Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CASP9 842 broad.mit.edu 37 1 15833532 15833532 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:15833532G>A uc001awn.2 - 4 587 c.492C>T c.(490-492)CTC>CTT p.L164L CASP9_uc001awm.1_Silent_p.L164L|CASP9_uc001awo.2_Intron|CASP9_uc001awp.2_Silent_p.L8L|CASP9_uc009voi.2_Silent_p.L8L|CASP9_uc010obm.1_Silent_p.L81L|CASP9_uc001awq.2_Silent_p.L81L NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 164 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TGTTGATAATGAGGCAGTGGC 0.612 27 111 --- --- --- --- PASS C1orf144 26099 broad.mit.edu 37 1 16721555 16721555 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:16721555G>A uc001aym.3 + 4 549 c.379G>A c.(379-381)GAA>AAA p.E127K C1orf144_uc010ocb.1_Missense_Mutation_p.E107K|C1orf144_uc001ayi.3_Missense_Mutation_p.E108K|C1orf144_uc001ayk.3_Missense_Mutation_p.E107K NM_001114600 NP_001108072 Q7Z422 CA144_HUMAN putative MAPK activating protein PM20,PM21 127 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCAACCCGAAGACAGCAG 0.448 12 57 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27092947 27092947 + Splice_Site SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:27092947G>C uc001bmv.1 + 10 3252 c.2879_splice c.e10-1 p.G960_splice ARID1A_uc001bmt.1_Splice_Site_p.G960_splice|ARID1A_uc001bmu.1_Splice_Site_p.G960_splice|ARID1A_uc001bmw.1_Splice_Site_p.G577_splice NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTCTTTTACAGGGATGGCAGC 0.448 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 20 36 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27092948 27092948 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:27092948G>T uc001bmv.1 + 10 3252 c.2879G>T c.(2878-2880)GGG>GTG p.G960V ARID1A_uc001bmt.1_Missense_Mutation_p.G960V|ARID1A_uc001bmu.1_Missense_Mutation_p.G960V|ARID1A_uc001bmw.1_Missense_Mutation_p.G577V NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 960 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCTTTTACAGGGATGGCAGCC 0.448 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 18 36 --- --- --- --- PASS MAP3K6 9064 broad.mit.edu 37 1 27682928 27682928 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:27682928C>T uc001bny.1 - 26 3837 c.3588G>A c.(3586-3588)CAG>CAA p.Q1196Q MAP3K6_uc009vsw.1_Silent_p.Q1188Q NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1196 Potential. activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CATTCAGCCGCTGTAGAGCCC 0.612 19 28 --- --- --- --- PASS LCK 3932 broad.mit.edu 37 1 32740636 32740636 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:32740636A>T uc001bux.2 + 4 368 c.230A>T c.(229-231)GAC>GTC p.D77V LCK_uc001buy.2_Missense_Mutation_p.D77V|LCK_uc001buz.2_Missense_Mutation_p.D77V|LCK_uc010ohc.1_Missense_Mutation_p.D121V|LCK_uc001bva.2_Missense_Mutation_p.D135V NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 77 SH3. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CCCTCTCACGACGGAGATCTG 0.597 T TRB@ T-ALL 19 104 --- --- --- --- PASS COL9A2 1298 broad.mit.edu 37 1 40767500 40767500 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:40767500C>A uc001cfh.1 - 31 1924 c.1854G>T c.(1852-1854)GGG>GGT p.G618G COL9A2_uc001cfi.1_Silent_p.G437G NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 618 Triple-helical region 2 (COL2). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) TCCCTGGGGGCCCAGGCATCC 0.557 14 17 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44056825 44056825 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:44056825G>A uc001cjr.2 + 9 1472 c.1132G>A c.(1132-1134)GGC>AGC p.G378S PTPRF_uc001cjs.2_Missense_Mutation_p.G378S|PTPRF_uc001cju.2_5'UTR|PTPRF_uc009vwt.2_5'UTR|PTPRF_uc001cjv.2_5'UTR NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 378 Extracellular (Potential).|Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGCATTGGCGGCCTCAGCCC 0.662 40 55 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44072012 44072012 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:44072012G>A uc001cjr.2 + 20 3925 c.3585G>A c.(3583-3585)CCG>CCA p.P1195P PTPRF_uc001cjs.2_Silent_p.P1186P|PTPRF_uc001cju.2_Silent_p.P573P|PTPRF_uc009vwt.2_Silent_p.P755P|PTPRF_uc001cjv.2_Silent_p.P655P|PTPRF_uc001cjw.2_Silent_p.P421P NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1195 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGTGCTCCCGGAGACCTTTA 0.597 105 141 --- --- --- --- PASS L1TD1 54596 broad.mit.edu 37 1 62672649 62672649 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:62672649G>T uc001dae.3 + 3 651 c.349G>T c.