihd.1_Missense_Mutation_p.I176M NM_006452 NP_006443 P22234 PUR6_HUMAN phosphoribosylaminoimidazole carboxylase, 175 SAICAR synthetase. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity 0 Glioma(25;0.08)|all_neural(26;0.101) L-Aspartic Acid(DB00128) TATTTGAAATACTGGAGAAAT 0.383 GBM(53;429 1144 8755 40726) NA 4 8 0 0 0.009096 0 0 LPHN3 23284 broad.mit.edu 37 4 62679579 62679579 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:62679579C>T uc010ihh.2 + 6 1421 c.1248C>T c.(1246-1248)GAC>GAT p.D416D LPHN3_uc003hcq.3_Silent_p.D416D|LPHN3_uc003hcs.1_Silent_p.D245D NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 416 Extracellular (Potential). 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 ttcaccttgactctgagctag 0.139 NA 5 46 0 0 0.001984 0 0 UGT2B10 7365 broad.mit.edu 37 4 69870669 69870669 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:69870669C>A uc011cao.1 - 9 1517 c.1381G>T c.(1381-1383)GCT>TCT p.A461S UGT2B10_uc011can.1_Missense_Mutation_p.A377S P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 498 Helical; (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 GCCACACAGGCCAGCAGGAAC 0.448 Melanoma(133;755 1763 25578 26334 46021) NA 8 126 0.00307968 0.00316741 0.00308 1 0 SLC4A4 8671 broad.mit.edu 37 4 72215656 72215656 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:72215656A>G uc003hfy.2 + 5 534 c.417A>G c.(415-417)GAA>GAG p.E139E SLC4A4_uc010iic.2_Silent_p.E139E|SLC4A4_uc010iib.2_Silent_p.E139E|SLC4A4_uc003hfz.2_Silent_p.E139E|SLC4A4_uc003hgc.3_Silent_p.E95E|SLC4A4_uc003hga.2_Silent_p.E17E|SLC4A4_uc003hgb.3_Silent_p.E95E NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 139 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) AAAAAGTGGAACAGGGTGGGG 0.433 NA 24 51 0 0 0.007291 0 0 USO1 8615 broad.mit.edu 37 4 76726444 76726444 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:76726444G>C uc003hiu.2 + 18 2452 c.2277G>C c.(2275-2277)ATG>ATC p.M759I USO1_uc003hiv.2_Missense_Mutation_p.M601I|USO1_uc003hiw.2_Missense_Mutation_p.M594I NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 759 Potential. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AGGACTCTATGATTGAAAATA 0.333 NA 5 7 0 0 0.001168 0 0 FRAS1 80144 broad.mit.edu 37 4 79350311 79350311 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:79350311C>T uc003hlb.2 + 36 5214 c.4774C>T c.(4774-4776)CAG>TAG p.Q1592* FRAS1_uc003hkw.2_Nonsense_Mutation_p.Q1592*|FRAS1_uc010ijj.1_Nonsense_Mutation_p.Q12* NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1591 CSPG 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCCCAGTGATCAGCAACTGCC 0.458 NA 3 12 0 0 0.004672 0 0 FRAS1 80144 broad.mit.edu 37 4 79436952 79436952 + Splice_Site SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:79436952G>A uc003hlb.2 + 66 10615 c.10175_splice c.e66-1 p.E3392_splice NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTCCCTGGCAGAGGCAGGGTT 0.557 NA 19 47 0 0 0.007413 0 0 PRKG2 5593 broad.mit.edu 37 4 82126147 82126147 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:82126147C>A uc003hmh.2 - 1 69 c.55G>T c.(55-57)GGG>TGG p.G19W PRKG2_uc011cch.1_Missense_Mutation_p.G19W NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 19 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GTGAGGTTCCCAGAGTGTCCA 0.498 NA 14 24 1.5739e-10 1.78757e-10 0.004007 1 0 WDFY3 23001 broad.mit.edu 37 4 85686979 85686979 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:85686979C>A uc003hpd.2 - 32 5580 c.5172G>T c.(5170-5172)AAG>AAT p.K1724N NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1724 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAGTTCCAATCTTATTAGTTA 0.353 NA 19 62 5.26018e-13 6.10572e-13 0.001882 1 0 WDFY3 23001 broad.mit.edu 37 4 85729562 85729562 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:85729562T>A uc003hpd.2 - 15 2762 c.2354A>T c.(2353-2355)GAA>GTA p.E785V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 785 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGGGATCTGTTCTGCACGACT 0.468 NA 51 92 0 0 0.00361 0 0 C4orf37 285555 broad.mit.edu 37 4 98762043 98762043 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:98762043T>A uc003htt.1 - 9 1175 c.1085A>T c.(1084-1086)TAT>TTT p.Y362F NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 362 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) GGACATCTCATATGATTTGTG 0.358 NA 26 32 0 0 0.00333 0 0 TBC1D9 23158 broad.mit.edu 37 4 141578791 141578791 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:141578791G>A uc010ioj.2 - 12 2369 c.2097C>T c.(2095-2097)TTC>TTT p.F699F NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 699 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCCTTCATAGAAGAAACAGT 0.473 NA 45 44 0 0 0.00361 0 0 GK3P 2713 broad.mit.edu 37 4 166199383 166199383 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:166199383C>T uc003ird.3 - 1 1793 c.1415G>A c.(1414-1416)TGG>TAG p.W472* KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron NM_000167 NP_000158 glycerol kinase isoform b 0 TTCAAGACTCCATACGTCGAC 0.502 NA 13 7 0 0 0.001855 0 0 GK3P 2713 broad.mit.edu 37 4 166199718 166199718 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:166199718G>T uc003ird.3 - 1 1458 c.1080C>A c.(1078-1080)TTC>TTA p.F360L KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron NM_000167 NP_000158 glycerol kinase isoform b 0 ATGCTGGGACGAAGTAGCAGC 0.413 NA 36 32 4.00472e-15 4.73662e-15 0.00361 1 0 CDH9 1007 broad.mit.edu 37 5 26915822 26915822 + Missense_Mutation SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:26915822T>C uc003jgs.1 - 3 608 c.439A>G c.(439-441)ATT>GTT p.I147V CDH9_uc010iug.2_Missense_Mutation_p.I147V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 147 Extracellular (Potential).|Cadherin 1. 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 TGTATTTTAATGATAAATTCC 0.378 Melanoma(8;187 585 15745 40864 52829) NA 4 217 0 0 0.000602 0 0 CDH9 1007 broad.mit.edu 37 5 26988330 26988331 + Missense_Mutation DNP TA TA AT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:26988330_26988331TA>AT uc003jgs.1 - 2 279_280 c.110_111TA>AT c.(109-111)ATA>AAT p.I37N CDH9_uc010iug.2_Missense_Mutation_p.I37N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 37 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 TCAGACCCGCTATCTTTTTGCT 0.391 Melanoma(8;187 585 15745 40864 52829) NA 20 66 0 0 0.004672 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881259 33881259 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:33881259C>A uc003jia.1 - 2 617 c.454G>T c.(454-456)GTT>TTT p.V152F ADAMTS12_uc010iuq.1_Missense_Mutation_p.V152F|ADAMTS12_uc003jib.1_Missense_Mutation_p.V152F NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 152 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GCCGTCCCAACTCTGGTGCCC 0.587 NA HNSCC(64;0.19) 20 144 1.87028e-06 2.00158e-06 0.001882 1 0 C9 735 broad.mit.edu 37 5 39331837 39331837 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:39331837C>T uc003jlv.3 - 5 645 c.556G>A c.(556-558)GAT>AAT p.D186N NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 186 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTGTTTCCATCCCGATCCCGG 0.438 NA 46 201 0 0 0.00361 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41012727 41012727 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:41012727C>T uc003jmj.3 - 30 3583 c.3093G>A c.(3091-3093)ATG>ATA p.M1031I HEATR7B2_uc003jmi.3_Missense_Mutation_p.M586I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1031 HEAT 11. binding ovary(6)|central_nervous_system(2) 8 GGACAGTGATCATCCATATGC 0.458 NA 18 65 0 0 0.006122 0 0 HCN1 348980 broad.mit.edu 37 5 45645327 45645327 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:45645327C>T uc003jok.2 - 2 834 c.809G>A c.(808-810)CGA>CAA p.R270Q NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 270 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CCTTGAAAGTCGTAATAAACG 0.328 NA 9 23 0 0 0.006214 0 0 MAST4 375449 broad.mit.edu 37 5 66449351 66449351 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:66449351C>G uc003jut.1 + 25 3092 c.3024C>G c.(3022-3024)ATC>ATG p.I1008M MAST4_uc003juw.2_Missense_Mutation_p.I936M NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1200 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TCACTCACATCAATGGAGAAC 0.453 NA 2 7 0 0 0.004672 0 0 MARVELD2 153562 broad.mit.edu 37 5 68728870 68728870 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:68728870G>C uc003jwq.2 + 5 1512 c.1453G>C c.(1453-1455)GAG>CAG p.E485Q MARVELD2_uc010ixf.2_Missense_Mutation_p.E473Q|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 485 Potential.|Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) GAAGTTTGATGAGCTGGATGC 0.473 NA 52 62 0 0 0.00361 0 0 FAM169A 26049 broad.mit.edu 37 5 74109750 74109750 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:74109750C>G uc003kdm.2 - 6 628 c.585G>C c.(583-585)GGG>GGC p.G195G FAM169A_uc010izm.2_Intron|FAM169A_uc003kdl.2_Silent_p.G13G NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 195 0 GCATGTGAAGCCCAAAATCTT 0.408 NA 4 78 0 0 0.000602 0 0 CMYA5 202333 broad.mit.edu 37 5 79084793 79084793 + Splice_Site SNP G G C rs57346823 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:79084793G>C uc003kgc.2 + 10 11628 c.11556_splice c.e10-1 p.R3852_splice NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTTGTATTTAGATCTTTCTCT 0.333 NA 19 13 0 0 0.010504 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175601 140175601 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140175601C>T uc003lhd.2 + 1 1158 c.1052C>T c.(1051-1053)TCA>TTA p.S351L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.S351L|PCDHA2_uc011czy.1_Missense_Mutation_p.S351L NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 351 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGAAGTCTCAATAACGTCT 0.453 NA 21 41 0 0 0.00278 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202977 140202977 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140202977G>C uc003lhl.2 + 1 1617 c.1617G>C c.