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 PLCH2 9651 broad.mit.edu 37 1 2430207 2430207 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:2430207G>A uc001aji.1 + 18 2648 c.2374G>A c.(2374-2376)GAG>AAG p.E792K PLCH2_uc010nyz.1_Missense_Mutation_p.E580K|PLCH2_uc009vle.1_Missense_Mutation_p.E544K|PLCH2_uc001ajj.1_Missense_Mutation_p.E580K|PLCH2_uc001ajk.1_Missense_Mutation_p.E580K|PLCH2_uc001ajl.1_5'UTR NM_014638 NP_055453 O75038 PLCH2_HUMAN phospholipase C, eta 2 792 C2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(3)|ovary(1)|skin(1) 5 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) TGTGGAGGTGGAGATCATTGG 0.672 NA 4 10 0 0 0.000602 0 0 GPR153 387509 broad.mit.edu 37 1 6313832 6313832 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:6313832G>A uc001amp.1 - 3 992 c.732C>T c.(730-732)GGC>GGT p.G244G NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 244 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) TGGTCACGAGGCCCGTGGTCT 0.652 NA 9 30 0 0 0.006214 0 0 VPS13D 55187 broad.mit.edu 37 1 12337880 12337880 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:12337880C>A uc001atv.2 + 19 4376 c.4235C>A c.(4234-4236)GCG>GAG p.A1412E VPS13D_uc001atw.2_Missense_Mutation_p.A1412E|VPS13D_uc001atx.2_Missense_Mutation_p.A600E NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1412 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AATTTTGTGGCGGGAGATGAT 0.458 NA 3 80 0.00909568 0.00968112 0.009096 1 0 HSPB7 27129 broad.mit.edu 37 1 16343586 16343586 + Nonsense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:16343586C>A uc001axo.2 - 2 1143 c.316G>T c.(316-318)GAG>TAG p.E106* HSPB7_uc001axp.2_Nonsense_Mutation_p.E194*|HSPB7_uc001axq.2_Nonsense_Mutation_p.E198*|HSPB7_uc001axr.2_Nonsense_Mutation_p.E199*|HSPB7_uc001axs.2_Nonsense_Mutation_p.E181*|CLCNKA_uc001axt.2_5'Flank NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN cardiovascular heat shock protein 106 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GCCCGCACCTCGATGTGGTTG 0.562 NA 40 62 1.03484e-13 1.56263e-13 0.005524 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21936680 21936680 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:21936680G>A uc001bex.2 - 14 1190 c.932C>T c.(931-933)TCC>TTC p.S311F RAP1GAP_uc001bev.2_Missense_Mutation_p.S311F|RAP1GAP_uc001bew.2_Missense_Mutation_p.S375F|RAP1GAP_uc001bey.2_Missense_Mutation_p.S311F NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 311 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CAGGAAGTTGGACGCGATCAT 0.622 NA 10 49 0 0 0.008291 0 0 MYOM3 127294 broad.mit.edu 37 1 24383886 24383886 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:24383886C>A uc001bin.3 - 37 4445 c.4282G>T c.(4282-4284)GGG>TGG p.G1428W MYOM3_uc001bil.3_Missense_Mutation_p.G321W|MYOM3_uc001bim.3_Missense_Mutation_p.G1085W NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1428 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCTCGTCCCCGTGCTTGAAC 0.567 NA 17 26 3.32936e-07 4.20355e-07 0.006122 1 0 CSMD2 114784 broad.mit.edu 37 1 34238194 34238194 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:34238194A>T uc001bxn.1 - 13 1731 c.1702T>A c.(1702-1704)TCG>ACG p.S568T CSMD2_uc001bxm.1_Missense_Mutation_p.S608T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 568 Sushi 3.|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) TTCTTAGCCGACCATTGGTTA 0.577 NA 44 67 0 0 0.01441 0 0 DLGAP3 58512 broad.mit.edu 37 1 35365842 35365842 + Silent SNP G G T rs149715442 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:35365842G>T uc001byc.2 - 2 1140 c.1140C>A c.(1138-1140)ACC>ACA p.T380T NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 380 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCTTGCCACCGGTGGGGTAAC 0.612 NA 14 87 4.14922e-12 5.93496e-12 0.004007 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35940490 35940490 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:35940490C>A uc001byx.2 - 5 1189 c.931G>T c.(931-933)GTA>TTA p.V311L KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.V311L|KIAA0319L_uc010ohx.1_Missense_Mutation_p.V311L NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 311 Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCAGCAGATACCACCAGTTCC 0.373 NA 13 64 5.50884e-06 6.54114e-06 0.013537 1 0 RSPO1 284654 broad.mit.edu 37 1 38082184 38082184 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:38082184G>T uc001cbl.1 - 5 1046 c.258C>A c.(256-258)GCC>GCA p.A86A RSPO1_uc001cbm.1_Silent_p.A86A|RSPO1_uc009vvf.1_Silent_p.A59A|RSPO1_uc009vvg.1_Silent_p.A86A NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 86 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGGGGTTGCGGGCGTCGAAGT 0.612 GBM(122;680 2230 27822 42821) NA 21 32 3.51602e-12 5.05055e-12 0.008871 1 0 C1orf109 54955 broad.mit.edu 37 1 38155361 38155361 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:38155361C>A uc001cbp.2 - 2 382 c.192G>T c.(190-192)CGG>CGT p.R64R C1orf109_uc010oig.1_Silent_p.R127R|C1orf109_uc001cbo.2_Silent_p.R126R|C1orf109_uc001cbq.1_Silent_p.R64R|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank NM_017850 NP_060320 Q9NX04 CA109_HUMAN hypothetical protein LOC54955 64 0 Myeloproliferative disorder(586;0.0393) CTGGGAAGGCCCGAAGCGCCG 0.622 NA 18 75 0.006122 0.00656759 0.006122 1 0 FAM183A 440585 broad.mit.edu 37 1 43616454 43616454 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:43616454C>T uc009vwo.2 + 2 185 c.156C>T c.(154-156)CCC>CCT p.P52P NM_001101376 NP_001094846 A6NL82 F183A_HUMAN hCG23177 52 p.P52P(1) ovary(3) 3 CCAGGAAGCCCATGTCTTGGC 0.468 NA 6 16 0 0 0.001168 0 0 BSND 7809 broad.mit.edu 37 1 55474247 55474247 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:55474247C>A uc001cye.2 + 4 1152 c.909C>A c.(907-909)GCC>GCA p.A303A NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 303 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 CAGATGGAGCCGGGGACCTCC 0.582 Ovarian(191;1657 2078 22894 42033 48899) NA 18 60 1.28384e-07 1.63925e-07 0.012319 1 0 C8A 731 broad.mit.edu 37 1 57372457 57372457 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:57372457G>T uc001cyo.2 + 8 1346 c.1214G>T c.(1213-1215)GGC>GTC p.G405V NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 405 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TTTGGAGGTGGCAAAACTGGC 0.408 NA 25 48 4.47668e-21 7.47583e-21 0.003954 1 0 C8B 732 broad.mit.edu 37 1 57417726 57417726 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:57417726G>T uc001cyp.2 - 5 728 c.661C>A c.(661-663)CCA>ACA p.P221T C8B_uc010oon.1_Missense_Mutation_p.P159T|C8B_uc010ooo.1_Missense_Mutation_p.P169T NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 221 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 ctTACCTGTGGCGTGTAGCTT 0.279 NA 25 44 1.55469e-16 2.49192e-16 0.00333 1 0 LEPR 3953 broad.mit.edu 37 1 66070859 66070859 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:66070859G>T uc001dci.2 + 11 1744 c.1542G>T c.(1540-1542)AGG>AGT p.R514S LEPR_uc001dcg.2_Missense_Mutation_p.R514S|LEPR_uc001dch.2_Missense_Mutation_p.R514S|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.R514S|LEPR_uc001dck.2_Missense_Mutation_p.R514S NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 514 Extracellular (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TGTGGATTAGGATCAATCACT 0.423 NA 37 99 9.45814e-24 1.63171e-23 0.004878 1 0 SGIP1 84251 broad.mit.edu 37 1 67206396 67206396 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:67206396G>A uc001dcr.2 + 23 2507 c.2290G>A c.(2290-2292)GAA>AAA p.E764K SGIP1_uc010opd.1_Missense_Mutation_p.E364K|SGIP1_uc001dcs.2_Missense_Mutation_p.E364K|SGIP1_uc001dct.2_Missense_Mutation_p.E366K|SGIP1_uc009wat.2_Missense_Mutation_p.E558K|SGIP1_uc001dcu.2_Missense_Mutation_p.E269K NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 764 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TCAGAAGTCAGAAAATGGAGG 0.308 NA 6 30 0 0 0.00308 0 0 RPE65 6121 broad.mit.edu 37 1 68910296 68910296 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:68910296G>T uc001dei.1 - 5 467 c.413C>A c.(412-414)CCA>CAA p.P138Q NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 138 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 TTCCCCCACTGGGTAGACATT 0.403 NA 25 57 5.45024e-15 8.51443e-15 0.00333 1 0 ELTD1 64123 broad.mit.edu 37 1 79470904 79470904 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:79470904A>T uc001diq.3 - 2 179 c.23T>A c.(22-24)GTG>GAG p.V8E NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 8 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GGAAAAAACCACTAAATAAAA 0.318 NA 3 15 0 0 0.004672 0 0 GBP4 115361 broad.mit.edu 37 1 89651052 89651052 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:89651052T>C uc001dnb.2 - 11 1924 c.1808A>G c.(1807-1809)GAA>GGA p.E603G NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 603 Potential. cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) CCTTAACTGTTCATTTTTAGT 0.343 NA 13 47 0 0 0.013537 0 0 BRDT 676 broad.mit.edu 37 1 92445140 92445140 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:92445140G>A uc001dok.3 + 8 1462 c.1113G>A c.(1111-1113)ACG>ACA p.T371T BRDT_uc001dol.3_Silent_p.T371T|BRDT_uc010osz.1_Silent_p.T375T|BRDT_uc009wdf.2_Silent_p.T298T|BRDT_uc010ota.1_Silent_p.T325T|BRDT_uc010otb.1_Silent_p.T325T|BRDT_uc001dom.3_Silent_p.T371T NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTTTCGAAACGCATTTTTCAA 0.323 NA 14 37 0 0 0.00245 0 0 LPPR4 9890 broad.mit.edu 37 1 99771956 99771956 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:99771956C>T uc001dse.2 + 7 1788 c.1682C>T c.(1681-1683)GCT>GTT p.A561V LPPR4_uc010oue.1_Missense_Mutation_p.A503V NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 561 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TTAAAAGCTGCTGAAAAGACT 0.547 NA 14 66 0 0 0.00245 0 0 AGL 178 broad.mit.edu 37 1 100382210 100382210 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:100382210G>T uc001dsi.1 + 33 4804 c.4404G>T c.(4402-4404)TTG>TTT p.L1468F AGL_uc001dsj.1_Missense_Mutation_p.L1468F|AGL_uc001dsk.1_Missense_Mutation_p.L1468F|AGL_uc001dsl.1_Missense_Mutation_p.L1468F|AGL_uc001dsm.1_Missense_Mutation_p.L1452F|AGL_uc001dsn.1_Missense_Mutation_p.L1451F NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1468 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TTTCCAGATTGATGGGCCCGG 0.348 NA 12 45 0.000978159 0.00108188 0.010729 1 0 COL11A1 1301 broad.mit.edu 37 1 103474073 103474073 + Splice_Site SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:103474073C>A uc001dul.2 - 15 1948 c.1630_splice c.e15-1 p.G544_splice COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G556_splice|COL11A1_uc001dun.2_Splice_Site_p.G505_splice|COL11A1_uc009weh.2_Splice_Site_p.G428_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 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) CAGGCCCCCCCTATAGAGAAA 0.303 NA 8 52 0.00448238 0.00483156 0.004482 1 0 SLC16A1 6566 broad.mit.edu 37 1 113471717 113471717 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:113471717C>T uc001ecx.2 - 2 1046 c.214G>A c.(214-216)GGA>AGA p.G72R SLC16A1_uc001ecy.2_Missense_Mutation_p.G72R|SLC16A1_uc001ecz.2_Missense_Mutation_p.G72R NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 72 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) TACTTACCTCCACCATACATG 0.378 NA 4 25 0 0 0.009096 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882775 144882775 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:144882775C>A uc001elw.3 - 24 3535 c.3244G>T c.(3244-3246)GTG>TTG p.V1082L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.E1147_splice|PDE4DIP_uc001elv.3_Missense_Mutation_p.V89L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1082 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCAACCATCACCTCGCCCTTC 0.502 NA T PDGFRB MPD 75 534 1.14856e-27 2.04928e-27 0.01441 1 0 C1orf54 79630 broad.mit.edu 37 1 150252073 150252073 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:150252073C>T uc001eud.2 + 5 358 c.320C>T c.(319-321)GCC>GTC p.A107V C1orf54_uc001euc.2_Missense_Mutation_p.A108V|C1orf54_uc001eue.2_Intron|C1orf54_uc001euf.2_Missense_Mutation_p.A107V|C1orf54_uc001eug.2_Intron|C1orf51_uc001euh.2_5'Flank|C1orf51_uc001eui.2_5'Flank NM_024579 NP_078855 Q8WWF1 CA054_HUMAN hypothetical protein LOC79630 precursor 107 extracellular region 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAACGATGCCGTGTCCAGT 0.522 NA 6 871 0 0 0.001984 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150531542 150531542 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:150531542G>A uc001eux.2 + 16 2900 c.2664G>A c.(2662-2664)GGG>GGA p.G888G ADAMTSL4_uc009wlw.2_Silent_p.G911G|ADAMTSL4_uc010pcg.1_Silent_p.G849G|ADAMTSL4_uc009wlx.2_Silent_p.G51G NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 888 TSP type-1 4. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CAGGAACTGGGCAGAGCTGTC 0.692 NA 6 52 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152187706 152187706 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:152187706G>A uc001ezt.1 - 3 6475 c.6399C>T c.(6397-6399)TAC>TAT p.Y2133Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2133 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGTCCGTAGCCAGAGG 0.567 NA 40 604 0 0 0.01441 0 0 CD1D 912 broad.mit.edu 37 1 158152695 158152695 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:158152695G>T uc001frr.2 + 5 1134 c.635G>T c.(634-636)GGC>GTC p.G212V CD1D_uc009wss.2_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 212 Ig-like.|Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CTGTCCCGTGGCCCCAGTCCT 0.572 NA 37 77 3.62531e-18 5.95147e-18 0.004289 1 0 SPTA1 6708 broad.mit.edu 37 1 158650416 158650416 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:158650416C>A uc001fst.1 - 5 834 c.635G>T c.(634-636)GGG>GTG p.G212V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 212 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AACAACTCTCCCTTCTTTAGC 0.463 NA 48 85 2.01872e-29 3.62087e-29 0.01441 1 0 PYHIN1 149628 broad.mit.edu 37 1 158911940 158911940 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:158911940T>G uc001ftb.2 + 5 998 c.753T>G c.(751-753)CAT>CAG p.H251Q PYHIN1_uc001ftc.2_Missense_Mutation_p.H242Q|PYHIN1_uc001ftd.2_Missense_Mutation_p.H251Q|PYHIN1_uc001fte.2_Missense_Mutation_p.H242Q NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 251 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AGTTCTTTCATGTGAAGGTTT 0.323 NA 11 18 0 0 0.013537 0 0 LY9 4063 broad.mit.edu 37 1 160784336 160784336 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:160784336C>A uc001fwu.2 + 4 907 c.857C>A c.(856-858)ACA>AAA p.T286K LY9_uc010pjs.1_Missense_Mutation_p.T286K|LY9_uc001fwv.2_Missense_Mutation_p.T286K|LY9_uc001fww.2_Missense_Mutation_p.T286K|LY9_uc001fwx.2_Missense_Mutation_p.T286K|LY9_uc001fwy.1_Missense_Mutation_p.T188K|LY9_uc001fwz.2_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 286 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTGTTTAACACATCCATCATT 0.552 NA 28 56 3.73148e-12 5.34871e-12 0.007291 1 0 OLFML2B 25903 broad.mit.edu 37 1 161953798 161953798 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:161953798G>T uc001gbu.2 - 8 2344 c.1920C>A c.(1918-1920)GGC>GGA p.G640G OLFML2B_uc001gbt.2_Silent_p.G123G|OLFML2B_uc010pkq.1_Silent_p.G641G NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 640 Olfactomedin-like. skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCTGGCTGAAGCCCTCATCGT 0.617 NA 5 39 8.12818e-05 9.26203e-05 0.001984 1 0 ANKRD45 339416 broad.mit.edu 37 1 173616126 173616126 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:173616126C>A uc001gja.1 - 3 416 c.355G>T c.(355-357)GCC>TCC p.A119S NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 135 ANK 2. 0 CGACCCCAGGCTGCAGCACAA 0.423 NA 27 34 0.000147802 0.000168137 0.00632 1 0 SERPINC1 462 broad.mit.edu 37 1 173878765 173878765 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:173878765C>T uc001gjt.2 - 5 1197 c.1078G>A c.(1078-1080)GGC>AGC p.G360S NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 360 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) AAACTGAAGCCGTCCTCAATG 0.542 NA 26 138 0 0 0.00632 0 0 TNR 7143 broad.mit.edu 37 1 175365812 175365813 + Missense_Mutation DNP GG GG CT TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:175365812_175365813GG>CT uc001gkp.1 - 3 1188_1189 c.1107_1108CC>AG c.(1105-1110)CTCCAG>CTAGAG p.Q370E TNR_uc009wwu.1_Missense_Mutation_p.Q370E|TNR_uc010pmz.1_Missense_Mutation_p.P335R NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 370 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACCCGCTGCTGGAGCTGGAGGC 0.589 NA 7 60 0 0 0.004672 0 0 TPR 7175 broad.mit.edu 37 1 186344160 186344160 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:186344160T>A uc001grv.2 - 1 298 c.1A>T c.(1-3)ATG>TTG p.M1L C1orf27_uc001grw.2_5'Flank|C1orf27_uc010poq.1_5'Flank|C1orf27_uc010por.1_5'Flank|TPR_uc010pop.1_Missense_Mutation_p.M77L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACCGCCGCCATGTCGGTGGGG 0.622 NA T NTRK1 papillary thyroid 6 34 0 0 0.001168 0 0 KCNT2 343450 broad.mit.edu 37 1 196274434 196274434 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:196274434G>T uc001gtd.1 - 22 2585 c.2525C>A c.(2524-2526)CCC>CAC p.P842H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.P768H|KCNT2_uc001gtf.1_Missense_Mutation_p.P818H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.P818H|KCNT2_uc001gth.1_Missense_Mutation_p.P339H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 842 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CATGTTGGCGGGGTGAGTTAG 0.358 NA 26 35 1.2476e-16 2.00444e-16 0.00632 1 0 DENND1B 163486 broad.mit.edu 37 1 197522226 197522226 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:197522226A>T uc001guf.3 - 16 1504 c.1166T>A c.(1165-1167)CTG>CAG p.L389Q DENND1B_uc010ppe.1_Missense_Mutation_p.L369Q|DENND1B_uc010ppf.1_Intron|DENND1B_uc001gue.3_Missense_Mutation_p.L359Q NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 389 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 TAGTTTTGCCAGTCGACCATC 0.299 NA 25 47 0 0 0.00278 0 0 PTPRC 5788 broad.mit.edu 37 1 198668779 198668779 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:198668779G>T uc001gur.1 + 5 559 c.379G>T c.(379-381)GGC>TGC p.G127C PTPRC_uc001gus.1_Missense_Mutation_p.G127C|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.G63C|PTPRC_uc009wzf.1_Missense_Mutation_p.G63C|PTPRC_uc010ppg.1_Missense_Mutation_p.G63C|PTPRC_uc001guu.1_Missense_Mutation_p.G170C|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 127 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GACATTCAGCGGCTCCGCCGC 0.532 NA OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 134 1.3612e-06 1.66588e-06 0.003163 1 0 KDM5B 10765 broad.mit.edu 37 1 202702652 202702652 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:202702652C>A uc001gyf.2 - 23 3902 c.3786G>T c.(3784-3786)TGG>TGT p.W1262C KDM5B_uc009xag.2_Missense_Mutation_p.W1298C|KDM5B_uc001gyg.1_Missense_Mutation_p.W1104C NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1262 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CTCTGTGCTGCCAGTTCACGG 0.502 NA 18 107 4.96729e-08 6.42714e-08 0.008871 1 0 LAX1 54900 broad.mit.edu 37 1 203743121 203743121 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:203743121C>T uc001haa.2 + 5 919 c.509C>T c.(508-510)TCG>TTG p.S170L LAX1_uc010pql.1_Missense_Mutation_p.S154L|LAX1_uc001hab.2_Missense_Mutation_p.S94L NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 170 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CTCACTCCCTCGGCACACTGC 0.532 NA 38 45 0 0 0.004878 0 0 CNTN2 6900 broad.mit.edu 37 1 205036280 205036281 + Missense_Mutation DNP CC CC AT TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:205036280_205036281CC>AT uc001hbr.2 + 16 2296_2297 c.2027_2028CC>AT c.(2026-2028)ACC>AAT p.T676N CNTN2_uc001hbq.1_Missense_Mutation_p.T567N|CNTN2_uc001hbs.2_Missense_Mutation_p.T464N NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 676 Fibronectin type-III 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTGGGCCTCACCCCCTGGATGG 0.579 Melanoma(183;2548 2817 37099 41192) NA 5 63 0 0 0.004672 0 0 DTL 51514 broad.mit.edu 37 1 212245479 212245479 + Missense_Mutation SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:212245479A>C uc009xdc.2 + 11 1273 c.959A>C c.(958-960)TAT>TCT p.Y320S DTL_uc010ptb.1_Missense_Mutation_p.Y278S|DTL_uc001hiz.3_Missense_Mutation_p.Y49S NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 320 WD 6. DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TCTACCTTTTATGTAAAATCC 0.398 NA 6 85 0 0 0.001984 0 0 ESRRG 2104 broad.mit.edu 37 1 216737622 216737622 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:216737622T>A uc001hkw.1 - 5 967 c.801A>T c.(799-801)ACA>ACT p.T267T ESRRG_uc001hky.1_Silent_p.T244T|ESRRG_uc009xdp.1_Silent_p.T244T|ESRRG_uc001hkz.1_Silent_p.T205T|ESRRG_uc010puc.1_Silent_p.T244T|ESRRG_uc001hla.1_Silent_p.T244T|ESRRG_uc001hlb.1_Silent_p.T244T|ESRRG_uc010pud.1_Silent_p.T75T|ESRRG_uc001hlc.1_Silent_p.T244T|ESRRG_uc001hld.1_Silent_p.T244T|ESRRG_uc001hkx.1_Silent_p.T279T|ESRRG_uc009xdo.1_Silent_p.T244T|ESRRG_uc001hle.1_Silent_p.T244T NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 267 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AGTCACACAGTGTAGTGAGGG 0.458 NA 7 59 0 0 0.001984 0 0 LYST 1130 broad.mit.edu 37 1 235969162 235969162 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:235969162T>C uc001hxj.2 - 6 3449 c.3274A>G c.(3274-3276)ACA>GCA p.T1092A LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.T1092A NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1092 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTTGACTTGTAAATAGCTTT 0.418 NA Chediak-Higashsyndrome 10 73 0 0 0.006214 0 0 RYR2 6262 broad.mit.edu 37 1 237944870 237944870 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:237944870C>A uc001hyl.1 + 89 12006 c.11886C>A c.(11884-11886)TCC>TCA p.S3962S RYR2_uc010pya.1_Silent_p.S377S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3962 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) TTCAGGATTCCAGTCAAATTG 0.338 NA 6 9 3.59834e-05 4.1491e-05 0.001168 1 0 ZP4 57829 broad.mit.edu 37 1 238048492 238048492 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:238048492T>A uc001hym.2 - 9 1284 c.1284A>T c.(1282-1284)ACA>ACT p.T428T LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 428 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTTTCTCCACTGTAGGGTTCA 0.532 NSCLC(166;160 2029 11600 18754 19936) NA 24 29 0 0 0.014323 0 0 FMN2 56776 broad.mit.edu 37 1 240497408 240497409 + Splice_Site DNP GG GG TT TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:240497408_240497409GG>TT uc010pyd.1 + 13 4870 c.4645_splice c.e13-1 p.D1549_splice FMN2_uc010pye.1_Splice_Site_p.D1553_splice|FMN2_uc010pyf.1_Splice_Site_p.D195_splice|FMN2_uc010pyg.1_Splice_Site_p.D145_splice NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTGTTCATTAGGATGCTGGAAA 0.347 NA 58 89 0 0 0.004672 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243652408 243652408 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:243652408G>T uc001hzw.2 + 17 2234 c.2078G>T c.(2077-2079)AGC>ATC p.S693I SDCCAG8_uc010pyk.1_Missense_Mutation_p.S548I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.S505I|SDCCAG8_uc001hzx.2_Missense_Mutation_p.S426I|AKT3_uc001hzz.1_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 693 Mediates interaction with OFD1.|Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) GAGAGGCAGAGCCTGTCGGAA 0.622 NA 8 15 1.12685e-05 1.32181e-05 0.004482 1 0 NLRP3 114548 broad.mit.edu 37 1 247588623 247588623 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:247588623C>A uc001icr.2 + 5 2016 c.1878C>A c.(1876-1878)AGC>AGA p.S626R NLRP3_uc001ics.2_Missense_Mutation_p.S626R|NLRP3_uc001icu.2_Missense_Mutation_p.S626R|NLRP3_uc001icw.2_Missense_Mutation_p.S626R|NLRP3_uc001icv.2_Missense_Mutation_p.S626R|NLRP3_uc010pyw.1_Missense_Mutation_p.S624R|NLRP3_uc001ict.1_Missense_Mutation_p.S624R NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 626 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCAGCCCAGCCAGCTGGAAT 0.463 NA 20 34 0.000175454 0.000197605 0.010504 1 0 NLRP3 114548 broad.mit.edu 37 1 247607377 247607377 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:247607377G>T uc001icr.2 + 9 2911 c.2773G>T c.(2773-2775)GGA>TGA p.G925* NLRP3_uc001ics.2_Nonsense_Mutation_p.G868*|NLRP3_uc001icu.2_Nonsense_Mutation_p.G925*|NLRP3_uc001icw.2_Nonsense_Mutation_p.G868*|NLRP3_uc001icv.2_Nonsense_Mutation_p.G811*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.G903* NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 925 LRR 7. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAACACTCTCGGAGACAAGGG 0.493 NA 36 59 6.90743e-12 9.83873e-12 0.003755 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128777 248128777 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:248128777C>A uc010pzd.1 + 1 144 c.144C>A c.(142-144)ACC>ACA p.T48T OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCATTGCCACCCTCTTTACAG 0.428 Melanoma(45;390 1181 23848 28461 41504) NA 24 247 4.26978e-12 6.09454e-12 0.00333 1 0 OR2T33 391195 broad.mit.edu 37 1 248436317 248436317 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:248436317T>A uc010pzi.1 - 1 800 c.800A>T c.(799-801)AAC>ATC p.N267I NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTTGTCATGGTTAGTGGACCT 0.473 NA 33 198 0 0 0.003755 0 0 OR2T4 127074 broad.mit.edu 37 1 248525781 248525781 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:248525781C>A uc001ieh.1 + 1 899 c.899C>A c.(898-900)CCT>CAT p.P300H NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 300 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACCACACCCCTGAGAAGGAC 0.507 NA 70 130 1.43675e-24 2.49774e-24 0.01441 1 0 OR2T3 343173 broad.mit.edu 37 1 248636972 248636972 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:248636972C>G uc001iel.1 + 1 321 c.321C>G c.(319-321)TTC>TTG p.F107L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCAGATGTTCTTCTACCTGA 0.542 NA 45 63 0 0 0.01441 0 0 TUBB8 347688 broad.mit.edu 37 10 93890 93890 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:93890C>A uc001ifi.2 - 4 442 c.442G>T c.(442-444)GGT>TGT p.G148C TUBB8_uc009xhe.2_Missense_Mutation_p.G111C|TUBB8_uc010pzs.1_Missense_Mutation_p.G76C NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 148 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AGAAGGGTACCCATCCCAGAC 0.587 Pancreas(192;2041 3010 9013 18103) NA 27 153 2.12542e-12 3.08572e-12 0.00632 1 0 GATA3 2625 broad.mit.edu 37 10 8100557 8100557 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:8100557G>A uc001ika.2 + 3 1088 c.531G>A c.(529-531)CGG>CGA p.R177R GATA3_uc001ijz.2_Silent_p.R177R NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 177 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 GCTCGGCCCGGCAGGACGAGA 0.701 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 3 42 0 0 0.004672 0 0 GPR158 57512 broad.mit.edu 37 10 25887427 25887427 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:25887427C>A uc001isj.2 + 11 2932 c.2872C>A c.(2872-2874)CCC>ACC p.P958T GPR158_uc001isk.2_Missense_Mutation_p.P333T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 958 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGATCCTGCCCCCCAAAACTC 0.438 NA 29 66 1.26454e-06 1.55601e-06 0.005443 1 0 SYT15 83849 broad.mit.edu 37 10 46967663 46967663 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:46967663T>C uc001jea.2 - 4 567 c.414A>G c.(412-414)AAA>AAG p.K138K SYT15_uc001jdz.2_Silent_p.K138K|SYT15_uc001jeb.2_Silent_p.K16K|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 138 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 CGGTCTCACTTTTGTCCTCCG 0.612 Ovarian(57;1152 1428 19651 37745) NA 16 175 0 0 0.007413 0 0 OGDHL 55753 broad.mit.edu 37 10 50953477 50953477 + Nonsense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:50953477G>C uc001jie.2 - 12 1684 c.1542C>G c.(1540-1542)TAC>TAG p.Y514* OGDHL_uc009xog.2_Nonsense_Mutation_p.Y541*|OGDHL_uc010qgt.1_Nonsense_Mutation_p.Y457*|OGDHL_uc010qgu.1_Nonsense_Mutation_p.Y305*|OGDHL_uc009xoh.2_Nonsense_Mutation_p.Y305* NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 514 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGATCTGCTTGTACATGAGCG 0.612 NA 8 52 0 0 0.008291 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62648365 62648365 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:62648365A>T uc001jli.2 - 7 1499 c.1061T>A c.(1060-1062)GTG>GAG p.V354E RHOBTB1_uc001jlh.2_Missense_Mutation_p.V354E|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V354E|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V354E|RHOBTB1_uc009xpe.1_Missense_Mutation_p.V292E|RHOBTB1_uc001jll.2_Missense_Mutation_p.V104E NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 354 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) CAGAGCCTCCACCAGGCTCTT 0.577 NA 58 84 0 0 0.01441 0 0 GRID1 2894 broad.mit.edu 37 10 87379647 87379647 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:87379647G>T uc001kdl.1 - 14 2438 c.2337C>A c.(2335-2337)CCC>CCA p.P779P GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Silent_p.P350P NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 779 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) GGTCCCTGTAGGGGCTGCCAT 0.567 NA Multiple Myeloma(13;0.14) 13 26 1.5842e-08 2.09374e-08 0.001855 1 0 SEC31B 25956 broad.mit.edu 37 10 102256170 102256170 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:102256170T>C uc001krc.1 - 18 2257 c.2155A>G c.(2155-2157)ATG>GTG p.M719V SEC31B_uc010qpo.1_Missense_Mutation_p.M718V|SEC31B_uc001krd.1_Missense_Mutation_p.M256V|SEC31B_uc001krf.1_Missense_Mutation_p.M256V|SEC31B_uc001kre.1_Missense_Mutation_p.M256V|SEC31B_uc001krg.1_Missense_Mutation_p.M288V NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 719 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TTAAGAACCATCACCTTCTCC 0.557 NA 9 67 0 0 0.006214 0 0 SLK 9748 broad.mit.edu 37 10 105750539 105750539 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:105750539G>C uc001kxo.1 + 2 291 c.257G>C c.(256-258)TGT>TCT p.C86S SLK_uc001kxp.1_Missense_Mutation_p.C86S NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 86 Protein kinase. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTAGCATCTTGTGATCACCCA 0.348 NSCLC(111;540 1651 1927 4474 17706) NA 9 57 0 0 0.006214 0 0 COL17A1 1308 broad.mit.edu 37 10 105794522 105794523 + Missense_Mutation DNP GC GC AA TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:105794522_105794523GC>AA uc001kxr.2 - 51 3791_3792 c.3622_3623GC>TT c.(3622-3624)GCC>TTC p.A1208F COL17A1_uc001kxq.2_5'Flank NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1208 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGACAAGCCGGCAGCTGGGCAG 0.644 NA 10 36 0 0 0.004672 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355819 118355819 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:118355819C>A uc001lco.1 + 6 577 c.559C>A c.