(349-351)GGG>TGG p.G117W NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 117 ovary(1)|skin(1) 2 agggatggtagggaaaataga 0.050 62 97 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62740445 62740445 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:62740445G>C uc001dah.3 - 3 708 c.331C>G c.(331-333)CCG>GCG p.P111A KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 111 ovary(3)|skin(2)|lung(1) 6 TTACCAAGCGGTGGTGACTGG 0.622 8 63 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 63018566 63018566 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:63018566C>G uc001daq.2 - 22 2637 c.2603G>C c.(2602-2604)GGG>GCG p.G868A DOCK7_uc001dan.2_Missense_Mutation_p.G760A|DOCK7_uc001dao.2_Missense_Mutation_p.G760A|DOCK7_uc001dap.2_Missense_Mutation_p.G868A|DOCK7_uc001dam.2_Missense_Mutation_p.G48A NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 868 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TCCCAAACCCCCAGGACCTAG 0.388 14 25 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70502271 70502271 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:70502271C>T uc001dep.2 + 18 2168 c.2138C>T c.(2137-2139)GCT>GTT p.A713V LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 713 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CAGACAACAGCTAAAGATGCA 0.433 55 108 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74648482 74648482 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:74648482G>A uc001dfy.3 - 3 505 c.313C>T c.(313-315)CAT>TAT p.H105Y LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 105 LRR 3. ovary(2) 2 CCATTGTCATGAAGATAGAGT 0.308 21 30 --- --- --- --- PASS PTGFR 5737 broad.mit.edu 37 1 79002362 79002362 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:79002362C>T uc001din.2 + 3 1336 c.1070C>T c.(1069-1071)GCA>GTA p.A357V PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 357 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GAGAAATCAGCAAGCACCTAG 0.383 9 42 --- --- --- --- PASS GSTM4 2948 broad.mit.edu 37 1 110200278 110200278 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:110200278C>T uc001dyf.2 + 4 558 c.244C>T c.(244-246)CGC>TGC p.R82C GSTM4_uc001dyg.2_Intron|GSTM4_uc009wfj.2_Intron|GSTM4_uc001dyh.2_Missense_Mutation_p.R82C|GSTM2_uc001dyi.2_Intron NM_000850 NP_000841 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 isoform 1 82 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) CTACATTGCCCGCAAGCACAA 0.567 52 207 --- --- --- --- PASS DCLRE1B 64858 broad.mit.edu 37 1 114454011 114454011 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:114454011C>T uc001eeg.2 + 4 968 c.797C>T c.(796-798)CCT>CTT p.P266L DCLRE1B_uc001eeh.2_Missense_Mutation_p.P140L|DCLRE1B_uc001eei.2_Missense_Mutation_p.P140L NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 266 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTCCCACCCTGATATCCAC 0.527 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 61 67 --- --- --- --- PASS CHD1L 9557 broad.mit.edu 37 1 146765333 146765333 + Silent SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:146765333C>G uc001epm.3 + 21 2496 c.2433C>G c.(2431-2433)GTC>GTG p.V811V uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.V698V|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.V717V|CHD1L_uc010ozp.1_Silent_p.V530V|CHD1L_uc001epo.3_Silent_p.V607V|CHD1L_uc009wji.2_Silent_p.V530V NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 811 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) GTTCCAATGTCCTGTCTGGCA 0.463 20 329 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187683 152187683 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:152187683C>T uc001ezt.1 - 3 6498 c.6422G>A c.(6421-6423)GGA>GAA p.G2141E NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2141 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) AGATGACTGTCCTGATCTAGA 0.587 24 744 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152277980 152277980 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:152277980G>T uc001ezu.1 - 3 9418 c.9382C>A c.(9382-9384)CAT>AAT p.H3128N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3128 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTACCGAATGCTCGTGGTGG 0.592 Ichthyosis 106 317 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152278956 152278956 + Missense_Mutation SNP G C C rs137870179 byFrequency TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:152278956G>C uc001ezu.1 - 3 8442 c.8406C>G c.