(1615-1617)GCG>GCC p.A539A 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_Silent_p.A539A|PCDHA5_uc003lhj.1_Silent_p.A539A NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 539 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGACGCGGGCGTGCCGC 0.692 NA 43 59 0 0 0.00361 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216280 140216280 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140216280C>T uc003lhq.2 + 1 2312 c.2312C>T c.(2311-2313)GCC>GTC p.A771V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A771V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 771 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCTCATGGCCTTCAGTCCC 0.522 NSCLC(160;258 2013 5070 22440 28951) NA 16 42 0 0 0.008871 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222831 140222831 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140222831C>G uc003lhs.2 + 1 1925 c.1925C>G c.(1924-1926)TCT>TGT p.S642C 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_uc003lhr.1_Missense_Mutation_p.S642C NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 642 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGCGGACTCTCCGCGCCAC 0.657 NA 57 139 0 0 0.00361 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140389491 140389491 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140389491G>T uc003lii.2 + 4 3233 c.2993G>T c.(2992-2994)GGG>GTG p.G998V PCDHA1_uc003lha.2_Missense_Mutation_p.G677V|PCDHA1_uc003lhb.2_Missense_Mutation_p.G941V|PCDHA2_uc003lhd.2_Missense_Mutation_p.G939V|PCDHA3_uc003lhf.2_Missense_Mutation_p.G941V|PCDHA4_uc003lhi.2_Missense_Mutation_p.G938V|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Missense_Mutation_p.G927V|PCDHA6_uc003lhn.2_Missense_Mutation_p.G677V|PCDHA6_uc003lho.2_Missense_Mutation_p.G941V|PCDHA7_uc003lhq.2_Missense_Mutation_p.G928V|PCDHA8_uc003lhs.2_Missense_Mutation_p.G941V|PCDHA9_uc003lhu.2_Missense_Mutation_p.G941V|PCDHA10_uc003lhw.2_Missense_Mutation_p.G676V|PCDHA10_uc003lhx.2_Missense_Mutation_p.G939V|PCDHA11_uc003lia.2_Missense_Mutation_p.G940V|PCDHA12_uc003lic.2_Missense_Mutation_p.G932V|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Missense_Mutation_p.G941V|PCDHAC1_uc003lih.2_Missense_Mutation_p.G954V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 998 Cytoplasmic (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) AAAGAGAAAGGGAACAGCACG 0.348 Melanoma(190;638 2083 3390 11909 52360) NA 25 77 4.72057e-08 5.1896e-08 0.003954 1 0 PCDHB7 56129 broad.mit.edu 37 5 140552615 140552615 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140552615G>T uc003lit.2 + 1 373 c.199G>T c.(199-201)GTT>TTT p.V67F NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 67 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACTAGAATTGTTTCAGACCA 0.483 NA 18 46 2.4624e-09 2.75563e-09 0.008871 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559546 140559546 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140559546T>A uc011dai.1 + 1 2117 c.1931T>A c.(1930-1932)CTG>CAG p.L644Q PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 644 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTGGTGCTGGTCAAGGAC 0.697 NA 33 31 0 0 0.004289 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725741 140725741 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140725741T>A uc003ljm.1 + 1 2141 c.2141T>A c.(2140-2142)CTC>CAC p.L714H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L474H|PCDHGA3_uc011dap.1_Missense_Mutation_p.L714H NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 714 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGGCGCTCAGGCTGCGG 0.682 NA 28 89 0 0 0.00361 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741192 140741192 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:140741192A>T uc003ljs.1 + 1 1490 c.1490A>T c.(1489-1491)AAG>ATG p.K497M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.K497M|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 497 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGACCTGAAGCCGCGGGAG 0.612 NA 27 29 0 0 0.002096 0 0 PCDH1 5097 broad.mit.edu 37 5 141236903 141236903 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:141236903C>A uc003llp.2 - 4 3350 c.3233G>T c.(3232-3234)CGA>CTA p.R1078L NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGGACCGAGTCGAGGCCCTGA 0.627 Ovarian(132;1609 1739 4190 14731 45037) NA 21 34 6.21321e-17 7.50398e-17 0.00278 1 0 TCOF1 6949 broad.mit.edu 37 5 149758943 149758943 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:149758943G>T uc003lry.2 + 16 2738 c.2630G>T c.(2629-2631)AGT>ATT p.S877I TCOF1_uc003lrw.2_Missense_Mutation_p.S877I|TCOF1_uc011dch.1_Missense_Mutation_p.S877I|TCOF1_uc003lrz.2_Missense_Mutation_p.S877I|TCOF1_uc003lrx.2_Missense_Mutation_p.S800I|TCOF1_uc003lsa.2_Missense_Mutation_p.S800I|TCOF1_uc011dci.1_Intron NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 877 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGTCAGACAGTGAGGAGGAG 0.607 NA 15 29 5.01169e-05 5.28114e-05 0.00499 1 0 SAP30L 79685 broad.mit.edu 37 5 153833008 153833008 + Missense_Mutation SNP G G T rs148495748 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:153833008G>T uc003lvk.2 + 3 1019 c.371G>T c.(370-372)CGA>CTA p.R124L SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.R83L|SAP30L_uc011ddd.1_Missense_Mutation_p.R78L NM_024632 NP_078908 Q9HAJ7 SP30L_HUMAN SAP30-like isoform 1 124 RRYKRHYK->AAAAAAAA: Abolishes nucleolar localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|metal ion binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CGTTATAAACGACACTACAAG 0.483 NA 39 61 1.8453e-21 2.30578e-21 0.002522 1 0 MRPL22 29093 broad.mit.edu 37 5 154346452 154346452 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:154346452C>G uc003lvy.3 + 7 654 c.616C>G c.(616-618)CTA>GTA p.L206V MRPL22_uc003lvz.3_Missense_Mutation_p.L126V NM_014180 NP_054899 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 isoform a 206 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTTCACACTCTATGATGAGG 0.433 NA 4 4 0 0 0.000602 0 0 KIF4B 285643 broad.mit.edu 37 5 154394711 154394711 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:154394711A>T uc010jih.1 + 1 1452 c.1292A>T c.(1291-1293)AAC>ATC p.N431I NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 431 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAAAAACTGAACGCCAAGCTA 0.453 NA 32 65 0 0 0.004878 0 0 HAVCR1 26762 broad.mit.edu 37 5 156464271 156464271 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:156464271G>A uc010jij.1 - 7 1124 c.939C>T c.(937-939)GTC>GTT p.V313V HAVCR1_uc011ddl.1_Silent_p.V144V|HAVCR1_uc003lwi.2_Silent_p.V313V NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 308 Helical; (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGCAATGATGACACCCAAAA 0.328 NA 41 92 0 0 0.00361 0 0 ADAM19 8728 broad.mit.edu 37 5 156920137 156920137 + Silent SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:156920137G>C uc003lwz.2 - 16 1816 c.1752C>G c.(1750-1752)CCC>CCG p.P584P ADAM19_uc003lww.1_Silent_p.P317P|ADAM19_uc003lwy.2_Silent_p.P183P|ADAM19_uc011ddr.1_Silent_p.P515P NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 584 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGACTCCAGGGGCCGGGCCT 0.597 NA 33 105 0 0 0.00874 0 0 EBF1 1879 broad.mit.edu 37 5 158267057 158267057 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:158267057G>A uc010jip.2 - 7 918 c.616C>T c.(616-618)CGT>TGT p.R206C EBF1_uc011ddw.1_Missense_Mutation_p.R73C|EBF1_uc011ddx.1_Missense_Mutation_p.R206C|EBF1_uc003lxl.3_Missense_Mutation_p.R183C NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 206 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGCATGTCACGTGGGTTTCCC 0.383 NA T HMGA2 lipoma 21 64 0 0 0.00333 0 0 ATP10B 23120 broad.mit.edu 37 5 160047577 160047578 + Missense_Mutation DNP GG GG CC TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:160047577_160047578GG>CC uc003lym.1 - 15 3039_3040 c.2192_2193CC>GG c.(2191-2193)GCC>GGG p.A731G ATP10B_uc010jit.1_Missense_Mutation_p.A48G|ATP10B_uc003lyn.2_Missense_Mutation_p.A289G NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 731 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTAGGCATGGGCAGCGTGCAC 0.649 NA 15 38 0 0 0.004672 0 0 FBLL1 345630 broad.mit.edu 37 5 167957247 167957247 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:167957247C>G uc011dep.1 + 1 666 c.453C>G c.(451-453)TTC>TTG p.F151L NR_024356 RecName: Full=rRNA/tRNA 2'-O-methyltransferase fibrillarin-like protein 1; EC=2.1.1.-; 0 ACGTGATCTTCGCCGACGTGG 0.627 NA 13 40 0 0 0.007413 0 0 STC2 8614 broad.mit.edu 37 5 172745196 172745196 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:172745196G>A uc003mco.1 - 4 1873 c.563C>T c.(562-564)GCC>GTC p.A188V STC2_uc003mcn.1_Missense_Mutation_p.A103V NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 188 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GTGGGTGATGGCCTCCTTCAC 0.502 NA 10 27 0 0 0.001368 0 0 IRF4 3662 broad.mit.edu 37 6 401593 401593 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:401593G>C uc003msz.3 + 7 1028 c.915G>C c.(913-915)GAG>GAC p.E305D IRF4_uc010jne.1_Missense_Mutation_p.E305D|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.E304D|IRF4_uc003mtc.1_Missense_Mutation_p.E135D NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 305 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AAAACATTGAGAAGCTGCTGA 0.602 NA T IGH@ MM 17 26 0 0 0.007413 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987073 7987073 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:7987073G>A uc003mxx.3 + 1 739 c.304G>A c.(304-306)GTG>ATG p.V102M TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 AGATTTCTACGTGGTGGAGAG 0.522 NA 21 46 0 0 0.003954 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197311 26197311 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:26197311C>T uc003ngv.2 - 2 565 c.168G>A c.