(559-561)CTG>ATG p.L187M PNLIPRP1_uc001lcp.2_Missense_Mutation_p.L187M|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 187 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) GACTCCAGGCCTGAGCAGGAT 0.582 NA 32 129 2.81731e-10 3.87452e-10 0.010818 1 0 VAX1 11023 broad.mit.edu 37 10 118897512 118897512 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:118897512G>C uc009xyx.2 - 1 301 c.56C>G c.(55-57)GCC>GGC p.A19G VAX1_uc001ldb.1_Missense_Mutation_p.A19G NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 19 nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) CGAGACCCGGGCAGCCTCGGC 0.507 NA 9 39 0 0 0.004482 0 0 EIF3A 8661 broad.mit.edu 37 10 120810820 120810820 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:120810820T>A uc001ldu.2 - 15 2356 c.2210A>T c.(2209-2211)CAG>CTG p.Q737L EIF3A_uc010qsu.1_Missense_Mutation_p.Q703L|EIF3A_uc009xzg.1_5'Flank NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 737 Interaction with EIF3B.|Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) ACGTTCTAGCTGCATTGTAGT 0.348 NA 30 66 0 0 0.010818 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930853 133930853 + Silent SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:133930853G>C uc001lkx.3 + 2 408 c.408G>C c.(406-408)CTG>CTC p.L136L NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CCGTGCTGCTGTCCGAGGCCA 0.607 NA 11 77 0 0 0.00245 0 0 SYCE1 93426 broad.mit.edu 37 10 135369500 135369500 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr10:135369500G>T uc001lno.2 - 9 685 c.580C>A c.(580-582)CAG>AAG p.Q194K CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.Q66K|SYCE1_uc009ybn.2_Missense_Mutation_p.Q194K|SYCE1_uc001lnn.2_Missense_Mutation_p.Q158K NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 194 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TTGAGCAGCTGCTCCTTGCTG 0.582 NA 35 64 1.42033e-22 2.4135e-22 0.004289 1 0 MUC5B 727897 broad.mit.edu 37 11 1269244 1269244 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:1269244C>G uc009ycr.1 + 50 12844 c.12718C>G c.(12718-12720)CCG>GCG p.P4240A MUC5B_uc001ltb.2_Missense_Mutation_p.P3715A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3712 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACGGCCACCCCGTCCTCCAC 0.657 NA 41 42 0 0 0.01441 0 0 SYT8 90019 broad.mit.edu 37 11 1857722 1857722 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:1857722G>T uc001lue.1 + 6 754 c.626G>T c.(625-627)GGG>GTG p.G209V SYT8_uc001lud.2_Missense_Mutation_p.G209V|SYT8_uc001luf.1_Missense_Mutation_p.G195V|TNNI2_uc010qxc.1_5'Flank|TNNI2_uc010qxd.1_5'Flank NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 209 C2 1.|Cytoplasmic (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGCTTCTCGGGGCATGAGCCC 0.672 NA 9 9 7.93312e-07 9.79719e-07 0.00245 1 0 CHRNA10 57053 broad.mit.edu 37 11 3688774 3688775 + Missense_Mutation DNP CC CC AA TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:3688774_3688775CC>AA uc001lyf.2 - 4 654_655 c.582_583GG>TT c.(580-585)GCGGAC>GCTTAC p.D195Y CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 195 Extracellular (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TCCACGAAGTCCGCCAGGCTGG 0.718 Melanoma(153;17 1869 2949 7120 36888) NA 3 4 0 0 0.004672 0 0 OR52B4 143496 broad.mit.edu 37 11 4389409 4389409 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4389409G>A uc010qye.1 - 1 117 c.117C>T c.(115-117)ACC>ACT p.T39T NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAGAAGGGCGGTGACATAGG 0.527 NA 4 33 0 0 0.009096 0 0 OR51D1 390038 broad.mit.edu 37 11 4661968 4661968 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4661968C>A uc010qyk.1 + 1 948 c.948C>A c.(946-948)CTC>CTA p.L316L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 316 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAGGGTCCTCTGTATGTTCT 0.463 NA 32 43 1.62565e-12 2.36521e-12 0.012213 1 0 OR51E1 143503 broad.mit.edu 37 11 4674283 4674283 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4674283T>C uc001lzi.3 + 2 671 c.527T>C c.(526-528)ATC>ACC p.I176T NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CGCTCCAATATCCTTTCCCAT 0.547 NA 58 72 0 0 0.01441 0 0 OR51F2 119694 broad.mit.edu 37 11 4842747 4842747 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4842747T>A uc010qyn.1 + 1 132 c.132T>A c.(130-132)CCT>CCA p.P44P NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCATCCCTTTTTGTCTCC 0.483 NA 101 143 0 0 0.01441 0 0 OR51F2 119694 broad.mit.edu 37 11 4843386 4843386 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4843386C>A uc010qyn.1 + 1 771 c.771C>A c.(769-771)TCC>TCA p.S257S NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTGCACATCCCACATCAGTG 0.498 NA 20 30 8.34094e-07 1.02821e-06 0.008871 1 0 OR51G2 81282 broad.mit.edu 37 11 4936493 4936493 + Missense_Mutation SNP G G T rs148695983 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:4936493G>T uc001lzr.1 - 1 401 c.401C>A c.(400-402)CCC>CAC p.P134H NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGTGCAAGGGGTGGCAGAT 0.488 NA 12 10 2.27111e-07 2.88354e-07 0.013537 1 0 OR51V1 283111 broad.mit.edu 37 11 5221548 5221548 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:5221548G>T uc010qyz.1 - 1 383 c.383C>A c.(382-384)GCC>GAC p.A128D NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 128 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCGGTCAAAGGCCATAGTGAG 0.453 NA 11 24 0.000673444 0.00074607 0.008291 1 0 OR52L1 338751 broad.mit.edu 37 11 6007894 6007894 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:6007894C>A uc001mcd.2 - 1 322 c.267G>T c.(265-267)CTG>CTT p.L89L NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, 89 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCAGAACCAGGTCGATGG 0.522 Melanoma(121;653 1666 10547 22796 51255) NA 9 11 7.48243e-07 9.29137e-07 0.006214 1 0 NLRP14 338323 broad.mit.edu 37 11 7083644 7083644 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:7083644T>A uc001mfb.1 + 10 3208 c.2885T>A c.(2884-2886)CTG>CAG p.L962Q NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 962 LRR 9. 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) CTGAGGAGCCTGGACCTTGGG 0.423 NA 36 48 0 0 0.004289 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17190358 17190358 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:17190358C>G uc001mmq.3 - 1 997 c.931G>C c.(931-933)GAG>CAG p.E311Q PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.E311Q|PIK3C2A_uc009ygv.1_Missense_Mutation_p.E311Q NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 311 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GTCGATCTCTCTTCAAGAAGA 0.393 NA 6 77 0 0 0.001984 0 0 LUZP2 338645 broad.mit.edu 37 11 25004827 25004827 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:25004827G>T uc001mqs.2 + 9 987 c.753G>T c.(751-753)GCG>GCT p.A251A LUZP2_uc009yif.2_Silent_p.A165A|LUZP2_uc009yig.2_Silent_p.A209A NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 251 extracellular region ovary(1)|skin(1) 2 CAGATGCAGCGGCCAAAAGCA 0.433 NA 24 33 2.21704e-12 3.20501e-12 0.00278 1 0 PAX6 5080 broad.mit.edu 37 11 31811563 31811563 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:31811563G>T uc001mtd.3 - 12 2078 c.1188C>A c.(1186-1188)CTC>CTA p.L396L PAX6_uc001mte.3_Silent_p.L396L|PAX6_uc001mtg.3_Silent_p.L410L|PAX6_uc001mtf.3_Silent_p.L396L|PAX6_uc001mth.3_Silent_p.L396L|PAX6_uc009yjr.2_Silent_p.L396L NM_001127612 NP_001121084 P26367 PAX6_HUMAN paired box gene 6 isoform a 396 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 9 Lung SC(675;0.225) CAGGGGAAATGAGTCCTAGAA 0.323 NA Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 12 18 9.31168e-06 1.1018e-05 0.001855 1 0 QSER1 79832 broad.mit.edu 37 11 32956353 32956353 + Silent SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:32956353A>T uc001mty.2 + 4 3429 c.3162A>T c.(3160-3162)GCA>GCT p.A1054A QSER1_uc001mtz.1_Silent_p.A815A|QSER1_uc001mua.2_Silent_p.A559A NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1054 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) CTGGGGATGCAGTCAGTGTCA 0.438 NA 26 26 0 0 0.004656 0 0 NR1H3 10062 broad.mit.edu 37 11 47282902 47282902 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:47282902C>T uc009ylm.2 + 5 831 c.610C>T c.(610-612)CCC>TCC p.P204S NR1H3_uc009yll.1_Missense_Mutation_p.P210S|NR1H3_uc010rhk.1_Missense_Mutation_p.P210S|NR1H3_uc001nek.2_Missense_Mutation_p.P159S|NR1H3_uc001nej.2_Missense_Mutation_p.P204S|NR1H3_uc001nel.2_Missense_Mutation_p.P159S|NR1H3_uc001nen.3_Missense_Mutation_p.P204S|NR1H3_uc001nem.2_Missense_Mutation_p.P204S|NR1H3_uc001nep.2_Missense_Mutation_p.P113S NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 204 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 CCAAATCCTGCCCCAGCTCAG 0.597 NA 14 13 0 0 0.00499 0 0 OR4A16 81327 broad.mit.edu 37 11 55110712 55110712 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:55110712C>A uc010rie.1 + 1 36 c.36C>A c.(34-36)CTC>CTA p.L12L NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AATTTGTCCTCCTGGGCCTCA 0.388 NA 11 46 1.58986e-06 1.94221e-06 0.008291 1 0 OR4P4 81300 broad.mit.edu 37 11 55406106 55406106 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:55406106C>A uc010rij.1 + 1 273 c.273C>A c.(271-273)TCC>TCA p.S91S NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AGACCATTTCCTATAATAACT 0.418 NA 103 125 1.85837e-24 3.22245e-24 0.01441 1 0 OR5L1 219437 broad.mit.edu 37 11 55579446 55579446 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:55579446C>A uc001nhw.1 + 1 504 c.504C>A c.(502-504)TTC>TTA p.F168L NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GGATCCCCTTCTATAGATCTA 0.458 NA 46 247 6.21074e-16 9.86155e-16 0.011902 1 0 OR8J3 81168 broad.mit.edu 37 11 55904620 55904620 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:55904620G>C uc010riz.1 - 1 575 c.575C>G c.(574-576)ACT>AGT p.T192S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) TGGTATGTAAGTATCAGAGCA 0.303 NA 22 120 0 0 0.010504 0 0 OR5T1 390155 broad.mit.edu 37 11 56043707 56043707 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:56043707C>A uc001nio.1 + 1 593 c.593C>A c.(592-594)GCT>GAT p.A198D NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 198 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CCTCTGCTTGCTATTTCTTGT 0.398 NA 130 173 1.19401e-59 2.224e-59 0.01441 1 0 OR5T1 390155 broad.mit.edu 37 11 56043777 56043777 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:56043777C>G uc001nio.1 + 1 663 c.663C>G c.(661-663)GTC>GTG p.V221V NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 221 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TTGAGATAGTCACTATCCTGA 0.418 NA 61 216 0 0 0.01441 0 0 OR5M3 219482 broad.mit.edu 37 11 56237320 56237320 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:56237320G>C uc010rjk.1 - 1 654 c.654C>G c.(652-654)TTC>TTG p.F218L NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 218 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CAATGAGGATGAATAAGTAAG 0.428 NA 10 67 0 0 0.010729 0 0 MS4A14 84689 broad.mit.edu 37 11 60183058 60183058 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:60183058C>A uc001npj.2 + 5 1182 c.617C>A c.(616-618)GCT>GAT p.A206D MS4A14_uc001npi.2_Missense_Mutation_p.A94D|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A189D|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 206 integral to membrane receptor activity breast(1) 1 GGAGGCTATGCTTTCTTCAAG 0.383 NA 23 38 2.32416e-17 3.77885e-17 0.014323 1 0 SLC15A3 51296 broad.mit.edu 37 11 60714150 60714150 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:60714150C>A uc001nqn.2 - 2 936 c.702G>T c.(700-702)GTG>GTT p.V234V SLC15A3_uc001nqo.2_Silent_p.V234V NM_016582 NP_057666 Q8IY34 S15A3_HUMAN solute carrier family 15, member 3 234 Helical; (Potential). oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity 0 CCACACAGCCCACAGGGATGC 0.562 NA 31 199 4.15321e-07 5.23397e-07 0.009535 1 0 CD6 923 broad.mit.edu 37 11 60783254 60783254 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:60783254A>T uc001nqq.2 + 9 1680 c.1457A>T c.(1456-1458)TAT>TTT p.Y486F CD6_uc001nqp.2_Missense_Mutation_p.Y486F|CD6_uc001nqr.2_Missense_Mutation_p.Y454F|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Intron NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 486 Cytoplasmic (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 GACTCAGACTATGAGCACTAT 0.627 Pancreas(169;904 2017 4767 38890 42505) NA 119 70 0 0 0.01441 0 0 AHNAK 79026 broad.mit.edu 37 11 62298829 62298829 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:62298829C>A uc001ntl.2 - 5 3360 c.3060G>T c.(3058-3060)GTG>GTT p.V1020V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1020 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGACAGGTTCACATCAAATT 0.463 NA 61 62 1.4709e-25 2.5836e-25 0.01441 1 0 STIP1 10963 broad.mit.edu 37 11 63965045 63965045 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:63965045G>C uc001nyk.1 + 7 1027 c.880G>C c.(880-882)GAA>CAA p.E294Q STIP1_uc010rnb.1_Missense_Mutation_p.E270Q NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 294 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 AGAAAACCGAGAAGACTATCG 0.498 NA 7 25 0 0 0.001984 0 0 TM7SF2 7108 broad.mit.edu 37 11 64882402 64882402 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:64882402C>T uc001oct.2 + 7 888 c.741C>T c.(739-741)ACC>ACT p.T247T TM7SF2_uc010rny.1_Silent_p.T131T|TM7SF2_uc001ocu.2_Silent_p.T247T|TM7SF2_uc001ocv.2_Silent_p.T268T|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 247 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 TCCTCACCACCATGGATATCA 0.617 NA 70 158 0 0 0.01441 0 0 FOSL1 8061 broad.mit.edu 37 11 65664372 65664372 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:65664372T>A uc001ogg.1 - 2 392 c.205A>T c.(205-207)ACC>TCC p.T69S FOSL1_uc010ros.1_Intron NM_005438 NP_005429 P15407 FOSL1_HUMAN FOS-like antigen 1 69 cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 READ - Rectum adenocarcinoma(159;0.168) TGAGGGTAGGTCAGAGGCCTG 0.632 NA 24 50 0 0 0.014323 0 0 CD248 57124 broad.mit.edu 37 11 66084155 66084155 + Missense_Mutation SNP G G T rs140616335 byFrequency TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:66084155G>T uc001ohm.1 - 1 361 c.344C>A c.(343-345)ACC>AAC p.T115N NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 115 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GGCCCAGTTGGTGAAAGCCGT 0.716 NA 13 28 1.49906e-05 1.74333e-05 0.00245 1 0 NPAS4 266743 broad.mit.edu 37 11 66189700 66189700 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:66189700C>G uc001ohx.1 + 2 461 c.285C>G c.(283-285)CTC>CTG p.L95L NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 95 PAS 1. transcription, DNA-dependent DNA binding|signal transducer activity 0 GGAAATTGCTCTACCTGTCTG 0.597 NA 37 70 0 0 0.011902 0 0 NPAS4 266743 broad.mit.edu 37 11 66189949 66189949 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:66189949A>T uc001ohx.1 + 3 531 c.355A>T c.(355-357)ATC>TTC p.I119F NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 119 PAS 1. transcription, DNA-dependent DNA binding|signal transducer activity 0 GGGTGACAGCATCTACGACAT 0.547 NA 28 76 0 0 0.009535 0 0 CARNS1 57571 broad.mit.edu 37 11 67186368 67186368 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:67186368C>G uc009yrp.2 + 4 589 c.137C>G c.(136-138)CCG>CGG p.P46R PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpq.1_Missense_Mutation_p.P185R|CARNS1_uc010rpr.1_Missense_Mutation_p.P169R|CARNS1_uc001olc.3_Missense_Mutation_p.P185R NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 46 carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 TTTGTCCCCCCGCGCCGTGCC 0.687 NA 3 16 0 0 0.004672 0 0 PDE2A 5138 broad.mit.edu 37 11 72292014 72292014 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:72292014G>A uc010rrc.1 - 24 2292 c.2049C>T c.(2047-2049)GAC>GAT p.D683D PDE2A_uc001oso.2_Silent_p.D662D|PDE2A_uc010rra.1_Silent_p.D676D|PDE2A_uc001osn.2_Silent_p.D427D|PDE2A_uc010rrb.1_Silent_p.D674D|PDE2A_uc010rrd.1_Silent_p.D568D NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 683 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGATCTCGATGTCCCTGGTTG 0.522 NA 17 36 0 0 0.007413 0 0 MAP6 4135 broad.mit.edu 37 11 75298562 75298562 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:75298562C>G uc001owu.2 - 4 2049 c.1984G>C c.(1984-1986)GGT>CGT p.G662R NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 662 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) ACCATGGAACCTTGATTCTTT 0.498 Esophageal Squamous(181;1115 2007 8647 17065 22697) NA 18 187 0 0 0.00499 0 0 SYTL2 54843 broad.mit.edu 37 11 85445402 85445402 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:85445402G>A uc010rth.1 - 6 1243 c.967C>T c.(967-969)CCA>TCA p.P323S SYTL2_uc010rtg.1_Missense_Mutation_p.P324S|SYTL2_uc010rti.1_Missense_Mutation_p.P323S|SYTL2_uc010rtj.1_Missense_Mutation_p.P275S|SYTL2_uc001pbf.3_Missense_Mutation_p.P323S|SYTL2_uc010rtf.1_Missense_Mutation_p.P181S NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 323 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AGGGAGTTTGGGGAAGAGTTG 0.448 NA 50 102 0 0 0.01441 0 0 TYR 7299 broad.mit.edu 37 11 88911910 88911910 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:88911910C>A uc001pcs.2 + 1 871 c.789C>A c.(787-789)CTC>CTA p.L263L NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 263 Lumenal, melanosome (Potential). 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) CTAACTTACTCAGCCCAGCAT 0.458 NA Oculocutaneous_Albinism 21 54 3.83957e-06 4.59934e-06 0.00278 1 0 TYR 7299 broad.mit.edu 37 11 89028412 89028412 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:89028412G>C uc001pcs.2 + 5 1550 c.1468G>C c.(1468-1470)GCC>CCC p.A490P NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 490 Helical; (Potential). 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) CGTCCTCACTGCCCTGCTGGC 0.537 NA Oculocutaneous_Albinism 25 84 0 0 0.009535 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421795 89421795 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:89421795C>A uc001pda.2 + 10 1178 c.652C>A c.(652-654)CAA>AAA p.Q218K NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 218 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGTGTTCTTCCAACGACTTGG 0.313 NA 62 137 1.21526e-53 2.25122e-53 0.01441 1 0 CHORDC1 26973 broad.mit.edu 37 11 89947237 89947237 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:89947237T>C uc001pdg.2 - 4 688 c.278A>G c.(277-279)CAG>CGG p.Q93R CHORDC1_uc009yvz.2_Missense_Mutation_p.Q74R NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 93 Interaction with HSP90AA1 and HSP90AB1 (By similarity). chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) GATGTGTTCCTGAAATTTGGG 0.378 NA 45 143 0 0 0.01441 0 0 GPR83 10888 broad.mit.edu 37 11 94126755 94126755 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:94126755G>C uc001pet.2 - 3 715 c.543C>G c.(541-543)ATC>ATG p.I181M NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 181 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTGTGATTGAGATCCGGGGTT 0.413 NA 23 73 0 0 0.003954 0 0 MMP13 4322 broad.mit.edu 37 11 102822815 102822815 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:102822815G>C uc001phl.2 - 5 753 c.725C>G c.(724-726)CCT>CGT p.P242R NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 242 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GGTGTAGATAGGAAACATGAG 0.453 NA 63 174 0 0 0.01441 0 0 ANKK1 255239 broad.mit.edu 37 11 113266829 113266829 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:113266829C>T uc001pny.2 + 5 817 c.723C>T c.(721-723)GGC>GGT p.G241G NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 241 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) TGGCGGCAGGCATGCGGCCCT 0.597 NA 14 57 0 0 0.001855 0 0 AMICA1 120425 broad.mit.edu 37 11 118081381 118081381 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:118081381C>A uc001psk.2 - 4 419 c.245G>T c.(244-246)GGG>GTG p.G82V AMICA1_uc001psh.2_Missense_Mutation_p.G43V|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.G72V|AMICA1_uc001psj.2_Missense_Mutation_p.G82V|AMICA1_uc010rxw.1_Missense_Mutation_p.G43V|AMICA1_uc010rxx.1_Missense_Mutation_p.G82V|AMICA1_uc001psl.1_Missense_Mutation_p.G38V NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 82 Ig-like V-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTGGAAGCGCCCAATAGGCAC 0.498 NA 34 93 1.06647e-15 1.68941e-15 0.003755 1 0 OR6T1 219874 broad.mit.edu 37 11 123814283 123814283 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:123814283C>A uc010sab.1 - 1 263 c.263G>T c.(262-264)GGG>GTG p.G88V NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GGTGTGATCCCCCGTGAGGAT 0.498 NA 30 79 3.99451e-17 6.43296e-17 0.009535 1 0 ZBTB44 29068 broad.mit.edu 37 11 130131495 130131495 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:130131495C>T uc001qga.2 - 2 668 c.274G>A c.(274-276)GCC>ACC p.A92T ZBTB44_uc001qgb.3_Missense_Mutation_p.A92T|ZBTB44_uc001qfx.2_RNA|ZBTB44_uc001qgc.1_Missense_Mutation_p.A92T|ZBTB44_uc001qfz.2_Missense_Mutation_p.A92T NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 92 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) GATAGAGTGGCTGTGTAAGCA 0.408 NA 19 50 0 0 0.006122 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343194 130343194 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:130343194G>T uc010scd.1 + 8 2331 c.2331G>T c.(2329-2331)GAG>GAT p.E777D NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 777 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCATCCTGGAGCCGCTGACCG 0.677 NA 31 75 7.26314e-15 1.12687e-14 0.007291 1 0 NCAPD3 23310 broad.mit.edu 37 11 134086941 134086941 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr11:134086941C>A uc001qhd.1 - 3 877 c.271G>T c.(271-273)GCA>TCA p.A91S NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 91 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TAGAACAATGCCACCAGTGTA 0.403 NA 13 39 4.36969e-10 5.97309e-10 0.001855 1 0 RAD52 5893 broad.mit.edu 37 12 1025913 1025913 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:1025913T>G uc001qis.1 - 8 731 c.617A>C c.(616-618)AAC>ACC p.N206T RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.N129T|RAD52_uc001qiu.1_Missense_Mutation_p.N206T|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Missense_Mutation_p.N206T NM_134424 NP_602296 P43351 RAD52_HUMAN RAD52 homolog 206 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TCGGCAGCTGTTGTATCTTGC 0.527 NA Homologous_recombination 33 75 0 0 0.012213 0 0 FGF23 8074 broad.mit.edu 37 12 4479814 4479814 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:4479814G>T uc001qmq.1 - 3 597 c.451C>A c.(451-453)CCA>ACA p.P151T NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 151 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TACGGGGGTGGGTTCATGCCT 0.617 NA 38 92 3.33393e-15 5.24456e-15 0.004878 1 0 GALNT8 26290 broad.mit.edu 37 12 4829883 4829883 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:4829883G>T uc001qne.1 + 1 132 c.40G>T c.(40-42)GGG>TGG p.G14W NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 14 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 CCTCTTCATTGGGCTGACTCT 0.512 Colon(108;631 1558 7270 20097 39846) NA 23 83 3.5997e-14 5.50925e-14 0.014323 1 0 KCNA6 3742 broad.mit.edu 37 12 4920341 4920341 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:4920341G>T uc001qng.2 + 1 2000 c.1134G>T c.(1132-1134)CTG>CTT p.L378L NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 378 Helical; Name=Segment S5; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 AGCTGGGGCTGCTCATCTTCT 0.597 NA HNSCC(72;0.22) 8 71 0.000274275 0.000306357 0.004482 1 0 KCNA5 3741 broad.mit.edu 37 12 5154413 5154413 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:5154413C>A uc001qni.2 + 1 1329 c.1100C>A c.(1099-1101)CCC>CAC p.P367H NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 367 Helical; Name=Segment S3; (Potential). Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GCCATCTTCCCCTACTTCATC 0.622 NA 25 77 3.7963e-18 6.20216e-18 0.00333 1 0 CD163L1 283316 broad.mit.edu 37 12 7531657 7531657 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:7531657T>C uc001qsy.2 - 9 2314 c.2288A>G c.(2287-2289)GAA>GGA p.E763G CD163L1_uc010sge.1_Missense_Mutation_p.E773G NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 763 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GAGAGAGGCTTCCCCTCCAGT 0.448 NA 34 79 0 0 0.013726 0 0 FAM90A1 55138 broad.mit.edu 37 12 8377324 8377324 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:8377324G>T uc001qui.2 - 4 664 c.105C>A c.(103-105)CCC>CCA p.P35P FAM90A1_uc001quh.2_Silent_p.P35P NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 35 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) CTTCTTCATCGGGCGGGGGAG 0.652 NA 8 10 5.18039e-06 6.17277e-06 0.00308 1 0 CLEC9A 283420 broad.mit.edu 37 12 10218183 10218183 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:10218183G>T uc001qxa.2 + 9 1291 c.678G>T c.(676-678)ACG>ACT p.T226T NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 226 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 ACTGCAGCACGTGGAAGTATT 0.423 NA 52 93 1.46357e-32 2.64614e-32 0.01441 1 0 OLR1 4973 broad.mit.edu 37 12 10312555 10312555 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:10312555C>G uc001qxo.1 - 6 860 c.746G>C c.(745-747)GGA>GCA p.G249A OLR1_uc010sgz.1_3'UTR|OLR1_uc010sha.1_3'UTR NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 249 Extracellular (Potential).|C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 ATAAACAGCTCCTCGTTGTAT 0.428 NA 37 128 0 0 0.004289 0 0 KLRK1 22914 broad.mit.edu 37 12 10531201 10531201 + Nonsense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:10531201A>T uc009zhj.2 - 6 545 c.381T>A c.(379-381)TGT>TGA p.C127* uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Nonsense_Mutation_p.C127*|KLRK1_uc009zhk.2_Nonsense_Mutation_p.C127*|KLRK1_uc001qyd.2_Nonsense_Mutation_p.C127* NM_007360 NP_031386 P26718 NKG2D_HUMAN NKG2-D type II integral membrane protein 127 Extracellular (Potential).|C-type lectin. natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding 0 TTTGAGACATACAAGAAGCCT 0.368 NA 26 63 0 0 0.005443 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716296 13716296 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:13716296C>A uc001rbt.2 - 13 4055 c.3876G>T c.(3874-3876)AAG>AAT p.K1292N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1292 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCGGTTCTTCTTCTGGGCCT 0.622 NA 41 83 1.15183e-24 2.00756e-24 0.009718 1 0 CAPZA3 93661 broad.mit.edu 37 12 18891415 18891415 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:18891415C>A uc001rdy.2 + 1 371 c.213C>A c.(211-213)CTC>CTA p.L71L PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 71 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ATCCAGTACTCTTGTCTCACC 0.428 NA 49 92 4.18559e-23 7.18438e-23 0.01441 1 0 SLCO1C1 53919 broad.mit.edu 37 12 20890206 20890206 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:20890206T>C uc001rej.3 + 12 1903 c.1548T>C c.(1546-1548)ATT>ATC p.I516I SLCO1C1_uc010sii.1_Silent_p.I516I|SLCO1C1_uc010sij.1_Silent_p.I467I|SLCO1C1_uc009zip.2_Silent_p.I350I|SLCO1C1_uc001rei.2_Silent_p.I516I|SLCO1C1_uc010sik.1_Silent_p.I398I NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 516 Extracellular (Potential).|Kazal-like. 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) GAAAAAATATTGTAAGAAATC 0.423 NA 20 52 0 0 0.007413 0 0 GYS2 2998 broad.mit.edu 37 12 21721852 21721852 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:21721852G>T uc001rfb.2 - 5 1025 c.770C>A c.(769-771)ACG>AAG p.T257K NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 257 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TTCAGAAACCGTGGTGAACAC 0.438 Colon(149;9 1820 3690 10544 50424) NA 26 85 1.64293e-13 2.47535e-13 0.00333 1 0 Unknown 0 broad.mit.edu 37 12 31284361 31284361 + Silent SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:31284361A>G uc010sjy.1 - 22 2916 c.2916T>C c.(2914-2916)TAT>TAC p.Y972Y RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA AGTCCAGAACATAAGTATCAG 0.413 NA 4 40 0 0 0.009096 0 0 ZNF641 121274 broad.mit.edu 37 12 48737288 48737288 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:48737288C>A uc001rrn.1 - 6 950 c.785G>T c.(784-786)AGA>ATA p.R262I ZNF641_uc001rro.1_Missense_Mutation_p.R248I|ZNF641_uc010sls.1_Missense_Mutation_p.R239I NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 262 Transactivation. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TGTGTGGGGTCTTAACAGGGA 0.542 NA 31 44 1.56442e-22 2.65169e-22 0.012213 1 0 TROAP 10024 broad.mit.edu 37 12 49724266 49724266 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:49724266G>T uc001rtx.3 + 13 1805 c.1638G>T c.(1636-1638)GAG>GAT p.E546D TROAP_uc009zlh.2_Missense_Mutation_p.E546D|TROAP_uc001rty.2_Missense_Mutation_p.E254D NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 546 Cys-rich.|4 X 33 AA approximate tandem repeats.|1. cell adhesion cytoplasm ovary(1) 1 AAGTACCAGAGCCCTACCCTC 0.622 NA 25 60 2.41591e-17 3.91627e-17 0.004656 1 0 KRT85 3891 broad.mit.edu 37 12 52758891 52758891 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:52758891G>T uc001sag.2 - 2 604 c.484C>A c.(484-486)CGC>AGC p.R162S NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 162 Rod.|Linker 1. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCAGCAGCGCTGGTTCTGG 0.622 NA 35 76 3.86903e-22 6.50918e-22 0.013726 1 0 HOXC12 3228 broad.mit.edu 37 12 54348814 54348814 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:54348814C>T uc010soq.1 + 1 101 c.101C>T c.(100-102)GCG>GTG p.A34V NM_173860 NP_776272 P31275 HXC12_HUMAN homeobox C12 34 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GCGTCCGGGGCGCAGCTTCCC 0.657 NA 11 24 0 0 0.010729 0 0 HOXC10 3226 broad.mit.edu 37 12 54379592 54379592 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:54379592C>A uc001sen.2 + 1 647 c.549C>A c.(547-549)CGC>CGA p.R183R NM_017409 NP_059105 Q9NYD6 HXC10_HUMAN homeobox C10 183 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 TCAACCCGCGCGCCGAACATC 0.642 NA 11 31 4.3838e-07 5.50411e-07 0.001855 1 0 OR6C1 390321 broad.mit.edu 37 12 55715043 55715043 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:55715043C>A uc010spi.1 + 1 660 c.660C>A c.(658-660)ATC>ATA p.I220I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TATACATTATCAGAACAATTT 0.388 NA 27 36 2.79863e-10 3.85665e-10 0.004656 1 0 ESYT1 23344 broad.mit.edu 37 12 56531347 56531347 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:56531347G>A uc001sjq.2 + 18 2053 c.2003G>A c.(2002-2004)GGA>GAA p.G668E ESYT1_uc001sjr.2_Missense_Mutation_p.G678E NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 668 C2 3. integral to membrane ovary(4)|skin(1) 5 TTCTTGGGGGGACTGGTGAAG 0.547 NA 24 194 0 0 0.00333 0 0 TBK1 29110 broad.mit.edu 37 12 64875778 64875778 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:64875778G>C uc001ssc.1 + 8 1031 c.969G>C c.