(8404-8406)CAC>CAG p.H2802Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2802 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGAATGCTCGTGGTGGTACC 0.597 Ichthyosis 85 492 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152284451 152284451 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:152284451G>A uc001ezu.1 - 3 2947 c.2911C>T c.(2911-2913)CGT>TGT p.R971C uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 971 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGATCCACGATGGTTTCTG 0.577 Ichthyosis 19 578 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156640164 156640164 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:156640164G>T uc001fpq.2 - 4 3949 c.3816C>A c.(3814-3816)CCC>CCA p.P1272P NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1272 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGGCCCTCGGGGATCTCCC 0.642 76 142 --- --- --- --- PASS OR10Z1 128368 broad.mit.edu 37 1 158576908 158576908 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:158576908G>T uc010pio.1 + 1 680 c.680G>T c.(679-681)AGG>ATG p.R227M NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GCAATACTGAGGATCCCCTCT 0.507 111 180 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158590127 158590127 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:158590127C>A uc001fst.1 - 44 6449 c.6250G>T c.(6250-6252)GAC>TAC p.D2084Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2084 Spectrin 20. 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) TCCTCATGGTCTTTCTGCAGC 0.488 27 59 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179452290 179452290 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:179452290G>T uc001gmo.2 + 18 2152 c.2025G>T c.(2023-2025)ATG>ATT p.M675I C1orf125_uc009wxg.2_RNA|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.M675I NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 675 0 TATTTAACATGATTCAACAAT 0.328 27 55 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180013242 180013242 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:180013242A>T uc001gnt.2 + 21 4939 c.4556A>T c.(4555-4557)CAT>CTT p.H1519L CEP350_uc009wxl.2_Missense_Mutation_p.H1518L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1519 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 GACTCAAAGCATCAGAAGTAT 0.333 7 5 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186270769 186270769 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:186270769G>A uc001gru.3 + 4 296 c.245G>A c.(244-246)AGG>AAG p.R82K PRG4_uc001grt.3_Missense_Mutation_p.R41K|PRG4_uc009wyl.2_Missense_Mutation_p.R82K|PRG4_uc009wym.2_Missense_Mutation_p.R41K|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 82 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GAGAGAGGGAGGGAGTGTGAC 0.488 8 84 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197298053 197298053 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:197298053C>T uc001gtz.2 + 2 707 c.572C>T c.(571-573)GCT>GTT p.A191V CRB1_uc010poz.1_Missense_Mutation_p.A122V|CRB1_uc001gty.1_Missense_Mutation_p.A191V|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A191V|CRB1_uc010ppb.1_Missense_Mutation_p.A191V NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 191 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 GATGAATGTGCTTCAGATCCC 0.458 19 30 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203192314 203192314 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:203192314G>T uc001gzn.2 - 6 650 c.554C>A c.(553-555)CCA>CAA p.P185Q FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.P176Q NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 185 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CTGCCCAGCTGGAACCGCTGC 0.572 48 96 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646467 207646467 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:207646467C>G uc001hfw.2 + 10 2015 c.1921C>G c.(1921-1923)CAG>GAG p.Q641E CR2_uc001hfv.2_Missense_Mutation_p.Q641E|CR2_uc009xch.2_Missense_Mutation_p.Q641E|CR2_uc009xci.1_Missense_Mutation_p.Q126E NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 641 Sushi 10.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GGGCAGTAGTCAGATTCGTTG 0.383 33 69 --- --- --- --- PASS CAMK1G 57172 broad.mit.edu 37 1 209768392 209768392 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:209768392A>G uc001hhd.2 + 2 166 c.64A>G c.(64-66)ACC>GCC p.T22A CAMK1G_uc001hhf.3_Missense_Mutation_p.T22A|CAMK1G_uc001hhe.2_Missense_Mutation_p.T22A NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 22 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CATCCGGAAAACCTTCATTTT 0.512 4 84 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 211192568 211192568 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:211192568G>T uc001hib.2 - 6 759 c.589C>A c.