(166-168)CAG>CAA p.Q56Q HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 56 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CGGTCGACTTCTGGTAGCGGC 0.632 GBM(108;3816 4467) NA 16 79 0 0 0.003954 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27114968 27114968 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:27114968C>G uc003niz.2 + 1 61 c.61C>G c.(61-63)CGG>GGG p.R21G HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 21 nucleosome assembly nucleosome|nucleus DNA binding 0 CCGCTCTTCTCGGGCTGGGCT 0.622 NA 28 79 0 0 0.002096 0 0 OR2B6 26212 broad.mit.edu 37 6 27925535 27925535 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:27925535G>T uc011dkx.1 + 1 517 c.517G>T c.(517-519)GTG>TTG p.V173L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 173 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGACCCCTATGTGATAGATCA 0.483 NA 49 90 7.50695e-29 9.66186e-29 0.00361 1 0 SCAND3 114821 broad.mit.edu 37 6 28540642 28540642 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:28540642C>G uc003nlo.2 - 4 3642 c.3024G>C c.(3022-3024)ATG>ATC p.M1008I NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1008 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 atatttttttcatggcaagac 0 NA 26 68 0 0 0.005443 0 0 DHX16 8449 broad.mit.edu 37 6 30639018 30639018 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:30639018G>T uc003nqz.2 - 2 453 c.241C>A c.(241-243)CGG>AGG p.R81R DHX16_uc011dmo.1_Silent_p.R21R NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 81 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 TCTGCTGCCCGAGCTGGCTTT 0.557 NA 112 282 1.77217e-65 2.36519e-65 0.00361 1 0 TNXB 7148 broad.mit.edu 37 6 32036752 32036752 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:32036752C>A uc003nzl.2 - 16 5951 c.5749G>T c.(5749-5751)GAT>TAT p.D1917Y NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1999 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CCGTCTCTATCTGTGTACTGG 0.552 NA 48 143 1.35996e-42 1.79756e-42 0.00361 1 0 LRFN2 57497 broad.mit.edu 37 6 40400156 40400156 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:40400156G>T uc003oph.1 - 2 1162 c.697C>A c.(697-699)CCA>ACA p.P233T NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 233 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GACAAGGGTGGGGCAAAGGGT 0.602 NA 12 41 0.00010058 0.000105501 0.001368 1 0 KIAA0240 23506 broad.mit.edu 37 6 42797548 42797548 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:42797548C>T uc003osn.1 + 6 1628 c.1477C>T c.(1477-1479)CAG>TAG p.Q493* KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q493*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q493*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q493*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q493* NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 493 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) TGCCTCTCCTCAGCTTGTGGG 0.542 NA 37 94 0 0 0.009718 0 0 PTK7 5754 broad.mit.edu 37 6 43111325 43111325 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:43111325G>A uc003oub.1 + 14 2416 c.2218G>A c.(2218-2220)GAG>AAG p.E740K PTK7_uc003ouc.1_Missense_Mutation_p.E684K|PTK7_uc003oud.1_Missense_Mutation_p.E700K|PTK7_uc003oue.1_Missense_Mutation_p.E610K|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.E748K|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 740 Cytoplasmic (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GAAGCAGCCCGAGGGCGAGGA 0.667 NA OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 17 0 0 0.006214 0 0 TTBK1 84630 broad.mit.edu 37 6 43251427 43251427 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:43251427C>T uc003ouq.1 + 14 3228 c.2949C>T c.(2947-2949)CTC>CTT p.L983L NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 983 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AGAACGGCCTCGCCCTGTCAG 0.682 NA 20 39 0 0 0.008871 0 0 POLR1C 9533 broad.mit.edu 37 6 43488713 43488713 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:43488713C>T uc003ovn.2 + 8 906 c.849C>T c.(847-849)TTC>TTT p.F283F POLR1C_uc003ovo.1_Silent_p.F283F NM_203290 NP_976035 O15160 RPAC1_HUMAN RNA polymerase I subunit isoform 1 283 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) TGGATACCTTCAGCAGAGAAA 0.443 NA 35 80 0 0 0.004289 0 0 C6orf138 442213 broad.mit.edu 37 6 47846746 47846746 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:47846746C>A uc011dwm.1 - 3 1868 c.1783G>T c.(1783-1785)GCC>TCC p.A595S C6orf138_uc011dwn.1_Missense_Mutation_p.A359S NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 612 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CTAGTCCTGGCCACCAGATAC 0.438 NA 17 37 1.15088e-07 1.25717e-07 0.004007 1 0 TFAP2D 83741 broad.mit.edu 37 6 50683113 50683113 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:50683113G>T uc003paf.2 + 2 836 c.324G>T c.(322-324)GGG>GGT p.G108G TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 108 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TCCACCACGGGGAGCCCACCG 0.622 NA 26 59 1.50538e-07 1.63919e-07 0.00632 1 0 PHIP 55023 broad.mit.edu 37 6 79655973 79655973 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:79655973C>T uc003pir.2 - 38 4601 c.4375G>A c.(4375-4377)GAA>AAA p.E1459K PHIP_uc003piq.2_Missense_Mutation_p.E483K|PHIP_uc011dyp.1_Missense_Mutation_p.E1458K|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.E345K NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1459 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTTTCCTTTCAGGGCTGTAA 0.343 NA 31 67 0 0 0.002445 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86346828 86346828 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:86346828C>T uc003pla.2 - 6 1064 c.523G>A c.(523-525)GAG>AAG p.E175K SYNCRIP_uc003pku.2_Missense_Mutation_p.E175K|SYNCRIP_uc003pkw.2_Missense_Mutation_p.E175K|SYNCRIP_uc003pky.2_Missense_Mutation_p.E77K|SYNCRIP_uc003pkv.2_Missense_Mutation_p.E175K|SYNCRIP_uc003pkx.2_Missense_Mutation_p.E23K|SYNCRIP_uc003pkz.2_Missense_Mutation_p.E175K NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 175 RRM 1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AGTTCATCCTCAAATAGATCT 0.363 NA 9 29 0 0 0.006214 0 0 RNGTT 8732 broad.mit.edu 37 6 89388103 89388103 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:89388103C>T uc003pmr.2 - 14 1695 c.1475G>A c.(1474-1476)GGA>GAA p.G492E RNGTT_uc003pms.2_Missense_Mutation_p.G469E|RNGTT_uc011dzu.1_Missense_Mutation_p.G409E|RNGTT_uc003pmt.2_Missense_Mutation_p.G492E NM_003800 NP_003791 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 492 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TTCATAACCTCCAACATACAG 0.323 NA 20 41 0 0 0.004656 0 0 MDN1 23195 broad.mit.edu 37 6 90455280 90455280 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:90455280C>G uc003pnn.1 - 28 4086 c.3970G>C c.(3970-3972)GAG>CAG p.E1324Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1324 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAATGTTTCTCAAGGACTTCT 0.348 NA 19 71 0 0 0.010504 0 0 FIG4 9896 broad.mit.edu 37 6 110056358 110056358 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:110056358G>T uc003ptt.2 + 6 718 c.503G>T c.(502-504)AGC>ATC p.S168I FIG4_uc011eau.1_Missense_Mutation_p.S22I NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 168 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CTCAGTTACAGCTATGATTTG 0.368 NA 24 72 3.08376e-08 3.40654e-08 0.00333 1 0 LAMA4 3910 broad.mit.edu 37 6 112476083 112476083 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:112476083C>T uc003pvu.2 - 16 2335 c.2026G>A c.(2026-2028)GCC>ACC p.A676T LAMA4_uc003pvv.2_Missense_Mutation_p.A669T|LAMA4_uc003pvt.2_Missense_Mutation_p.A669T NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 676 Domain II and I.|Potential. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGTTCTCTGGCTTGATTGAGG 0.398 NA 22 78 0 0 0.004656 0 0 LAMA4 3910 broad.mit.edu 37 6 112476086 112476086 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:112476086G>A uc003pvu.2 - 16 2332 c.2023C>T c.(2023-2025)CAA>TAA p.Q675* LAMA4_uc003pvv.2_Nonsense_Mutation_p.Q668*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.Q668* NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 675 Domain II and I.|Potential. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTCTGGCTTGATTGAGGAGG 0.398 NA 22 77 0 0 0.004656 0 0 THEMIS 387357 broad.mit.edu 37 6 128134640 128134640 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:128134640G>T uc003qbi.2 - 5 1465 c.1146C>A c.(1144-1146)TCC>TCA p.S382S THEMIS_uc010kfa.2_Silent_p.S285S|THEMIS_uc011ebt.1_Silent_p.S382S|THEMIS_uc010kfb.2_Silent_p.S347S NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 382 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 CAACAGATACGGATGACAGCT 0.488 NA 22 45 2.79863e-10 3.16809e-10 0.004656 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135263570 135263570 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:135263570G>A uc003qew.2 - 3 472 c.419C>T c.(418-420)ACG>ATG p.T140M ALDH8A1_uc003qex.2_Missense_Mutation_p.T140M|ALDH8A1_uc010kgh.2_Translation_Start_Site|ALDH8A1_uc011ecx.1_Missense_Mutation_p.T140M NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 140 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) GGCCCGCACCGTGTAGTGCAT 0.582 NA 30 68 0 0 0.002836 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597195 136597195 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:136597195C>A uc003qgx.1 - 5 1721 c.1468G>T c.(1468-1470)GTA>TTA p.V490L BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.V488L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.V488L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 490 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTTTCTTTACTGTTATTCTT 0.368 Colon(142;1534 1789 5427 7063 28491) NA 22 130 7.41877e-09 8.24843e-09 0.001882 1 0 TXLNB 167838 broad.mit.edu 37 6 139609632 139609632 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:139609632C>A uc011eds.1 - 2 570 c.405G>T c.