(967-969)AAG>AAC p.K323N NM_013254 NP_037386 Q9UHD2 TBK1_HUMAN TANK-binding kinase 1 323 Ubiquitin-like. I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|large_intestine(1)|breast(1) 5 GBM - Glioblastoma multiforme(28;0.0386) CAGCTCATAAGATTTATATTC 0.294 NA 3 42 0 0 0.004672 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026208 72026208 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:72026208C>A uc001swo.2 - 15 3263 c.2904G>T c.(2902-2904)CGG>CGT p.R968R NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 968 Potential. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GCTTTTGTAACCGTCTTTTCT 0.378 NA 55 43 3.50607e-19 5.78373e-19 0.01441 1 0 NAV3 89795 broad.mit.edu 37 12 78591054 78591054 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:78591054G>T uc001syp.2 + 35 6492 c.6319G>T c.(6319-6321)GCT>TCT p.A2107S NAV3_uc001syo.2_Missense_Mutation_p.A2085S|NAV3_uc010sub.1_Missense_Mutation_p.A1564S|NAV3_uc009zsf.2_Missense_Mutation_p.A916S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2107 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGCTAACCTGGCTGAACAGTG 0.348 NA HNSCC(70;0.22) 21 24 4.4004e-07 5.51474e-07 0.00333 1 0 Unknown 0 broad.mit.edu 37 12 80762012 80762012 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:80762012G>A uc009zsg.1 + 9 752 c.151G>A c.(151-153)GAT>AAT p.D51N uc001szd.2_Missense_Mutation_p.D190N RecName: Full=Uncharacterized protein C12orf64; NA ATCCCCAAGTGATTATGGTTG 0.358 NA 4 6 0 0 0.009096 0 0 C12orf48 55010 broad.mit.edu 37 12 102589845 102589845 + Nonsense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:102589845A>T uc001tjf.2 + 11 1628 c.1516A>T c.(1516-1518)AAA>TAA p.K506* C12orf48_uc001tjg.2_Nonsense_Mutation_p.K425*|C12orf48_uc010swa.1_Nonsense_Mutation_p.K583*|C12orf48_uc001tjh.2_Nonsense_Mutation_p.K425*|C12orf48_uc010swb.1_3'UTR|C12orf48_uc009zuc.2_Nonsense_Mutation_p.K60*|C12orf48_uc001tjj.2_Nonsense_Mutation_p.K221*|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_3'UTR NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 506 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 GACAGGAAATAAAAGCTCAAA 0.328 NA 29 12 0 0 0.007291 0 0 SSH1 54434 broad.mit.edu 37 12 109186491 109186491 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:109186491C>A uc001tnm.2 - 14 1551 c.1464G>T c.(1462-1464)CCG>CCT p.P488P SSH1_uc001tnl.2_Silent_p.P176P|SSH1_uc010sxg.1_Silent_p.P499P|SSH1_uc001tnn.3_Silent_p.P488P NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 488 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 GCTGGCTTTCCGGGGTGCCAT 0.652 NA 26 23 2.79863e-10 3.85665e-10 0.004656 1 0 DNAH10 196385 broad.mit.edu 37 12 124393958 124393958 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:124393958G>T uc001uft.3 + 57 9637 c.9612G>T c.(9610-9612)TCG>TCT p.S3204S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3204 Stalk (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) ATTTTGATTCGATTACCCAGA 0.512 NA 4 14 0.00024832 0.000278283 0.009096 1 0 DNAH10 196385 broad.mit.edu 37 12 124409644 124409644 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:124409644C>T uc001uft.3 + 67 11485 c.11460C>T c.(11458-11460)TAC>TAT p.Y3820Y DNAH10_uc001ufu.3_Translation_Start_Site NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3820 TPR 4. 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) CCTTGGGTTACGATAACAACA 0.473 NA 4 74 0 0 0.000602 0 0 UBC 7316 broad.mit.edu 37 12 125397907 125397907 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:125397907G>C uc001ugs.3 - 2 859 c.411C>G c.(409-411)ATC>ATG p.I137M UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.I137M|UBC_uc001ugt.2_Missense_Mutation_p.I137M|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Translation_Start_Site NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 137 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) ACTCTTTCTGGATGTTGTAGT 0.552 NA 29 175 0 0 0.010771 0 0 P2RX2 22953 broad.mit.edu 37 12 133196643 133196643 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:133196643T>G uc001ukj.1 + 5 515 c.515T>G c.(514-516)GTG>GGG p.V172G P2RX2_uc001uki.1_Missense_Mutation_p.V172G|P2RX2_uc001ukk.1_Missense_Mutation_p.V172G|P2RX2_uc001ukl.1_Missense_Mutation_p.V148G|P2RX2_uc001ukm.1_Missense_Mutation_p.V100G|P2RX2_uc001ukn.1_Missense_Mutation_p.V80G|P2RX2_uc009zyt.1_Missense_Mutation_p.V172G|P2RX2_uc001uko.1_Silent_p.G136G NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 172 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) ACCTGCGAGGTGTTCGGCTGG 0.677 NA 4 4 0 0 0.009096 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751104 19751104 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:19751104G>T uc009zzj.2 - 4 1068 c.1019C>A c.(1018-1020)ACC>AAC p.T340N NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 340 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) AAACTGGATGGTGCGCTTGGT 0.527 NA 13 64 7.93312e-07 9.79719e-07 0.00245 1 0 RNF17 56163 broad.mit.edu 37 13 25352513 25352513 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:25352513A>T uc001upr.2 + 4 439 c.398A>T c.(397-399)AAG>ATG p.K133M RNF17_uc010tdd.1_Translation_Start_Site|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K133M|RNF17_uc001ups.2_Missense_Mutation_p.K72M|RNF17_uc001upq.1_Missense_Mutation_p.K133M NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 133 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCACAGACAAGACTCTTTTG 0.378 NA 19 58 0 0 0.007413 0 0 FLT3 2322 broad.mit.edu 37 13 28599082 28599082 + Splice_Site SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:28599082T>C uc001urw.2 - 18 2290 c.2208_splice c.e18-1 p.S736_splice FLT3_uc010aao.2_Splice_Site|FLT3_uc010tdn.1_Splice_Site_p.S736_splice NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGGCATGCTATTAAAAAAT 0.299 NA Mis|O AML|ALL 3 96 0 0 0.004672 0 0 MTUS2 23281 broad.mit.edu 37 13 29599271 29599271 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:29599271G>T uc001usl.3 + 1 524 c.466G>T c.(466-468)GTT>TTT p.V156F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 146 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CAGTCTAGACGTTTTGGCTAA 0.507 NA 11 86 2.68362e-12 3.87126e-12 0.013537 1 0 STARD13 90627 broad.mit.edu 37 13 33686964 33686964 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:33686964C>T uc001uuw.2 - 9 2512 c.2386G>A c.(2386-2388)GTC>ATC p.V796I STARD13_uc001uuu.2_Missense_Mutation_p.V788I|STARD13_uc001uuv.2_Missense_Mutation_p.V678I|STARD13_uc001uux.2_Missense_Mutation_p.V761I|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 796 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AAGTTGACGACGTCGTTCAGG 0.542 NA 58 74 0 0 0.01441 0 0 FREM2 341640 broad.mit.edu 37 13 39262601 39262601 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:39262601G>C uc001uwv.2 + 1 1429 c.1120G>C c.(1120-1122)GAT>CAT p.D374H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 374 CSPG 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGTGAGCACCGATGATCGCAG 0.577 NA 29 81 0 0 0.009535 0 0 HTR2A 3356 broad.mit.edu 37 13 47409356 47409356 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:47409356G>T uc001vbq.2 - 3 1166 c.1032C>A c.(1030-1032)ATC>ATA p.I344I HTR2A_uc001vbr.2_Silent_p.I244I|HTR2A_uc010acr.2_Silent_p.I344I NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 344 Helical; Name=6; (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGACGGCCATGATGTTTGTGA 0.493 NA 6 80 0.00116845 0.00128189 0.001168 1 0 FARP1 10160 broad.mit.edu 37 13 99042284 99042284 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:99042284T>G uc001vnj.2 + 10 1265 c.929T>G c.(928-930)GTT>GGT p.V310G FARP1_uc001vnh.2_Missense_Mutation_p.V310G NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 310 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAAATCTGTGTTGAACATCAT 0.483 NA 30 125 0 0 0.008361 0 0 ABHD13 84945 broad.mit.edu 37 13 108881888 108881888 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:108881888G>T uc001vqq.2 + 2 587 c.322G>T c.(322-324)GGA>TGA p.G108* NM_032859 NP_116248 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 108 integral to membrane hydrolase activity ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ACGATACACTGGAGACAATTC 0.388 Pancreas(22;506 789 38166 45896 51596) NA 10 41 1.76689e-08 2.32612e-08 0.006214 1 0 MYO16 23026 broad.mit.edu 37 13 109459025 109459025 + Splice_Site SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:109459025A>G uc001vqt.1 + 7 802 c.676_splice c.e7-2 p.L226_splice MYO16_uc010agk.1_Splice_Site_p.L248_splice|MYO16_uc001vqu.1_Splice_Site_p.L26_splice NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCTTCGCTGCAGTTACACATG 0.423 NA 14 38 0 0 0.001855 0 0 OR4L1 122742 broad.mit.edu 37 14 20528375 20528375 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:20528375C>A uc001vwn.1 + 1 172 c.172C>A c.(172-174)CCC>ACC p.P58T NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CCTTCATTCTCCCTTGTACTT 0.423 NA 65 139 1.1794e-34 2.13806e-34 0.01441 1 0 OXA1L 5018 broad.mit.edu 37 14 23237370 23237370 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:23237370C>T uc001wgn.2 + 3 609 c.609C>T c.(607-609)GCC>GCT p.A203A OXA1L_uc010tnc.1_Silent_p.A203A|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.A203A|OXA1L_uc001wgp.2_Silent_p.A127A|OXA1L_uc001wgq.2_5'UTR NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 143 Helical; (Potential). aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) GGTGGGGGGCCATTGCTGCAT 0.488 NA 20 41 0 0 0.008871 0 0 MYH6 4624 broad.mit.edu 37 14 23855735 23855735 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:23855735T>A uc001wjv.2 - 33 4815 c.4748A>T c.(4747-4749)GAG>GTG p.E1583V NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1583 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTCCATCTCCTCGTCCTTCTC 0.632 NA 74 203 0 0 0.01441 0 0 AKAP6 9472 broad.mit.edu 37 14 33291371 33291371 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:33291371C>T uc001wrq.2 + 13 4522 c.4352C>T c.(4351-4353)CCT>CTT p.P1451L NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1451 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) AAACATACCCCTGACTGTTTG 0.363 Melanoma(49;821 1200 7288 13647 42351) NA 10 44 0 0 0.008291 0 0 SSTR1 6751 broad.mit.edu 37 14 38679167 38679167 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:38679167C>A uc001wul.1 + 3 1190 c.573C>A c.(571-573)CCC>CCA p.P191P SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 191 Helical; Name=4; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TCATCCTGCCCATCGTGGTCT 0.657 NA 11 40 7.03913e-09 9.48813e-09 0.013537 1 0 FANCM 57697 broad.mit.edu 37 14 45645710 45645710 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:45645710T>C uc001wwd.3 + 14 3852 c.3753T>C c.(3751-3753)GAT>GAC p.D1251D FANCM_uc010anf.2_Silent_p.D1225D|FANCM_uc001wwe.3_Silent_p.D787D|FANCM_uc010ang.2_Silent_p.D465D NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1251 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 ATACATCAGATAGCAATAGAC 0.328 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 24 52 0 0 0.00278 0 0 C14orf118 55668 broad.mit.edu 37 14 76633041 76633041 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:76633041G>T uc001xsh.2 + 3 784 c.698G>T c.(697-699)GGG>GTG p.G233V C14orf118_uc001xsi.2_Missense_Mutation_p.G233V|C14orf118_uc001xsj.1_Missense_Mutation_p.G233V|C14orf118_uc001xsk.1_Missense_Mutation_p.G233V|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 233 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) AGTGACACTGGGCTCTTTACC 0.428 NA 6 43 0.00116845 0.00128189 0.001168 1 0 GALC 2581 broad.mit.edu 37 14 88431915 88431915 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:88431915C>G uc001xvt.2 - 9 1366 c.967G>C c.(967-969)GGG>CGG p.G323R GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.G297R|GALC_uc010tvy.1_Missense_Mutation_p.G300R|GALC_uc010tvz.1_Missense_Mutation_p.G267R|GALC_uc001xvu.1_Missense_Mutation_p.G323R NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 323 G -> R (in GLD). carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 GTCATCAACCCGCATCTCCCA 0.448 NA 20 54 0 0 0.008871 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413167 105413167 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:105413167G>T uc010axc.1 - 7 8741 c.8621C>A c.(8620-8622)GCT>GAT p.A2874D AHNAK2_uc001ypx.2_Missense_Mutation_p.A2774D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2874 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCTGGCCAGCCTGGACCTC 0.627 NA 63 303 4.17052e-40 7.64219e-40 0.01441 1 0 AHNAK2 113146 broad.mit.edu 37 14 105420366 105420366 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:105420366G>T uc010axc.1 - 7 1542 c.1422C>A c.(1420-1422)GGC>GGA p.G474G AHNAK2_uc001ypx.2_Silent_p.G374G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 474 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAATCTGTGTGCCTCCTTCGG 0.522 NA 27 55 2.61193e-14 4.00654e-14 0.009535 1 0 AHNAK2 113146 broad.mit.edu 37 14 105420648 105420648 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:105420648C>A uc010axc.1 - 7 1260 c.1140G>T c.(1138-1140)AGG>AGT p.R380S AHNAK2_uc001ypx.2_Missense_Mutation_p.R280S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 380 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGTTCTGCCCTCTCCTCTC 0.632 NA 30 86 1.06801e-11 1.50857e-11 0.009535 1 0 TMEM121 80757 broad.mit.edu 37 14 105995420 105995420 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr14:105995420C>T uc001yrp.1 + 2 400 c.249C>T c.(247-249)ATC>ATT p.I83I ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank NM_025268 NP_079544 Q9BTD3 TM121_HUMAN hole protein 83 Helical; (Potential). integral to membrane 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) TCCTTTACATCTTCGTGCTGG 0.557 NA 4 17 0 0 0.000602 0 0 BCL8 606 broad.mit.edu 37 15 20874950 20874950 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:20874950T>C uc010tze.1 - 3 395 c.188A>G c.(187-189)TAT>TGT p.Y63C BCL8_uc010tzd.1_RNA NR_027992 RecName: Full=Putative protein BCL8; 0 CAAATATGTATATAGGGAAAG 0.279 NA 10 45 0 0 0.006214 0 0 C15orf2 23742 broad.mit.edu 37 15 24921596 24921596 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:24921596C>A uc001ywo.2 + 1 1056 c.582C>A c.(580-582)ACC>ACA p.T194T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 194 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCCAGGGCACCCAGGGAGACG 0.582 NA 8 16 0.00307968 0.00334084 0.00308 1 0 RYR3 6263 broad.mit.edu 37 15 33822838 33822838 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:33822838G>C uc001zhi.2 + 4 395 c.325G>C c.(325-327)GTT>CTT p.V109L RYR3_uc010bar.2_Missense_Mutation_p.V109L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 109 Cytoplasmic (By similarity).|MIR 1. 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) CGGCCATGCAGTTCTCCTGAG 0.527 NA 7 18 0 0 0.004482 0 0 C15orf23 90417 broad.mit.edu 37 15 40675518 40675518 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:40675518C>T uc001zll.2 + 2 414 c.299C>T c.(298-300)CCG>CTG p.P100L C15orf23_uc010ucp.1_Missense_Mutation_p.P100L|C15orf23_uc001zlo.2_Missense_Mutation_p.P100L|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 100 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GGCGGCCAGCCGGCAGGTGAG 0.682 NA 7 10 0 0 0.00308 0 0 TYRO3 7301 broad.mit.edu 37 15 41864678 41864678 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:41864678C>T uc001zof.1 + 15 2015 c.1791C>T c.(1789-1791)CCC>CCT p.P597P NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 597 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCGTCTCCCCATCCCCATGG 0.597 NA 8 62 0 0 0.00308 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42379517 42379517 + Missense_Mutation SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:42379517A>C uc001zox.2 - 3 331 c.236T>G c.(235-237)CTT>CGT p.L79R NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 79 C2. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) ACTTTGGATAAGGAAACGGAA 0.562 NA 3 114 0 0 0.004672 0 0 PRTG 283659 broad.mit.edu 37 15 55916678 55916678 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:55916678C>G uc002adg.2 - 18 3003 c.2955G>C c.(2953-2955)CAG>CAC p.Q985H NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 985 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) GAGTTCCATTCTGTGCCGTCT 0.433 NA 7 33 0 0 0.00308 0 0 PRTG 283659 broad.mit.edu 37 15 55964743 55964743 + Silent SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:55964743A>T uc002adg.2 - 11 1989 c.1941T>A c.(1939-1941)GCT>GCA p.A647A PRTG_uc002adh.2_Silent_p.A149A NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 647 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) AGCCCTGAATAGCAGCTGTGT 0.488 NA 31 38 0 0 0.008361 0 0 Unknown 0 broad.mit.edu 37 15 76074505 76074505 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:76074505G>T uc010umm.1 + 8 684 c.607G>T c.(607-609)GTG>TTG p.V203L uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; NA GAACGCACACGTGACACAGGT 0.577 NA 9 18 1.12685e-05 1.32181e-05 0.004482 1 0 ZNF774 342132 broad.mit.edu 37 15 90903397 90903397 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr15:90903397G>T uc002bpk.3 + 4 520 c.334G>T c.(334-336)GAG>TAG p.E112* NM_001004309 NP_001004309 Q6NX45 ZN774_HUMAN zinc finger protein 774 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGGAAACTGGGAGCAAGGCCT 0.473 NA 16 25 2.23348e-06 2.70895e-06 0.004007 1 0 C16orf11 146325 broad.mit.edu 37 16 613968 613968 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:613968C>A uc002chk.2 + 2 953 c.674C>A c.(673-675)CCC>CAC p.P225H NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 225 Pro-rich. central_nervous_system(1) 1 TACTTGGGGCCCTCACTGGCC 0.731 NA 3 3 0.004672 0.00501999 0.004672 1 0 A2BP1 54715 broad.mit.edu 37 16 7760649 7760649 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:7760649G>A uc002cys.2 + 16 2084 c.1096G>A c.(1096-1098)GCC>ACC p.A366T A2BP1_uc002cyt.2_Missense_Mutation_p.A339T|A2BP1_uc010uyb.1_Missense_Mutation_p.A366T|A2BP1_uc002cyw.2_3'UTR|A2BP1_uc002cyy.2_Missense_Mutation_p.A387T|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Missense_Mutation_p.A360T NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 366 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TTTGACTGATGCCAAGACTAG 0.408 NA 44 61 0 0 0.011902 0 0 OTOA 146183 broad.mit.edu 37 16 21739679 21739679 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:21739679G>T uc002djh.2 + 19 2135 c.2134G>T c.(2134-2136)GGC>TGC p.G712C uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.G633C|OTOA_uc002dji.2_Missense_Mutation_p.G388C|OTOA_uc010vbk.1_Missense_Mutation_p.G360C NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 726 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) TGCTCTACACGGCCTCAGAGA 0.597 NA 13 17 2.31682e-05 2.68056e-05 0.003163 1 0 SALL1 6299 broad.mit.edu 37 16 51176050 51176050 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:51176050G>T uc010vgs.1 - 2 114 c.83C>A c.(82-84)ACA>AAA p.T28K SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 28 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) ACCCTTTTCTGTGTCTCCTAC 0.463 GBM(103;1352 1446 1855 4775 8890) NA 40 94 6.45866e-13 9.5195e-13 0.00874 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53672256 53672256 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:53672256T>G uc002ehp.2 - 20 3090 c.3026A>C c.(3025-3027)GAA>GCA p.E1009A RPGRIP1L_uc002eho.3_Intron|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E1009A|RPGRIP1L_uc010cbx.2_Intron|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E1009A NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 1009 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) CATATTAATTTCTATTTCTGG 0.338 NA 7 51 0 0 0.001984 0 0 GNAO1 2775 broad.mit.edu 37 16 56377844 56377844 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:56377844G>T uc002eit.3 + 8 1944 c.1047G>T c.(1045-1047)CGG>CGT p.R349R GNAO1_uc002eiu.3_Intron NM_138736 NP_620073 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 349 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) AAAACCTGCGGGGCTGTGGAC 0.622 NA 18 33 5.26018e-13 7.7869e-13 0.012319 1 0 AMFR 267 broad.mit.edu 37 16 56438863 56438863 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:56438863G>A uc002eiy.2 - 6 1003 c.798C>T c.(796-798)CTC>CTT p.L266L AMFR_uc002eix.2_5'Flank NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 266 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 ACAGGAGAGTGAGCTCCATGA 0.478 Pancreas(2;144 323 39528) NA 7 37 0 0 0.001984 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163128 72163128 + Missense_Mutation SNP C C A rs34703574 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:72163128C>A uc002fcc.3 - 13 1974 c.1802G>T c.(1801-1803)AGG>ATG p.R601M PMFBP1_uc002fcd.2_Missense_Mutation_p.R596M|PMFBP1_uc002fce.2_Intron|PMFBP1_uc002fcf.2_Missense_Mutation_p.R451M|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 601 Potential. ovary(2) 2 Ovarian(137;0.179) GCCTTGCTCCCTGTGCTGAAA 0.433 NA 39 239 1.67305e-13 2.50957e-13 0.00623 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76486440 76486440 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:76486440T>A uc002feu.1 + 10 1492 c.1107T>A c.(1105-1107)TCT>TCA p.S369S CNTNAP4_uc002fev.1_Silent_p.S233S|CNTNAP4_uc010chb.1_Silent_p.S296S|CNTNAP4_uc002fex.1_Silent_p.S372S|CNTNAP4_uc002few.2_Silent_p.S344S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 369 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 AACCACAATCTATGCCCGTGA 0.383 NA 19 100 0 0 0.012319 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513434 76513434 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:76513434C>A uc002feu.1 + 14 2266 c.1881C>A c.(1879-1881)ACC>ACA p.T627T CNTNAP4_uc002fev.1_Silent_p.T491T|CNTNAP4_uc010chb.1_Silent_p.T554T|CNTNAP4_uc002fex.1_Silent_p.T630T|CNTNAP4_uc002few.2_Silent_p.T602T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 627 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GCAATATGACCGGTGAGTTAA 0.338 NA 22 105 7.45023e-12 1.05896e-11 0.010504 1 0 PKD1L2 114780 broad.mit.edu 37 16 81181898 81181898 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:81181898G>A uc002fgh.1 - 29 4818 c.4818C>T c.(4816-4818)CCC>CCT p.P1606P PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1606 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGAGGTTGATGGGGAACATGA 0.552 NA 11 45 0 0 0.008291 0 0 JPH3 57338 broad.mit.edu 37 16 87678336 87678336 + Silent SNP C C A rs112449440 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr16:87678336C>A uc002fkd.2 + 2 1109 c.855C>A c.(853-855)ACC>ACA p.T285T JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 285 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCACCACCACCGAGACCTACG 0.672 NA 15 41 0.000422831 0.000471513 0.004007 1 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:7576855G>A uc002gim.2 - 9 1185 c.991C>T c.(991-993)CAG>TAG p.Q331* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 331 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (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.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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) CTTAGTACCTGAAGGGTGAAA 0.448 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) 20 35 0 0 0.012319 0 0 PIK3R6 146850 broad.mit.edu 37 17 8770949 8770949 + Translation_Start_Site SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:8770949C>A uc002glq.1 - 1 46 c.-194G>T c.(-196--192)GAGGC>GATGC PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 platelet activation cytosol 0 TTGGGGGAGCCTCCACGGGTG 0.587 NA 11 19 2.80697e-09 3.79866e-09 0.010729 1 0 MYH13 8735 broad.mit.edu 37 17 10222405 10222405 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:10222405A>G uc002gmk.1 - 27 3530 c.3440T>C c.(3439-3441)CTG>CCG p.L1147P NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1147 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 GATCTCCTCCAGTTCCCTGGC 0.552 NA 54 80 0 0 0.01441 0 0 CYTSB 92521 broad.mit.edu 37 17 20107987 20107987 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:20107987G>T uc002gwq.2 + 4 770 c.625G>T c.(625-627)GGC>TGC p.G209C CYTSB_uc010cqx.2_Missense_Mutation_p.G209C|CYTSB_uc002gwr.2_Missense_Mutation_p.G209C|CYTSB_uc002gws.2_Missense_Mutation_p.G209C|CYTSB_uc002gwv.2_Missense_Mutation_p.G128C|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_5'UTR|CYTSB_uc002gwt.2_Missense_Mutation_p.G128C|CYTSB_uc002gwu.2_Missense_Mutation_p.G128C NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 209 nucleus 0 TGATGCTTTGGGCCCAAATGT 0.438 NA 48 94 9.22156e-22 1.54758e-21 0.01441 1 0 KIAA0100 9703 broad.mit.edu 37 17 26965369 26965369 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:26965369G>A uc002hbu.2 - 13 1512 c.1413C>T c.(1411-1413)TGC>TGT p.C471C NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 471 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CCACACGCCAGCAGAGGTGGT 0.567 NA 14 29 0 0 0.001855 0 0 SEZ6 124925 broad.mit.edu 37 17 27306716 27306716 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:27306716G>A uc002hdp.2 - 3 1034 c.840C>T c.(838-840)GGC>GGT p.G280G SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.G280G|SEZ6_uc002hdq.1_Silent_p.G155G|SEZ6_uc010crz.1_Silent_p.G280G NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 280 Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCACGCCATAGCCAGGGTAGA 0.542 NA 4 21 0 0 0.009096 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27935036 27935036 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:27935036G>T uc002hei.2 + 3 396 c.283G>T c.(283-285)GAG>TAG p.E95* ANKRD13B_uc002heh.2_Intron|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 95 ANK 2. 0 CCGGGACCTGGAGCTGGTGCA 0.662 NA 18 22 1.02788e-11 1.45492e-11 0.00499 1 0 NF1 4763 broad.mit.edu 37 17 29661882 29661882 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:29661882G>T uc002hgg.2 + 40 6172 c.5839G>T c.(5839-5841)GAA>TAA p.E1947* NF1_uc002hgh.2_Nonsense_Mutation_p.E1926*|NF1_uc010cso.2_Nonsense_Mutation_p.E135*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1947 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CCTTTGTTTGGAATACATGAC 0.333 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 35 4.68919e-08 6.09056e-08 0.008291 1 0 SLFN12L 342615 broad.mit.edu 37 17 33849347 33849347 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:33849347G>A uc002hjn.2 - 2 931 c.52C>T c.(52-54)CAC>TAC p.H18Y NM_001145027 NP_001138499 schlafen family member 12-like ovary(1) 1 AGAATTCTGTGTGCCTCACAG 0.393 NA 7 42 0 0 0.001984 0 0 AP2B1 163 broad.mit.edu 37 17 34044368 34044368 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:34044368G>T uc002hjr.2 + 20 2928 c.2739G>T c.(2737-2739)ACG>ACT p.T913T AP2B1_uc002hjq.2_Silent_p.T927T|AP2B1_uc010wci.1_Silent_p.T889T|AP2B1_uc002hjs.2_Silent_p.T856T|AP2B1_uc002hjt.2_Silent_p.T927T|AP2B1_uc010ctv.2_Silent_p.T927T|AP2B1_uc010wcj.1_Silent_p.T664T NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 913 Interaction with ARRB1. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CCAATTACACGGTAAGGCCTT 0.493 NA 14 90 1.5739e-10 2.19568e-10 0.004007 1 0 CCL15 6359 broad.mit.edu 37 17 34328476 34328476 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:34328476G>T uc010wcu.1 - 1 625 c.56C>A c.(55-57)TCC>TAC p.S19Y CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA NM_032965 NP_116741 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 precursor 19 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGGCCTGGGATCCAAGGAC 0.587 NA 4 30 0.00909568 0.00968112 0.009096 1 0 HOXB4 3214 broad.mit.edu 37 17 46654118 46654118 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:46654118G>T uc002inp.2 - 2 784 c.722C>A c.(721-723)CCT>CAT p.P241H HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN homeobox B4 241 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGGCCGGCCAGGGGGCCCTCC 0.682 NA 10 39 7.48243e-07 9.29137e-07 0.006214 1 0 KIF2B 84643 broad.mit.edu 37 17 51900967 51900967 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:51900967C>A uc002iua.2 + 1 729 c.573C>A c.(571-573)ATC>ATA p.I191I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 191 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TGCACATGATCGAAGAGTATC 0.582 NA 12 54 2.27111e-07 2.88354e-07 0.013537 1 0 KIF2B 84643 broad.mit.edu 37 17 51901301 51901301 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:51901301G>T uc002iua.2 + 1 1063 c.907G>T c.(907-909)GGG>TGG p.G303W uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 303 ATP (By similarity).|Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTTTGCCTATGGGCAGACGGG 0.552 NA 23 55 3.83957e-06 4.59934e-06 0.00278 1 0 EFCAB3 146779 broad.mit.edu 37 17 60484501 60484501 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:60484501G>A uc002izu.1 + 8 873 c.795G>A c.(793-795)GAG>GAA p.E265E EFCAB3_uc010wpc.1_Silent_p.E317E NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 265 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) AGAAATTAGAGATGCTAAGAA 0.368 NA 26 66 0 0 0.003954 0 0 SMARCD2 6603 broad.mit.edu 37 17 61914849 61914849 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:61914849C>T uc010deb.1 - 2 670 c.353G>A c.(352-354)CGC>CAC p.R118H SMARCD2_uc010wpt.1_Missense_Mutation_p.R70H|SMARCD2_uc010dea.1_Missense_Mutation_p.R43H|SMARCD2_uc010dec.1_Missense_Mutation_p.R97H NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 118 Pro-rich. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 CACAAGCAGGCGTTTTCGGAA 0.632 NA 38 79 0 0 0.011902 0 0 RGS9 8787 broad.mit.edu 37 17 63200369 63200369 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:63200369C>G uc002jfe.2 + 15 1263 c.1153C>G c.(1153-1155)CGC>GGC p.R385G RGS9_uc010dem.2_Missense_Mutation_p.R382G|RGS9_uc002jfd.2_Missense_Mutation_p.R382G|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R156G NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 385 RGS. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 GCACCCCCACCGCTATGTGCT 0.587 NA 4 38 0 0 0.000602 0 0 ABCA10 10349 broad.mit.edu 37 17 67212137 67212137 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:67212137G>T uc010dfa.1 - 9 1556 c.677C>A c.(676-678)GCA>GAA p.A226E ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.A118E NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 226 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GAAAGCCAATGCTATCTGAAG 0.368 NA 6 55 0.00116845 0.00128189 0.001168 1 0 GPR142 350383 broad.mit.edu 37 17 72368430 72368430 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:72368430G>T uc010wqy.1 + 4 1080 c.1080G>T c.