(589-591)CAG>AAG p.Q197K KCNH1_uc001hic.2_Missense_Mutation_p.Q197K NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 197 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGCTTGTACTGGGGAAGGATG 0.428 33 81 --- --- --- --- PASS C1orf69 200205 broad.mit.edu 37 1 228362694 228362694 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:228362694G>T uc001hsl.3 + 2 732 c.643G>T c.(643-645)GAC>TAC p.D215Y C1orf69_uc010pvw.1_Missense_Mutation_p.D22Y NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 215 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CCGGCTCGGGGACTTGTGGGA 0.657 9 24 --- --- --- --- PASS TRIM11 81559 broad.mit.edu 37 1 228584678 228584678 + Nonsense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:228584678C>A uc001hss.2 - 5 1084 c.829G>T c.(829-831)GGA>TGA p.G277* TRIM11_uc010pvx.1_Nonsense_Mutation_p.G276*|TRIM11_uc001hst.1_Nonsense_Mutation_p.G277* NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 277 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding p.G277*(1) lung(3)|ovary(1) 4 Prostate(94;0.0724) TCTACCAGTCCCGGGACCCTG 0.637 18 29 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237919649 237919649 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:237919649C>A uc001hyl.1 + 81 11327 c.11207C>A c.(11206-11208)GCG>GAG p.A3736E RYR2_uc010pya.1_Missense_Mutation_p.A151E NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3736 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) GATCGTGGCGCGGCTGAGATG 0.478 18 39 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240255947 240255947 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:240255947G>T uc010pyd.1 + 1 763 c.538G>T c.(538-540)GAC>TAC p.D180Y FMN2_uc010pye.1_Missense_Mutation_p.D180Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 180 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) CTCGGGCTCGGACACGGACAT 0.552 12 48 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241964483 241964483 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:241964483T>A uc001hzf.1 + 17 2024 c.1871T>A c.(1870-1872)CTG>CAG p.L624Q WDR64_uc001hzg.1_Missense_Mutation_p.L537Q NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 1071 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CAAATAAATCTGGCTTCTTCC 0.383 30 103 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243329005 243329005 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:243329005G>T uc001hzs.2 - 13 2665 c.2257C>A c.(2257-2259)CAA>AAA p.Q753K CEP170_uc001hzt.2_Missense_Mutation_p.Q655K|CEP170_uc001hzu.2_Missense_Mutation_p.Q655K|CEP170_uc001hzv.1_Missense_Mutation_p.Q131K NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 753 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TCCTCCCTTTGTTCTTGTTGT 0.383 16 226 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039277 248039277 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:248039277G>C uc001ido.2 + 6 995 c.947G>C c.(946-948)GGA>GCA p.G316A OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 316 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTGCAGGATGGAGAACCATGG 0.587 6 61 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112246 248112246 + Silent SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:248112246C>G uc001idt.1 + 1 87 c.87C>G c.(85-87)CTC>CTG p.L29L OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(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) TCTTCATTCTCATTGTTTTCA 0.388 49 167 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263294 248263294 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:248263294T>C uc001ids.2 + 3 954 c.617T>C c.(616-618)CTC>CCC p.L206P NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) AGCCTCTTTCTCCTTTTCCCT 0.443 35 78 --- --- --- --- PASS OR2M4 26245 broad.mit.edu 37 1 248402623 248402623 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:248402623G>C uc010pzh.1 + 1 393 c.393G>C c.(391-393)CAG>CAC p.Q131H NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 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) ACCCTCTTCAGTACACCATCC 0.473 35 77 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436434 248436434 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr1:248436434G>T uc010pzi.1 - 1 683 c.683C>A c.(682-684)TCT>TAT p.S228Y NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGCTTCTGTAGAGCGCATGTG 0.512 9 45 --- --- --- --- PASS ROCK2 9475 broad.mit.edu 37 2 11426670 11426670 + Nonsense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:11426670G>A uc002rbd.1 - 3 768 c.319C>T c.