(403-405)AAG>AAT p.K135N NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 135 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TTAGGATTTTCTTTTCCAATT 0.408 NA 28 77 4.74835e-14 5.54918e-14 0.002096 1 0 FBXO5 26271 broad.mit.edu 37 6 153296105 153296105 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:153296105C>T uc003qpg.2 - 2 864 c.755G>A c.(754-756)CGA>CAA p.R252Q FBXO5_uc003qph.2_Missense_Mutation_p.R206Q NM_012177 NP_036309 Q9UKT4 FBX5_HUMAN F-box only protein 5 isoform a 252 F-box. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) GAGTCCCCTTCGAAAGAGTTC 0.358 NSCLC(121;372 1757 17721 17977 29669) NA 35 72 0 0 0.00874 0 0 TFB1M 51106 broad.mit.edu 37 6 155606413 155606413 + Splice_Site SNP T T C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:155606413T>C uc003qqj.3 - 5 611 c.547_splice c.e5-1 p.R183_splice TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TGCAAGTCTCTAGAGAGAGAC 0.398 NA 11 21 0 0 0.008291 0 0 PSMB1 5689 broad.mit.edu 37 6 170846376 170846376 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:170846376G>A uc011ehe.1 - 5 573 c.486C>T c.(484-486)TCC>TCT p.S162S PSMB1_uc003qxq.2_RNA|PSMB1_uc003qxr.2_Silent_p.S61S NM_002793 NP_002784 P20618 PSB1_HUMAN proteasome beta 1 subunit precursor 162 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) CAGCCTTGAAGGAGTCTCTCT 0.453 NA 22 39 0 0 0.004656 0 0 CARD11 84433 broad.mit.edu 37 7 2954905 2954905 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:2954905C>G uc003smv.2 - 21 3209 c.2805G>C c.(2803-2805)CTG>CTC p.L935L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 935 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGGTGGCGTCCAGCGAGGACC 0.627 NA Mis DLBCL 72 43 0 0 0.00361 0 0 GLCCI1 113263 broad.mit.edu 37 7 8095167 8095167 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:8095167C>G uc003srk.2 + 4 1360 c.801C>G c.(799-801)ATC>ATG p.I267M NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 267 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) ATATAACAATCAGTCACACTC 0.398 NA 76 43 0 0 0.00361 0 0 PHF14 9678 broad.mit.edu 37 7 11068308 11068308 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:11068308G>C uc003sry.1 + 7 1753 c.1318G>C c.(1318-1320)GAG>CAG p.E440Q PHF14_uc011jxi.1_Missense_Mutation_p.E155Q|PHF14_uc003srz.2_Missense_Mutation_p.E440Q|PHF14_uc011jxj.1_Missense_Mutation_p.E155Q NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 440 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TTTGTTGTAGGAGTGTAGCTT 0.393 NA 15 8 0 0 0.006122 0 0 SP4 6671 broad.mit.edu 37 7 21469387 21469387 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:21469387G>A uc003sva.2 + 3 785 c.604G>A c.(604-606)GGT>AGT p.G202S SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 202 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 CATTTCTGCAGGTAATAATCA 0.418 NA 54 281 0 0 0.00361 0 0 MPP6 51678 broad.mit.edu 37 7 24690293 24690293 + Missense_Mutation SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:24690293A>T uc003swx.2 + 6 912 c.613A>T c.(613-615)ATC>TTC p.I205F MPP6_uc003swy.2_Missense_Mutation_p.I205F NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 205 PDZ. protein complex assembly protein binding 0 CACCCTAAAAATCTTACCAAG 0.303 NA 58 70 0 0 0.00361 0 0 NFE2L3 9603 broad.mit.edu 37 7 26224622 26224622 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:26224622C>G uc003sxq.2 + 4 1576 c.1304C>G c.(1303-1305)TCT>TGT p.S435C NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 435 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 GTCATCAAGTCTAATTCCTCT 0.403 NA 36 222 0 0 0.004878 0 0 HOXA3 3200 broad.mit.edu 37 7 27149900 27149900 + Silent SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:27149900C>A uc011jzl.1 - 2 560 c.360G>T c.(358-360)CCG>CCT p.P120P HOXA3_uc011jzk.1_Splice_Site|HOXA3_uc003syk.2_Silent_p.P120P NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 120 Pro-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 AAGAGggaggcgggggcgcgg 0.299 Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 13 55 1.62849e-17 1.97725e-17 0.004007 1 0 POU6F2 11281 broad.mit.edu 37 7 39125535 39125535 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:39125535G>A uc003thb.1 + 2 136 c.94G>A c.(94-96)GAG>AAG p.E32K POU6F2_uc010kxo.2_Missense_Mutation_p.E24K NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 32 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GTTGAGAGGTGAGGACAAGGC 0.527 NA 13 45 0 0 0.006122 0 0 GRB10 2887 broad.mit.edu 37 7 50671734 50671735 + Missense_Mutation DNP TC TC AT TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:50671734_50671735TC>AT uc003tpi.2 - 14 1535_1536 c.1504_1505GA>AT c.(1504-1506)GAA>ATA p.E502I GRB10_uc003tph.3_Missense_Mutation_p.E444I|GRB10_uc003tpj.2_Missense_Mutation_p.E456I|GRB10_uc003tpk.2_Missense_Mutation_p.E502I|GRB10_uc010kzb.2_Missense_Mutation_p.E444I|GRB10_uc003tpl.2_Missense_Mutation_p.E496I|GRB10_uc003tpm.2_Missense_Mutation_p.E444I|GRB10_uc003tpn.2_Missense_Mutation_p.E444I NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 502 SH2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) CCTGTGGGATTCCTCCCTGGAG 0.47 NA Russell-Silver_syndrome 70 223 0 0 0.004672 0 0 EGFR 1956 broad.mit.edu 37 7 55211028 55211028 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:55211028A>G uc003tqk.2 + 3 517 c.271A>G c.(271-273)ATT>GTT p.I91V EGFR_uc003tqh.2_Missense_Mutation_p.I91V|EGFR_uc003tqi.2_Missense_Mutation_p.I91V|EGFR_uc003tqj.2_Missense_Mutation_p.I91V|EGFR_uc010kzg.1_Missense_Mutation_p.I91V|EGFR_uc011kco.1_Missense_Mutation_p.I38V NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 91 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.I91L(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTATGTCCTCATTGCCCTCAA 0.413 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 95 0 0 0.006999 0 0 EGFR 1956 broad.mit.edu 37 7 55269468 55269468 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:55269468G>T uc003tqk.2 + 26 3401 c.3155G>T c.(3154-3156)AGA>ATA p.R1052I EGFR_uc010kzg.1_Missense_Mutation_p.R1007I|EGFR_uc011kco.1_Missense_Mutation_p.R999I NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 1052 Cytoplasmic (Potential).|Ser-rich. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCATTGATAGAAATGGGGTA 0.398 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 48 156 1.13205e-32 1.47921e-32 0.00361 1 0 ELN 2006 broad.mit.edu 37 7 73470702 73470702 + Missense_Mutation SNP G G T rs142438174 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:73470702G>T uc003tzw.2 + 20 1343 c.1252G>T c.(1252-1254)GCA>TCA p.A418S RFC2_uc011kfa.1_Intron|ELN_uc011kfe.1_Missense_Mutation_p.A387S|ELN_uc003tzn.2_Missense_Mutation_p.A418S|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Missense_Mutation_p.A404S|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Missense_Mutation_p.A301S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.A418S|ELN_uc003tzt.2_Missense_Mutation_p.A423S|ELN_uc003tzu.2_Missense_Mutation_p.A423S|ELN_uc003tzv.2_Missense_Mutation_p.A408S|ELN_uc003tzx.2_Missense_Mutation_p.A408S|ELN_uc011kff.1_Missense_Mutation_p.A418S|ELN_uc003tzy.2_Missense_Mutation_p.A413S NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 418 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding p.A418T(1) ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) CCCTGGAGTCGCAGGTGTCCC 0.627 NA T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 63 170 1.26778e-28 1.62865e-28 0.00361 1 0 SLC25A40 55972 broad.mit.edu 37 7 87471013 87471013 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:87471013G>C uc003uje.2 - 10 1109 c.758C>G c.(757-759)ACT>AGT p.T253S NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 253 Helical; Name=5; (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) AAATGGTAAAGTTGCAACAGC 0.239 NA 8 33 0 0 0.000978 0 0 CALCR 799 broad.mit.edu 37 7 93067425 93067425 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:93067425C>G uc003umv.1 - 12 1240 c.979G>C c.(979-981)GTG>CTG p.V327L CALCR_uc011kia.1_Missense_Mutation_p.V107L|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.V293L|CALCR_uc003umw.2_Missense_Mutation_p.V293L NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 309 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGGGTTTCCACACTCAGCCAG 0.348 NA 14 60 0 0 0.010504 0 0 LMTK2 22853 broad.mit.edu 37 7 97822874 97822874 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:97822874G>A uc003upd.1 + 11 3390 c.3097G>A c.(3097-3099)GAA>AAA p.E1033K NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 1033 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGTGGCTACGAAACAGAGAA 0.607 NA 25 84 0 0 0.007291 0 0 SRRT 51593 broad.mit.edu 37 7 100485997 100485997 + Missense_Mutation SNP C C T rs139519950 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:100485997C>T uc003uwy.2 + 20 2816 c.2548C>T c.(2548-2550)CGC>TGC p.R850C SRRT_uc010lhl.1_Missense_Mutation_p.R849C|SRRT_uc003uxa.2_Missense_Mutation_p.R845C|SRRT_uc003uwz.2_Missense_Mutation_p.R846C|uc010lhm.1_5'Flank NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 850 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 TGGGAAACCTCGCAACAGGTG 0.602 NA 3 33 0 0 0.004672 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102047917 102047917 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:102047917G>A uc003uzh.2 + 5 484 c.429G>A c.(427-429)AAG>AAA p.K143K PRKRIP1_uc003uzf.2_Silent_p.K92K|PRKRIP1_uc003uzg.2_Silent_p.K92K|PRKRIP1_uc011kkq.1_Silent_p.K86K|PRKRIP1_uc011kkr.1_Intron|MIR548O_hsa-mir-548o|MI0006402_5'Flank NM_024653 NP_078929 Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 143 Potential.