(1078-1080)CTG>CTT p.L360L GPR142_uc010wqx.1_Silent_p.L272L NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 360 Helical; Name=6; (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CCATCCTCCTGGGCATCACCA 0.667 NA 20 58 1.15919e-05 1.35739e-05 0.008871 1 0 OTOP2 92736 broad.mit.edu 37 17 72926892 72926892 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:72926892G>C uc010wrp.1 + 7 1251 c.1162G>C c.(1162-1164)GTG>CTG p.V388L NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 388 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) CTACTCCATCGTGGCTGTGGT 0.617 NA 7 27 0 0 0.001984 0 0 KIAA0195 9772 broad.mit.edu 37 17 73488697 73488697 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:73488697C>T uc002jnz.3 + 15 2014 c.1739C>T c.(1738-1740)ACC>ATC p.T580I KIAA0195_uc010wsa.1_Missense_Mutation_p.T590I|KIAA0195_uc010wsb.1_Missense_Mutation_p.T220I|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 580 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) CTGCACCTCACCTCCCTCAAA 0.592 NA 13 62 0 0 0.013537 0 0 CANT1 124583 broad.mit.edu 37 17 76993507 76993507 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:76993507G>A uc002jwn.2 - 4 637 c.198C>T c.(196-198)CCC>CCT p.P66P CANT1_uc002jwk.2_Silent_p.P66P|CANT1_uc002jwj.2_Silent_p.P66P|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 66 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GGGGCCTGCCGGGGGCCGGGC 0.682 NA T ETV4 prostate 8 33 0 0 0.00308 0 0 LPIN2 9663 broad.mit.edu 37 18 2931392 2931392 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:2931392C>A uc002klo.2 - 9 1557 c.1318G>T c.(1318-1320)GGC>TGC p.G440C NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 440 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GACTGGGAGCCAGAGAGTGTG 0.572 NA 5 5 5.9392e-07 7.4158e-07 0.001168 1 0 LAMA1 284217 broad.mit.edu 37 18 6943237 6943237 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:6943237T>C uc002knm.2 - 62 9103 c.9009A>G c.(9007-9009)CCA>CCG p.P3003P LAMA1_uc002knk.2_Silent_p.P333P|LAMA1_uc002knl.2_Silent_p.P456P|LAMA1_uc010wzj.1_Silent_p.P2479P NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 3003 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGGGTGTGTGGACTTTCAG 0.493 NA 36 50 0 0 0.004289 0 0 KIAA0802 23255 broad.mit.edu 37 18 8783547 8783547 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:8783547G>T uc002knr.2 + 6 579 c.437G>T c.(436-438)AGG>ATG p.R146M KIAA0802_uc002knq.2_Missense_Mutation_p.R146M|KIAA0802_uc010dkw.1_Translation_Start_Site NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 497 0 GCCGATTTGAGGTGCCAGCTC 0.517 NA 8 11 3.09899e-07 3.91998e-07 0.004482 1 0 PTPN2 5771 broad.mit.edu 37 18 12814257 12814257 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:12814257G>A uc002krp.2 - 7 997 c.803C>T c.(802-804)TCA>TTA p.S268L PTPN2_uc002krl.2_Missense_Mutation_p.S268L|PTPN2_uc002krn.2_Missense_Mutation_p.S291L|PTPN2_uc002kro.2_Missense_Mutation_p.S268L|PTPN2_uc002krm.2_Missense_Mutation_p.S268L NM_002828 NP_002819 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 268 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding skin(2) 2 Lung NSC(161;8.94e-06) AGCCATGTATGAGAATCTCAG 0.323 NA 9 25 0 0 0.006214 0 0 CDH2 1000 broad.mit.edu 37 18 25573585 25573585 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:25573585G>A uc002kwg.2 - 8 1496 c.1037C>T c.(1036-1038)ACG>ATG p.T346M CDH2_uc010xbn.1_Missense_Mutation_p.T315M NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 346 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 AATTATTAACGTATACTGTTG 0.373 NA 55 68 0 0 0.01441 0 0 DSC3 1825 broad.mit.edu 37 18 28602364 28602364 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:28602364G>C uc002kwj.3 - 7 1035 c.880C>G c.(880-882)CTC>GTC p.L294V DSC3_uc002kwi.3_Missense_Mutation_p.L294V NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 294 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) ACAGAAAAGAGCCCAGGTGAC 0.498 NA 26 48 0 0 0.003954 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44266155 44266155 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr18:44266155C>G uc002lcj.1 - 5 1119 c.551G>C c.(550-552)AGC>ACC p.S184T ST8SIA5_uc002lci.1_Missense_Mutation_p.S31T|ST8SIA5_uc010xcy.1_Missense_Mutation_p.S220T|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S153T NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 184 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GAAGTCGGCGCTGTTGATCTC 0.577 NA 11 20 0 0 0.013537 0 0 DOT1L 84444 broad.mit.edu 37 19 2216346 2216346 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:2216346C>G uc002lvb.3 + 20 2026 c.1990C>G c.(1990-1992)CCG>GCG p.P664A DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 664 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) GTCCTGTGTGCCGCCTGACGA 0.677 NA 12 27 0 0 0.013537 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2396584 2396584 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:2396584C>T uc010xgx.1 + 2 190 c.190C>T c.(190-192)CGG>TGG p.R64W TMPRSS9_uc002lvv.1_Missense_Mutation_p.R64W NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 64 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) GGCCGAGCTGCGGGGAATCCG 0.662 NA 6 4 0 0 0.001168 0 0 PLIN4 729359 broad.mit.edu 37 19 4512005 4512005 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:4512005G>T uc002mar.1 - 3 1925 c.1925C>A c.(1924-1926)ACC>AAC p.T642N PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 642 27 X 33 AA approximate tandem repeat.|17. lipid particle|plasma membrane 0 GATATTTTGGGTCGTTTTCAG 0.562 NA 48 86 1.89013e-27 3.36353e-27 0.01441 1 0 SAFB2 9667 broad.mit.edu 37 19 5587938 5587938 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:5587938C>A uc002mcd.2 - 19 2791 c.2579G>T c.(2578-2580)CGC>CTC p.R860L NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 860 Interacts with SAFB1.|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CTGCCAGGCGCGTGCCTGGTG 0.667 Ovarian(127;888 1728 23957 44128 52668) NA 7 9 1.12685e-05 1.32181e-05 0.004482 1 0 FBN3 84467 broad.mit.edu 37 19 8131064 8131064 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:8131064G>A uc002mjf.2 - 63 8190 c.8169C>T c.(8167-8169)ATC>ATT p.I2723I FBN3_uc002mje.2_Silent_p.I519I NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2723 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGAGCTCCAGGATGCGCTCGG 0.652 NA 10 12 0 0 0.010729 0 0 ZNF266 10781 broad.mit.edu 37 19 9524200 9524200 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:9524200C>A uc002mll.2 - 4 1667 c.1401G>T c.(1399-1401)ATG>ATT p.M467I ZNF266_uc002mlm.2_Missense_Mutation_p.M467I|ZNF266_uc002mln.2_Missense_Mutation_p.M467I|ZNF266_uc002mlo.2_Missense_Mutation_p.M467I|ZNF266_uc010dwp.2_Missense_Mutation_p.M467I|ZNF266_uc010dwq.2_Missense_Mutation_p.M467I NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 467 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGCCACATTCCATACACGTGA 0.448 NA 8 29 0.00448238 0.00483156 0.004482 1 0 ZNF560 147741 broad.mit.edu 37 19 9578911 9578911 + Nonsense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:9578911T>A uc002mlp.1 - 10 922 c.712A>T c.(712-714)AGA>TGA p.R238* ZNF560_uc010dwr.1_Nonsense_Mutation_p.R132* NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 GTGTTGCCTCTATTTTGAGTA 0.388 NA 41 38 0 0 0.006999 0 0 SMARCA4 6597 broad.mit.edu 37 19 11105642 11105642 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:11105642G>T uc002mqf.3 + 9 1842 c.1558G>T c.(1558-1560)GAG>TAG p.E520* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E520*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E520*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.E520*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E520*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E520*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E520*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E520*|SMARCA4_uc002mqe.2_Nonsense_Mutation_p.E520* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 520 HSA. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAAAGAGAACGAGCGGATCGA 0.567 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 9 13 1.12685e-05 1.32181e-05 0.004482 1 0 MYO9B 4650 broad.mit.edu 37 19 17296811 17296811 + Splice_Site SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:17296811G>T uc010eak.2 + 18 2729 c.2577_splice c.e18+1 p.K859_splice MYO9B_uc002nfi.2_Splice_Site_p.K859_splice|MYO9B_uc002nfj.1_Splice_Site_p.K859_splice NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 TGCTGAAAAGGTGAGTTTCTC 0.552 NA 25 47 1.08971e-26 1.92905e-26 0.00632 1 0 UNC13A 23025 broad.mit.edu 37 19 17752261 17752261 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:17752261C>T uc002nhd.2 - 21 2841 c.2841G>A c.(2839-2841)CAG>CAA p.Q947Q NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 859 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CCACAATCTCCTGGGCTGTCT 0.562 NA 19 20 0 0 0.007413 0 0 GATAD2A 54815 broad.mit.edu 37 19 19611940 19611940 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:19611940G>A uc010xqt.1 + 9 1527 c.1215G>A c.(1213-1215)TCG>TCA p.S405S GATAD2A_uc010xqu.1_Silent_p.S34S|GATAD2A_uc010xqv.1_Silent_p.S425S|GATAD2A_uc010xqw.1_Silent_p.S233S NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 405 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCAGGATGTCGGCCGCCACTG 0.657 NA 4 42 0 0 0.009096 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769817 31769817 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:31769817C>A uc002nsy.3 - 2 947 c.882G>T c.(880-882)ATG>ATT p.M294I NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 294 C2H2-type 2. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTGTTTTGATCATATGGACAC 0.517 NA 36 71 2.20474e-14 3.3973e-14 0.003755 1 0 RHPN2 85415 broad.mit.edu 37 19 33490547 33490547 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:33490547T>A uc002nuf.2 - 10 1236 c.1170A>T c.(1168-1170)CCA>CCT p.P390P RHPN2_uc010xro.1_Silent_p.P239P|RHPN2_uc002nue.2_Silent_p.P120P NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 390 BRO1. signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) TCAGCCCCTCTGGCATGTGGT 0.602 NA 3 18 0 0 0.004672 0 0 ZNF461 92283 broad.mit.edu 37 19 37130585 37130585 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:37130585C>A uc002oem.2 - 6 890 c.662G>T c.(661-663)TGT>TTT p.C221F ZNF461_uc002oen.2_Missense_Mutation_p.C190F|ZNF461_uc010xtj.1_Missense_Mutation_p.C198F NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GCATTCTTTACATTCAGAAAG 0.313 NA 21 29 6.33239e-15 9.84715e-15 0.010504 1 0 ATP5SL 55101 broad.mit.edu 37 19 41939238 41939238 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:41939238G>C uc002oqw.1 - 5 541 c.535C>G c.(535-537)CTC>GTC p.L179V CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Missense_Mutation_p.L185V|ATP5SL_uc010xwa.1_Intron|ATP5SL_uc002oqx.1_Missense_Mutation_p.L152V|ATP5SL_uc002oqy.1_Intron|ATP5SL_uc002oqz.1_Intron|ATP5SL_uc002ora.1_Missense_Mutation_p.L166V|ATP5SL_uc010xwb.1_Missense_Mutation_p.L158V NM_018035 NP_060505 Q9NW81 AT5SL_HUMAN ATP5S-like 179 large_intestine(1)|breast(1) 2 GCCAGCGAGAGCTCCTGCAAC 0.682 NA 7 31 0 0 0.001984 0 0 TMEM145 284339 broad.mit.edu 37 19 42827820 42827820 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:42827820C>A uc002otk.1 + 14 1332 c.1280C>A c.(1279-1281)CCC>CAC p.P427H MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 427 integral to membrane 0 Prostate(69;0.00682) GTCCCTGGACCCGGAGGGAGC 0.622 NA 19 25 4.96729e-08 6.42714e-08 0.008871 1 0 PSG6 5675 broad.mit.edu 37 19 43420611 43420611 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:43420611G>A uc002ovj.1 - 2 145 c.93C>T c.(91-93)CCC>CCT p.P31P PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Silent_p.P31P|PSG6_uc002ovg.1_Silent_p.P31P NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 31 female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GGGCAGTGGTGGGCAGGTTCC 0.468 NA 82 102 0 0 0.01441 0 0 ZNF235 9310 broad.mit.edu 37 19 44792248 44792248 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:44792248T>C uc002oza.3 - 5 1443 c.1340A>G c.(1339-1341)CAT>CGT p.H447R ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H443R|ZNF235_uc010xwx.1_Missense_Mutation_p.H361R NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 447 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) CTGATGGGTATGAAGATTTGA 0.398 NA 37 47 0 0 0.005524 0 0 GPR4 2828 broad.mit.edu 37 19 46094361 46094361 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:46094361G>T uc002pcm.2 - 2 1709 c.764C>A c.(763-765)CCC>CAC p.P255H OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 255 Extracellular (Potential). P -> L (in Ref. 5; BAF83387). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCAGTCCCAGGGGCGGCCCAG 0.627 Esophageal Squamous(117;181 1612 1673 14956 42937) NA 14 32 1.5842e-08 2.09374e-08 0.001855 1 0 CCDC61 729440 broad.mit.edu 37 19 46509878 46509878 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:46509878G>T uc002pdw.2 + 5 464 c.464G>T c.(463-465)CGC>CTC p.R155L NM_001080402 NP_001073871 coiled-coil domain containing 61 p.R155S(1) ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CTGCGGAACCGCAAGATGGGG 0.632 NA 17 18 9.16793e-09 1.22601e-08 0.00499 1 0 MEIS3 56917 broad.mit.edu 37 19 47912735 47912735 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:47912735C>T uc002pgu.2 - 7 1114 c.667G>A c.(667-669)GGG>AGG p.G223R MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.G22R|MEIS3_uc002pgp.2_Missense_Mutation_p.G55R|MEIS3_uc002pgq.2_Missense_Mutation_p.G304R|MEIS3_uc002pgr.2_Missense_Mutation_p.G91R|MEIS3_uc002pgt.2_Missense_Mutation_p.G206R|MEIS3_uc002pgv.2_Missense_Mutation_p.G206R|MEIS3_uc002pgs.2_Missense_Mutation_p.G223R|MEIS3_uc010eld.2_Missense_Mutation_p.G223R NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 223 Ser/Thr-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GCCAGGCCCCCACTGGATGGA 0.502 NA 23 37 0 0 0.003954 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48519179 48519179 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:48519179T>A uc002pht.2 + 4 393 c.238T>A c.(238-240)TAT>AAT p.Y80N NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 precursor 80 Fibronectin type-II 2. single fertilization extracellular region 0 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) CCCTTTCATCTATCGAGGAAA 0.468 NA 26 29 0 0 0.004656 0 0 PRMT1 3276 broad.mit.edu 37 19 50189881 50189881 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:50189881G>T uc010enf.1 + 10 972 c.930G>T c.(928-930)ACG>ACT p.T310T PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.T286T|PRMT1_uc002ppe.2_Silent_p.T292T|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.T257T|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 291 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CCCCGTACACGCACTGGAAGC 0.677 NA 16 18 1.15088e-07 1.47225e-07 0.004007 1 0 LILRB2 10288 broad.mit.edu 37 19 54780746 54780746 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:54780746C>A uc002qfb.2 - 10 1664 c.1398G>T c.(1396-1398)TTG>TTT p.L466F LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L466F|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L465F|LILRB2_uc010yet.1_Missense_Mutation_p.L350F NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 466 Helical; (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGACGGCCACCAAGATGCCGA 0.393 NA 19 32 1.45105e-14 2.24103e-14 0.006122 1 0 USP29 57663 broad.mit.edu 37 19 57640280 57640280 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:57640280C>A uc002qny.2 + 4 593 c.237C>A c.(235-237)AAC>AAA p.N79K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 79 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAAAAACAACGTGTTCTTGT 0.333 NA 10 18 0.000673444 0.00074607 0.008291 1 0 RSAD2 91543 broad.mit.edu 37 2 7035912 7035912 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:7035912C>A uc002qyp.1 + 6 1061 c.925C>A c.(925-927)CGC>AGC p.R309S NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 309 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) TTTCTAGATGCGCTTTCTGAA 0.368 NA 8 41 0.00307968 0.00334084 0.00308 1 0 ROCK2 9475 broad.mit.edu 37 2 11484250 11484250 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:11484250G>A uc002rbd.1 - 1 462 c.13C>T c.(13-15)CCG>TCG p.P5S NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 5 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CCCGTCGGCGGGGGCCGGCTC 0.766 NA 3 5 0 0 0.009096 0 0 MYCN 4613 broad.mit.edu 37 2 16082194 16082194 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:16082194G>T uc002rci.2 + 2 308 c.8G>T c.(7-9)AGC>ATC p.S3I MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_5'UTR NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 3 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CCGATGCCGAGCTGCTCCACG 0.632 NA A neuroblastoma 5 25 3.59834e-05 4.1491e-05 0.001168 1 0 RAD51AP2 729475 broad.mit.edu 37 2 17696481 17696481 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:17696481G>T uc002rcl.1 - 1 3226 c.3202C>A c.(3202-3204)CCA>ACA p.P1068T RAD51AP2_uc010exn.1_Missense_Mutation_p.P1059T NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1068 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATCTACTTGGATAACAACTC 0.323 NA 4 20 0.00909568 0.00968112 0.009096 1 0 ITSN2 50618 broad.mit.edu 37 2 24443819 24443819 + Missense_Mutation SNP C C A rs150580767 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:24443819C>A uc002rfe.2 - 30 3952 c.3694G>T c.(3694-3696)GTC>TTC p.V1232F ITSN2_uc002rff.2_Missense_Mutation_p.V1205F|ITSN2_uc002rfg.2_Missense_Mutation_p.V1232F NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1232 DH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCACCTCGACGACGAGCTGA 0.552 NA 18 137 6.49762e-13 9.53547e-13 0.006122 1 0 ALK 238 broad.mit.edu 37 2 29498008 29498008 + Silent SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:29498008G>C uc002rmy.2 - 11 2905 c.1998C>G c.(1996-1998)CCC>CCG p.P666P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 666 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.P666L(1) NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AATTTTCCCCGGGTTTCAGCT 0.463 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 13 54 0 0 0.003163 0 0 ALK 238 broad.mit.edu 37 2 29498359 29498359 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:29498359G>A uc002rmy.2 - 10 2728 c.1821C>T c.(1819-1821)TTC>TTT p.F607F NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 607 MAM 2.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCTGCAGCCAGAACCTGTACA 0.527 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 26 47 0 0 0.00632 0 0 LTBP1 4052 broad.mit.edu 37 2 33246225 33246225 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:33246225C>A uc002ros.2 + 3 815 c.815C>A c.(814-816)ACC>AAC p.T272N NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 272 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATGACCTTAACCCTCAAGCCG 0.498 NA 16 88 6.49762e-13 9.53547e-13 0.006122 1 0 MYADML 151325 broad.mit.edu 37 2 33952176 33952176 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:33952176T>A uc002rpb.2 - 1 1109 c.667A>T c.(667-669)ACG>TCG p.T223S NR_003143 RecName: Full=Myeloid-associated differentiation marker-like protein.; 0 TTGACGGCCGTCAGGTTGGTC 0.587 NA 5 5 0 0 0.001168 0 0 PSME4 23198 broad.mit.edu 37 2 54114547 54114547 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:54114547T>A uc002rxp.2 - 40 4634 c.4578A>T c.(4576-4578)ATA>ATT p.I1526I PSME4_uc010yop.1_Silent_p.I1412I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.I901I|PSME4_uc010fbv.1_Silent_p.I670I|PSME4_uc010fbt.1_Silent_p.I13I NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1526 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CATGAGGCGATATGGTTGGTG 0.378 NA 9 35 0 0 0.004482 0 0 ZNF638 27332 broad.mit.edu 37 2 71577285 71577285 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:71577285G>T uc002shx.2 + 2 1520 c.1201G>T c.(1201-1203)GCC>TCC p.A401S ZNF638_uc010fec.2_Missense_Mutation_p.A507S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.A401S|ZNF638_uc002shy.2_Missense_Mutation_p.A401S|ZNF638_uc002shz.2_Missense_Mutation_p.A401S|ZNF638_uc002sia.2_Missense_Mutation_p.A401S|ZNF638_uc002sib.1_Missense_Mutation_p.A401S NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 401 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ACATGCTGATGCCCAGAAGAT 0.408 NA 20 120 1.00905e-13 1.52708e-13 0.008871 1 0 C2orf78 388960 broad.mit.edu 37 2 74043796 74043796 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:74043796A>G uc002sjr.1 + 3 2567 c.2446A>G c.(2446-2448)AAA>GAA p.K816E NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 816 ovary(2) 2 ATCAGCCTACAAAACATCATC 0.343 NA 6 32 0 0 0.001168 0 0 Unknown 0 broad.mit.edu 37 2 89417281 89417281 + Splice_Site SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:89417281G>A uc010ytr.1 - 41 c.4448_splice c.e41-1 uc002stl.2_Intron Parts of antibodies, mostly variable regions. NA AGGAGCCCCAGGAGCTGAGCG 0.537 NA 6 234 0 0 0.008291 0 0 TMEM131 23505 broad.mit.edu 37 2 98392318 98392318 + Silent SNP C C T rs61745536 by1000genomes TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:98392318C>T uc002syh.3 - 32 4537 c.4308G>A c.(4306-4308)CCG>CCA p.P1436P NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1436 Lys-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 CCTTGAGGAGCGGTTCTGTGT 0.517 NA 4 28 0 0 0.009096 0 0 NPHP1 4867 broad.mit.edu 37 2 110917777 110917777 + Missense_Mutation SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:110917777A>C uc002tfn.3 - 11 1269 c.1175T>G c.(1174-1176)ATG>AGG p.M392R NPHP1_uc002tfm.3_Missense_Mutation_p.M337R|NPHP1_uc002tfl.3_Missense_Mutation_p.M393R|NPHP1_uc002tfo.3_Missense_Mutation_p.M274R|NPHP1_uc010ywx.1_Missense_Mutation_p.M336R|NPHP1_uc010fjv.1_Missense_Mutation_p.M336R NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 392 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 AAGAGGAATCATTTTACAGCT 0.333 NA 5 108 0 0 0.001168 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089652 113089652 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:113089652G>T uc002thq.1 + 12 3551 c.3157G>T c.(3157-3159)GAT>TAT p.D1053Y NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 1053 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 TGACCCTAGGGATCACGGTTC 0.453 NA 11 31 0.000673444 0.00074607 0.008291 1 0 SLC20A1 6574 broad.mit.edu 37 2 113417307 113417307 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:113417307T>C uc002tib.2 + 8 2021 c.1575T>C c.(1573-1575)TTT>TTC p.F525F SLC20A1_uc002tic.1_Silent_p.F337F NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 525 Helical; (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 CAGCCTGCTTTGGGTCATTCG 0.448 NA 55 92 0 0 0.01441 0 0 PTPN4 5775 broad.mit.edu 37 2 120725423 120725423 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:120725423G>A uc002tmf.1 + 26 3340 c.2569G>A c.(2569-2571)GGA>AGA p.G857R PTPN4_uc010flj.1_Missense_Mutation_p.G570R|PTPN4_uc010yyr.1_Missense_Mutation_p.G490R NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 857 Tyrosine-protein phosphatase.|Substrate binding (By similarity). cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) TGCTGGAATCGGAAGAACTGG 0.358 NA 38 90 0 0 0.006999 0 0 GLI2 2736 broad.mit.edu 37 2 121554950 121554950 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:121554950G>T uc010flp.2 + 1 84 c.54G>T c.(52-54)GGG>GGT p.G18G GLI2_uc010yyu.1_Silent_p.G18G|GLI2_uc002tmp.1_Silent_p.G18G|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.3_5'UTR|GLI2_uc002tmu.3_5'UTR|GLI2_uc002tmv.1_Silent_p.G18G|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Silent_p.G18G NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 18 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CCAAAAGTGGGATCCTGGAGG 0.592 NA 55 100 3.76525e-18 6.16627e-18 0.01441 1 0 GLI2 2736 broad.mit.edu 37 2 121708821 121708821 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:121708821C>A uc010flp.2 + 3 287 c.257C>A c.(256-258)CCC>CAC p.P86H GLI2_uc010yyu.1_Missense_Mutation_p.P86H|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.P86H NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 86 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CTCTGCAGGCCCCCTGCCCTC 0.622 NA 47 116 3.76343e-11 5.30479e-11 0.01441 1 0 MYO7B 4648 broad.mit.edu 37 2 128346070 128346070 + Silent SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:128346070A>G uc002top.2 + 15 1847 c.1794A>G c.(1792-1794)GCA>GCG p.A598A NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 598 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGGAGTTAGCAGAGACCAAGC 0.542 NA 12 71 0 0 0.001855 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131883346 131883346 + Nonsense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:131883346A>T uc002tsg.3 + 3 618 c.58A>T c.(58-60)AAG>TAG p.K20* PLEKHB2_uc002tsh.2_Nonsense_Mutation_p.K20*|PLEKHB2_uc002tsj.3_Nonsense_Mutation_p.K20*|PLEKHB2_uc002tsf.3_Nonsense_Mutation_p.K20*|PLEKHB2_uc010zao.1_5'UTR|PLEKHB2_uc010zap.1_Nonsense_Mutation_p.K20*|PLEKHB2_uc010zaq.1_Nonsense_Mutation_p.K20*|PLEKHB2_uc002tsi.3_Nonsense_Mutation_p.K61* NM_001100623 NP_001094093 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B 20 PH. membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.0828) GAAGCGCTGGAAGAAGAACTG 0.313 NA 9 31 0 0 0.004482 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541592 133541592 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:133541592G>T uc002ttp.2 - 14 3166 c.2792C>A c.(2791-2793)CCC>CAC p.P931H NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 931 Poly-Pro. PP -> QS (in Ref. 5; BAA22433). protein binding 0 GCCTGGAGGGGGCGGAGGGGA 0.622 NA 8 30 0.00307968 0.00334084 0.00308 1 0 THSD7B 80731 broad.mit.edu 37 2 138169390 138169390 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:138169390C>A uc002tva.1 + 13 2814 c.2814C>A c.(2812-2814)GCC>GCA p.A938A THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.A828A NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GAGCAGTAGCCTGTTCTGATA 0.512 NA 22 46 7.41877e-09 9.96025e-09 0.012319 1 0 LRP1B 53353 broad.mit.edu 37 2 141625343 141625343 + Silent SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:141625343A>T uc002tvj.1 - 27 5367 c.4395T>A c.(4393-4395)GGT>GGA p.G1465G LRP1B_uc010fnl.1_Silent_p.G647G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1465 Extracellular (Potential).|LDL-receptor class B 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTATTCATGACCTCGGATGA 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 40 57 0 0 0.00874 0 0 SCN7A 6332 broad.mit.edu 37 2 167322326 167322326 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:167322326A>T uc002udu.1 - 7 963 c.836T>A c.(835-837)CTG>CAG p.L279Q SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 279 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCTGTTGTGCAGGGTTTCATT 0.383 NA 16 93 0 0 0.004007 0 0 G6PC2 57818 broad.mit.edu 37 2 169763212 169763212 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:169763212T>G uc002uem.2 + 4 571 c.479T>G c.(478-480)ATT>AGT p.I160S G6PC2_uc002uen.2_Intron|G6PC2_uc010fpv.2_Missense_Mutation_p.I44S NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 160 Helical; (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 TTTTGGTTGATTCAAATCAGT 0.343 NA 38 65 0 0 0.00623 0 0 LRP2 4036 broad.mit.edu 37 2 170063626 170063626 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:170063626T>C uc002ues.2 - 39 6817 c.6604A>G c.(6604-6606)AGA>GGA p.R2202G NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2202 LDL-receptor class B 22.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGAGGTATCTGTTCTTGGGA 0.458 NA 27 127 0 0 0.009535 0 0 SCRN3 79634 broad.mit.edu 37 2 175268882 175268882 + Missense_Mutation SNP G G A rs140532560 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:175268882G>A uc002uiq.2 + 5 681 c.593G>A c.(592-594)CGG>CAG p.R198Q SCRN3_uc010zen.1_Missense_Mutation_p.R191Q|SCRN3_uc010zeo.1_5'UTR NM_024583 NP_078859 Q0VDG4 SCRN3_HUMAN secernin 3 198 proteolysis dipeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.229) AAGATTGCCCGGGAACACCCA 0.398 NA 4 39 0 0 0.000602 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543486 182543486 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:182543486G>A uc002uof.2 - 2 338 c.102C>T c.(100-102)CAC>CAT p.H34H CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 34 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGTCTGCCTCGTGCTCCTCGT 0.498 NA 5 16 0 0 0.000602 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802769 185802769 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:185802769C>A uc002uph.2 + 4 3240 c.2646C>A c.(2644-2646)CAC>CAA p.H882Q NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 882 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGTCTTTCCACCCTAACAATC 0.373 NA 28 58 3.1745e-13 4.70965e-13 0.008361 1 0 ZSWIM2 151112 broad.mit.edu 37 2 187692918 187692918 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:187692918C>A uc002upu.1 - 9 1735 c.1695G>T c.(1693-1695)GAG>GAT p.E565D NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 565 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TCTTGTTGTCCTCTCTTATTT 0.378 NA 12 36 1.5842e-08 2.09374e-08 0.001855 1 0 COL3A1 1281 broad.mit.edu 37 2 189856407 189856407 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:189856407G>C uc002uqj.1 + 13 1027 c.910G>C c.(910-912)GCT>CCT p.A304P COL3A1_uc010frw.1_RNA NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 304 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TCCAAGAGGGGCTCCTGGTGA 0.463 NA 21 166 0 0 0.00333 0 0 HIBCH 26275 broad.mit.edu 37 2 191159310 191159310 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:191159310G>A uc002uru.2 - 4 349 c.266C>T c.(265-267)GCA>GTA p.A89V HIBCH_uc002urv.2_Missense_Mutation_p.A89V NM_014362 NP_055177 Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-Coenzyme A hydrolase isoform 89 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CTTTCCTCCTGCTCCCTTTAT 0.398 NA 21 41 0 0 0.004656 0 0 SDPR 8436 broad.mit.edu 37 2 192700895 192700895 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:192700895G>A uc002utb.2 - 2 1362 c.1032C>T c.(1030-1032)AGC>AGT p.S344S NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 344 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CCACCAGAGCGCTGGCGAGGG 0.562 NA 52 98 0 0 0.01441 0 0 SDPR 8436 broad.mit.edu 37 2 192701129 192701129 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:192701129C>G uc002utb.2 - 2 1128 c.798G>C c.(796-798)GAG>GAC p.E266D NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 266 Potential. caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCTCTCTCCTCTCTACAGATA 0.453 NA 111 207 0 0 0.01441 0 0 CLK1 1195 broad.mit.edu 37 2 201726036 201726036 + Silent SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:201726036A>G uc002uwe.2 - 3 496 c.315T>C c.