(319-321)CAG>TAG p.Q107* NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 107 Protein kinase. 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) CTTACCAACTGCACTTCACCA 0.318 11 187 --- --- --- --- PASS MSGN1 343930 broad.mit.edu 37 2 17997991 17997991 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:17997991G>T uc010yjt.1 + 1 206 c.206G>T c.(205-207)TGT>TTT p.C69F NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 69 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGGCTGCCCTGTGAGCACGGC 0.617 17 96 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32477621 32477621 + Nonsense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:32477621G>T uc002roi.2 - 3 375 c.129C>A c.(127-129)TGC>TGA p.C43* NLRC4_uc002roj.1_Nonsense_Mutation_p.C43*|NLRC4_uc010ezt.1_Nonsense_Mutation_p.C43* NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 43 CARD. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CCACCTTCTCGCAGCAAATGA 0.403 18 165 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60688573 60688573 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:60688573C>T uc002sae.1 - 4 1702 c.1474G>A c.(1474-1476)GAG>AAG p.E492K BCL11A_uc002sab.2_Missense_Mutation_p.E492K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E161K|BCL11A_uc010ypj.1_Missense_Mutation_p.E458K|BCL11A_uc002sad.1_Missense_Mutation_p.E340K|BCL11A_uc002saf.1_Missense_Mutation_p.E458K NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 492 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) tcctcttcctcgtcgtcctcc 0.428 T IGH@ B-CLL 4 28 --- --- --- --- PASS MTHFD2 10797 broad.mit.edu 37 2 74425778 74425778 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:74425778A>G uc002skk.2 + 1 89 c.10A>G c.(10-12)ACT>GCT p.T4A MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_5'UTR|MTHFD2_uc010ffb.2_Missense_Mutation_p.T4A|MTHFD2_uc010yrp.1_5'UTR NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 4 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) TATGGCTGCGACTTCTCTAAT 0.701 6 18 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79312345 79312345 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:79312345G>T uc002sny.2 - 6 610 c.498C>A c.(496-498)AAC>AAA p.N166K NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 166 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 GCTTCCTCTAGTTTTTGAACT 0.378 37 64 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80620418 80620418 + Splice_Site SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:80620418T>C uc010ysh.1 + 7 1142 c.1137_splice c.e7+2 p.Q379_splice CTNNA2_uc010yse.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysf.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysg.1_Splice_Site_p.Q379_splice|CTNNA2_uc010ysi.1_Splice_Site_p.Q11_splice NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGGAGACAGGTACTATTTTTT 0.343 13 157 --- --- --- --- PASS RPIA 22934 broad.mit.edu 37 2 89049497 89049497 + Splice_Site SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:89049497G>T uc002ste.2 + 9 880 c.839_splice c.e9-1 p.G280_splice NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) TTGTCCTGCAGGTGTGGTGGA 0.478 21 61 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89339774 89339774 + RNA SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:89339774G>T uc010ytr.1 - 64 c.6085C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TCAGGCTGCAGGCTGCTGATG 0.498 97 146 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90212099 90212099 + RNA SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:90212099C>A uc010fhm.2 + 26 c.3523C>A Parts of antibodies, mostly variable regions. GGCCAGGCTCCCAGGCTCCTC 0.592 9 116 --- --- --- --- PASS ZAP70 7535 broad.mit.edu 37 2 98349354 98349354 + Missense_Mutation SNP C T T rs56403250 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:98349354C>T uc002syd.1 + 5 779 c.572C>T c.(571-573)CCG>CTG p.P191L ZAP70_uc010yvf.1_Missense_Mutation_p.P191L|ZAP70_uc002sye.1_Missense_Mutation_p.P81L|ZAP70_uc002syf.1_5'Flank NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 191 SH2 2. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 AGGCTGAGGCCGCGGAAGGAG 0.637 6 63 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102625053 102625053 + Missense_Mutation SNP G T T rs148522700 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:102625053G>T uc002tbm.2 + 2 245 c.16G>T c.