|Required for RNA-binding (By similarity). nucleolus ovary(1) 1 TGGCAAAGAAGATGAAACTTG 0.348 NA 12 48 0 0 0.00245 0 0 RELN 5649 broad.mit.edu 37 7 103368615 103368615 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:103368615G>A uc003vca.2 - 7 856 c.696C>T c.(694-696)GGC>GGT p.G232G RELN_uc010liz.2_Silent_p.G232G NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 232 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCATAATCGCGCCACACTGTT 0.448 NSCLC(146;835 1944 15585 22231 52158) NA 50 67 0 0 0.00361 0 0 DOCK4 9732 broad.mit.edu 37 7 111379217 111379217 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:111379217G>A uc003vfx.2 - 48 5447 c.5178C>T c.(5176-5178)ATC>ATT p.I1726I DOCK4_uc011kml.1_Silent_p.I607I|DOCK4_uc011kmm.1_Silent_p.I633I|DOCK4_uc003vfw.2_Silent_p.I1176I|DOCK4_uc003vfy.2_Silent_p.I1771I|DOCK4_uc003vfv.2_Silent_p.I39I NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1726 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) GTGTTGGATAGATGGCACTGC 0.463 NA 26 81 0 0 0.002445 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518041 113518041 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:113518041G>T uc010ljy.1 - 4 3137 c.3106C>A c.(3106-3108)CAA>AAA p.Q1036K NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1036 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TATAGTGATTGCCCAGAGCTT 0.398 NA 63 180 1.93348e-29 2.49786e-29 0.00361 1 0 AASS 10157 broad.mit.edu 37 7 121726159 121726159 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:121726159C>G uc003vka.2 - 18 2187 c.2091G>C c.(2089-2091)TTG>TTC p.L697F AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L697F|AASS_uc011knw.1_Missense_Mutation_p.L185F NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 697 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) GATAGCCTTCCAAATTTAATC 0.428 NA 20 53 0 0 0.008871 0 0 GPR37 2861 broad.mit.edu 37 7 124404368 124404368 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:124404368C>G uc003vli.2 - 1 1314 c.663G>C c.(661-663)CAG>CAC p.Q221H NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 221 Extracellular (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 AGGATCCATTCTGGGCCAGCG 0.637 NA 23 53 0 0 0.003954 0 0 SND1 27044 broad.mit.edu 37 7 127342491 127342491 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:127342491A>G uc003vmi.2 + 6 818 c.592A>G c.(592-594)ATC>GTC p.I198V NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 198 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TCACACAGCTATCATCGAGCA 0.488 NA 50 138 0 0 0.00361 0 0 FLNC 2318 broad.mit.edu 37 7 128497331 128497331 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:128497331C>A uc003vnz.3 + 46 7930 c.7721C>A c.(7720-7722)GCC>GAC p.A2574D FLNC_uc003voa.3_Missense_Mutation_p.A2541D NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2574 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TACCTCATTGCCATCAAGTAC 0.617 NA 32 47 4.4194e-11 5.04444e-11 0.002836 1 0 KIAA1549 57670 broad.mit.edu 37 7 138579145 138579146 + Missense_Mutation DNP GC GC AA TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:138579145_138579146GC>AA uc011kql.1 - 10 4023_4024 c.3974_3975GC>TT c.(3973-3975)CGC>CTT p.R1325L KIAA1549_uc011kqi.1_Missense_Mutation_p.R109L|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1275L|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1325L|KIAA1549_uc011kqk.1_Missense_Mutation_p.R109L NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1325 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GCTTGTCTGTGCGGCATAGTTT 0.52 NSCLC(119;1534 1718 44213 46230 50068) NA O BRAF pilocytic astrocytoma 46 169 0 0 0.004672 0 0 OR2F2 135948 broad.mit.edu 37 7 143632716 143632716 + Nonsense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:143632716C>T uc011ktv.1 + 1 391 c.391C>T c.(391-393)CGA>TGA p.R131* NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TGACCGCCTGCGATACTCGGC 0.552 NA 36 107 0 0 0.004878 0 0 SSPO 23145 broad.mit.edu 37 7 149495214 149495214 + Splice_Site SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:149495214G>T uc010lpk.2 + 48 6961 c.6961_splice c.e48+1 p.E2321_splice NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCCCGACAGGTGTGTGCACA 0.652 NA 69 94 1.78623e-52 2.37472e-52 0.00361 1 0 SMARCD3 6604 broad.mit.edu 37 7 150939586 150939586 + Missense_Mutation SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:150939586T>G uc003wjs.2 - 5 661 c.560A>C c.(559-561)GAG>GCG p.E187A SMARCD3_uc003wjt.2_Missense_Mutation_p.E174A|SMARCD3_uc003wju.2_Missense_Mutation_p.E174A|SMARCD3_uc011kvh.1_Missense_Mutation_p.E187A|SMARCD3_uc010lqa.1_Missense_Mutation_p.E187A NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 187 cellular lipid metabolic process|chromatin modification|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 nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCTTCCCCTCCACCCGTAG 0.577 NA 67 54 0 0 0.00361 0 0 MLL3 58508 broad.mit.edu 37 7 151932917 151932917 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:151932917A>G uc003wla.2 - 16 2973 c.2754T>C c.(2752-2754)GCT>GCC p.A918A MLL3_uc003wkz.2_5'UTR NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 918 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GTAATACAACAGCTCCGATTC 0.468 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 31 214 0 0 0.009718 0 0 MLL3 58508 broad.mit.edu 37 7 151945009 151945009 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:151945009G>T uc003wla.2 - 14 2729 c.2510C>A c.(2509-2511)CCT>CAT p.P837H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 837 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGGTCTACCAGGAGAAAATTT 0.373 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 15 207 1.55795e-14 1.83634e-14 0.001882 1 0 MLL3 58508 broad.mit.edu 37 7 151962220 151962220 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:151962220C>G uc003wla.2 - 8 1306 c.1087G>C c.(1087-1089)GGT>CGT p.G363R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 363 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TAGTGCTGACCACAAGTAGTA 0.448 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 16 516 0 0 0.001882 0 0 MNX1 3110 broad.mit.edu 37 7 156799175 156799175 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:156799175G>C uc003wnd.1 - 2 1153 c.850C>G c.(850-852)CAG>GAG p.Q284E MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.Q77E|MNX1_uc003wnc.1_Missense_Mutation_p.Q72E|MNX1_uc010lqr.1_Intron NM_005515 NP_005506 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 isoform 1 284 Homeobox. humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCGCGCACCTGGGTCTCGGTG 0.662 NA Currarino_syndrome 13 21 0 0 0.00499 0 0 VIPR2 7434 broad.mit.edu 37 7 158829540 158829540 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr7:158829540G>T uc003woh.2 - 7 837 c.651C>A c.(649-651)TTC>TTA p.F217L VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 217 Helical; Name=3; (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) GCAGCCAGAAGAAGTTGGCCA 0.587 Pancreas(154;1876 1931 2329 17914 20079) NA 22 65 7.33532e-06 7.78952e-06 0.003954 1 0 DEFB4A 1673 broad.mit.edu 37 8 7752238 7752238 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:7752238A>G uc003wsd.2 + 1 40 c.4A>G c.(4-6)AGG>GGG p.R2G NM_004942 NP_004933 O15263 DFB4A_HUMAN defensin, beta 4 precursor 2 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response extracellular region 0 ATCAGCCATGAGGGTCTTGTA 0.527 Ovarian(105;1718 2131 4132 11552) NA 7 112 0 0 0.008291 0 0 PCM1 5108 broad.mit.edu 37 8 17796323 17796323 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:17796323G>A uc003wyi.3 + 5 839 c.417G>A c.(415-417)AAG>AAA p.K139K PCM1_uc011kyh.1_Silent_p.K139K|PCM1_uc003wyj.3_Silent_p.K139K|PCM1_uc003wyg.2_Silent_p.K139K|PCM1_uc003wyh.2_Silent_p.K139K|PCM1_uc010lta.1_Silent_p.K139K NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 139 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) AAAACCGAAAGCCCTTCAACT 0.393 NA T RET|JAK2 papillary thyroid|CML|MPD 11 21 0 0 0.00245 0 0 UNC5D 137970 broad.mit.edu 37 8 35606111 35606111 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:35606111C>G uc003xjr.1 + 12 2161 c.1833C>G c.(1831-1833)ATC>ATG p.I611M UNC5D_uc003xjs.1_Missense_Mutation_p.I606M|UNC5D_uc003xju.1_Missense_Mutation_p.I187M NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 611 ZU5.|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) CAGACATGATCGTCACCACTC 0.493 NA 38 45 0 0 0.007835 0 0 GPR124 25960 broad.mit.edu 37 8 37688280 37688280 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:37688280G>A uc003xkj.2 + 7 1134 c.771G>A c.(769-771)GTG>GTA p.V257V GPR124_uc010lvy.2_Silent_p.V257V NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 257 Extracellular (Potential).|Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TACGCCAAGTGGTGTTCCAGG 0.657 NA 8 20 0 0 0.004482 0 0 GPR124 25960 broad.mit.edu 37 8 37691560 37691560 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:37691560G>A uc003xkj.2 + 11 1885 c.1522G>A c.(1522-1524)GAG>AAG p.E508K GPR124_uc010lvy.2_Missense_Mutation_p.E508K NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 508 Extracellular (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCCCAGCGCGAGGACAAGGC 0.662 NA 46 98 0 0 0.002522 0 0 IKBKB 3551 broad.mit.edu 37 8 42166509 42166509 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:42166509C>T uc003xow.1 + 8 835 c.658C>T c.(658-660)CGG>TGG p.R220W IKBKB_uc003xov.2_Missense_Mutation_p.R220W|IKBKB_uc010lxh.1_Missense_Mutation_p.R115W|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.R218W|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.R161W NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 220 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CACGGGCTTCCGGCCCTTCCT 0.627 NA 53 145 0 0 0.00361 0 0 CHD7 55636 broad.mit.edu 37 8 61734601 61734601 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:61734601G>A uc003xue.2 + 11 3331 c.2854G>A c.