(313-315)TCT>TCC p.S105S CLK1_uc010zhi.1_Silent_p.S147S|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 105 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity p.S105S(1) pancreas(2) 2 CACTTCTACCAGAAGACTTGC 0.408 NA 52 120 0 0 0.01441 0 0 ADAM23 8745 broad.mit.edu 37 2 207436511 207436511 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:207436511G>T uc002vbq.2 + 17 1850 c.1627G>T c.(1627-1629)GGG>TGG p.G543W ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 543 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CTGCAGCGACGGGCCCTGCTG 0.443 Melanoma(194;1127 2130 19620 24042 27855) NA 23 37 2.21704e-12 3.20501e-12 0.00278 1 0 C2orf80 389073 broad.mit.edu 37 2 209045986 209045986 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:209045986C>G uc002vcr.2 - 5 422 c.250G>C c.(250-252)GAA>CAA p.E84Q NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 84 skin(1) 1 GCTTCTCGTTCTCTACGATTT 0.348 NA 24 40 0 0 0.00278 0 0 ERBB4 2066 broad.mit.edu 37 2 212522492 212522492 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:212522492G>T uc002veg.1 - 16 2031 c.1933C>A c.(1933-1935)CCA>ACA p.P645T ERBB4_uc002veh.1_Missense_Mutation_p.P645T|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Missense_Mutation_p.P645T NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 645 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCATGTTGTGGTAAAGTGGAA 0.408 NA TSP Lung(8;0.080) 13 110 1.52009e-12 2.21639e-12 0.003163 1 0 IKZF2 22807 broad.mit.edu 37 2 213886733 213886733 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:213886733C>G uc002vem.2 - 6 865 c.696G>C c.(694-696)CAG>CAC p.Q232H IKZF2_uc010fuu.2_Missense_Mutation_p.Q87H|IKZF2_uc002vej.2_Missense_Mutation_p.Q179H|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.Q206H|IKZF2_uc002vel.2_Missense_Mutation_p.Q153H|IKZF2_uc010fuw.2_Missense_Mutation_p.Q6H|IKZF2_uc010fux.2_Missense_Mutation_p.Q6H|IKZF2_uc010fuy.2_Intron|IKZF2_uc002ven.2_Missense_Mutation_p.Q206H NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) GACTCATGACCTGCCCAGCAG 0.458 NA 31 60 0 0 0.009535 0 0 TNS1 7145 broad.mit.edu 37 2 218713343 218713343 + Nonsense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:218713343G>A uc002vgt.2 - 17 1920 c.1522C>T c.(1522-1524)CAG>TAG p.Q508* TNS1_uc002vgr.2_Nonsense_Mutation_p.Q508*|TNS1_uc002vgs.2_Nonsense_Mutation_p.Q508*|TNS1_uc010zjv.1_Nonsense_Mutation_p.Q508*|TNS1_uc010fvj.1_Nonsense_Mutation_p.Q576*|TNS1_uc010fvk.1_Nonsense_Mutation_p.Q633*|TNS1_uc010fvi.1_Nonsense_Mutation_p.Q195* NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 508 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TGACCATCCTGGTTTGGCAAT 0.607 NA 17 60 0 0 0.00499 0 0 PTPRN 5798 broad.mit.edu 37 2 220164027 220164027 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:220164027C>A uc002vkz.2 - 11 1692 c.1603G>T c.(1603-1605)GGG>TGG p.G535W PTPRN_uc010zlc.1_Missense_Mutation_p.G445W|PTPRN_uc002vla.2_Missense_Mutation_p.G506W NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 535 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AGATATTTACCTGCTTGTTGG 0.547 NA OREG0015221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 94 2.23348e-06 2.70895e-06 0.004007 1 0 IRS1 3667 broad.mit.edu 37 2 227662710 227662710 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:227662710T>G uc002voh.3 - 1 797 c.745A>C c.(745-747)ATG>CTG p.M249L NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 249 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GTCTCGTGCATGTTCTGGGCC 0.607 NA OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 70 0 0 0.00499 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883814 228883814 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:228883814T>G uc002vpq.2 - 7 1803 c.1756A>C c.(1756-1758)AGT>CGT p.S586R SPHKAP_uc002vpp.2_Missense_Mutation_p.S586R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S586R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 586 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGGCTACCACTTGGAGCCACT 0.562 NA 11 41 0 0 0.008291 0 0 SPHKAP 80309 broad.mit.edu 37 2 229046284 229046284 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:229046284T>A uc002vpq.2 - 1 78 c.31A>T c.(31-33)AGC>TGC p.S11C SPHKAP_uc002vpp.2_Missense_Mutation_p.S11C|SPHKAP_uc010zlx.1_Missense_Mutation_p.S11C NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 11 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGGTCTTACCTTGGTACCGAG 0.547 NA 29 135 0 0 0.007291 0 0 SP100 6672 broad.mit.edu 37 2 231311581 231311581 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:231311581G>T uc002vqt.2 + 5 628 c.487G>T c.(487-489)GAG>TAG p.E163* SP100_uc002vqs.2_Nonsense_Mutation_p.E163*|SP100_uc002vqu.1_Nonsense_Mutation_p.E163*|SP100_uc010zmb.1_Nonsense_Mutation_p.E163*|SP100_uc002vqq.1_Nonsense_Mutation_p.E163*|SP100_uc002vqr.1_Nonsense_Mutation_p.E138*|SP100_uc010zmc.1_Nonsense_Mutation_p.E138*|SP100_uc002vqv.1_Nonsense_Mutation_p.E127* NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 163 Poly-Glu. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGAAGAGAGGGAGGAGAGGTC 0.438 NA 3 14 0.00024832 0.000278283 0.009096 1 0 DGKD 8527 broad.mit.edu 37 2 234365975 234365975 + Splice_Site SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr2:234365975G>C uc002vui.1 + 21 2592 c.2580_splice c.e21+1 p.D860_splice DGKD_uc002vuj.1_Splice_Site_p.D816_splice|DGKD_uc010fyh.1_Missense_Mutation_p.V728L|DGKD_uc010fyi.1_Splice_Site NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GGAAGATGATGTATGTATGGG 0.582 NA 11 59 0 0 0.008291 0 0 SNAP25 6616 broad.mit.edu 37 20 10280043 10280043 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:10280043G>T uc002wnq.1 + 7 747 c.535G>T c.(535-537)GAC>TAC p.D179Y SNAP25_uc002wnr.1_Missense_Mutation_p.D179Y|SNAP25_uc002wns.1_Missense_Mutation_p.D116Y|SNAP25_uc010gca.1_Missense_Mutation_p.D179Y|SNAP25_uc010gcb.1_Missense_Mutation_p.D116Y|SNAP25_uc010gcc.1_Missense_Mutation_p.D73Y NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 179 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) TCGCCAGATCGACAGGATCAT 0.512 NA 20 29 3.99206e-14 6.09598e-14 0.007413 1 0 ZNF133 7692 broad.mit.edu 37 20 18286371 18286371 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:18286371A>T uc010gcq.2 + 3 346 c.41A>T c.(40-42)GAG>GTG p.E14V ZNF133_uc010zrv.1_Missense_Mutation_p.E17V|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Missense_Mutation_p.E14V|ZNF133_uc010zrx.1_Intron|ZNF133_uc002wql.3_Missense_Mutation_p.E14V|ZNF133_uc010gcs.2_Missense_Mutation_p.E14V|ZNF133_uc010zry.1_Intron|ZNF133_uc002wqm.2_Missense_Mutation_p.E14V NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 14 KRAB. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 ACCCAGGATGAGTGGAGGCTG 0.537 NA 16 64 0 0 0.004007 0 0 CD93 22918 broad.mit.edu 37 20 23066072 23066072 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:23066072G>A uc002wsv.2 - 1 906 c.758C>T c.(757-759)TCG>TTG p.S253L NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 253 Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAGGGGGCCCGAGCTGCCCCA 0.602 NA 15 106 0 0 0.003163 0 0 REM1 28954 broad.mit.edu 37 20 30064325 30064326 + Missense_Mutation DNP GG GG TT TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:30064325_30064326GG>TT uc002wwa.2 + 2 361_362 c.77_78GG>TT c.(76-78)CGG>CTT p.R26L NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 26 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTGTCCCCACGGGGCCACCAGC 0.644 NA 9 49 0 0 0.004672 0 0 DUSP15 128853 broad.mit.edu 37 20 30436290 30436290 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:30436290G>C uc002wwu.1 - 10 882 c.805C>G c.(805-807)CCT>GCT p.P269A FOXS1_uc002wwt.1_5'Flank Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 269 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGGTTGCCAGGGGTTGAGGAC 0.642 NA 15 19 0 0 0.003163 0 0 TM9SF4 9777 broad.mit.edu 37 20 30730905 30730905 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:30730905G>T uc002wxj.2 + 6 884 c.649G>T c.(649-651)GAG>TAG p.E217* TM9SF4_uc010ztr.1_Nonsense_Mutation_p.E143*|TM9SF4_uc010zts.1_Nonsense_Mutation_p.E124*|TM9SF4_uc002wxk.2_Nonsense_Mutation_p.E200*|TM9SF4_uc010gdz.2_Nonsense_Mutation_p.E124* NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 217 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATCAGGCTGGAGGGTGAGTG 0.617 NA 11 44 3.07112e-06 3.69843e-06 0.010729 1 0 PLCG1 5335 broad.mit.edu 37 20 39792419 39792419 + Missense_Mutation SNP C C G rs150381500 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:39792419C>G uc002xjp.1 + 10 1077 c.956C>G c.(955-957)CCG>CGG p.P319R PLCG1_uc002xjo.1_Missense_Mutation_p.P319R|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 319 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GCAGTATGCCCGGACACCATG 0.547 NA 18 85 0 0 0.006122 0 0 PTPRT 11122 broad.mit.edu 37 20 40748600 40748600 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:40748600T>A uc002xkg.2 - 20 3043 c.2859A>T c.(2857-2859)CGA>CGT p.R953R PTPRT_uc010ggj.2_Silent_p.R972R|PTPRT_uc010ggi.2_Silent_p.R156R NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 953 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGTGCCGAGGTCGATGGTATC 0.453 NA 38 86 0 0 0.011902 0 0 MMP9 4318 broad.mit.edu 37 20 44639949 44639949 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:44639949A>T uc002xqz.2 + 5 836 c.817A>T c.(817-819)AGC>TGC p.S273C NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 273 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CTTCTGCCCCAGCGAGAGTGA 0.532 NA 22 57 0 0 0.00278 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354645 45354645 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:45354645G>T uc002xsl.2 + 2 1067 c.970G>T c.(970-972)GAC>TAC p.D324Y NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 324 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CGTGCCCATGGACTCAGGCCC 0.652 NA 17 42 1.5739e-10 2.19568e-10 0.004007 1 0 ZNFX1 57169 broad.mit.edu 37 20 47886764 47886764 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:47886764C>T uc002xui.2 - 3 1832 c.1585G>A c.(1585-1587)GAT>AAT p.D529N NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 529 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAGGGAACATCTTCCTCCTGG 0.512 NA 13 117 0 0 0.001855 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886771 47886771 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:47886771C>T uc002xui.2 - 3 1825 c.1578G>A c.(1576-1578)CAG>CAA p.Q526Q NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 526 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CATCTTCCTCCTGGACCTCCT 0.527 NA 12 107 0 0 0.013537 0 0 SALL4 57167 broad.mit.edu 37 20 50408856 50408856 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:50408856C>A uc002xwh.3 - 2 267 c.166G>T c.(166-168)GCG>TCG p.A56S SALL4_uc010gii.2_Missense_Mutation_p.A56S|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 56 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TCCTCACTCGCCACCTCGTCA 0.507 NA 23 61 2.98393e-07 3.78151e-07 0.00278 1 0 MC3R 4159 broad.mit.edu 37 20 54824480 54824480 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:54824480C>T uc002xxb.2 + 1 693 c.581C>T c.(580-582)ACC>ATC p.T194I NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 231 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) TGCCTCATCACCATGTTCTTC 0.582 NA 27 84 0 0 0.004656 0 0 MC3R 4159 broad.mit.edu 37 20 54824808 54824808 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:54824808C>A uc002xxb.2 + 1 1021 c.909C>A c.(907-909)AGC>AGA p.S303R NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 340 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) CTTTCCGGAGCCTGGAATTGC 0.537 NA 49 143 3.50607e-19 5.78373e-19 0.01441 1 0 BMP7 655 broad.mit.edu 37 20 55758937 55758937 + Silent SNP G G T rs148287752 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:55758937G>T uc010gip.1 - 4 1328 c.799C>A c.(799-801)CGG>AGG p.R267R BMP7_uc010giq.1_Intron|BMP7_uc002xyc.2_Silent_p.R267R NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 267 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GGCCCGTGCCGCCCAATCAGG 0.627 NA 9 26 7.48243e-07 9.29137e-07 0.006214 1 0 ZNF831 128611 broad.mit.edu 37 20 57829644 57829644 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:57829644T>C uc002yan.2 + 5 4880 c.4880T>C c.(4879-4881)GTG>GCG p.V1627A NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1627 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AAAGATTCTGTGGTTCCTTCT 0.488 NA 31 62 0 0 0.009535 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981902 61981902 + Silent SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:61981902G>C uc002yes.2 - 5 1039 c.861C>G c.(859-861)GTC>GTG p.V287V CHRNA4_uc002yet.1_Silent_p.V111V|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.V216V|CHRNA4_uc002yev.1_Silent_p.V111V|CHRNA4_uc010gkf.1_Silent_p.V111V NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 287 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GCAGCAGGAAGACGGTGAGCG 0.592 NA 15 51 0 0 0.003163 0 0 CHRNA4 1137 broad.mit.edu 37 20 61982063 61982063 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:61982063T>C uc002yes.2 - 5 878 c.700A>G c.(700-702)ACC>GCC p.T234A CHRNA4_uc002yet.1_Missense_Mutation_p.T58A|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.T163A|CHRNA4_uc002yev.1_Missense_Mutation_p.T58A|CHRNA4_uc010gkf.1_Missense_Mutation_p.T58A NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 234 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) AAGGCATAGGTGATGTCCGGG 0.592 NA 24 50 0 0 0.00632 0 0 TPTE 7179 broad.mit.edu 37 21 10910328 10910328 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr21:10910328C>G uc002yip.1 - 22 1796 c.1428G>C c.(1426-1428)GTG>GTC p.V476V TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.V458V|TPTE_uc002yir.1_Silent_p.V438V|TPTE_uc010gkv.1_Silent_p.V338V NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 476 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTGCACTTTCACATCATCAT 0.343 NA 17 104 0 0 0.008871 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859528 31859528 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr21:31859528C>A uc011acy.1 - 1 140 c.140G>T c.(139-141)AGA>ATA p.R47I NM_181608 NP_853639 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 47 intermediate filament 0 GCCAGTGAATCTATATCTTCT 0.398 NA 40 100 4.07013e-28 7.28113e-28 0.00874 1 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864067 31864067 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr21:31864067G>A uc002yog.1 - 1 209 c.209C>T c.(208-210)TCA>TTA p.S70L NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 70 intermediate filament 0 TCCATAGTATGATGGGCGGTA 0.483 NA 96 130 0 0 0.01441 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253560 32253560 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr21:32253560G>T uc002yov.2 - 1 315 c.284C>A c.(283-285)CCC>CAC p.P95H NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 95 keratin filament structural molecule activity pancreas(1) 1 AGTTGAGCAGGGGTTGGAAAT 0.572 NA 10 58 0.00621372 0.00664495 0.006214 1 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr21:47783764G>T uc002zji.3 + 14 2631 c.2524G>T c.(2524-2526)GAG>TAG p.E842* PCNT_uc002zjj.2_Nonsense_Mutation_p.E724* NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662 NA 15 142 4.75885e-15 7.4515e-15 0.00499 1 0 GAB4 128954 broad.mit.edu 37 22 17447089 17447089 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:17447089C>A uc002zlw.2 - 6 1297 c.1189G>T c.(1189-1191)GGC>TGC p.G397C GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 397 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) AGTGGGGAGCCAAGCAGGTCA 0.602 NA 12 53 3.07112e-06 3.69843e-06 0.010729 1 0 SCARF2 91179 broad.mit.edu 37 22 20781790 20781790 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:20781790G>A uc002zsj.1 - 10 1708 c.1603C>T c.(1603-1605)CCA>TCA p.P535S SCARF2_uc002zsk.1_Missense_Mutation_p.P530S NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 530 Cytoplasmic (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CCTGAGGGTGGCTCCAGGAAG 0.627 NA 17 138 0 0 0.00499 0 0 PIWIL3 440822 broad.mit.edu 37 22 25115791 25115791 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:25115791T>C uc003abd.1 - 20 2873 c.2456A>G c.(2455-2457)TAT>TGT p.Y819C PIWIL3_uc011ajx.1_Missense_Mutation_p.Y701C|PIWIL3_uc011ajy.1_Missense_Mutation_p.Y701C|PIWIL3_uc010gut.1_Missense_Mutation_p.Y810C NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 819 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 AATCGTGTCATAGATGACGTT 0.383 NA 5 68 0 0 0.001984 0 0 NCRNA00207 388910 broad.mit.edu 37 22 44967363 44967363 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:44967363G>A uc003bev.1 + 3 300 c.233G>A c.(232-234)AGG>AAG p.R78K NCRNA00207_uc011aqg.1_RNA|NCRNA00207_uc011aqh.1_RNA NM_001012986 NP_001013004 SubName: Full=Novel gene; 0 CAGCAGAGCAGGCTGGACTGG 0.458 NA 5 29 0 0 0.000602 0 0 PLXNB2 23654 broad.mit.edu 37 22 50724601 50724601 + Splice_Site SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:50724601C>T uc003bkv.3 - 9 1983 c.1877_splice c.e9+1 p.P626_splice NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 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) AAGACACTCACGGCAGGTTCT 0.627 NA 10 86 0 0 0.008291 0 0 ZNF445 353274 broad.mit.edu 37 3 44496980 44496980 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:44496980C>A uc003cnf.2 - 3 410 c.62G>T c.(61-63)GGG>GTG p.G21V ZNF445_uc011azv.1_Missense_Mutation_p.G21V|ZNF445_uc011azw.1_Missense_Mutation_p.G21V NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 21 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CTGAAGCCGCCCTCGCTCCCT 0.577 NA 35 34 2.09667e-21 3.50997e-21 0.003755 1 0 ZDHHC3 51304 broad.mit.edu 37 3 44986781 44986781 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:44986781C>T uc003cod.2 - 3 584 c.310G>A c.(310-312)GCA>ACA p.A104T ZDHHC3_uc003cog.2_Missense_Mutation_p.A104T|ZDHHC3_uc011bad.1_Missense_Mutation_p.A104T NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 isoform 2 104 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TTGGGCACTGCCCCCTGTAGG 0.488 NA 5 152 0 0 0.000602 0 0 DALRD3 55152 broad.mit.edu 37 3 49055934 49055934 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:49055934C>G uc003cvk.1 - 1 84 c.64G>C c.(64-66)GGC>CGC p.G22R DALRD3_uc003cvl.1_Missense_Mutation_p.G22R|DALRD3_uc003cvm.1_Intron|DALRD3_uc010hko.1_5'UTR|DALRD3_uc011bca.1_Missense_Mutation_p.G22R|NDUFAF3_uc003cvn.2_5'Flank|NDUFAF3_uc003cvp.2_5'Flank NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 22 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACCGGACCGCCTGGCCCCAGG 0.682 NA 3 6 0 0 0.004672 0 0 IQCF3 401067 broad.mit.edu 37 3 51864584 51864584 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:51864584C>A uc010hlx.1 + 5 573 c.232C>A c.(232-234)CGG>AGG p.R78R IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA NM_001085479 NP_001078948 P0C7M6 IQCF3_HUMAN IQ motif containing F3 78 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GATCCGTCAGCGGCGGCAGGC 0.647 NA 38 36 2.04263e-09 2.76981e-09 0.004289 1 0 RRP9 9136 broad.mit.edu 37 3 51968721 51968721 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:51968721C>G uc003dbw.1 - 12 1145 c.1106G>C c.(1105-1107)GGA>GCA p.G369A NM_004704 NP_004695 O43818 U3IP2_HUMAN RNA, U3 small nucleolar interacting protein 2 369 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GCCTGGCTCTCCCCGCAGCCC 0.617 NA 41 25 0 0 0.00874 0 0 NEK4 6787 broad.mit.edu 37 3 52802578 52802578 + Nonsense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:52802578C>A uc003dfq.3 - 2 325 c.136G>T c.(136-138)GAG>TAG p.E46* NEK4_uc011bej.1_Intron|NEK4_uc003dfr.2_Nonsense_Mutation_p.E46* NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 46 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) GCTCGCCGCTCTCGGCTAGAG 0.453 NA 77 75 8.70839e-23 1.48723e-22 0.01441 1 0 OR5H15 403274 broad.mit.edu 37 3 97888150 97888150 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:97888150T>A uc011bgu.1 + 1 607 c.607T>A c.(607-609)TCA>ACA p.S203T NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTTATTTTCTCAGGTTCAAT 0.313 NA 7 34 0 0 0.00308 0 0 ALCAM 214 broad.mit.edu 37 3 105266233 105266234 + Splice_Site DNP GG GG TT TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:105266233_105266234GG>TT uc003dvx.2 + 11 1781 c.1241_splice c.e11-1 p.G414_splice ALCAM_uc003dvw.1_Splice_Site_p.G414_splice|ALCAM_uc003dvy.2_Splice_Site_p.G414_splice|ALCAM_uc010hpp.2_Splice_Site_p.G136_splice|ALCAM_uc003dvz.2_Splice_Site_p.G48_splice NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 TAATATTTCAGGCAAACCTCAA 0.322 NA 13 13 0 0 0.004672 0 0 ABHD10 55347 broad.mit.edu 37 3 111700675 111700675 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:111700675C>G uc003dyk.3 + 2 268 c.187C>G c.(187-189)CTT>GTT p.L63V ABHD10_uc011bhq.1_Intron NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 63 mitochondrion serine-type peptidase activity 0 TCGACCAGACCTTCCAAACCT 0.378 NA 63 68 0 0 0.01441 0 0 DRD3 1814 broad.mit.edu 37 3 113866281 113866281 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:113866281C>G uc003ebd.2 - 5 930 c.507G>C c.(505-507)CTG>CTC p.L169L DRD3_uc010hqn.1_Silent_p.L169L|DRD3_uc003ebb.1_Silent_p.L169L|DRD3_uc003ebc.1_Silent_p.L169L NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 169 Helical; Name=4. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TAAAGCCAAACAGAAGAGGGC 0.542 NA 50 63 0 0 0.01441 0 0 C3orf1 51300 broad.mit.edu 37 3 119236107 119236107 + Nonsense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:119236107C>T uc003ecn.2 + 6 865 c.652C>T c.(652-654)CAG>TAG p.Q218* C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA NM_016589 NP_057673 Q9NPL8 TIDC1_HUMAN hypothetical protein LOC51300 218 integral to membrane|mitochondrial inner membrane protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.186) TGAGACTGTTCAGGAAAGAAA 0.478 NA 81 58 0 0 0.01441 0 0 UROC1 131669 broad.mit.edu 37 3 126211293 126211293 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:126211293T>C uc003eiz.1 - 16 1608 c.1576A>G c.(1576-1578)ATT>GTT p.I526V UROC1_uc010hsi.1_Missense_Mutation_p.I586V NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 526 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) GCCTGGTTAATGGCCACAGCG 0.617 NA 11 8 0 0 0.008291 0 0 ZIC4 84107 broad.mit.edu 37 3 147114033 147114033 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:147114033G>T uc003ewd.1 - 3 567 c.294C>A c.(292-294)TAC>TAA p.Y98* ZIC4_uc003ewc.1_Nonsense_Mutation_p.Y28*|ZIC4_uc011bno.1_Nonsense_Mutation_p.Y148* NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 98 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TCATGCCCCCGTAGCCATGCA 0.687 NA 20 17 3.51602e-12 5.05055e-12 0.008871 1 0 C3orf55 152078 broad.mit.edu 37 3 157271098 157271098 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:157271098A>T uc003fbp.3 + 2 220 c.52A>T c.(52-54)ACG>TCG p.T18S C3orf55_uc011bos.1_RNA|C3orf55_uc003fbo.2_Missense_Mutation_p.T18S|C3orf55_uc011bot.1_RNA|C3orf55_uc010hvv.2_Missense_Mutation_p.T18S NM_001130002 NP_001123474 A1A4F0 CC055_HUMAN hypothetical protein LOC152078 isoform 1 18 0 Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037) AAGCACTGATACGTCCGGAGA 0.289 NA 15 3 0 0 0.008871 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906575 164906575 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:164906575G>T uc003fej.3 - 2 2488 c.2044C>A c.(2044-2046)CGT>AGT p.R682S SLITRK3_uc003fek.2_Missense_Mutation_p.R682S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 682 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TTCTTTCGACGCCTTCGGAGC 0.502 NA HNSCC(40;0.11) 24 22 1.17739e-12 1.72413e-12 0.005443 1 0 NLGN1 22871 broad.mit.edu 37 3 173322580 173322580 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:173322580G>T uc003fio.1 + 3 615 c.192G>T c.(190-192)GGG>GGT p.G64G NLGN1_uc010hww.1_Silent_p.G64G|NLGN1_uc003fip.1_Silent_p.G64G NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 64 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGATAAGAGGGATTAAGAAGG 0.453 NA 91 68 5.66823e-36 1.03031e-35 0.01441 1 0 NAALADL2 254827 broad.mit.edu 37 3 175520882 175520882 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:175520882A>T uc003fit.2 + 14 2366 c.2279A>T c.(2278-2280)GAG>GTG p.E760V NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 760 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GCATCAAATGAGACCCTTCAA 0.433 NA 26 24 0 0 0.003954 0 0 RTP2 344892 broad.mit.edu 37 3 187416656 187416656 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:187416656C>A uc003fro.1 - 2 737 c.308G>T c.(307-309)CGG>CTG p.R103L NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 103 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CTCGTCCAGCCGCGCCGTGCC 0.652 NA 14 7 3.27435e-08 4.26925e-08 0.00245 1 0 LSG1 55341 broad.mit.edu 37 3 194366963 194366963 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:194366963C>A uc003fui.2 - 12 1868 c.1553G>T c.(1552-1554)GGA>GTA p.G518V NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 518 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TGTCATGAATCCTCGCATGTC 0.453 NA 18 126 1.67942e-08 2.21526e-08 0.006122 1 0 SDHAP2 727956 broad.mit.edu 37 3 195400795 195400795 + Missense_Mutation SNP C C T rs7615357 by1000genomes TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:195400795C>T uc003fuw.2 + 9 1285 c.91C>T c.(91-93)CGC>TGC p.R31C SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GGGGCAAACTCGCTGTTGGAC 0.592 NA 4 9 0 0 0.000602 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400822 195400822 + Missense_Mutation SNP G G A rs56170658 by1000genomes TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr3:195400822G>A uc003fuw.2 + 9 1312 c.118G>A c.(118-120)GCA>ACA p.A40T SDHAP2_uc011btb.1_Missense_Mutation_p.G187D|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GTCTGGTCAGGCATGTGCCCT 0.567 NA 3 9 0 0 0.000602 0 0 FAM193A 8603 broad.mit.edu 37 4 2698298 2698298 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:2698298G>A uc010icl.2 + 16 2963 c.2612G>A c.(2611-2613)CGA>CAA p.R871Q FAM193A_uc010ick.2_Missense_Mutation_p.R1071Q|FAM193A_uc003gfd.2_Missense_Mutation_p.R871Q|FAM193A_uc011bvm.1_Missense_Mutation_p.R893Q|FAM193A_uc011bvn.1_Missense_Mutation_p.R871Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R725Q NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 871 ovary(3) 3 GCAGCGAAGCGAGCAAGGCAT 0.552 NA 4 30 0 0 0.009096 0 0 STK32B 55351 broad.mit.edu 37 4 5170126 5170126 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:5170126G>T uc003gih.1 + 3 273 c.209G>T c.(208-210)CGG>CTG p.R70L STK32B_uc010ida.1_Missense_Mutation_p.R23L NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 70 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AATGTTTTCCGGGAGCTGCAG 0.537 NA 10 31 1.08611e-07 1.39466e-07 0.010729 1 0 EVC 2121 broad.mit.edu 37 4 5750028 5750028 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:5750028G>T uc003gil.1 + 8 1277 c.1093G>T c.(1093-1095)GCT>TCT p.A365S EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Missense_Mutation_p.P459T NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 365 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) GGAGCTGCAGGCTCTGGTAAT 0.478 NA 12 32 0.000151284 0.000171237 0.001855 1 0 ZNF518B 85460 broad.mit.edu 37 4 10445318 10445318 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:10445318G>C uc003gmn.2 - 3 3122 c.2635C>G c.(2635-2637)CTG>GTG p.L879V NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 879 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 CTGGAAAGCAGTCTCCCTTGC 0.393 NA 10 85 0 0 0.006214 0 0 CLNK 116449 broad.mit.edu 37 4 10566338 10566338 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:10566338G>C uc003gmo.3 - 7 493 c.356C>G c.(355-357)TCC>TGC p.S119C CLNK_uc003gmp.2_Missense_Mutation_p.S77C NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 119 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 CTGTCCAATGGAGATAGAGGT 0.453 GBM(87;402 1286 6949 13902 35851) NA 6 21 0 0 0.001168 0 0 ARAP2 116984 broad.mit.edu 37 4 36149351 36149351 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:36149351A>T uc003gsq.1 - 18 3356 c.3018T>A c.(3016-3018)TTT>TTA p.F1006L NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1006 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGTTTTCAGCAAATAAGGGAA 0.373 NA 13 20 0 0 0.001855 0 0 N4BP2 55728 broad.mit.edu 37 4 40115128 40115128 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:40115128G>T uc003guy.3 + 7 2002 c.1664G>T c.(1663-1665)AGG>ATG p.R555M N4BP2_uc010ifq.2_Missense_Mutation_p.R475M|N4BP2_uc010ifr.2_Missense_Mutation_p.R475M NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 555 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GAACTTGCAAGGTAAAACTTG 0.363 NA 63 134 2.92391e-54 5.43126e-54 0.01441 1 0 GABRG1 2565 broad.mit.edu 37 4 46099303 46099303 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:46099303G>T uc003gxb.2 - 2 320 c.168C>A c.(166-168)GCC>GCA p.A56A NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 56 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) GAATTTTTGGGGCCAAGACCC 0.368 NA 60 155 7.55815e-43 1.3963e-42 0.01441 1 0 PDGFRA 5156 broad.mit.edu 37 4 55131107 55131107 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:55131107A>T uc003han.3 + 5 981 c.650A>T c.(649-651)GAA>GTA p.E217V PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E111V|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 217 Ig-like C2-type 3.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CTGGATCTAGAAATGGAAGCT 0.383 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 5 67 0 0 0.000602 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146539 70146540 + Missense_Mutation DNP AT AT TC TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 AT AT - - AT AT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:70146539_70146540AT>TC uc003hej.2 + 1 323_324 c.321_322AT>TC c.(319-324)TTATAT>TTTCAT p.107_108LY>FH UGT2B28_uc010ihr.2_Missense_Mutation_p.107_108LY>FH NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 107_108 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) GCTTTTGGTTATATTTTTCACA 0.292 NA 37 123 0 0 0.004672 0 0 UGT2B4 7363 broad.mit.edu 37 4 70352326 70352326 + Splice_Site SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:70352326C>G uc003hek.3 - 4 1137 c.1090_splice c.e4+1 p.G364_splice UGT2B4_uc011cap.1_Splice_Site_p.G228_splice|UGT2B4_uc003hel.3_Splice_Site_p.D364_splice NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 CAGAGACTTACCAAGAAGATC 0.338 NA 13 96 0 0 0.013537 0 0 PLAC8 51316 broad.mit.edu 37 4 84028990 84028990 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:84028990C>T uc003hoe.2 - 2 246 c.85G>A c.