(16-18)GTG>TTG p.V6L IL1R2_uc002tbn.2_Missense_Mutation_p.V6L|IL1R2_uc002tbo.1_Missense_Mutation_p.V6L NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 6 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GCGCTTGTACGTGTTGGTAAT 0.532 28 300 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103148810 103148810 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:103148810G>T uc002tbz.3 + 12 2517 c.2060G>T c.(2059-2061)GGA>GTA p.G687V NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 687 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 AGTGATCCAGGATCCCCATCC 0.453 6 126 --- --- --- --- PASS SCTR 6344 broad.mit.edu 37 2 120204407 120204407 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:120204407G>A uc002tma.2 - 11 1294 c.1068C>T c.(1066-1068)ATC>ATT p.I356I SCTR_uc002tlz.2_Silent_p.I178I NM_002980 NP_002971 P47872 SCTR_HUMAN secretin receptor precursor 356 Helical; Name=6; (Potential). digestion|excretion integral to plasma membrane secretin receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Secretin(DB00021) AGGCGAAGACGATGTAGTGGA 0.592 19 133 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130832686 130832686 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:130832686G>T uc010fmh.2 - 17 2759 c.2359C>A c.(2359-2361)CAC>AAC p.H787N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 787 Actin-like. cell cortex ATP binding skin(3)|ovary(2) 5 AAGGTGTGGTGCCAGATCTTC 0.592 25 72 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130872836 130872836 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:130872836C>T uc010fmh.2 - 4 987 c.587G>A c.(586-588)CGA>CAA p.R196Q NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 196 ANK 1. cell cortex ATP binding skin(3)|ovary(2) 5 AAGTTGACATCGTCTGTCCAG 0.413 4 123 --- --- --- --- PASS CCDC115 84317 broad.mit.edu 37 2 131098596 131098596 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:131098596C>A uc002tqy.1 - 4 539 c.315G>T c.(313-315)AAG>AAT p.K105N CCDC115_uc002tqw.1_Missense_Mutation_p.K97N|CCDC115_uc010zaf.1_Missense_Mutation_p.K100N|CCDC115_uc002tqx.2_Missense_Mutation_p.K100N|CCDC115_uc002tqz.1_Missense_Mutation_p.K105N|IMP4_uc002tra.1_5'Flank NM_032357 NP_115733 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 105 endosome|lysosome 0 Colorectal(110;0.1) TAGTGGGGCCCTTGCGCCTCC 0.498 8 15 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136570498 136570498 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:136570498G>C uc002tuu.1 - 7 1747 c.1736C>G c.(1735-1737)GCC>GGC p.A579G NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 579 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CCAAGTTCTGGCATGAGCCTT 0.478 11 25 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138400099 138400099 + Nonsense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:138400099G>T uc002tva.1 + 20 3754 c.3754G>T c.(3754-3756)GGA>TGA p.G1252* THSD7B_uc010zbj.1_Intron 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) GCCAACCCAAGGAGAAGGACG 0.507 8 102 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141243020 141243020 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:141243020G>T uc002tvj.1 - 59 10289 c.9317C>A c.(9316-9318)ACA>AAA p.T3106K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3106 Extracellular (Potential).|LDL-receptor class B 29. 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) TCTTTTTTCTGTGTCAGACCA 0.388 TSP Lung(27;0.18) 17 45 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157138 145157138 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:145157138C>A uc002tvu.2 - 8 2096 c.1616G>T c.(1615-1617)TGC>TTC p.C539F ZEB2_uc002tvv.2_Missense_Mutation_p.C533F|ZEB2_uc010zbm.1_Missense_Mutation_p.C510F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.C568F NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 539 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTCTGGAGGCAAGCTTTGGC 0.393 30 66 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166892837 166892837 + Silent SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:166892837T>C uc010zcz.1 - 16 3135 c.3117A>G c.(3115-3117)CCA>CCG p.P1039P SCN1A_uc002udo.3_Silent_p.P919P|SCN1A_uc010fpk.2_Silent_p.P891P NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1050 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GATCATCAAGTGGTTTAATTT 0.303 4 58 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168102211 168102211 + Nonsense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:168102211C>T uc002udx.2 + 8 4327 c.4309C>T c.