(2854-2856)GAT>AAT p.D952N CHD7_uc003xuf.2_Missense_Mutation_p.D65N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 952 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCTGCTGATGATTGGAAGAA 0.388 NA 12 42 0 0 0.001855 0 0 CLVS1 157807 broad.mit.edu 37 8 62412051 62412051 + Missense_Mutation SNP G G A rs35623706 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:62412051G>A uc003xuh.2 + 6 1339 c.1015G>A c.(1015-1017)GAG>AAG p.E339K CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Silent_p.*260* NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 339 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CCTGAAACATGAGGAGAAGGG 0.498 NA 19 67 0 0 0.002299 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509386 65509386 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:65509386C>T uc003xvj.2 - 6 1538 c.1334G>A c.(1333-1335)GGA>GAA p.G445E NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 445 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TTTGCTGGTTCCAGTTCCAAA 0.323 NA 15 33 0 0 0.00499 0 0 TRPA1 8989 broad.mit.edu 37 8 72936057 72936057 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:72936057C>T uc003xza.2 - 26 3316 c.3141G>A c.(3139-3141)CAG>CAA p.Q1047Q uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1047 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ACCGGTATTTCTGCTTTAATA 0.259 NA 26 51 0 0 0.004656 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617343 77617343 + Missense_Mutation SNP A A C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:77617343A>C uc003yav.2 + 2 1407 c.1020A>C c.(1018-1020)AAA>AAC p.K340N ZFHX4_uc003yat.1_Missense_Mutation_p.K340N|ZFHX4_uc003yau.1_Missense_Mutation_p.K340N|ZFHX4_uc003yaw.1_Missense_Mutation_p.K340N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 340 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACCAAAAAAATCCACTTCTG 0.433 NA HNSCC(33;0.089) 23 57 0 0 0.003954 0 0 LRRCC1 85444 broad.mit.edu 37 8 86039068 86039068 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:86039068G>A uc003ycw.2 + 9 1571 c.1417G>A c.(1417-1419)GAT>AAT p.D473N LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.D174N|LRRCC1_uc003ycx.2_Missense_Mutation_p.D380N|LRRCC1_uc003ycy.2_Missense_Mutation_p.D453N NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 473 Potential. cell division|mitosis centriole|nucleus 0 ACTTACCACAGATAGGTAAAA 0.338 NA 20 44 0 0 0.010504 0 0 KIAA1429 25962 broad.mit.edu 37 8 95541319 95541319 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:95541319C>T uc003ygo.1 - 7 872 c.859G>A c.(859-861)GAA>AAA p.E287K KIAA1429_uc003ygp.2_Missense_Mutation_p.E287K|KIAA1429_uc010maz.1_5'Flank NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 287 Glu-rich. mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) tcatcctcttcaccttcttcc 0.244 NA 9 29 0 0 0.008291 0 0 INTS8 55656 broad.mit.edu 37 8 95884155 95884155 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:95884155G>C uc003yhb.2 + 21 2584 c.2458G>C c.(2458-2460)GAG>CAG p.E820Q INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.E647Q NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 820 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) CACAGTGAAAGAGCTAGTTCG 0.348 NA 22 44 0 0 0.002299 0 0 RSPO2 340419 broad.mit.edu 37 8 109001460 109001460 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:109001460G>A uc003yms.2 - 3 765 c.107C>T c.(106-108)TCA>TTA p.S36L RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 36 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) AATGGGATTTGATACATAACT 0.353 NA 20 48 0 0 0.001882 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110397764 110397764 + Splice_Site SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:110397764A>T uc003yne.2 + 6 580 c.476_splice c.e6-2 p.G159_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTTTGTTTTCAGGTACACTAA 0.249 NA HNSCC(38;0.096) 4 16 0 0 0.000602 0 0 ASAP1 50807 broad.mit.edu 37 8 131073214 131073214 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:131073214G>C uc003yta.1 - 27 2831 c.2803C>G c.(2803-2805)CCA>GCA p.P935A ASAP1_uc003ysz.1_Missense_Mutation_p.P746A|ASAP1_uc011liw.1_Missense_Mutation_p.P928A NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 935 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TCTCCAGGTGGTGGCTTTTGT 0.547 NA 51 132 0 0 0.00361 0 0 OC90 729330 broad.mit.edu 37 8 133053885 133053885 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:133053885G>A uc003ytg.2 - 3 183 c.183C>T c.(181-183)ATC>ATT p.I61I OC90_uc011lix.1_Silent_p.I77I NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 77 Phospholipase A2-like 1. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGACAAACTGGATCAGCACAG 0.567 NA 14 37 0 0 0.001855 0 0 COL22A1 169044 broad.mit.edu 37 8 139736904 139736904 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:139736904G>T uc003yvd.2 - 25 2648 c.2201C>A c.(2200-2202)CCT>CAT p.P734H COL22A1_uc011ljo.1_Missense_Mutation_p.P34H NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 734 Collagen-like 5.|Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GATCTCTCCAGGCAAACCCTG 0.592 NA HNSCC(7;0.00092) 27 40 2.68265e-12 3.08886e-12 0.002836 1 0 COL22A1 169044 broad.mit.edu 37 8 139839014 139839014 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:139839014G>A uc003yvd.2 - 6 1303 c.856C>T c.(856-858)CCC>TCC p.P286S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 286 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AAACCTTGGGGGAACACATCC 0.522 NA HNSCC(7;0.00092) 11 30 0 0 0.008291 0 0 KCNK9 51305 broad.mit.edu 37 8 140630669 140630669 + Silent SNP G G A rs140285421 TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:140630669G>A uc003yvf.1 - 2 1021 c.957C>T c.(955-957)AGC>AGT p.S319S KCNK9_uc003yvg.1_Silent_p.S319S|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 319 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CAAGCTTGGCGCTGAAGGAGT 0.577 NA 31 67 0 0 0.003755 0 0 DENND3 22898 broad.mit.edu 37 8 142178212 142178212 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:142178212G>A uc003yvy.2 + 13 1901 c.1623G>A c.(1621-1623)CTG>CTA p.L541L DENND3_uc010mep.2_Silent_p.L502L|DENND3_uc003yvz.1_Silent_p.L225L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 541 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCTCCATGCTGAGCGAGGCCA 0.557 NA 46 110 0 0 0.00361 0 0 DMRT3 58524 broad.mit.edu 37 9 977286 977286 + Silent SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:977286A>G uc003zgw.1 + 1 323 c.285A>G c.(283-285)CCA>CCG p.P95P NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 95 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GCGCTCTGCCAGGgcccccgc 0.368 NA 7 21 0 0 0.00308 0 0 RCL1 10171 broad.mit.edu 37 9 4833225 4833225 + Silent SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:4833225G>A uc003zis.2 + 4 714 c.456G>A c.(454-456)CTG>CTA p.L152L RCL1_uc003zit.2_5'UTR|RCL1_uc010mhk.1_5'UTR NM_005772 NP_005763 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 152 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CATTTGAACTGAAGGTAAGAA 0.373 NA 17 84 0 0 0.002299 0 0 RANBP6 26953 broad.mit.edu 37 9 6012838 6012838 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:6012838C>G uc003zjr.2 - 1 2781 c.2770G>C c.(2770-2772)GAT>CAT p.D924H RANBP6_uc011lmf.1_Missense_Mutation_p.D572H|RANBP6_uc003zjs.2_Missense_Mutation_p.D512H NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 924 HEAT 6. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GGGTTGTTATCTCGCATATTT 0.428 NA 12 44 0 0 0.001855 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731084 23731084 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:23731084G>T uc003zpu.2 - 3 544 c.269C>A c.(268-270)CCC>CAC p.P90H ELAVL2_uc003zps.2_Missense_Mutation_p.P90H|ELAVL2_uc003zpt.2_Missense_Mutation_p.P90H|ELAVL2_uc003zpv.2_Missense_Mutation_p.P90H|ELAVL2_uc003zpw.2_Missense_Mutation_p.P90H NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 90 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGCATCCTTGGGGTCAATGTA 0.373 NA 15 62 1.56452e-12 1.80989e-12 0.007413 1 0 UBAP1 51271 broad.mit.edu 37 9 34241369 34241369 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:34241369C>G uc003ztx.2 + 4 581 c.346C>G c.(346-348)CCT>GCT p.P116A UBAP1_uc010mka.1_Missense_Mutation_p.P152A|UBAP1_uc003zty.2_Missense_Mutation_p.P116A|UBAP1_uc011loi.1_Missense_Mutation_p.P152A|UBAP1_uc011loj.1_Missense_Mutation_p.P180A|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.P116A NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 116 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) AATGCCACCTCCTATTAACCC 0.512 NSCLC(109;1074 1634 14978 20375 39620) NA 33 88 0 0 0.005524 0 0 UBAP1 51271 broad.mit.edu 37 9 34242063 34242063 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:34242063C>G uc003ztx.2 + 4 1275 c.1040C>G c.(1039-1041)TCT>TGT p.S347C UBAP1_uc010mka.1_Missense_Mutation_p.S383C|UBAP1_uc003zty.2_Missense_Mutation_p.S347C|UBAP1_uc011loi.1_Missense_Mutation_p.S383C|UBAP1_uc011loj.1_Missense_Mutation_p.S411C|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.S347C NM_016525 NP_057609 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 347 cytoplasm 0 LUSC - Lung squamous cell carcinoma(29;0.00272) TCTGTTTTGTCTGTGTGCACA 0.498 NSCLC(109;1074 1634 14978 20375 39620) NA 46 137 0 0 0.00361 0 0 TRPM3 80036 broad.mit.edu 37 9 73477941 73477941 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:73477941G>T uc004aid.2 - 3 589 c.345C>A c.(343-345)CTC>CTA p.L115L TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.L115L|TRPM3_uc010mor.2_Silent_p.L115L|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.L117L NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 115 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CATTTCGGGAGAGGCGACTTT 0.507 NA 31 76 1.02151e-06 1.09664e-06 0.002836 1 0 GCNT1 2650 broad.mit.edu 37 9 79117682 79117682 + Missense_Mutation SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:79117682G>T uc010mpf.2 + 3 726 c.385G>T c.