(85-87)GGC>AGC p.G29S PLAC8_uc011cco.1_Missense_Mutation_p.G29S|PLAC8_uc010ijy.2_Intron|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Missense_Mutation_p.G29S NM_001130716 NP_001124188 Q9NZF1 PLAC8_HUMAN placenta-specific 8 29 ovary(1) 1 Hepatocellular(203;0.114) TCACACATGCCTGTCTGCCAG 0.562 NA 10 38 0 0 0.008291 0 0 IBSP 3381 broad.mit.edu 37 4 88731895 88731895 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:88731895T>A uc003hqx.3 + 6 482 c.384T>A c.(382-384)GCT>GCA p.A128A NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 128 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CAGGGTTAGCTGCAATCCAGC 0.398 NA 21 68 0 0 0.008871 0 0 TBCK 93627 broad.mit.edu 37 4 107156448 107156448 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:107156448C>A uc010ilv.2 - 15 1792 c.1427G>T c.(1426-1428)TGG>TTG p.W476L TBCK_uc003hyb.2_Missense_Mutation_p.W219L|TBCK_uc003hye.2_Missense_Mutation_p.W437L|TBCK_uc003hyc.2_Missense_Mutation_p.W413L|TBCK_uc003hyd.2_Missense_Mutation_p.W304L|TBCK_uc003hyf.2_Missense_Mutation_p.W476L NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 476 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 AAGAGCAGCCCAGGTTAAACC 0.358 NA 11 28 0.00316338 0.00342069 0.003163 1 0 PITX2 5308 broad.mit.edu 37 4 111539486 111539486 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:111539486C>T uc003iad.2 - 5 1331 c.749G>A c.(748-750)AGC>AAC p.S250N PITX2_uc003iac.2_Missense_Mutation_p.S257N|PITX2_uc003iae.2_Missense_Mutation_p.S204N|PITX2_uc010iml.2_Missense_Mutation_p.S121N|PITX2_uc003iaf.2_Missense_Mutation_p.S250N NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 250 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CAGCGACGGGCTACTCAGGTT 0.597 NA 19 30 0 0 0.006122 0 0 FAT4 79633 broad.mit.edu 37 4 126336245 126336245 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:126336245G>T uc003ifj.3 + 5 6127 c.6127G>T c.(6127-6129)GAT>TAT p.D2043Y FAT4_uc011cgp.1_Missense_Mutation_p.D341Y NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2043 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATTTTGTTGGATGTAAATGA 0.403 NA 41 139 2.26627e-22 3.83176e-22 0.007835 1 0 ARHGAP10 79658 broad.mit.edu 37 4 148744109 148744109 + Splice_Site SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:148744109G>T uc003ilf.2 + 3 312 c.312_splice c.e3+1 p.M104_splice ARHGAP10_uc003ile.1_Splice_Site_p.M104_splice NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) AGAAATTATGGTGAGTTGAGA 0.383 NA 15 36 1.37285e-15 2.16968e-15 0.004007 1 0 ACCN5 51802 broad.mit.edu 37 4 156787352 156787352 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:156787352T>C uc003ipe.1 - 1 74 c.27A>G c.(25-27)GTA>GTG p.V9V NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 9 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) TCTCAGCATATACTTTTGATT 0.353 NA 35 90 0 0 0.004289 0 0 GRIA2 2891 broad.mit.edu 37 4 158262431 158262431 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:158262431C>A uc003ipm.3 + 12 2319 c.1860C>A c.(1858-1860)CGC>CGA p.R620R GRIA2_uc011cit.1_Silent_p.R573R|GRIA2_uc003ipl.3_Silent_p.R620R|GRIA2_uc003ipk.3_Silent_p.R573R|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 620 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCTCTGGGCGCATTGTTGGAG 0.408 NA 25 142 6.32553e-13 9.34359e-13 0.004656 1 0 GK3P 2713 broad.mit.edu 37 4 166200358 166200358 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:166200358G>T uc003ird.3 - 1 818 c.440C>A c.(439-441)ACT>AAT p.T147N 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 ACTGAAGTAAGTGCTAAGTGG 0.413 NA 23 94 3.08376e-08 4.0285e-08 0.00333 1 0 NEK1 4750 broad.mit.edu 37 4 170345816 170345816 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:170345816G>A uc003isb.1 - 29 3518 c.3026C>T c.(3025-3027)CCA>CTA p.P1009L NEK1_uc003isc.1_Missense_Mutation_p.P965L|NEK1_uc003isd.1_Missense_Mutation_p.P1037L|NEK1_uc003ise.1_Missense_Mutation_p.P993L|NEK1_uc003isf.1_Missense_Mutation_p.P940L NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1009 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) GGATTCTTCTGGTGAACACTG 0.393 NA 22 60 0 0 0.00333 0 0 ENPP6 133121 broad.mit.edu 37 4 185045347 185045347 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:185045347G>A uc003iwc.2 - 3 642 c.500C>T c.(499-501)GCC>GTC p.A167V NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 167 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) GACTGCATTGGCAAAATTGAT 0.443 NA 4 230 0 0 0.000602 0 0 ACSL1 2180 broad.mit.edu 37 4 185679038 185679038 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:185679038T>C uc003iww.2 - 19 2113 c.1819A>G c.(1819-1821)ACA>GCA p.T607A ACSL1_uc011ckm.1_Missense_Mutation_p.T436A|ACSL1_uc003iwt.1_Missense_Mutation_p.T607A|ACSL1_uc003iwu.1_Missense_Mutation_p.T607A|ACSL1_uc011ckn.1_Missense_Mutation_p.T573A|ACSL1_uc003iws.1_Missense_Mutation_p.T167A NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 607 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GAACATAATGTCTCAACATCT 0.383 NA 10 95 0 0 0.008291 0 0 FAM149A 25854 broad.mit.edu 37 4 187077278 187077278 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:187077278G>A uc003iyt.3 + 7 1087 c.508G>A c.(508-510)GTC>ATC p.V170I FAM149A_uc011cla.1_Missense_Mutation_p.V170I|FAM149A_uc010isj.2_Missense_Mutation_p.V170I|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Missense_Mutation_p.V170I|FAM149A_uc010isl.2_Missense_Mutation_p.V170I|FAM149A_uc011clb.1_Missense_Mutation_p.V170I NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 461 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) GTTTGATCACGTCTGGACAAA 0.463 NA 17 62 0 0 0.004007 0 0 TUBB4Q 56604 broad.mit.edu 37 4 190905449 190905449 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:190905449G>T uc011clg.1 - 3 238 c.235C>A c.(235-237)CCC>ACC p.P79T NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 80 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) TGCCCGAAGGGCCCCGAGCGC 0.667 NA 17 62 1.96895e-08 2.58711e-08 0.00278 1 0 AHRR 57491 broad.mit.edu 37 5 434671 434671 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:434671A>T uc003jav.2 + 12 1926 c.1882A>T c.(1882-1884)AGG>TGG p.R628W AHRR_uc003jaw.2_Missense_Mutation_p.R606W|AHRR_uc010isy.2_Missense_Mutation_p.R456W|AHRR_uc010isz.2_Missense_Mutation_p.R606W|AHRR_uc003jax.2_Missense_Mutation_p.R369W|AHRR_uc003jay.2_Missense_Mutation_p.R466W|AHRR_uc003jaz.2_Missense_Mutation_p.R227W NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 610 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TGGGCGCAGCAGGGAGCTGAC 0.687 NA 5 15 0 0 0.000602 0 0 CDH12 1010 broad.mit.edu 37 5 21783506 21783506 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:21783506T>G uc010iuc.2 - 8 1812 c.1354A>C c.(1354-1356)ACT>CCT p.T452P CDH12_uc011cno.1_Missense_Mutation_p.T412P|CDH12_uc003jgk.2_Missense_Mutation_p.T452P NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 452 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 TACTGCGCAGTGCTTTCTCTG 0.378 NA HNSCC(59;0.17) 22 130 0 0 0.00278 0 0 SPEF2 79925 broad.mit.edu 37 5 35779385 35779385 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:35779385G>T uc003jjo.2 + 30 4495 c.4384G>T c.(4384-4386)GGT>TGT p.G1462C SPEF2_uc003jjp.1_Missense_Mutation_p.G948C|SPEF2_uc003jjr.2_5'UTR NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1462 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAGAAGATGGTACCCTGAC 0.383 NA 13 72 7.93312e-07 9.79719e-07 0.00245 1 0 IL7R 3575 broad.mit.edu 37 5 35876570 35876570 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:35876570C>A uc003jjs.2 + 8 1451 c.1362C>A c.(1360-1362)AGC>AGA p.S454R IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 454 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCATGTCCAGCTTCTACCAAA 0.453 NA 7 21 0.00198382 0.00216243 0.001984 1 0 C7 730 broad.mit.edu 37 5 40945338 40945338 + Silent SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:40945338T>C uc003jmh.2 + 7 720 c.606T>C c.(604-606)AAT>AAC p.N202N C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 202 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AATTTTACAATAGTACTTGGT 0.303 NA 6 9 0 0 0.001168 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64587298 64587298 + Splice_Site SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:64587298C>A uc003jtp.2 - 11 2185 c.1371_splice c.e11-1 p.D457_splice ADAMTS6_uc003jto.2_Splice_Site|ADAMTS6_uc003jtq.2_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site_p.D78_splice NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ACGGCCTGAACTGTTCAACAT 0.423 NA 14 28 0.000151284 0.000171237 0.001855 1 0 RAD17 5884 broad.mit.edu 37 5 68670537 68670537 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:68670537A>T uc003jwo.2 + 3 445 c.383A>T c.(382-384)CAG>CTG p.Q128L RAD17_uc003jwg.2_Missense_Mutation_p.Q117L|RAD17_uc003jwh.2_Missense_Mutation_p.Q117L|RAD17_uc003jwi.2_Missense_Mutation_p.Q117L|RAD17_uc003jwj.2_Missense_Mutation_p.Q117L|RAD17_uc003jwk.2_Missense_Mutation_p.Q117L|RAD17_uc003jwl.2_Missense_Mutation_p.Q117L|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Missense_Mutation_p.Q31L NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 128 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CAACCAAAACAGGTAACTAAG 0.279 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 20 25 0 0 0.008871 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855837 79855837 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:79855837A>G uc010jam.2 - 4 352 c.2T>C c.(1-3)ATG>ACG p.M1T ANKRD34B_uc003kgw.2_Missense_Mutation_p.M1T|ANKRD34B_uc010jan.2_Missense_Mutation_p.M1T NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 1 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) ACCTTCATCCATCTTCGGAGG 0.423 NA 7 13 0 0 0.001984 0 0 TMEM161B 153396 broad.mit.edu 37 5 87502892 87502892 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:87502892T>A uc003kjc.2 - 6 677 c.552A>T c.(550-552)GCA>GCT p.A184A TMEM161B_uc011cty.1_Silent_p.A173A|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Silent_p.A51A|TMEM161B_uc011ctx.1_Silent_p.A2A NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 184 Helical; (Potential). integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) CAATCAACACTGCCATTGCTT 0.289 NA 9 23 0 0 0.010729 0 0 FBN2 2201 broad.mit.edu 37 5 127700347 127700347 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:127700347G>T uc003kuu.2 - 18 2813 c.2374C>A c.(2374-2376)CGT>AGT p.R792S FBN2_uc003kuv.2_Missense_Mutation_p.R759S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 792 EGF-like 11; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAATTACAACGGTAACTACCA 0.333 NA 11 20 3.86212e-05 4.4457e-05 0.008291 1 0 SLC26A2 1836 broad.mit.edu 37 5 149357616 149357616 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:149357616G>T uc003lrh.2 + 2 669 c.401G>T c.(400-402)GGC>GTC p.G134V NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 134 Extracellular (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTGCTGGCTGGCCAAGAACCT 0.438 NA 35 54 1.56738e-10 2.19568e-10 0.004289 1 0 FAM114A2 10827 broad.mit.edu 37 5 153390880 153390880 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:153390880C>A uc003lvb.2 - 9 1502 c.914G>T c.(913-915)GGG>GTG p.G305V FAM114A2_uc003lvc.2_Missense_Mutation_p.G305V|FAM114A2_uc003lvd.2_Missense_Mutation_p.G305V|FAM114A2_uc003lve.2_Missense_Mutation_p.G121V|FAM114A2_uc011dda.1_Missense_Mutation_p.G235V NM_018691 NP_061161 Q9NRY5 F1142_HUMAN hypothetical protein LOC10827 305 purine nucleotide binding 0 ATCTTCATCCCCTAAAAAACC 0.428 NA 20 19 2.94398e-08 3.85332e-08 0.007413 1 0 BTNL8 79908 broad.mit.edu 37 5 180338550 180338550 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr5:180338550C>A uc003mmp.2 + 3 843 c.609C>A c.(607-609)AGC>AGA p.S203R BTNL8_uc003mmq.2_Missense_Mutation_p.S203R|BTNL8_uc011dhg.1_Missense_Mutation_p.S78R|BTNL8_uc010jll.2_Missense_Mutation_p.S203R|BTNL8_uc010jlm.2_Missense_Mutation_p.S87R|BTNL8_uc011dhh.1_Missense_Mutation_p.S19R NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 203 Ig-like V-type 2.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACGCCGGGAGCATATCCTGTT 0.547 NA 26 47 4.87955e-14 7.43447e-14 0.005443 1 0 DUSP22 56940 broad.mit.edu 37 6 348120 348120 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:348120G>T uc003msx.2 + 6 720 c.281G>T c.(280-282)AGG>ATG p.R94M DUSP22_uc011dhn.1_Missense_Mutation_p.R94M|DUSP22_uc003msy.1_Missense_Mutation_p.R51M NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 94 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GGGGTCTCCAGGAGCGTGACA 0.617 NA 13 157 9.05144e-12 1.28387e-11 0.001855 1 0 SLC17A4 10050 broad.mit.edu 37 6 25777157 25777157 + Missense_Mutation SNP C C G rs142556117 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:25777157C>G uc003nfe.2 + 10 1357 c.1238C>G c.(1237-1239)GCC>GGC p.A413G SLC17A4_uc011djx.1_Missense_Mutation_p.A183G|SLC17A4_uc003nff.1_Missense_Mutation_p.A202G|SLC17A4_uc003nfg.2_Missense_Mutation_p.A350G|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 413 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GAATCAGGAGCCCTTGTTAAC 0.502 NA 36 105 0 0 0.004289 0 0 SLC17A4 10050 broad.mit.edu 37 6 25777188 25777188 + Splice_Site SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:25777188G>T uc003nfe.2 + 10 1387 c.1268_splice c.e10+1 p.R423_splice SLC17A4_uc011djx.1_Splice_Site_p.R193_splice|SLC17A4_uc003nff.1_Silent_p.R212R|SLC17A4_uc003nfg.2_Splice_Site_p.R360_splice|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TTGCTCCTCGGTAGGGACCTC 0.473 NA 23 86 1.85244e-09 2.51694e-09 0.00333 1 0 SLC17A1 6568 broad.mit.edu 37 6 25813412 25813412 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:25813412A>T uc003nfh.3 - 7 762 c.646T>A c.(646-648)TGG>AGG p.W216R SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Missense_Mutation_p.W214R|SLC17A1_uc010jqc.1_Missense_Mutation_p.W214R NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 216 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 AGAACGAACCAGAGAAGACAT 0.448 NA 21 64 0 0 0.010504 0 0 HIST1H4B 8366 broad.mit.edu 37 6 26027319 26027319 + Missense_Mutation SNP C C G rs147907725 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:26027319C>G uc003nfr.2 - 1 162 c.162G>C c.(160-162)GAG>GAC p.E54D NM_003544 NP_003535 P62805 H4_HUMAN histone cluster 1, H4b 54 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 CGCCACGAGTCTCCTCATAAA 0.562 NA OREG0017238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 78 0 0 0.004672 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413835 26413835 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:26413835T>C uc003nhv.2 + 10 1825 c.1457T>C c.(1456-1458)CTG>CCG p.L486P BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.L434P|BTN3A1_uc010jqj.2_3'UTR NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 486 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CATACTTTCCTGGACGTCTCC 0.468 NA 34 131 0 0 0.004289 0 0 HIST1H2AH 85235 broad.mit.edu 37 6 27115267 27115267 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:27115267G>A uc003niz.2 + 1 360 c.360G>A c.(358-360)AAG>AAA p.K120K HIST1H2BK_uc003nix.1_5'Flank|hsa-mir-3143|MI0014167_5'Flank NM_080596 NP_542163 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 120 nucleosome assembly nucleosome|nucleus DNA binding 0 TGCCTAAGAAGACTGAGAGCC 0.522 NA 15 67 0 0 0.003163 0 0 OR2J2 26707 broad.mit.edu 37 6 29142112 29142112 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:29142112G>T uc011dlm.1 + 1 802 c.700G>T c.(700-702)GGG>TGG p.G234W NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCAACCACTGGGCTTCAGAA 0.453 NA 33 108 5.20006e-24 8.99398e-24 0.011902 1 0 MDC1 9656 broad.mit.edu 37 6 30675788 30675788 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:30675788T>A uc003nrg.3 - 8 3008 c.2568A>T c.(2566-2568)AAA>AAT p.K856N MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 856 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTCTGTCCTGTTTCCCCTTGG 0.468 NA Other_conserved_DNA_damage_response_genes 110 284 0 0 0.01441 0 0 BAT3 7917 broad.mit.edu 37 6 31616977 31616977 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:31616977G>T uc003nvg.3 - 4 736 c.422C>A c.(421-423)CCT>CAT p.P141H BAT3_uc003nvf.3_Missense_Mutation_p.P141H|BAT3_uc003nvh.3_Missense_Mutation_p.P141H|BAT3_uc003nvi.3_Missense_Mutation_p.P141H|BAT3_uc011dnw.1_Missense_Mutation_p.P141H|BAT3_uc011dnx.1_Missense_Mutation_p.P141H|BAT3_uc003nvj.1_Missense_Mutation_p.P141H NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 141 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TAAGCTTACAGGAAGATTGAA 0.512 NA 6 151 8.12818e-05 9.26203e-05 0.001984 1 0 MDGA1 266727 broad.mit.edu 37 6 37623622 37623622 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:37623622C>T uc003onu.1 - 4 1612 c.433G>A c.(433-435)GGC>AGC p.G145S NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 145 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 TAGAAGTTGCCTCGCACATCG 0.602 NA 12 20 0 0 0.003163 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267478 43267478 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:43267478G>T uc003out.2 + 4 716 c.617G>T c.(616-618)GGC>GTC p.G206V SLC22A7_uc010jyl.1_Missense_Mutation_p.G204V|SLC22A7_uc003ous.2_Missense_Mutation_p.G204V NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 206 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACCCTTACTGGCTCAGCCCTG 0.577 NA 25 44 1.1804e-14 1.82719e-14 0.003954 1 0 OPN5 221391 broad.mit.edu 37 6 47754282 47754282 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:47754282C>T uc003ozc.2 + 2 167 c.162C>T c.(160-162)GTC>GTT p.V54V OPN5_uc003ozd.2_5'Flank NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 54 Helical; Name=1; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 ATGGATATGTCCTTTACATGT 0.368 Melanoma(28;740 973 10870 42660 45347) NA 24 66 0 0 0.00333 0 0 C6orf138 442213 broad.mit.edu 37 6 47846147 47846147 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:47846147G>A uc011dwm.1 - 3 2467 c.2382C>T c.(2380-2382)CCC>CCT p.P794P C6orf138_uc011dwn.1_Silent_p.P558P NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 811 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TTTTGGAAGGGGGGAAAAACG 0.453 NA 37 77 0 0 0.003755 0 0 PGK2 5232 broad.mit.edu 37 6 49754640 49754640 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:49754640G>A uc003ozu.2 - 1 368 c.261C>T c.(259-261)TCC>TCT p.S87S NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 87 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TGCCCAGCAAGGATTTGAGCT 0.517 NA 36 109 0 0 0.003271 0 0 TINAG 27283 broad.mit.edu 37 6 54219385 54219385 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:54219385G>T uc003pcj.2 + 9 1347 c.1201G>T c.(1201-1203)GAA>TAA p.E401* TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 401 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) CACAAATAAAGAATCAGAAAA 0.323 NA 15 57 1.3612e-06 1.66588e-06 0.003163 1 0 GFRAL 389400 broad.mit.edu 37 6 55216299 55216299 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:55216299A>T uc003pcm.1 + 5 705 c.619A>T c.(619-621)AGC>TGC p.S207C NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 207 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGCTCTTCACAGCAAGACATG 0.423 NA 30 97 0 0 0.008361 0 0 DST 667 broad.mit.edu 37 6 56328453 56328453 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:56328453T>A uc003pdf.2 - 94 16468 c.16440A>T c.(16438-16440)TCA>TCT p.S5480S DST_uc003pcz.3_Silent_p.S5302S|DST_uc011dxj.1_Silent_p.S5331S|DST_uc011dxk.1_Silent_p.S5342S|DST_uc003pcy.3_Silent_p.S4976S|DST_uc003pcv.3_Silent_p.S98S|DST_uc003pcw.3_Silent_p.S59S|DST_uc003pcx.3_Silent_p.S59S NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7412 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAGCGCCTCGTGATGATGGCC 0.592 NA 32 82 0 0 0.012213 0 0 DST 667 broad.mit.edu 37 6 56371508 56371508 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:56371508C>A uc003pdf.2 - 70 12990 c.12962G>T c.(12961-12963)TGT>TTT p.C4321F DST_uc003pcz.3_Missense_Mutation_p.C4143F|DST_uc011dxj.1_Missense_Mutation_p.C4172F|DST_uc011dxk.1_Missense_Mutation_p.C4183F|DST_uc003pcy.3_Missense_Mutation_p.C3817F NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6229 Spectrin 13. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGCTCCCCACATGCCGCAAT 0.373 NA 34 73 8.4185e-14 1.27976e-13 0.012213 1 0 C6orf221 154288 broad.mit.edu 37 6 74072525 74072525 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:74072525G>C uc003pgt.3 + 1 126 c.73G>C c.(73-75)GGT>CGT p.G25R NM_001017361 NP_001017361 Q587J8 ECAT1_HUMAN hypothetical protein LOC154288 25 skin(2) 2 GGAGGTGCTCGGTCACCTCCC 0.577 NA 23 48 0 0 0.014323 0 0 COL12A1 1303 broad.mit.edu 37 6 75875291 75875291 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:75875291C>A uc003phs.2 - 14 3081 c.2915G>T c.(2914-2916)AGA>ATA p.R972I COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 972 Fibronectin type-III 6. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TACTGAAATTCTGTATTTGGT 0.408 NA 44 119 1.23713e-20 2.05582e-20 0.01441 1 0 BCKDHB 594 broad.mit.edu 37 6 80878601 80878601 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:80878601G>A uc003pjd.2 + 5 554 c.487G>A c.(487-489)GAA>AAA p.E163K BCKDHB_uc003pje.2_Missense_Mutation_p.E163K NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 163 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GATTGTTAATGAAGCTGCCAA 0.418 NA 12 62 0 0 0.013537 0 0 DOPEY1 23033 broad.mit.edu 37 6 83829489 83829489 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:83829489C>T uc003pjs.1 + 9 1163 c.903C>T c.(901-903)ATC>ATT p.I301I DOPEY1_uc011dyy.1_Intron|DOPEY1_uc010kbl.1_Intron NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 301 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ACGGTGCTATCATAGGACCCA 0.338 NA 9 94 0 0 0.010729 0 0 MDN1 23195 broad.mit.edu 37 6 90499592 90499592 + Silent SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:90499592T>A uc003pnn.1 - 7 1253 c.1137A>T c.(1135-1137)GGA>GGT p.G379G MDN1_uc003pnp.1_Silent_p.G379G NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 379 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) ACACAAACTCTCCAGGAACAT 0.488 NA 16 64 0 0 0.003163 0 0 SIM1 6492 broad.mit.edu 37 6 100838294 100838294 + Missense_Mutation SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:100838294T>G uc003pqj.3 - 11 2451 c.2244A>C c.(2242-2244)CAA>CAC p.Q748H SIM1_uc010kcu.2_Missense_Mutation_p.Q748H NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 748 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTGGGTCTGGTTGCATCCTCA 0.413 NA 41 80 0 0 0.010771 0 0 SIM1 6492 broad.mit.edu 37 6 100838543 100838543 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:100838543G>T uc003pqj.3 - 11 2202 c.1995C>A c.(1993-1995)CGC>CGA p.R665R SIM1_uc010kcu.2_Silent_p.R665R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 665 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) ATTTTGAAATGCGATCCGAAT 0.453 NA 71 173 3.25985e-27 5.78581e-27 0.01441 1 0 GRIK2 2898 broad.mit.edu 37 6 102074265 102074265 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:102074265G>T uc003pqp.3 + 3 543 c.294G>T c.(292-294)CAG>CAT p.Q98H GRIK2_uc003pqn.2_Missense_Mutation_p.Q98H|GRIK2_uc003pqo.3_Missense_Mutation_p.Q98H|GRIK2_uc010kcw.2_Missense_Mutation_p.Q98H NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 98 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCTGTGATCAGCTGTCTCTTG 0.488 NA 106 250 3.29639e-60 6.15689e-60 0.01441 1 0 AIM1 202 broad.mit.edu 37 6 106968029 106968029 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:106968029A>T uc003prh.2 + 2 2209 c.1722A>T c.(1720-1722)AGA>AGT p.R574S NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 574 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CTGAAGTTAGAGAAGTGCAGT 0.542 NA 20 42 0 0 0.007413 0 0 LAMA4 3910 broad.mit.edu 37 6 112460960 112460960 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:112460960C>T uc003pvu.2 - 23 3413 c.3104G>A c.(3103-3105)TGT>TAT p.C1035Y LAMA4_uc003pvv.2_Missense_Mutation_p.C1028Y|LAMA4_uc003pvt.2_Missense_Mutation_p.C1028Y NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1035 Laminin G-like 1. 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) TTACCGGGCACATGGCACTGA 0.408 NA 22 85 0 0 0.014323 0 0 ROS1 6098 broad.mit.edu 37 6 117686772 117686772 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:117686772T>A uc003pxp.1 - 19 3144 c.2945A>T c.(2944-2946)TAC>TTC p.Y982F ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 982 Fibronectin type-III 4.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTCTACACTGTAGAAAACTAC 0.428 NA T GOPC|ROS1 glioblastoma|NSCLC 13 39 0 0 0.001855 0 0 EYA4 2070 broad.mit.edu 37 6 133849873 133849873 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:133849873C>A uc003qec.3 + 20 2308 c.1850C>A c.(1849-1851)CCC>CAC p.P617H EYA4_uc011ecq.1_Missense_Mutation_p.P563H|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.P617H|EYA4_uc003qee.3_Missense_Mutation_p.P594H|EYA4_uc011ecs.1_Missense_Mutation_p.P623H|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 617 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CACAACATGCCCTTCTGGAGG 0.343 Melanoma(57;398 1237 3528 4702 7415) NA 49 185 2.81731e-22 4.75158e-22 0.01441 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599694 136599694 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:136599694G>T uc003qgx.1 - 4 578 c.325C>A c.(325-327)CGT>AGT p.R109S BCLAF1_uc003qgw.1_Missense_Mutation_p.R109S|BCLAF1_uc003qgy.1_Missense_Mutation_p.R107S|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R107S NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 109 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) GAACGTGAACGACCTCGTCTA 0.468 Colon(142;1534 1789 5427 7063 28491) NA 49 209 6.81593e-30 1.22578e-29 0.01441 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599790 136599790 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:136599790C>A uc003qgx.1 - 4 482 c.229G>T c.(229-231)GGT>TGT p.G77C BCLAF1_uc003qgw.1_Missense_Mutation_p.G77C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G75C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G75C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 77 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) TACCCTCTACCCCTTCCTCTG 0.448 Colon(142;1534 1789 5427 7063 28491) NA 15 130 7.41877e-09 9.96025e-09 0.012319 1 0 TXLNB 167838 broad.mit.edu 37 6 139564044 139564044 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:139564044G>T uc011eds.1 - 10 1839 c.1674C>A c.(1672-1674)CCC>CCA p.P558P NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 558 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GAGGAGTTAGGGGAGGCAGGG 0.592 NA 27 49 1.66031e-10 2.30202e-10 0.003954 1 0 EPM2A 7957 broad.mit.edu 37 6 145948691 145948691 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:145948691C>T uc003qkw.2 - 4 1214 c.857G>A c.(856-858)GGC>GAC p.G286D EPM2A_uc003qkv.2_Missense_Mutation_p.G286D|EPM2A_uc010khr.2_Silent_p.G205G|EPM2A_uc003qkx.2_Missense_Mutation_p.G148D|EPM2A_uc003qku.2_Missense_Mutation_p.G132D NM_005670 NP_005661 O95278 EPM2A_HUMAN laforin isoform a 286 Tyrosine-protein phosphatase. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) CAGATTCCAGCCCATCACATA 0.592 NA 12 50 0 0 0.013537 0 0 SASH1 23328 broad.mit.edu 37 6 148761494 148761494 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:148761494G>T uc003qme.1 + 4 812 c.337G>T c.(337-339)GAG>TAG p.E113* NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 113 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCTCTCGTAGGAGTCGCTTGG 0.463 NA 25 77 5.77227e-19 9.49903e-19 0.008361 1 0 SASH1 23328 broad.mit.edu 37 6 148840928 148840928 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:148840928G>T uc003qme.1 + 10 1583 c.1108G>T c.(1108-1110)GGG>TGG p.G370W SASH1_uc011eeb.1_Missense_Mutation_p.G131W NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 370 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CAAGAAGATGGGGACATTCTT 0.592 NA 20 26 1.00905e-13 1.52708e-13 0.008871 1 0 SYNE1 23345 broad.mit.edu 37 6 152542080 152542080 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:152542080G>A uc010kiw.2 - 119 22360 c.21758C>T c.(21757-21759)TCG>TTG p.S7253L SYNE1_uc010kiv.2_Missense_Mutation_p.S1777L|SYNE1_uc003qos.3_Missense_Mutation_p.S1777L|SYNE1_uc003qot.3_Missense_Mutation_p.S7182L|SYNE1_uc003qou.3_Missense_Mutation_p.S7253L|SYNE1_uc003qor.3_Missense_Mutation_p.S153L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7253 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGAACTGTCGAAGCACACTG 0.488 NA HNSCC(10;0.0054) 10 176 0 0 0.006214 0 0 SYNE1 23345 broad.mit.edu 37 6 152623136 152623136 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:152623136C>T uc010kiw.2 - 92 18011 c.17409G>A c.(17407-17409)AAG>AAA p.K5803K SYNE1_uc010kiv.2_Silent_p.K327K|SYNE1_uc003qos.3_Silent_p.K327K|SYNE1_uc003qot.3_Silent_p.K5732K|SYNE1_uc003qou.3_Silent_p.K5803K|SYNE1_uc010kiy.1_Silent_p.K25K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5803 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCGTCAGCATCTTGCACTTGG 0.587 NA HNSCC(10;0.0054) 44 84 0 0 0.01441 0 0 SYNE1 23345 broad.mit.edu 37 6 152658015 152658015 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:152658015C>T uc010kiw.2 - 76 13091 c.12489G>A c.(12487-12489)CTG>CTA p.L4163L SYNE1_uc003qot.3_Silent_p.L4092L|SYNE1_uc003qou.3_Silent_p.L4163L|SYNE1_uc010kja.1_Silent_p.L868L|SYNE1_uc010kiz.2_5'Flank NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4163 Spectrin 11.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTTCAGCTCCAGCTCAGAGT 0.468 NA HNSCC(10;0.0054) 31 93 0 0 0.003755 0 0 NOX3 50508 broad.mit.edu 37 6 155764448 155764448 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:155764448G>T uc003qqm.2 - 5 548 c.445C>A c.(445-447)CCT>ACT p.P149T NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 149 Ferric oxidoreductase.|Extracellular (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CTCTCGTTAGGGGTGTTGCCC 0.572 NA 17 34 5.35267e-07 6.69577e-07 0.007413 1 0 LPA 4018 broad.mit.edu 37 6 161015063 161015063 + Nonsense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:161015063C>A uc003qtl.2 - 23 3676 c.3556G>T c.(3556-3558)GGA>TGA p.G1186* NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3694 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CATGTCCTTCCTGTGACAGTG 0.473 NA 32 96 3.11337e-16 4.96675e-16 0.013726 1 0 SDK1 221935 broad.mit.edu 37 7 4169723 4169723 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:4169723G>A uc003smx.2 + 27 4262 c.4123G>A c.(4123-4125)GAC>AAC p.D1375N SDK1_uc010kso.2_Missense_Mutation_p.D651N|SDK1_uc003smy.2_5'UTR NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1375 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCGCACCAAAGACGATGGTAG 0.587 NA 6 36 0 0 0.001168 0 0 RADIL 55698 broad.mit.edu 37 7 4917441 4917441 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:4917441G>T uc003snj.1 - 2 503 c.330C>A c.