(4309-4311)CGA>TGA p.R1437* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1262*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1215*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1262 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAACTATATACGAACAGTAAG 0.338 4 52 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106300 168106300 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:168106300G>T uc002udx.2 + 8 8416 c.8398G>T c.(8398-8400)GTT>TTT p.V2800F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2625F|XIRP2_uc010fpq.2_Missense_Mutation_p.V2578F|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V146F NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2625 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCTCAAGATGGTTCCCAGGAA 0.413 10 56 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207172970 207172970 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:207172970G>A uc002vbp.2 + 5 3968 c.3718G>A c.(3718-3720)GGT>AGT p.G1240S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1240 nucleic acid binding|zinc ion binding ovary(3) 3 TGAAGCTAAGGGTTTTGAAAT 0.428 5 46 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209141537 209141537 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:209141537A>G uc002vcz.2 + 4 582 c.424A>G c.(424-426)ATG>GTG p.M142V PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.M142V|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.M142V|PIKFYVE_uc002vcx.2_Intron NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 142 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CAAGGAAATCATGGAGGGGAA 0.458 7 42 --- --- --- --- PASS PIKFYVE 200576 broad.mit.edu 37 2 209190212 209190212 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:209190212A>T uc002vcz.2 + 20 2835 c.2677A>T c.(2677-2679)ATT>TTT p.I893F PIKFYVE_uc010fun.1_Missense_Mutation_p.I574F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.I837F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 893 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CCATTCCCTGATTGAGGGACG 0.493 17 77 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228996729 228996729 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:228996729G>C uc002vpq.2 - 2 152 c.105C>G c.(103-105)AGC>AGG p.S35R SPHKAP_uc002vpp.2_Missense_Mutation_p.S35R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S35R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 35 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) TCCCCGGGCCGCTTCCTGAGC 0.468 11 144 --- --- --- --- PASS NEU4 129807 broad.mit.edu 37 2 242757900 242757900 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr2:242757900C>A uc010fzr.2 + 4 1067 c.981C>A c.(979-981)GGC>GGA p.G327G NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Silent_p.G327G|NEU4_uc002wcn.1_Silent_p.G339G|NEU4_uc002wco.1_Silent_p.G327G|NEU4_uc002wcp.1_Silent_p.G339G NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 327 Pro-rich. lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCCGTGGAGGCCAGGTGCCTG 0.706 4 15 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1415727 1415727 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:1415727C>A uc003boz.2 + 16 2332 c.2065C>A c.(2065-2067)CCA>ACA p.P689T CNTN6_uc011asj.1_Missense_Mutation_p.P617T|CNTN6_uc003bpa.2_Missense_Mutation_p.P689T NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 689 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACCAAGTGAACCATCAGAATT 0.373 29 41 --- --- --- --- PASS WNT7A 7476 broad.mit.edu 37 3 13860570 13860570 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:13860570C>A uc003bye.1 - 4 1226 c.921G>T c.(919-921)ATG>ATT p.M307I NM_004625 NP_004616 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, 307 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity ovary(2)|breast(1) 3 GCCCACAGCACATGAGGTCAC 0.647 28 35 --- --- --- --- PASS TGFBR2 7048 broad.mit.edu 37 3 30713392 30713392 + Silent SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:30713392A>G uc003ceo.2 + 4 1099 c.717A>G c.(715-717)ACA>ACG p.T239T TGFBR2_uc003cen.2_Silent_p.T264T NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 239 Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 ACCACAACACAGAGCTGCTGC 0.542 34 34 --- --- --- --- PASS CCDC13 152206 broad.mit.edu 37 3 42754710 42754710 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:42754710C>T uc003cly.3 - 14 1901 c.1817G>A c.(1816-1818)CGC>CAC p.R606H NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 606 Potential. ovary(1) 1 TGGCTCCAGGCGTATCTTCTC 0.522 39 77 --- --- --- --- PASS UBA7 7318 broad.mit.edu 37 3 49847489 49847489 + Silent SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:49847489T>A uc003cxr.2 - 14 1932 c.1761A>T c.