(385-387)GTT>TTT p.V129F GCNT1_uc010mpg.2_Missense_Mutation_p.V129F|GCNT1_uc010mph.2_Missense_Mutation_p.V129F|GCNT1_uc004akf.3_Missense_Mutation_p.V129F|GCNT1_uc010mpi.2_Missense_Mutation_p.V129F|GCNT1_uc004akh.3_Missense_Mutation_p.V129F NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 129 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 TTCTATAGTGGTTCATCACAA 0.408 NA 55 64 2.69953e-25 3.41675e-25 0.00361 1 0 GKAP1 80318 broad.mit.edu 37 9 86368180 86368180 + Missense_Mutation SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:86368180T>G uc004amy.2 - 9 1329 c.833A>C c.(832-834)CAA>CCA p.Q278P GKAP1_uc004amz.2_Missense_Mutation_p.Q227P NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 isoform a 278 Potential. signal transduction Golgi apparatus 0 AACCTCCCATTGAGTGATTAC 0.299 NA 23 92 0 0 0.00333 0 0 SPTLC1 10558 broad.mit.edu 37 9 94874764 94874764 + Missense_Mutation SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:94874764T>G uc004arl.1 - 2 176 c.138A>C c.(136-138)TTA>TTC p.L46F SPTLC1_uc011ltv.1_Missense_Mutation_p.L46F|SPTLC1_uc004arm.1_Missense_Mutation_p.L46F|SPTLC1_uc004arn.1_Missense_Mutation_p.L46F NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 46 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATCGTTCTTGTAATTTGTAAG 0.348 NA 18 96 0 0 0.002299 0 0 ECM2 1842 broad.mit.edu 37 9 95258649 95258649 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:95258649G>A uc004ash.2 - 10 2113 c.2048C>T c.(2047-2049)TCA>TTA p.S683L CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Intron|ECM2_uc011lty.1_Missense_Mutation_p.S683L|ECM2_uc004asg.2_Missense_Mutation_p.S661L|ECM2_uc010mqz.1_Missense_Mutation_p.S105L NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 683 LRR 13. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TCTTATGCATGAAAATGTGTA 0.299 NA 7 184 0 0 0.00308 0 0 GABBR2 9568 broad.mit.edu 37 9 101304157 101304157 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:101304157C>T uc004ays.2 - 3 784 c.628G>A c.(628-630)GAG>AAG p.E210K NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 210 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGCGTACCTCAGAGAACCTC 0.547 NA 15 41 0 0 0.00499 0 0 TNC 3371 broad.mit.edu 37 9 117848184 117848184 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:117848184C>T uc004bjj.3 - 3 2188 c.1826G>A c.(1825-1827)TGC>TAC p.C609Y TNC_uc010mvf.2_Missense_Mutation_p.C609Y NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 609 EGF-like 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTTGCAGATGCAGCGGCCCGA 0.597 NA 50 14 0 0 0.00361 0 0 C9orf7 11094 broad.mit.edu 37 9 136330483 136330483 + Silent SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:136330483C>T uc011mdg.1 + 3 336 c.234C>T c.(232-234)TTC>TTT p.F78F C9orf7_uc004cec.2_Intron|C9orf7_uc011mdh.1_Silent_p.F78F|C9orf7_uc011mdi.1_Intron|C9orf7_uc010nan.2_RNA NM_017586 NP_060056 Q9UGQ2 FLOWR_HUMAN hypothetical protein LOC11094 isoform a 78 Helical; (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06) AGGCGCCCTTCTGCTGCCAGT 0.602 NA 297 73 0 0 0.00361 0 0 OLFM1 10439 broad.mit.edu 37 9 138011958 138011958 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:138011958G>A uc010nar.2 + 6 1708 c.1392G>A c.(1390-1392)TGG>TGA p.W464* OLFM1_uc004cfl.3_Nonsense_Mutation_p.W446*|OLFM1_uc004cfn.3_Nonsense_Mutation_p.W215* NM_014279 NP_055094 Q99784 NOE1_HUMAN olfactomedin related ER localized protein 464 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding ovary(1)|skin(1) 2 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TGTATGCCTGGAACAACGGCC 0.562 NA 34 154 0 0 0.005524 0 0 SOHLH1 402381 broad.mit.edu 37 9 138588565 138588565 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr9:138588565G>C uc004cgl.2 - 5 615 c.554C>G c.(553-555)GCG>GGG p.A185G SOHLH1_uc010nbe.2_Missense_Mutation_p.A185G NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 185 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CCTGGAGGACGCAAGGATGTG 0.657 NA 99 24 0 0 0.00361 0 0 XG 7499 broad.mit.edu 37 X 2712605 2712605 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:2712605G>A uc011mhg.1 + 6 506 c.283G>A c.(283-285)GGA>AGA p.G95R XG_uc004cqp.2_Missense_Mutation_p.G95R NM_175569 NP_780778 P55808 XG_HUMAN XG glycoprotein isoform 1 precursor 95 Extracellular (Potential). integral to membrane|plasma membrane ovary(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCGTGATGACGGACGCTACCC 0.612 NA 7 8 0 0 0.006214 0 0 RAI2 10742 broad.mit.edu 37 X 17820121 17820121 + Missense_Mutation SNP G G C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:17820121G>C uc004cyf.2 - 3 580 c.10C>G c.(10-12)CTG>GTG p.L4V RAI2_uc004cyg.2_Missense_Mutation_p.L4V|RAI2_uc010nfa.2_Missense_Mutation_p.L4V|RAI2_uc004cyh.3_Missense_Mutation_p.L4V|RAI2_uc011miy.1_Missense_Mutation_p.L4V NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 4 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) TGGGACTGCAGGTCGTCCATC 0.488 NA 79 38 0 0 0.00361 0 0 EIF1AX 1964 broad.mit.edu 37 X 20153879 20153879 + Missense_Mutation SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:20153879T>G uc004czt.2 - 3 389 c.181A>C c.(181-183)ATC>CTC p.I61L NM_001412 NP_001403 P47813 IF1AX_HUMAN X-linked eukaryotic translation initiation 61 S1-like. cytosol translation initiation factor activity ovary(1) 1 TTTCCTCTGATGTGACATAAC 0.378 NA 45 25 0 0 0.00361 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627461 21627461 + Silent SNP G G T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:21627461G>T uc004czx.1 + 20 2454 c.2418G>T c.(2416-2418)CGG>CGT p.R806R CNKSR2_uc004czw.2_Silent_p.R806R|CNKSR2_uc011mjn.1_Silent_p.R757R|CNKSR2_uc011mjo.1_Silent_p.R776R|CNKSR2_uc004czy.2_Silent_p.R398R NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 806 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AGCACAGGCGGCAGTCTACCC 0.547 NA 32 16 8.16721e-17 9.84658e-17 0.002096 1 0 POLA1 5422 broad.mit.edu 37 X 24766437 24766437 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:24766437C>G uc004dbl.2 + 25 2706 c.2683C>G c.(2683-2685)CAA>GAA p.Q895E NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 895 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) GGATGGAGAACAAGAACAGAT 0.368 NA 12 5 0 0 0.00245 0 0 CDK16 5127 broad.mit.edu 37 X 47086599 47086599 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:47086599G>A uc004dho.2 + 13 1657 c.1261G>A c.(1261-1263)GAC>AAC p.D421N CDK16_uc011mli.1_Missense_Mutation_p.D427N|CDK16_uc011mlk.1_Missense_Mutation_p.D428N|CDK16_uc011mll.1_Missense_Mutation_p.D495N NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 421 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 CGACGGGGCCGACCTCCTCAC 0.582 NA 9 7 0 0 0.001855 0 0 ZNF157 7712 broad.mit.edu 37 X 47271817 47271817 + Silent SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:47271817C>G uc004dhr.1 + 4 414 c.345C>G c.(343-345)CTC>CTG p.L115L NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 115 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATAATGCCCTCAGGCATGATA 0.269 NA 34 20 0 0 0.004878 0 0 XAGE3 170626 broad.mit.edu 37 X 52896082 52896082 + Splice_Site SNP A A T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:52896082A>T uc004dre.2 - 2 141 c.81_splice c.e2+1 p.L27_splice XAGE3_uc004drf.2_Splice_Site_p.L27_splice NM_130776 NP_570132 Q8WTP9 GAGD4_HUMAN XAGE-3 protein 0 TAAGGCACTCACCAGCATAGG 0.398 NA 27 16 0 0 0.00632 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64709193 64709193 + Missense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:64709193G>A uc010nko.2 + 1 488 c.479G>A c.(478-480)AGA>AAA p.R160K NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 160 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CCCAGCTCCAGAGAGATTGCA 0.438 NA 33 9 0 0 0.004289 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282948 69282948 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:69282948C>A uc004dxu.1 + 1 608 c.574C>A c.(574-576)CCC>ACC p.P192T NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 192 OTU. lung(1)|skin(1) 2 CTTCAGCAACCCCGAGACCAG 0.612 NA 20 9 6.44725e-10 7.25052e-10 0.002299 1 0 CDX4 1046 broad.mit.edu 37 X 72667226 72667226 + Missense_Mutation SNP C C A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:72667226C>A uc011mqk.1 + 1 137 c.137C>A c.(136-138)GCG>GAG p.A46E NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 46 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) AATTTCGCTGCGGCACCGGCT 0.647 NA 11 5 0.00244969 0.00252705 0.00245 1 0 CXorf26 51260 broad.mit.edu 37 X 75396725 75396725 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:75396725C>G uc004ecl.1 + 5 510 c.307C>G c.(307-309)CCA>GCA p.P103A NM_016500 NP_057584 Q9BVG4 CX026_HUMAN hypothetical protein LOC51260 103 0 GAAGTGGAGGCCATTCTGCTT 0.438 NA 32 12 0 0 0.005524 0 0 ATRX 546 broad.mit.edu 37 X 76972666 76972666 + Silent SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:76972666T>A uc004ecp.3 - 2 307 c.75A>T c.(73-75)TCA>TCT p.S25S ATRX_uc004ecq.3_Silent_p.S25S|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Silent_p.S25S|ATRX_uc010nlx.1_Silent_p.S25S|ATRX_uc010nly.1_Intron NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 25 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) ATTCTTCTGATGAGTGTGCAA 0.343 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 49 24 0 0 0.00361 0 0 ZNF711 7552 broad.mit.edu 37 X 84526329 84526329 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:84526329A>G uc004eeo.2 + 9 2128 c.1781A>G c.