(328-330)TAC>TAA p.Y110* RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 110 Ras-associating. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACACAGCACGTACTGGCCGG 0.682 NA 33 47 3.99451e-17 6.43296e-17 0.009535 1 0 ETV1 2115 broad.mit.edu 37 7 13935690 13935690 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:13935690T>C uc011jxq.1 - 14 1974 c.1235A>G c.(1234-1236)TAC>TGC p.Y412C ETV1_uc011jxn.1_Missense_Mutation_p.Y372C|ETV1_uc011jxo.1_Missense_Mutation_p.Y309C|ETV1_uc011jxp.1_Missense_Mutation_p.Y354C|ETV1_uc003ssw.3_Missense_Mutation_p.Y389C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.Y394C|ETV1_uc011jxs.1_Missense_Mutation_p.Y394C NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 412 ETS. transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 CACAAACTTGTAGACATATCT 0.478 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 7 18 0 0 0.00308 0 0 FERD3L 222894 broad.mit.edu 37 7 19184872 19184872 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:19184872G>T uc003suo.1 - 1 173 c.114C>A c.(112-114)TCC>TCA p.S38S uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 38 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 GGTCCCCCAAGGAGACCCCGG 0.532 NA 14 35 2.48551e-13 3.70368e-13 0.00499 1 0 DNAH11 8701 broad.mit.edu 37 7 21646324 21646324 + Silent SNP A A C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:21646324A>C uc003svc.2 + 20 3856 c.3825A>C c.(3823-3825)GCA>GCC p.A1275A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1275 Potential.|Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GATTTAATGCAGAAAATCCAT 0.328 NA Kartagener_syndrome 12 21 0 0 0.00245 0 0 HOXA1 3198 broad.mit.edu 37 7 27134888 27134888 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:27134888G>T uc003sye.2 - 1 738 c.644C>A c.(643-645)CCC>CAC p.P215H HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 215 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 ACCTGTTTTGGGAGGGTTTCT 0.473 NA 22 39 1.96292e-10 2.71604e-10 0.010504 1 0 HOXA3 3200 broad.mit.edu 37 7 27147727 27147727 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:27147727G>T uc011jzl.1 - 3 1339 c.1139C>A c.(1138-1140)CCA>CAA p.P380Q HOXA3_uc011jzk.1_Missense_Mutation_p.P222Q|HOXA3_uc003syk.2_Missense_Mutation_p.P380Q NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 380 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 AAAGAGGGCTGGCCCGGAGTT 0.692 Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 9 17 0.000274275 0.000306357 0.004482 1 0 HOXA3 3200 broad.mit.edu 37 7 27148137 27148137 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:27148137G>T uc011jzl.1 - 3 929 c.729C>A c.(727-729)CGC>CGA p.R243R HOXA3_uc011jzk.1_Silent_p.R85R|HOXA3_uc003syk.2_Silent_p.R243R NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 243 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 TGTACTTCATGCGGCGATTCT 0.612 Esophageal Squamous(136;1368 1743 5685 7935 50360) NA 27 87 2.44723e-14 3.76241e-14 0.004656 1 0 STARD3NL 83930 broad.mit.edu 37 7 38247244 38247244 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:38247244G>A uc003tfr.2 + 2 287 c.139G>A c.(139-141)GGC>AGC p.G47S STARD3NL_uc003tfs.2_Missense_Mutation_p.G47S|STARD3NL_uc003tft.2_Missense_Mutation_p.G47S NM_032016 NP_114405 O95772 MENTO_HUMAN MLN64 N-terminal homolog 47 Cytoplasmic (Potential). integral to membrane|late endosome membrane ovary(1) 1 GGAAAAGAAAGGCATATCTGA 0.443 NA 33 91 0 0 0.012213 0 0 ABCA13 154664 broad.mit.edu 37 7 48443428 48443428 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:48443428C>A uc003toq.2 + 39 12047 c.12022C>A c.(12022-12024)CCT>ACT p.P4008T ABCA13_uc010kys.1_Missense_Mutation_p.P1082T|ABCA13_uc003tos.1_Missense_Mutation_p.P834T|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4008 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGGGGTGGACCCTTGCTCCCG 0.567 NA 11 36 4.68919e-08 6.09056e-08 0.008291 1 0 POM121L12 285877 broad.mit.edu 37 7 53103916 53103916 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:53103916G>T uc003tpz.2 + 1 568 c.552G>T c.(550-552)CAG>CAT p.Q184H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 184 0 CGCTCAGCCAGTGCCCCAAGG 0.577 NA 28 31 1.13719e-10 1.59962e-10 0.008361 1 0 FKBP9L 360132 broad.mit.edu 37 7 55759105 55759105 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:55759105G>T uc010kzl.2 - 3 277 c.177C>A c.(175-177)CAC>CAA p.H59Q FKBP9L_uc003tqt.2_5'Flank|FKBP9L_uc011kcs.1_5'Flank NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 GGGGTTTGTAGTGGGAGGTGA 0.517 NA 29 118 1.75199e-13 2.6164e-13 0.007291 1 0 CALN1 83698 broad.mit.edu 37 7 71743772 71743772 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:71743772A>T uc003twa.3 - 2 544 c.17T>A c.(16-18)GTG>GAG p.V6E CALN1_uc003twb.3_Missense_Mutation_p.V48E|CALN1_uc003twc.3_Missense_Mutation_p.V6E NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 6 Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) GCCGGCGGTCACATGGTGGAA 0.507 NA 22 17 0 0 0.010504 0 0 PCLO 27445 broad.mit.edu 37 7 82538323 82538323 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:82538323T>C uc003uhx.2 - 8 13596 c.13307A>G c.(13306-13308)CAT>CGT p.H4436R PCLO_uc003uhv.2_Missense_Mutation_p.H4436R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4367 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACGACGCAGATGATAGGCTTT 0.463 NA 10 91 0 0 0.008291 0 0 SEMA3D 223117 broad.mit.edu 37 7 84636143 84636143 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:84636143C>A uc003uic.2 - 16 1923 c.1883G>T c.(1882-1884)AGG>ATG p.R628M SEMA3D_uc010led.2_Missense_Mutation_p.R628M|SEMA3D_uc003uib.2_Missense_Mutation_p.R267M NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 628 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 ATCCCCTGACCTCTGGATATA 0.378 Ovarian(63;442 1191 17318 29975 31528) NA 132 156 2.32137e-38 4.23088e-38 0.01441 1 0 KIAA1324L 222223 broad.mit.edu 37 7 86544146 86544146 + Nonsense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:86544146C>A uc011kha.1 - 13 1809 c.1624G>T c.(1624-1626)GAA>TAA p.E542* KIAA1324L_uc003uif.1_Nonsense_Mutation_p.E302*|KIAA1324L_uc011kgz.1_Nonsense_Mutation_p.E428*|KIAA1324L_uc003uie.2_Nonsense_Mutation_p.E375* NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 542 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) CCCCACGATTCTACCACATTT 0.323 NA 7 58 0.00198382 0.00216243 0.001984 1 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129089 99129089 + Nonsense_Mutation SNP T T A rs28411998 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:99129089T>A uc003uqv.2 + 7 1861 c.1737T>A c.(1735-1737)TGT>TGA p.C579* ZKSCAN5_uc010lfx.2_Nonsense_Mutation_p.C579*|ZKSCAN5_uc003uqw.2_Nonsense_Mutation_p.C579*|ZKSCAN5_uc003uqx.2_Nonsense_Mutation_p.C506*|ZKSCAN5_uc003uqy.2_Nonsense_Mutation_p.C315* NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 579 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CATTCAGGTGTGAGGAATGTG 0.473 NA 33 74 0 0 0.009535 0 0 EPHB4 2050 broad.mit.edu 37 7 100421830 100421830 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:100421830C>T uc003uwn.1 - 2 609 c.118G>A c.(118-120)GGG>AGG p.G40R EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Missense_Mutation_p.G40R|EPHB4_uc011kkf.1_Missense_Mutation_p.G40R|EPHB4_uc011kkg.1_Missense_Mutation_p.G40R|EPHB4_uc011kkh.1_Missense_Mutation_p.G40R NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 40 Extracellular (Potential). cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CTCACCTGCCCGTCCACCTGA 0.592 GBM(200;2113 3072 25865 52728) NA 10 339 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100683533 100683533 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:100683533A>G uc003uxp.1 + 3 8889 c.8836A>G c.(8836-8838)AGC>GGC p.S2946G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2946 Extracellular (Potential).|47.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTCTGAGGCTAGCACCCTTTC 0.493 NA 59 877 0 0 0.01441 0 0 ALKBH4 54784 broad.mit.edu 37 7 102097955 102097955 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:102097955G>A uc003uzl.2 - 3 800 c.795C>T c.(793-795)CGC>CGT p.R265R ALKBH4_uc003uzm.2_Silent_p.R192R NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 265 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TGACGCAGACGCGGCGGGCCT 0.682 NA 6 85 0 0 0.001168 0 0 CBLL1 79872 broad.mit.edu 37 7 107399544 107399544 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:107399544T>C uc003veq.2 + 6 1727 c.1397T>C c.(1396-1398)TTG>TCG p.L466S CBLL1_uc011kme.1_Missense_Mutation_p.L345S|CBLL1_uc011kmf.1_Missense_Mutation_p.L465S NM_024814 NP_079090 Q75N03 HAKAI_HUMAN Cas-Br-M (murine) ecotropic retroviral 466 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|skin(2)|lung(1) 5 CCTCCACGATTGCAGGGTCCG 0.488 NA 95 247 0 0 0.01441 0 0 LAMB1 3912 broad.mit.edu 37 7 107596050 107596050 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:107596050G>T uc003vew.2 - 21 3051 c.2716C>A c.(2716-2718)CCC>ACC p.P906T LAMB1_uc003vev.2_Missense_Mutation_p.P930T NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 906 Laminin EGF-like 8. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAATGATGGGGTCGCCATAG 0.537 NA 30 50 5.45727e-16 8.68551e-16 0.008361 1 0 NRCAM 4897 broad.mit.edu 37 7 107790398 107790398 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:107790398G>T uc003vfb.2 - 33 4343 c.3872C>A c.(3871-3873)TCA>TAA p.S1291* NRCAM_uc003vfc.2_Nonsense_Mutation_p.S1170*|NRCAM_uc011kmk.1_Nonsense_Mutation_p.S1193*|NRCAM_uc003vfd.2_Nonsense_Mutation_p.S1174*|NRCAM_uc003vfe.2_Nonsense_Mutation_p.S1162*|NRCAM_uc003vez.2_Nonsense_Mutation_p.S74*|NRCAM_uc003vfa.2_Nonsense_Mutation_p.S135*|NRCAM_uc011kmj.1_Nonsense_Mutation_p.S137* NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1291 Cytoplasmic (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGGTGCCTCTGAGCTTTCGTT 0.413 NA 300 116 1.66838e-123 3.13342e-123 0.01441 1 0 DOCK4 9732 broad.mit.edu 37 7 111368565 111368565 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:111368565C>A uc003vfx.2 - 52 5935 c.5666G>T c.(5665-5667)GGG>GTG p.G1889V DOCK4_uc011kml.1_Missense_Mutation_p.G770V|DOCK4_uc011kmm.1_Missense_Mutation_p.G758V|DOCK4_uc003vfw.2_Missense_Mutation_p.G1301V|DOCK4_uc003vfy.2_Missense_Mutation_p.G1934V|DOCK4_uc003vfv.2_Missense_Mutation_p.G202V NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1889 Pro-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) TGGCTCCTCCCCGCCGTAGCT 0.667 NA 22 184 6.33239e-15 9.84715e-15 0.010504 1 0 DOCK4 9732 broad.mit.edu 37 7 111580244 111580244 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:111580244G>C uc003vfx.2 - 11 1167 c.898C>G c.(898-900)CCC>GCC p.P300A DOCK4_uc003vfy.2_Missense_Mutation_p.P300A|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.P300A NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 300 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) CAGCCAAAGGGTCGTCGGTAC 0.448 NA 129 301 0 0 0.01441 0 0 NAA38 51691 broad.mit.edu 37 7 117828412 117828412 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:117828412G>T uc003vjg.2 + 3 345 c.153G>T c.(151-153)GGG>GGT p.G51G NM_016200 NP_057284 O95777 NAA38_HUMAN U6 snRNA-associated Sm-like protein LSm8 51 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding 0 CTTCACAGGGGGTAGAACAAG 0.348 NA 56 50 1.00798e-23 1.73455e-23 0.01441 1 0 GPR37 2861 broad.mit.edu 37 7 124387384 124387384 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:124387384C>A uc003vli.2 - 2 1688 c.1037G>T c.(1036-1038)GGA>GTA p.G346V NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 346 Helical; Name=3; (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 AGTGGTGACTCCCAGAGAAGC 0.468 NA 12 67 1.5739e-10 2.19568e-10 0.004007 1 0 PLXNA4 91584 broad.mit.edu 37 7 131913210 131913210 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:131913210C>A uc003vra.3 - 6 1852 c.1623G>T c.(1621-1623)CGG>CGT p.R541R NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 541 PSI 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ACCGCTCACACCGCTCCTTCC 0.597 NA 17 32 8.00594e-06 9.48956e-06 0.007413 1 0 ATP6V0A4 50617 broad.mit.edu 37 7 138455936 138455936 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:138455936C>G uc003vuf.2 - 2 295 c.57G>C c.(55-57)GTG>GTC p.V19V ATP6V0A4_uc003vug.2_Silent_p.V19V|ATP6V0A4_uc003vuh.2_Silent_p.V19V NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 19 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 ATGCAGCTTCCACCTGGAGAA 0.478 NA 45 263 0 0 0.013114 0 0 Unknown 0 broad.mit.edu 37 7 142001010 142001010 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:142001010G>A uc011kro.1 + 2 147 c.102G>A c.(100-102)ATG>ATA p.M34I SubName: Full=V_segment translation product; Flags: Fragment; NA TCACACAGATGGGACAGGAAG 0.443 NA 25 21 0 0 0.00278 0 0 EPHB6 2051 broad.mit.edu 37 7 142566876 142566876 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:142566876G>T uc011kst.1 + 16 3220 c.2433G>T c.(2431-2433)GTG>GTT p.V811V EPHB6_uc011ksu.1_Silent_p.V811V|EPHB6_uc003wbs.2_Silent_p.V519V|EPHB6_uc003wbt.2_Silent_p.V285V|EPHB6_uc003wbu.2_Silent_p.V519V|EPHB6_uc003wbv.2_Silent_p.V195V NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 811 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TGTGCAAGGTGGCCCGTCTTG 0.637 NA 41 22 2.00842e-17 3.27334e-17 0.010771 1 0 KEL 3792 broad.mit.edu 37 7 142658913 142658913 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:142658913G>T uc003wcb.2 - 2 260 c.50C>A c.(49-51)GCA>GAA p.A17E NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 17 Cytoplasmic (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CATTCCACCTGCCTGGCTGCG 0.547 NA 73 398 1.25089e-41 2.29838e-41 0.01441 1 0 KRBA1 84626 broad.mit.edu 37 7 149421940 149421940 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:149421940G>A uc003wfz.2 + 9 1525 c.1126G>A c.(1126-1128)GCT>ACT p.A376T KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.A44T NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 376 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAGGCTCAAGGTGAGGCCTG 0.642 NA 8 7 0 0 0.00308 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163991 150163991 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:150163991C>A uc003whj.2 + 2 535 c.205C>A c.(205-207)CTT>ATT p.L69I NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 69 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CACCCCTGACCTTTTCTCCTC 0.488 NA 15 237 1.49906e-05 1.74333e-05 0.00245 1 0 EFHA2 286097 broad.mit.edu 37 8 16956024 16956024 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:16956024C>G uc003wxd.2 + 9 988 c.946C>G c.(946-948)CGT>GGT p.R316G NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 316 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) TACACTGAGACGTAACACAAG 0.388 Pancreas(177;1461 2846 10523 14242)|Colon(184;2703 2719 18484 23400) NA 59 94 0 0 0.01441 0 0 ADAM2 2515 broad.mit.edu 37 8 39613420 39613420 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:39613420A>G uc003xnj.2 - 16 1699 c.1624T>C c.(1624-1626)TGC>CGC p.C542R ADAM2_uc003xnk.2_Missense_Mutation_p.C523R|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 542 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AATTTTCCGCACTGCAGATTG 0.239 NA 14 215 0 0 0.00245 0 0 ANK1 286 broad.mit.edu 37 8 41526069 41526069 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:41526069C>A uc003xok.2 - 39 5194 c.5110G>T c.(5110-5112)GAT>TAT p.D1704Y NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.D858Y|ANK1_uc003xoi.2_Missense_Mutation_p.D1704Y|ANK1_uc003xoj.2_Missense_Mutation_p.D1704Y|ANK1_uc003xol.2_Missense_Mutation_p.D1542Y|ANK1_uc003xom.2_Missense_Mutation_p.D1745Y NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1704 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCGTCTGCATCCCAGTCCTGC 0.547 NA 16 60 1.15088e-07 1.47225e-07 0.004007 1 0 PREX2 80243 broad.mit.edu 37 8 69046421 69046421 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:69046421G>T uc003xxv.1 + 32 3921 c.3894G>T c.(3892-3894)ATG>ATT p.M1298I NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1298 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AAAATGAGATGGAAACTTGGG 0.488 NA 33 67 5.91797e-21 9.85843e-21 0.012213 1 0 TRAM1 23471 broad.mit.edu 37 8 71495976 71495976 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:71495976G>A uc003xyo.1 - 9 969 c.799C>T c.(799-801)CTT>TTT p.L267F TRAM1_uc011lfc.1_Missense_Mutation_p.L236F NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 267 Helical; (Potential).|TLC. cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) AGTACTGAAAGAATTAAAGTC 0.388 Ovarian(85;984 1334 5116 12432 40638) NA 46 104 0 0 0.01441 0 0 TCEB1 6921 broad.mit.edu 37 8 74868148 74868148 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:74868148G>T uc003xzx.1 - 3 231 c.146C>A c.(145-147)CCA>CAA p.P49Q TCEB1_uc003xzy.1_Missense_Mutation_p.P49Q|TCEB1_uc003xzz.1_Missense_Mutation_p.P33Q|TCEB1_uc003yaa.1_Missense_Mutation_p.P49Q NM_005648 NP_005639 Q15369 ELOC_HUMAN elongin C 49 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding 0 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) GTGCTTACCTGGGCCACTCAA 0.323 NA 26 56 1.75199e-13 2.6164e-13 0.007291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763493 77763493 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:77763493G>A uc003yav.2 + 10 4588 c.4201G>A c.(4201-4203)GCA>ACA p.A1401T ZFHX4_uc003yau.1_Missense_Mutation_p.A1446T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1401T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1401 C2H2-type 11. 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) ACACTTGGAAGCAGGCCACCC 0.493 NA HNSCC(33;0.089) 16 28 0 0 0.004007 0 0 SLC26A7 115111 broad.mit.edu 37 8 92406044 92406044 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:92406044G>T uc003yex.2 + 18 2074 c.1796G>T c.(1795-1797)GGC>GTC p.G599V SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.G599V|SLC26A7_uc003yfa.2_Missense_Mutation_p.G599V NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 599 STAS.|Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) GACTGTAAAGGCAGGAGTGTG 0.383 NA 38 94 2.66277e-13 3.95911e-13 0.006999 1 0 RBM12B 389677 broad.mit.edu 37 8 94747803 94747803 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:94747803C>A uc003yfz.2 - 3 1029 c.836G>T c.(835-837)CGT>CTT p.R279L NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 279 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AAGAGGGGAACGAGAACGTGT 0.368 NA 36 67 2.42023e-17 3.91627e-17 0.003271 1 0 VPS13B 157680 broad.mit.edu 37 8 100182372 100182372 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:100182372C>T uc003yiv.2 + 16 2425 c.2314C>T c.(2314-2316)CTG>TTG p.L772L VPS13B_uc003yiw.2_Silent_p.L772L|VPS13B_uc003yit.2_Silent_p.L772L|VPS13B_uc003yiu.1_Silent_p.L772L|VPS13B_uc003yix.1_Silent_p.L243L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 772 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGGAAACTTCTGAAACTCCC 0.403 Colon(161;2205 2542 7338 31318) NA 10 51 0 0 0.008291 0 0 RIMS2 9699 broad.mit.edu 37 8 105001577 105001577 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:105001577G>A uc003yls.2 + 15 2547 c.2306G>A c.(2305-2307)GGA>GAA p.G769E RIMS2_uc003ylp.2_Missense_Mutation_p.G991E|RIMS2_uc003ylw.2_Missense_Mutation_p.G783E|RIMS2_uc003ylq.2_Missense_Mutation_p.G783E|RIMS2_uc003ylr.2_Missense_Mutation_p.G830E NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1053 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACTATGACCGGACATTATAAT 0.383 NA HNSCC(12;0.0054) 23 72 0 0 0.00278 0 0 TRHR 7201 broad.mit.edu 37 8 110131489 110131489 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:110131489C>T uc003ymz.3 + 2 1018 c.1002C>T c.(1000-1002)CTC>CTT p.L334L NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 334 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TCAGAAAGCTCTGCAACTGCA 0.453 NA 68 153 0 0 0.01441 0 0 CSMD3 114788 broad.mit.edu 37 8 113348921 113348921 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:113348921C>G uc003ynu.2 - 44 7138 c.6979G>C c.(6979-6981)GTC>CTC p.V2327L CSMD3_uc003yns.2_Missense_Mutation_p.V1529L|CSMD3_uc003ynt.2_Missense_Mutation_p.V2287L|CSMD3_uc011lhx.1_Missense_Mutation_p.V2223L|CSMD3_uc003ynw.1_Missense_Mutation_p.V38L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2327 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTTTGAAGGACAGTAAAATTG 0.338 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 48 132 0 0 0.01441 0 0 CSMD3 114788 broad.mit.edu 37 8 113364763 113364763 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:113364763G>T uc003ynu.2 - 39 6296 c.6137C>A c.(6136-6138)GCA>GAA p.A2046E CSMD3_uc003yns.2_Missense_Mutation_p.A1248E|CSMD3_uc003ynt.2_Missense_Mutation_p.A2006E|CSMD3_uc011lhx.1_Missense_Mutation_p.A1942E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2046 Extracellular (Potential).|CUB 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CAAACCAATTGCTAAGAATAT 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 48 79 8.30282e-39 1.51733e-38 0.01441 1 0 CSMD3 114788 broad.mit.edu 37 8 113484937 113484937 + Splice_Site SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:113484937C>A uc003ynu.2 - 32 5438 c.5279_splice c.e32-1 p.A1760_splice CSMD3_uc003yns.2_Splice_Site_p.A1032_splice|CSMD3_uc003ynt.2_Splice_Site_p.A1720_splice|CSMD3_uc011lhx.1_Splice_Site_p.A1656_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCACAGGGCGCTAGGAAAAAA 0.313 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 43 1.87028e-06 2.28067e-06 0.012319 1 0 SNTB1 6641 broad.mit.edu 37 8 121706136 121706136 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:121706136C>G uc010mdg.2 - 2 810 c.584G>C c.(583-585)CGA>CCA p.R195P SNTB1_uc003ype.2_Missense_Mutation_p.R195P NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 195 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CGTGGCTTCTCGCATGTACTT 0.483 NA 49 65 0 0 0.01441 0 0 HAS2 3037 broad.mit.edu 37 8 122626567 122626567 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:122626567C>A uc003yph.2 - 4 1979 c.1441G>T c.(1441-1443)GTA>TTA p.V481L NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 481 Helical; Name=6; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CAAACTGATACTGGAATGAGT 0.398 NA 41 89 5.73237e-09 7.74212e-09 0.00623 1 0 WISP1 8840 broad.mit.edu 37 8 134225219 134225219 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:134225219G>A uc003yub.2 + 2 258 c.182G>A c.(181-183)CGC>CAC p.R61H WISP1_uc003yuc.2_Missense_Mutation_p.R61H|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Missense_Mutation_p.R61H|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 61 IGFBP N-terminal. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TCCCCACCCCGCTGCCCGCTG 0.627 NA 13 28 0 0 0.003163 0 0 GML 2765 broad.mit.edu 37 8 143928046 143928046 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:143928046G>T uc003yxg.2 + 4 507 c.417G>T c.(415-417)CTG>CTT p.L139L NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 139 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGTGAGGCTGGGGGTATCAA 0.478 NA 37 55 1.60099e-16 2.56007e-16 0.004878 1 0 CYP11B1 1584 broad.mit.edu 37 8 143957731 143957731 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:143957731G>T uc003yxi.2 - 5 887 c.880C>A c.(880-882)CTG>ATG p.L294M CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_Translation_Start_Site|CYP11B1_uc003yxj.2_Missense_Mutation_p.L294M|CYP11B1_uc010mey.2_Missense_Mutation_p.L365M NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 294 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCATTCAACAGGAGCTCCGCC 0.597 NA Familial_Hyperaldosteronism_type_I 15 27 0.00316338 0.00342069 0.003163 1 0 CPSF1 29894 broad.mit.edu 37 8 145622835 145622835 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:145622835G>A uc003zcj.2 - 22 2327 c.2252C>T c.(2251-2253)TCG>TTG p.S751L NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 751 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GAGGGAGCCCGAATCCCCATA 0.677 NSCLC(133;1088 1848 27708 34777 35269) NA 17 75 0 0 0.00499 0 0 ZNF34 80778 broad.mit.edu 37 8 145998963 145998963 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr8:145998963G>C uc003zdy.3 - 6 1473 c.1371C>G c.(1369-1371)AGC>AGG p.S457R ZNF34_uc010mgb.2_Missense_Mutation_p.S354R|ZNF34_uc003zdx.3_Missense_Mutation_p.S436R NM_030580 NP_085057 Q8IZ26 ZNF34_HUMAN zinc finger protein 34 457 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.221) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.0179) GTGTGCTTTGGCTGAAAACTT 0.488 NA 15 45 0 0 0.004007 0 0 UNC13B 10497 broad.mit.edu 37 9 35376131 35376131 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:35376131A>G uc003zwq.2 + 14 1767 c.1475A>G c.(1474-1476)TAT>TGT p.Y492C UNC13B_uc003zwr.2_Missense_Mutation_p.Y492C NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 492 Phorbol-ester/DAG-type. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ACCTACTGCTATGAGTGTGAA 0.547 NA 41 60 0 0 0.011902 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432627 104432627 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:104432627G>A uc004bbp.1 - 3 2668 c.2067C>T c.(2065-2067)GCC>GCT p.A689A GRIN3A_uc004bbq.1_Silent_p.A689A NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 689 Helical; (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGAGGAAGACGGCAGTGATGT 0.493 NA 63 64 0 0 0.01441 0 0 OR13F1 138805 broad.mit.edu 37 9 107266855 107266855 + Silent SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:107266855C>T uc011lvm.1 + 1 312 c.312C>T c.(310-312)TCC>TCT p.S104S NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 TGTACCTCTCCCTTGCCATGG 0.517 NA 24 52 0 0 0.014323 0 0 OR13C9 286362 broad.mit.edu 37 9 107380045 107380045 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:107380045C>G uc011lvr.1 - 1 441 c.441G>C c.(439-441)GGG>GGC p.G147G NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAAACCAGGACCCAACAGCCA 0.448 NA 30 69 0 0 0.00632 0 0 ZNF462 58499 broad.mit.edu 37 9 109687218 109687218 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:109687218C>G uc004bcz.2 + 3 1314 c.1025C>G c.(1024-1026)TCT>TGT p.S342C ZNF462_uc010mto.2_Missense_Mutation_p.S190C|ZNF462_uc004bda.2_Missense_Mutation_p.S190C NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 342 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TCGCCCATGTCTTACCCTCAG 0.483 NA 15 40 0 0 0.00245 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617550 111617550 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:111617550G>T uc004bdi.2 - 1 726 c.661C>A c.(661-663)CGC>AGC p.R221S NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 221 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TAGTCGGCGCGGCTGGTCAGG 0.662 NA 14 43 4.3838e-07 5.50411e-07 0.001855 1 0 AKNA 80709 broad.mit.edu 37 9 117138926 117138926 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:117138926C>A uc004biq.3 - 2 1296 c.1161G>T c.(1159-1161)AAG>AAT p.K387N AKNA_uc004bio.3_5'UTR|AKNA_uc004bip.3_Missense_Mutation_p.K306N|AKNA_uc004bir.3_Missense_Mutation_p.K387N|AKNA_uc004bis.3_Missense_Mutation_p.K387N|AKNA_uc010mve.2_Missense_Mutation_p.K268N|AKNA_uc004biu.1_Missense_Mutation_p.K128N|AKNA_uc004biv.1_Missense_Mutation_p.K387N|AKNA_uc004biw.1_Missense_Mutation_p.K387N NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 GGGCCTGAGGCTTCCTGTTGT 0.587 NA 22 58 1.85244e-09 2.51694e-09 0.00333 1 0 TLR4 7099 broad.mit.edu 37 9 120476015 120476015 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:120476015A>T uc004bjz.2 + 3 1900 c.1609A>T c.(1609-1611)ACG>TCG p.T537S TLR4_uc004bka.2_Missense_Mutation_p.T497S|TLR4_uc004bkb.2_Missense_Mutation_p.T337S NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 537 LRR 17.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTCATTGGATACGTTTCCTTA 0.403 NA 19 33 0 0 0.012319 0 0 SLC2A8 29988 broad.mit.edu 37 9 130166264 130166264 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:130166264G>T uc004bqu.2 + 7 939 c.894G>T c.(892-894)GTG>GTT p.V298V SLC2A8_uc010mxj.2_Silent_p.V298V|SLC2A8_uc004bqv.2_5'Flank NM_014580 NP_055395 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose 298 Helical; Name=8; (Potential). cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 CGGTCGTCGTGGGTGTCATCC 0.652 NA 7 23 8.12818e-05 9.26203e-05 0.001984 1 0 SPTAN1 6709 broad.mit.edu 37 9 131356466 131356466 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:131356466G>T uc004bvl.3 + 24 3341 c.3228G>T c.(3226-3228)CTG>CTT p.L1076L SPTAN1_uc011mbg.1_Silent_p.L1056L|SPTAN1_uc011mbh.1_Silent_p.L1088L|SPTAN1_uc004bvm.3_Silent_p.L1076L|SPTAN1_uc004bvn.3_Silent_p.L1056L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1076 Spectrin 11. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATCATTCTCTGCTGGAACTGG 0.448 NSCLC(120;833 1744 2558 35612 37579) NA 24 64 2.27525e-19 3.77169e-19 0.003954 1 0 ZER1 10444 broad.mit.edu 37 9 131502332 131502332 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:131502332G>A uc004bwa.1 - 13 2353 c.1920C>T c.(1918-1920)CAC>CAT p.H640H NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 640 ARM 4. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 CAAACATGATGTGGGAGAGGA 0.582 NA 9 36 0 0 0.006214 0 0 MXRA5 25878 broad.mit.edu 37 X 3228872 3228872 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:3228872C>A uc004crg.3 - 7 7529 c.7372G>T c.(7372-7374)GGG>TGG p.G2458W NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2458 Ig-like C2-type 9. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGACTGCCCCCGGCTGCTATC 0.577 NA 14 33 1.5842e-08 2.09374e-08 0.001855 1 0 NLGN4X 57502 broad.mit.edu 37 X 5811275 5811275 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:5811275G>T uc010ndh.2 - 6 2535 c.2034C>A c.(2032-2034)ACC>ACA p.T678T NLGN4X_uc004crp.2_Silent_p.T698T|NLGN4X_uc004crq.2_Silent_p.T678T|NLGN4X_uc010ndi.2_Silent_p.T715T|NLGN4X_uc004crr.2_Silent_p.T678T|NLGN4X_uc010ndj.2_Silent_p.T678T NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 678 Helical; (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CGACGGCAATGGTGACACTTA 0.512 NA 46 119 1.81118e-26 3.18956e-26 0.01441 1 0 ARHGAP6 395 broad.mit.edu 37 X 11204553 11204553 + Splice_Site SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:11204553T>C uc004cup.1 - 5 1951 c.1078_splice c.e5-1 p.G360_splice ARHGAP6_uc004cuo.1_Splice_Site|ARHGAP6_uc004cur.1_Splice_Site_p.G360_splice|ARHGAP6_uc004cum.1_Splice_Site_p.G157_splice|ARHGAP6_uc004cun.1_Splice_Site_p.G180_splice|ARHGAP6_uc010neb.1_Splice_Site_p.G182_splice|ARHGAP6_uc011mif.1_Splice_Site_p.G157_splice NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CATGGCACCCTGCAAGTGACA 0.443 NA 9 117 0 0 0.004482 0 0 ACE2 59272 broad.mit.edu 37 X 15603664 15603664 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:15603664C>G uc004cxa.1 - 7 1002 c.834G>C c.(832-834)CTG>CTC p.L278L ACE2_uc004cxb.2_Silent_p.L278L NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 278 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) TCAAAGAGTACAGATTTGTCC 0.328 NA 11 169 0 0 0.010729 0 0 PPEF1 5475 broad.mit.edu 37 X 18822086 18822086 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:18822086A>G uc004cyq.2 + 14 1623 c.1142A>G c.(1141-1143)TAT>TGT p.Y381C PPEF1_uc004cyp.2_Missense_Mutation_p.Y353C|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Missense_Mutation_p.Y381C|PPEF1_uc011mja.1_Missense_Mutation_p.Y316C|PPEF1_uc011mjb.1_Missense_Mutation_p.Y325C NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 381 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) GGGGGCTGCTATTTTGGACCA 0.418 NA 39 68 0 0 0.006999 0 0 DMD 1756 broad.mit.edu 37 X 31462673 31462673 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:31462673G>T uc004dda.1 - 60 9253 c.9009C>A c.(9007-9009)ACC>ACA p.T3003T DMD_uc004dcq.1_Silent_p.T274T|DMD_uc004dcr.1_Silent_p.T543T|DMD_uc004dcs.1_Silent_p.T543T|DMD_uc004dct.1_Silent_p.T543T|DMD_uc004dcu.1_Silent_p.T543T|DMD_uc004dcv.1_Silent_p.T543T|DMD_uc004dcw.2_Silent_p.T1659T|DMD_uc004dcx.2_Silent_p.T1662T|DMD_uc004dcz.2_Silent_p.T2880T|DMD_uc004dcy.1_Silent_p.T2999T|DMD_uc004ddb.1_Silent_p.T2995T NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3003 Spectrin 22. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCCCAAAGTGGTAAGCTGGC 0.478 NA 6 63 2.7689e-08 3.63116e-08 0.001984 1 0 FAM47B 170062 broad.mit.edu 37 X 34961736 34961736 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:34961736C>A uc004ddi.1 + 1 806 c.788C>A c.(787-789)CCT>CAT p.P263H NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 263 Pro-rich. ovary(3)|breast(1) 4 TGCCCAGAGCCTCCCAAGACT 0.622 NA 37 61 1.07121e-22 1.82482e-22 0.006999 1 0 FAM47C 442444 broad.mit.edu 37 X 37029346 37029346 + Nonsense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:37029346G>T uc004ddl.1 + 1 2877 c.2863G>T c.(2863-2865)GAA>TAA p.E955* NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 955 ovary(3) 3 AAGAAGTGATGAACCTTTGAT 0.438 NA 51 122 8.5822e-43 1.58118e-42 0.01441 1 0 OTC 5009 broad.mit.edu 37 X 38226663 38226663 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:38226663G>C uc004def.3 + 2 411 c.197G>C c.(196-198)AGG>ACG p.R66T NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 66 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) CTGAAATTTAGGATAAAACAG 0.373 NA 27 56 0 0 0.013726 0 0 MED14 9282 broad.mit.edu 37 X 40572200 40572200 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:40572200C>A uc004dex.3 - 6 887 c.747G>T c.(745-747)AAG>AAT p.K249N MED14_uc010nhe.1_Missense_Mutation_p.K133N NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 249 Interaction with STAT2. androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 GAATTTCTAGCTTGAGAAGAC 0.358 NA 7 17 5.18039e-06 6.17277e-06 0.00308 1 0 CCDC120 90060 broad.mit.edu 37 X 48921447 48921447 + Missense_Mutation SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:48921447A>T uc010nik.2 + 5 746 c.239A>T c.(238-240)CAG>CTG p.Q80L CCDC120_uc011mmq.1_Missense_Mutation_p.Q68L|CCDC120_uc004dmf.2_Missense_Mutation_p.Q80L|CCDC120_uc010nil.2_Missense_Mutation_p.Q80L|CCDC120_uc011mmr.1_Missense_Mutation_p.Q80L|CCDC120_uc011mms.1_Missense_Mutation_p.Q68L NM_033626 NP_296375 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 isoform 3 80 protein binding pancreas(1) 1 GAACGGCCCCAGTTGGTCCGC 0.667 NA 4 11 0 0 0.009096 0 0 MAGED1 9500 broad.mit.edu 37 X 51639760 51639760 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:51639760G>A uc004dpm.2 + 4 1104 c.1009G>A c.(1009-1011)GCT>ACT p.A337T MAGED1_uc004dpn.2_Missense_Mutation_p.A393T|MAGED1_uc004dpo.2_Missense_Mutation_p.A337T NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 337 Pro-rich.|22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|4. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) GAACCCAGTCGCTTGGCAGAA 0.612 NA Multiple Myeloma(10;0.10) 14 53 0 0 0.006122 0 0 MAGED1 9500 broad.mit.edu 37 X 51640681 51640681 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:51640681T>A uc004dpm.2 + 6 1620 c.1525T>A c.(1525-1527)TAT>AAT p.Y509N MAGED1_uc004dpn.2_Missense_Mutation_p.Y565N|MAGED1_uc004dpo.2_Missense_Mutation_p.Y509N NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 509 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) CACTGATGTTTATCCAGAAAT 0.488 NA Multiple Myeloma(10;0.10) 5 77 0 0 0.001168 0 0 ALAS2 212 broad.mit.edu 37 X 55040070 55040070 + Silent SNP T T G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:55040070T>G uc004dua.3 - 10 1587 c.1449A>C c.(1447-1449)GCA>GCC p.A483A ALAS2_uc004dub.3_Silent_p.A470A|ALAS2_uc004dud.3_Silent_p.A446A NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 483 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) TGTTGAGTGCTGCATTGCCCA 0.547 NA 5 37 0 0 0.000602 0 0 FAM123B 139285 broad.mit.edu 37 X 63412380 63412380 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:63412380C>G uc004dvo.2 - 2 1060 c.787G>C c.(787-789)GAG>CAG p.E263Q NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 263 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GCACAGGCCTCCATGGGTTTT 0.547 NA 16 215 0 0 0.00499 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70521703 70521703 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:70521703C>G uc004dzr.1 + 1 76 c.47C>G c.(46-48)CCT>CGT p.P16R BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 16 Cys-rich.|CHORD 1. muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) CACTTTGACCCTAATACCAAC 0.532 NA 3 82 0 0 0.004672 0 0 TAF1 6872 broad.mit.edu 37 X 70627911 70627911 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:70627911C>A uc004dzu.3 + 28 4342 c.4291C>A c.(4291-4293)CGC>AGC p.R1431S BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1452S|TAF1_uc004dzv.3_Missense_Mutation_p.R605S|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1431 Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) ACAAACACTCCGCGAAAACGT 0.453 NA 9 152 0.00621372 0.00664495 0.006214 1 0 OGT 8473 broad.mit.edu 37 X 70787503 70787503 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:70787503G>T uc004eaa.1 + 20 2960 c.2743G>T c.(2743-2745)GGC>TGC p.G915C BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.G905C|OGT_uc004eac.2_Missense_Mutation_p.G776C|OGT_uc004ead.2_Missense_Mutation_p.G534C NM_181672 NP_858058 O15294 OGT1_HUMAN O-linked GlcNAc transferase isoform 1 915 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity ovary(3)|kidney(1)|pancreas(1) 5 Renal(35;0.156) CGTCAGGAGAGGCCAGCTGGC 0.527 NA 6 49 2.0095e-06 2.44603e-06 0.001984 1 0 PHKA1 5255 broad.mit.edu 37 X 71855067 71855067 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:71855067C>T uc004eax.3 - 16 1953 c.1652G>A c.(1651-1653)TGT>TAT p.C551Y PHKA1_uc004eay.3_Missense_Mutation_p.C551Y|PHKA1_uc011mqi.1_Missense_Mutation_p.C551Y NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 551 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) CCAGCGGCTACAGAGGTAGGA 0.483 NA 11 59 0 0 0.008291 0 0 CDX4 1046 broad.mit.edu 37 X 72667527 72667527 + Silent SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:72667527C>A uc011mqk.1 + 1 438 c.438C>A c.(436-438)GCC>GCA p.A146A NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 146 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) CCGCCAAGGCCAGTTCCCCCA 0.642 NA 15 28 1.52009e-12 2.21639e-12 0.003163 1 0 ABCB7 22 broad.mit.edu 37 X 74290242 74290242 + Missense_Mutation SNP C C T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:74290242C>T uc004eca.2 - 10 1348 c.1323G>A c.(1321-1323)ATG>ATA p.M441I ABCB7_uc004ebz.2_Missense_Mutation_p.M442I|ABCB7_uc011mqn.1_Missense_Mutation_p.M415I|ABCB7_uc010nls.2_Missense_Mutation_p.M402I|ABCB7_uc010nlt.2_Missense_Mutation_p.M401I NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 441 cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 ACAAGGTGTTCATATCTATGA 0.358 NA 17 224 0 0 0.00499 0 0 ATRX 546 broad.mit.edu 37 X 76937081 76937081 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:76937081C>G uc004ecp.3 - 9 3899 c.3667G>C c.(3667-3669)GAA>CAA p.E1223Q ATRX_uc004ecq.3_Missense_Mutation_p.E1185Q|ATRX_uc004eco.3_Missense_Mutation_p.E1008Q|ATRX_uc004ecr.2_Missense_Mutation_p.E1155Q|ATRX_uc010nlx.1_Missense_Mutation_p.E1194Q|ATRX_uc010nly.1_Missense_Mutation_p.E1168Q NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1223 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) ATTTTCTGTTCATCGCTGCTT 0.343 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 14 182 0 0 0.00245 0 0 ATP7A 538 broad.mit.edu 37 X 77266706 77266706 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:77266706G>T uc004ecx.3 + 8 2063 c.1903G>T c.(1903-1905)GAT>TAT p.D635Y ATP7A_uc004ecw.2_3'UTR NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 635 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 GGTCAAGAAGGATCGGTCAGC 0.303 NA 7 121 0.00198382 0.00216243 0.001984 1 0 BRWD3 254065 broad.mit.edu 37 X 79980529 79980529 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:79980529G>A uc004edt.2 - 15 1687 c.1424C>T c.(1423-1425)CCA>CTA p.P475L BRWD3_uc004edo.2_Missense_Mutation_p.P71L|BRWD3_uc004edp.2_Missense_Mutation_p.P304L|BRWD3_uc004edq.2_Missense_Mutation_p.P71L|BRWD3_uc010nmj.1_Missense_Mutation_p.P71L|BRWD3_uc004edr.2_Missense_Mutation_p.P145L|BRWD3_uc004eds.2_Missense_Mutation_p.P71L|BRWD3_uc004edu.2_Missense_Mutation_p.P145L|BRWD3_uc004edv.2_Missense_Mutation_p.P71L|BRWD3_uc004edw.2_Missense_Mutation_p.P71L|BRWD3_uc004edx.2_Missense_Mutation_p.P71L|BRWD3_uc004edy.2_Missense_Mutation_p.P71L|BRWD3_uc004edz.2_Missense_Mutation_p.P145L|BRWD3_uc004eea.2_Missense_Mutation_p.P145L|BRWD3_uc004eeb.2_Missense_Mutation_p.P71L NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 475 WD 8. ovary(4) 4 TTGATCAAATGGATGGGCTTC 0.358 NA 3 46 0 0 0.004672 0 0 POU3F4 5456 broad.mit.edu 37 X 82763626 82763626 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:82763626G>A uc004eeg.2 + 1 358 c.294G>A c.(292-294)TCG>TCA p.S98S NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 98 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 ATCACCGCTCGCCACACGTAG 0.672 NA 7 11 0 0 0.001984 0 0 POU3F4 5456 broad.mit.edu 37 X 82763897 82763897 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:82763897C>A uc004eeg.2 + 1 629 c.565C>A c.(565-567)CCA>ACA p.P189T NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 189 POU-specific. sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CGAGGAGACGCCAACCTCTGA 0.602 NA 22 13 3.62473e-10 4.96478e-10 0.012319 1 0 CPXCR1 53336 broad.mit.edu 37 X 88009014 88009014 + Nonsense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:88009014C>A uc004efd.3 + 3 858 c.599C>A c.(598-600)TCG>TAG p.S200* CPXCR1_uc004efc.3_Nonsense_Mutation_p.S200* NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 200 intracellular zinc ion binding ovary(3) 3 AGAAGGCCTTCGAGGGTGCAC 0.418 NA 16 26 6.31663e-08 8.15747e-08 0.003163 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177192 89177192 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:89177192T>A uc004efe.2 + 2 157 c.108T>A c.(106-108)AAT>AAA p.N36K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 36 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TGTCGAGAAATAACGCAGATA 0.572 NA 18 26 0 0 0.004289 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177194 89177194 + Missense_Mutation SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:89177194A>G uc004efe.2 + 2 159 c.110A>G c.(109-111)AAC>AGC p.N37S NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 37 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TCGAGAAATAACGCAGATACA 0.562 NA 17 25 0 0 0.003755 0 0 XKRX 402415 broad.mit.edu 37 X 100183084 100183084 + Silent SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:100183084G>C uc004egn.2 - 1 815 c.210C>G c.(208-210)ACC>ACG p.T70T XKRX_uc011mre.1_5'UTR NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 70 Helical; (Potential). integral to membrane|plasma membrane breast(1) 1 AGAAAGAAAAGGTGTATGTCA 0.383 NA 52 66 0 0 0.01441 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857749 101857749 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:101857749C>A uc004ejg.2 + 6 1561 c.680C>A c.(679-681)GCC>GAC p.A227D ARMCX5_uc004ejh.2_Missense_Mutation_p.A227D NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 227 binding ovary(1) 1 TGGTCAAGGGCCAGGTATATT 0.473 NA 9 120 2.17888e-05 2.52959e-05 0.006214 1 0 BHLHB9 80823 broad.mit.edu 37 X 102004609 102004609 + Missense_Mutation SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:102004609C>G uc010nog.2 + 4 1257 c.686C>G c.(685-687)GCT>GGT p.A229G BHLHB9_uc011mrq.1_Missense_Mutation_p.A229G|BHLHB9_uc011mrr.1_Missense_Mutation_p.A229G|BHLHB9_uc011mrs.1_Missense_Mutation_p.A229G|BHLHB9_uc011mrt.1_Missense_Mutation_p.A229G|BHLHB9_uc004ejo.2_Missense_Mutation_p.A229G|BHLHB9_uc011mru.1_Missense_Mutation_p.A229G|BHLHB9_uc011mrv.1_Missense_Mutation_p.A229G NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 229 cytoplasm|nucleus binding ovary(2) 2 GTAACTCCAGCTGTGTTAGGA 0.473 NA 36 167 0 0 0.004878 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529194 102529194 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:102529194G>T uc004ejz.1 - 3 593 c.298C>A c.(298-300)CCG>ACG p.P100T NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 GCGGCCCGCGGCTGGCTCTCT 0.592 NA 17 139 3.52763e-06 4.24066e-06 0.00499 1 0 RAB9B 51209 broad.mit.edu 37 X 103080375 103080375 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:103080375G>A uc004ell.1 - 3 625 c.340C>T c.(340-342)CCT>TCT p.P114S RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 114 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 AAATGCTCAGGGTCCTTCACA 0.483 NA 165 179 0 0 0.01441 0 0 IRS4 8471 broad.mit.edu 37 X 107978507 107978507 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:107978507G>T uc004eoc.2 - 1 1101 c.1068C>A c.(1066-1068)TCC>TCA p.S356S NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 356 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GCCTCCTAGCGGACAGCAGGG 0.622 NA 16 199 2.31682e-05 2.68056e-05 0.003163 1 0 ACSL4 2182 broad.mit.edu 37 X 108911376 108911376 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:108911376C>A uc004eoi.2 - 12 1897 c.1392G>T c.(1390-1392)CAG>CAT p.Q464H ACSL4_uc004eoj.2_Missense_Mutation_p.Q423H|ACSL4_uc004eok.2_Missense_Mutation_p.Q423H|ACSL4_uc010npp.1_Missense_Mutation_p.Q464H NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 464 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) GTCCATAACCCTGGCCAATTG 0.473 Pancreas(188;358 2127 38547 41466 45492) NA 6 114 8.12818e-05 9.26203e-05 0.001984 1 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760065 119760065 + Nonstop_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:119760065T>A uc004esy.2 - 3 1304 c.957A>T c.(955-957)TGA>TGT p.*319C C1GALT1C1_uc004esz.2_Nonstop_Mutation_p.*319C NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 319 integral to membrane 0 CTACCACTTCTCAGTCATTGT 0.373 NA 39 44 0 0 0.00874 0 0 STAG2 10735 broad.mit.edu 37 X 123210221 123210221 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:123210221T>C uc004etz.3 + 25 2912 c.2573T>C c.(2572-2574)CTG>CCG p.L858P STAG2_uc004eua.2_Missense_Mutation_p.L858P|STAG2_uc004eub.2_Missense_Mutation_p.L858P|STAG2_uc004euc.2_Missense_Mutation_p.L858P|STAG2_uc004eud.2_Missense_Mutation_p.L858P|STAG2_uc004eue.2_Missense_Mutation_p.L858P NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 858 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 ATTGAAGCTCTGCACAAGAGA 0.343 NA 12 152 0 0 0.013537 0 0 ODZ1 10178 broad.mit.edu 37 X 123515010 123515010 + Silent SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:123515010G>C uc004euj.2 - 31 7618 c.7554C>G c.(7552-7554)GTC>GTG p.V2518V ODZ1_uc011muj.1_Silent_p.V2524V|ODZ1_uc010nqy.2_Silent_p.V2525V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2518 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AAACAGAAGGGACAGCAGCAA 0.458 NA 15 146 0 0 0.003163 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299761 125299761 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:125299761G>A uc004euk.1 - 1 174 c.147C>T c.(145-147)CGC>CGT p.R49R NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 49 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCACCAGCCTGCGACGCGTCG 0.726 NA 26 27 0 0 0.00632 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128881584 128881584 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:128881584C>A uc004eut.1 + 7 736 c.492C>A c.(490-492)GAC>GAA p.D164E XPNPEP2_uc011mum.1_Missense_Mutation_p.D164E NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 164 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 TCTCTGCAGACACCTGGGAGA 0.512 NA 47 47 7.88023e-25 1.37701e-24 0.01441 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130217848 130217848 + Missense_Mutation SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:130217848G>A uc004evz.2 + 4 805 c.460G>A c.(460-462)GTG>ATG p.V154M ARHGAP36_uc004ewa.2_Missense_Mutation_p.V142M|ARHGAP36_uc004ewb.2_Missense_Mutation_p.V123M|ARHGAP36_uc004ewc.2_Missense_Mutation_p.V18M NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 154 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TCGGGGAAACGTGGTGCGAAG 0.632 NA 9 128 0 0 0.008291 0 0 IGSF1 3547 broad.mit.edu 37 X 130416645 130416645 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:130416645C>A uc004ewd.2 - 7 1257 c.1019G>T c.(1018-1020)AGC>ATC p.S340I IGSF1_uc004ewe.3_Missense_Mutation_p.S329I|IGSF1_uc004ewf.2_Missense_Mutation_p.S320I NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 340 Ig-like C2-type 4.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 ACACCGTAGGCTCACATTCTG 0.498 NA 8 109 5.18039e-06 6.17277e-06 0.00308 1 0 DDX26B 203522 broad.mit.edu 37 X 134680668 134680668 + Silent SNP A A T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:134680668A>T uc004eyw.3 + 5 834 c.471A>T c.(469-471)CTA>CTT p.L157L NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 157 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAAGTGAACTAACCAAAGAAC 0.433 NA 90 96 0 0 0.01441 0 0 GPR112 139378 broad.mit.edu 37 X 135428834 135428834 + Missense_Mutation SNP T T C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:135428834T>C uc004ezu.1 + 6 3260 c.2969T>C c.(2968-2970)TTG>TCG p.L990S GPR112_uc010nsb.1_Missense_Mutation_p.L785S|GPR112_uc010nsc.1_Missense_Mutation_p.L757S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 990 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GCTACGTCCTTGTCTGATGGT 0.493 NA 20 256 0 0 0.008871 0 0 GPR101 83550 broad.mit.edu 37 X 136112696 136112696 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:136112696G>T uc011mwh.1 - 1 1138 c.1138C>A c.(1138-1140)CGT>AGT p.R380S NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 380 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CTGTTACGACGACTGGGTGGG 0.512 NA 6 161 0.00116845 0.00128189 0.001168 1 0 F9 2158 broad.mit.edu 37 X 138643882 138643882 + Silent SNP C C G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:138643882C>G uc004fas.1 + 8 1067 c.1038C>G c.(1036-1038)CTC>CTG p.L346L F9_uc004fat.1_Silent_p.L308L NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 346 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ACATCTTCCTCAAATTTGGAT 0.453 NA 65 154 0 0 0.01441 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291679 141291679 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:141291679G>T uc004fbu.1 - 3 443 c.95C>A c.(94-96)ACA>AAA p.T32K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 32 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTCATCTGTGGGATGCTG 0.522 NA HNSCC(46;0.14) 107 139 5.67068e-62 1.06208e-61 0.01441 1 0 AFF2 2334 broad.mit.edu 37 X 147743758 147743758 + Silent SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:147743758G>T uc004fcp.2 + 3 989 c.510G>T c.(508-510)CTG>CTT p.L170L AFF2_uc004fco.2_Silent_p.L166L|AFF2_uc004fcq.2_Silent_p.L166L|AFF2_uc004fcr.2_Silent_p.L166L|AFF2_uc011mxb.1_Silent_p.L170L|AFF2_uc004fcs.2_Silent_p.L166L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 170 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GCACTGTACTGGCAAGCCAGG 0.468 NA 17 188 4.75885e-15 7.4515e-15 0.00499 1 0 AFF2 2334 broad.mit.edu 37 X 148059973 148059973 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:148059973G>T uc004fcp.2 + 18 4037 c.3558G>T c.(3556-3558)ATG>ATT p.M1186I AFF2_uc004fcq.2_Missense_Mutation_p.M1176I|AFF2_uc004fcr.2_Missense_Mutation_p.M1147I|AFF2_uc011mxb.1_Missense_Mutation_p.M1151I|AFF2_uc004fcs.2_Missense_Mutation_p.M1151I|AFF2_uc011mxc.1_Missense_Mutation_p.M827I NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 1186 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GATCACTGATGGAATATTTTA 0.363 NA 54 64 5.22555e-25 9.15485e-25 0.01441 1 0 CD99L2 83692 broad.mit.edu 37 X 149945946 149945946 + Missense_Mutation SNP C C G rs143706982 TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:149945946C>G uc004fel.2 - 8 624 c.506G>C c.(505-507)CGG>CCG p.R169P CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.R120P|CD99L2_uc004fen.2_Missense_Mutation_p.R97P|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Missense_Mutation_p.R96P NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 169 Extracellular (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCTGCCGTACCGGCCATCACC 0.493 NA 11 92 0 0 0.001855 0 0 CD99L2 83692 broad.mit.edu 37 X 149962192 149962192 + Silent SNP A A G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:149962192A>G uc004fel.2 - 7 586 c.468T>C c.(466-468)GGT>GGC p.G156G CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Silent_p.G107G|CD99L2_uc004fen.2_Silent_p.G84G|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 156 Extracellular (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGTATTCTCCACCCCCTACTA 0.373 NA 3 51 0 0 0.009096 0 0 GABRE 2564 broad.mit.edu 37 X 151123293 151123293 + Silent SNP G G A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:151123293G>A uc004ffi.2 - 9 1455 c.1401C>T c.(1399-1401)ACC>ACT p.T467T GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 467 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway 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 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCTGCCAGGTACTGCCCT 0.552 NA 6 67 0 0 0.001984 0 0 PLXNB3 5365 broad.mit.edu 37 X 153039434 153039434 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:153039434G>C uc004fii.2 + 20 3574 c.3400G>C c.(3400-3402)GCC>CCC p.A1134P PLXNB3_uc010nuk.2_Missense_Mutation_p.A1157P|PLXNB3_uc011mzd.1_Missense_Mutation_p.A773P|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1134 IPT/TIG 3.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AGTGGACTTCGCCAGTGCCAG 0.687 NA 44 76 0 0 0.01441 0 0 SRPK3 26576 broad.mit.edu 37 X 153048509 153048509 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:153048509G>T uc004fil.2 + 7 716 c.684G>T c.(682-684)AGG>AGT p.R228S SRPK3_uc004fik.2_Missense_Mutation_p.R294S|SRPK3_uc010nul.2_Missense_Mutation_p.R186S|SRPK3_uc004fin.2_Missense_Mutation_p.R228S|SRPK3_uc004fim.2_Missense_Mutation_p.R228S NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 228 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTTACATCAGGCGCCTGGCTG 0.657 Esophageal Squamous(167;766 3400 32156) NA 4 127 8.12818e-05 9.26203e-05 0.001984 1 0 PLXNA3 55558 broad.mit.edu 37 X 153694838 153694838 + Missense_Mutation SNP C C A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:153694838C>A uc004flm.2 + 16 3092 c.2919C>A c.(2917-2919)AGC>AGA p.S973R NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 973 IPT/TIG 2.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGAGGGACAGCGAGTGCCAGT 0.692 NA 10 119 0.000442599 0.000492746 0.006214 1 0 FUNDC2 65991 broad.mit.edu 37 X 154261737 154261737 + Missense_Mutation SNP T T A TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chrX:154261737T>A uc004fmw.2 + 2 343 c.193T>A c.(193-195)TGG>AGG p.W65R NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 65 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GAAGCAGCCATGGTGGCGTAA 0.428 NA 6 165 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152187509 152187509 + Frame_Shift_Del DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr1:152187509delC uc001ezt.1 - 3 6672 c.6596delG c.(6595-6597)GGCfs p.G2199fs NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2199 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCATGTTGGCCGTGGCTGGA 0.627 NA 22 1146 --- --- --- --- NA NA NA NA NA B4GALNT1 2583 broad.mit.edu 37 12 58020563 58020563 + Frame_Shift_Del DEL G G - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr12:58020563delG uc001spg.1 - 11 1998 c.1566delC c.(1564-1566)TTCfs p.F522fs B4GALNT1_uc010sru.1_Frame_Shift_Del_p.F467fs NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 522 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGTGTTTGAAGAAGAGCAGCC 0.597 NA 53 145 --- --- --- --- NA NA NA NA NA NEK3 4752 broad.mit.edu 37 13 52728029 52728029 + Splice_Site DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr13:52728029delC uc001vgi.2 - 4 544 c.309_splice c.e4+1 p.M103_splice NEK3_uc001vgg.2_Splice_Site_p.M97_splice|NEK3_uc001vgh.2_Splice_Site_p.M124_splice|NEK3_uc010tgx.1_Splice_Site|NEK3_uc010tgy.1_Splice_Site_p.M103_splice NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CAATCTCTTACCATGTCTTCA 0.333 NA 13 111 --- --- --- --- NA NA NA NA NA MYO15A 51168 broad.mit.edu 37 17 18044107 18044107 + Frame_Shift_Del DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:18044107delC uc010vxh.1 + 20 5705 c.5367delC c.(5365-5367)AACfs p.N1789fs NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1789 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) CCAGGTGCAACCCCTTGTTCA 0.522 NA OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 66 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29654741 29654742 + Frame_Shift_Ins INS - - T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr17:29654741_29654742insT uc002hgg.2 + 38 5826_5827 c.5493_5494insT c.(5491-5496)TGGGAAfs p.W1831fs NF1_uc002hgh.2_Frame_Shift_Ins_p.W1810fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.W843fs|NF1_uc010cso.2_Frame_Shift_Ins_p.W19fs NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1831_1832 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGACCCGCTGGGAACTGTCACA 0.51 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 29 124 --- --- --- --- NA NA NA NA NA EHD2 30846 broad.mit.edu 37 19 48239761 48239761 + Frame_Shift_Del DEL G G - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr19:48239761delG uc002phj.3 + 5 1301 c.1051delG c.(1051-1053)GGGfs p.G351fs EHD2_uc010xyu.1_Frame_Shift_Del_p.G215fs|EHD2_uc010xyv.1_Frame_Shift_Del_p.G34fs NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 351 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CATCTCCCCTGGGGACTTTCC 0.527 NA 27 41 --- --- --- --- NA NA NA NA NA C20orf132 140699 broad.mit.edu 37 20 35766357 35766357 + Frame_Shift_Del DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr20:35766357delC uc010zvu.1 - 15 1626 c.1535delG c.(1534-1536)GGAfs p.G512fs C20orf132_uc002xgk.2_Frame_Shift_Del_p.G134fs|C20orf132_uc002xgm.2_Frame_Shift_Del_p.G512fs|C20orf132_uc002xgn.2_Frame_Shift_Del_p.G477fs NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 387 0 Myeloproliferative disorder(115;0.00878) ACAGATAACTCCCATAATTTC 0.408 NA 12 16 --- --- --- --- NA NA NA NA NA GNAZ 2781 broad.mit.edu 37 22 23438319 23438319 + Frame_Shift_Del DEL A A - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:23438319delA uc002zwu.1 + 2 974 c.437delA c.(436-438)GAGfs p.E146fs RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 146 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CGCTCCAGCGAGTACCACCTG 0.662 NA 7 54 --- --- --- --- NA NA NA NA NA AP1B1 162 broad.mit.edu 37 22 29745310 29745311 + Frame_Shift_Ins INS - - G TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr22:29745310_29745311insG uc003afj.2 - 11 1517_1518 c.1333_1334insC c.(1333-1335)CGGfs p.R445fs AP1B1_uc003afi.2_Frame_Shift_Ins_p.R445fs|AP1B1_uc003afk.2_Frame_Shift_Ins_p.R445fs|AP1B1_uc003afl.2_Frame_Shift_Ins_p.R445fs|AP1B1_uc011ako.1_5'UTR NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 445 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 CATGGCAGCCCGGGCCTCAGGC 0.584 NA 52 68 --- --- --- --- NA NA NA NA NA OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 TTGAG TTGAG - - TTGAG TTGAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:4204225_4204229delTTGAG uc003ghp.1 - 4 706_710 c.676_680delCTCAA c.(676-681)CTCAATfs p.L226fs NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 226_227 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 NA 7 170 --- --- --- --- NA NA NA NA NA UNC5C 8633 broad.mit.edu 37 4 96090406 96090407 + Frame_Shift_Ins INS - - CC TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr4:96090406_96090407insCC uc003htp.1 - 16 2928_2929 c.2774_2775insGG c.(2773-2775)TTAfs p.L925fs uc003hto.2_5'Flank NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 925 Cytoplasmic (Potential).|Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CTTCTGCTGCTAAGGACACCAC 0.51 NA 42 122 --- --- --- --- NA NA NA NA NA DST 667 broad.mit.edu 37 6 56510720 56510720 + Frame_Shift_Del DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr6:56510720delC uc003pdf.2 - 14 1651 c.1623delG c.(1621-1623)GGGfs p.G541fs DST_uc003pcz.3_Frame_Shift_Del_p.G363fs|DST_uc011dxj.1_Frame_Shift_Del_p.G392fs|DST_uc011dxk.1_Frame_Shift_Del_p.G403fs|DST_uc011dxl.1_Frame_Shift_Del_p.G392fs|DST_uc003pde.2_Frame_Shift_Del_p.G479fs NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 363 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAATGAGTTTCCCCCACTCTT 0.418 NA 37 121 --- --- --- --- NA NA NA NA NA STEAP2 261729 broad.mit.edu 37 7 89859319 89859319 + Frame_Shift_Del DEL C C - TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr7:89859319delC uc003ujz.2 + 4 1547 c.1154delC c.(1153-1155)GCTfs p.A385fs STEAP2_uc010len.2_Frame_Shift_Del_p.A385fs|STEAP2_uc003uka.2_Frame_Shift_Del_p.A385fs|STEAP2_uc003ukb.2_Frame_Shift_Del_p.A385fs|STEAP2_uc003ukc.2_Frame_Shift_Del_p.A385fs|STEAP2_uc003ukd.2_Frame_Shift_Del_p.A385fs NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 385 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) GTGAGCAATGCTTTAAACTGG 0.398 NA 53 331 --- --- --- --- NA NA NA NA NA CEL 1056 broad.mit.edu 37 9 135947097 135947098 + Frame_Shift_Ins INS - - C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9f82f494-042a-4f00-954c-4761fa25b298 25c0da49-0dd3-4eac-a262-756b8e3870dc g.chr9:135947097_135947098insC uc010naa.1 + 11 2233_2234 c.2217_2218insC c.(2215-2220)GTGCCCfs p.V739fs NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 736_737 17.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CTGCCCCTGTGCCCCCCACAGA 0.658 NA 8 20 --- --- --- --- NA NA NA NA NA