(1780-1782)CAT>CGT p.H594R ZNF711_uc004eep.2_Missense_Mutation_p.H594R|ZNF711_uc004eeq.2_Missense_Mutation_p.H640R|ZNF711_uc011mqy.1_Missense_Mutation_p.H193R NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 594 C2H2-type 7. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 CAGTGTCCTCATTGTGACCAT 0.433 NA 6 2 0 0 0.001984 0 0 AGTR2 186 broad.mit.edu 37 X 115304135 115304135 + Missense_Mutation SNP C C T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:115304135C>T uc004eqh.3 + 3 809 c.602C>T c.(601-603)CCT>CTT p.P201L NM_000686 NP_000677 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 201 Extracellular (Potential). behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity ovary(2)|lung(1) 3 GCTTTCCCACCTGAGAAATAT 0.378 NA 30 23 0 0 0.003755 0 0 AMELY 266 broad.mit.edu 37 Y 6736332 6736332 + Nonsense_Mutation SNP G G A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrY:6736332G>A uc004fra.1 - 5 373 c.361C>T c.(361-363)CAG>TAG p.Q121* AMELY_uc004fqz.2_Nonsense_Mutation_p.Q107* NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 121 Gln-rich. biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 ATGGATTGCTGGCCAGGAACA 0.632 NA 53 20 0 0 0.00361 0 0 TMCO2 127391 broad.mit.edu 37 1 40713748 40713749 + Frame_Shift_Ins INS - - T TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:40713748_40713749insT uc001cfe.2 + 1 176_177 c.83_84insT c.(82-84)AGTfs p.S28fs NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 28 integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATACAAGCAAGTTTTTTGGGAG 0.406 NA 54 233 --- --- --- --- NA NA NA NA NA ASPM 259266 broad.mit.edu 37 1 197057405 197057405 + Frame_Shift_Del DEL T T - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:197057405delT uc001gtu.2 - 26 10399 c.10142delA c.(10141-10143)AAGfs p.K3381fs ASPM_uc001gtv.2_Frame_Shift_Del_p.K1796fs|ASPM_uc001gtw.3_Frame_Shift_Del_p.K1229fs NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3381 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATTTGTTGTCTTCAGTAAAAT 0.338 NA 94 79 --- --- --- --- NA NA NA NA NA LOC642587 642587 broad.mit.edu 37 1 209603810 209603810 + Frame_Shift_Del DEL C C - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr1:209603810delC uc009xcn.2 + 3 535 c.152delC c.(151-153)ACCfs p.T51fs LOC642587_uc010psk.1_5'Flank|MIR205_hsa-mir-205|MI0000285_5'Flank NM_001104548 NP_001098018 hypothetical protein LOC642587 0 OV - Ovarian serous cystadenocarcinoma(81;0.0422) AGGGTACGGACCCCACATGAG 0.522 NA 75 133 --- --- --- --- NA NA NA NA NA CUEDC2 79004 broad.mit.edu 37 10 104184914 104184915 + Frame_Shift_Ins INS - - G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr10:104184914_104184915insG uc001kvn.2 - 2 182_183 c.31_32insC c.(31-33)CTCfs p.L11fs CUEDC2_uc001kvm.2_5'Flank NM_024040 NP_076945 Q9H467 CUED2_HUMAN CUE domain containing 2 11 cytoplasm|nucleus protein binding 0 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AAAGGCAAGGAGGGCTGCACTG 0.639 NA 33 77 --- --- --- --- NA NA NA NA NA RB1 5925 broad.mit.edu 37 13 48934258 48934259 + Frame_Shift_Ins INS - - A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr13:48934258_48934259insA uc001vcb.2 + 7 879_880 c.713_714insA c.(712-714)CCAfs p.P238fs RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 238 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.?(5) 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) CTCAAAGAACCATATAGTAAGT 0.223 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) 12 37 --- --- --- --- NA NA NA NA NA FAM179B 23116 broad.mit.edu 37 14 45481238 45481238 + Frame_Shift_Del DEL G G - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr14:45481238delG uc001wvv.2 + 7 3407 c.3198delG c.(3196-3198)AAGfs p.K1066fs FAM179B_uc001wvw.2_Frame_Shift_Del_p.K1066fs|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1066 Ser-rich. binding skin(2)|upper_aerodigestive_tract(1) 3 CTTCTGCAAAGAAAAAAATTT 0.284 NA 8 89 --- --- --- --- NA NA NA NA NA LASS3 204219 broad.mit.edu 37 15 101031128 101031129 + Frame_Shift_Ins INS - - C TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr15:101031128_101031129insC uc002bvz.2 - 5 683_684 c.181_182insG c.(181-183)GCTfs p.A61fs LASS3_uc002bwa.2_Frame_Shift_Ins_p.A72fs|LASS3_uc002bwb.2_Frame_Shift_Ins_p.A61fs NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 61 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) TAGAGGTGAAGCAACAAATCTA 0.322 NSCLC(135;1149 2482 10680 49908) NA 22 41 --- --- --- --- NA NA NA NA NA CCT8L2 150160 broad.mit.edu 37 22 17072854 17072854 + Frame_Shift_Del DEL C C - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr22:17072854delC uc002zlp.1 - 1 847 c.587delG c.(586-588)GGCfs p.G196fs NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 196 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTTGAAGCTGCCGTCTAGTTC 0.612 NA 105 55 --- --- --- --- NA NA NA NA NA IGSF11 152404 broad.mit.edu 37 3 118623578 118623579 + Frame_Shift_Ins INS - - A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:118623578_118623579insA uc003ebw.2 - 6 1017_1018 c.770_771insT c.(769-771)TGCfs p.C257fs IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Frame_Shift_Ins_p.C233fs|IGSF11_uc003eby.2_Frame_Shift_Ins_p.C256fs|IGSF11_uc003ebz.2_Frame_Shift_Ins_p.C232fs|IGSF11_uc010hqs.2_Frame_Shift_Ins_p.C256fs NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 257 Helical; (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TTAGTGCAATGCAAAAAATGAT 0.342 NA 129 180 --- --- --- --- NA NA NA NA NA MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr3:151148114_151148116delCAG uc003eyp.2 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)CAGdel p.Q2115del MED12L_uc011bnz.1_In_Frame_Del_p.Q1779del NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 NA 7 142 --- --- --- --- NA NA NA NA NA BEND4 389206 broad.mit.edu 37 4 42122225 42122225 + Frame_Shift_Del DEL C C - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:42122225delC uc003gwn.2 - 5 1813 c.1233delG c.(1231-1233)GGGfs p.G411fs BEND4_uc003gwm.2_Frame_Shift_Del_p.G411fs|BEND4_uc011byy.1_Frame_Shift_Del_p.G411fs NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 411 BEN. 0 GGAGCCGTCTCCCATCTTTCT 0.458 NA 25 41 --- --- --- --- NA NA NA NA NA LPHN3 23284 broad.mit.edu 37 4 62897312 62897312 + Frame_Shift_Del DEL G G - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr4:62897312delG uc010ihh.2 + 20 3544 c.3371delG c.(3370-3372)TGTfs p.C1124fs LPHN3_uc003hcq.3_Frame_Shift_Del_p.C1124fs|LPHN3_uc003hct.2_Frame_Shift_Del_p.C508fs NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1102 Helical; Name=7; (Potential). 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 ATTTTCCATTGTGTCCTACAG 0.313 NA 19 36 --- --- --- --- NA NA NA NA NA SPRY4 81848 broad.mit.edu 37 5 141694361 141694363 + In_Frame_Del DEL TGC TGC - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 TGC TGC - - TGC TGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:141694361_141694363delTGC uc003lml.2 - 2 570_572 c.311_313delGCA c.(310-315)AGCACA>ACA p.S104del SPRY4_uc010jgi.1_In_Frame_Del_p.S127del NM_001127496 NP_001120968 Q9C004 SPY4_HUMAN sprouty homolog 4 isoform 2 104 Poly-Ser. multicellular organismal development cytoplasm|ruffle membrane protein binding ovary(1)|lung(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGATGTGCTGCTGCTGCT 0.66 NA Testicular_Cancer_Familial_Clustering_of 7 190 --- --- --- --- NA NA NA NA NA CCNJL 79616 broad.mit.edu 37 5 159686536 159686536 + Frame_Shift_Del DEL G G - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr5:159686536delG uc003lyb.1 - 5 919 c.667delC c.(667-669)CGCfs p.R223fs CCNJL_uc011dee.1_Frame_Shift_Del_p.R175fs|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Frame_Shift_Del_p.R175fs NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 223 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGGTCTTGCGGGGGCAGGTG 0.627 NA 26 129 --- --- --- --- NA NA NA NA NA ARID1B 57492 broad.mit.edu 37 6 157099403 157099405 + In_Frame_Del DEL CAG CAG - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr6:157099403_157099405delCAG uc003qqn.2 + 1 318_320 c.166_168delCAG c.(166-168)CAGdel p.Q73del ARID1B_uc003qqo.2_In_Frame_Del_p.Q73del|ARID1B_uc003qqp.2_In_Frame_Del_p.Q73del NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 131 Gln-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AAACCAGTTCcagcagcagcagc 0.118 NA 3 5 --- --- --- --- NA NA NA NA NA DCAF4L2 138009 broad.mit.edu 37 8 88885347 88885347 + Frame_Shift_Del DEL G G - TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chr8:88885347delG uc003ydz.2 - 1 950 c.853delC c.(853-855)CTGfs p.L285fs NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 285 WD 1. ovary(1) 1 GATGACACCAGGAATTGGCCA 0.498 NA 28 53 --- --- --- --- NA NA NA NA NA IL3RA 3563 broad.mit.edu 37 X 1467367 1467376 + Frame_Shift_Del DEL GTGAAGTGAC GTGAAGTGAC - rs141873872 by1000genomes TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 GTGAAGTGAC GTGAAGTGAC - - GTGAAGTGAC GTGAAGTGAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:1467367_1467376delGTGAAGTGAC uc004cps.2 + 4 576_585 c.227_236delGTGAAGTGAC c.(226-237)TGTGAAGTGACCfs p.C76fs IL3RA_uc011mhd.1_Intron NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 76_79 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATTTCCTTATGTGAAGTGACCAACTACACC 0.433 NA 30 366 --- --- --- --- NA NA NA NA NA MED12 9968 broad.mit.edu 37 X 70339996 70339997 + Frame_Shift_Ins INS - - AG TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9a9ed047-e91a-46e2-a054-82f000bc35ea 81a2d022-e55f-49c7-856c-9258fd01c9e5 g.chrX:70339996_70339997insAG uc004dyy.2 + 4 728_729 c.529_530insAG c.(529-531)AAGfs p.K177fs MED12_uc011mpq.1_Frame_Shift_Ins_p.K177fs|MED12_uc004dyz.2_Frame_Shift_Ins_p.K177fs|MED12_uc004dza.2_Frame_Shift_Ins_p.K24fs NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 177 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CAAGGTTAAGAAGAGACATGTT 0.49 NA 61 40 --- --- --- --- NA NA NA NA NA