(1759-1761)TCA>TCT p.S587S NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 587 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) AAGCTGCAGCTGAGGCAGGGG 0.602 33 43 --- --- --- --- PASS GNAT1 2779 broad.mit.edu 37 3 50231970 50231970 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:50231970A>G uc003cym.2 + 7 861 c.745A>G c.(745-747)ATC>GTC p.I249V GNAT1_uc003cyl.2_Missense_Mutation_p.I249V NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 249 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTTCAACAGCATCTGCAACCA 0.592 OREG0015580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 --- --- --- --- PASS NEK4 6787 broad.mit.edu 37 3 52777368 52777368 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:52777368C>A uc003dfq.3 - 12 2193 c.2004G>T c.(2002-2004)CAG>CAT p.Q668H NEK4_uc011bej.1_Missense_Mutation_p.Q579H|NEK4_uc003dfr.2_Missense_Mutation_p.Q622H NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 668 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) CGTAATGCACCTGAGTGACGC 0.517 68 114 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52818337 52818337 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:52818337C>A uc003dfs.2 + 11 1275 c.1251C>A c.(1249-1251)CTC>CTA p.L417L ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.L18L|ITIH1_uc010hmo.1_5'UTR NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 417 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CCCAAATCCTCAAGAACGTCC 0.602 7 13 --- --- --- --- PASS PRICKLE2 166336 broad.mit.edu 37 3 64085468 64085468 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:64085468C>A uc003dmf.2 - 8 2380 c.1794G>T c.(1792-1794)CAG>CAT p.Q598H NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 598 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CGCTCCGGAACTGCATGGACG 0.547 56 191 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77626709 77626709 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:77626709G>T uc003dpy.3 + 15 2915 c.2272G>T c.(2272-2274)GTT>TTT p.V758F ROBO2_uc003dpz.2_Missense_Mutation_p.V762F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V762F NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 758 Fibronectin type-III 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGTATTAGTGTTTCCTGGGA 0.463 15 40 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97251212 97251212 + Silent SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:97251212A>T uc010how.1 + 11 2254 c.2211A>T c.(2209-2211)GGA>GGT p.G737G EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Silent_p.G103G|EPHA6_uc003drs.3_Silent_p.G129G|EPHA6_uc003drr.3_Silent_p.G129G|EPHA6_uc003drt.2_Silent_p.G129G|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 642 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GTGAATTTGGAGAAGTCTGTA 0.383 52 69 --- --- --- --- PASS CPOX 1371 broad.mit.edu 37 3 98309859 98309859 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:98309859C>A uc003dsx.2 - 2 790 c.697G>T c.(697-699)GAT>TAT p.D233Y CPOX_uc011bgz.1_Missense_Mutation_p.D233Y NM_000097 NP_000088 P36551 HEM6_HUMAN coproporphyrinogen oxidase precursor 233 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity 0 GATTTACCATCTTTAGTCTTC 0.358 13 77 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100962939 100962939 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:100962939C>G uc003duq.1 - 13 2439 c.2236G>C c.(2236-2238)GAT>CAT p.D746H IMPG2_uc011bhe.1_Missense_Mutation_p.D609H NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 746 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGTTCCATATCCTCCCTTAGG 0.403 42 59 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121206386 121206386 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:121206386G>A uc003eee.3 - 16 5521 c.5392C>T c.(5392-5394)CCT>TCT p.P1798S POLQ_uc003eed.2_Missense_Mutation_p.P970S NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1798 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TCACTAATAGGGCTGTTGTCT 0.383 DNA_polymerases_(catalytic_subunits) 45 67 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121208373 121208373 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:121208373C>T uc003eee.3 - 16 3534 c.3405G>A c.(3403-3405)GAG>GAA p.E1135E POLQ_uc003eed.2_Silent_p.E307E NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1135 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGACAATATGCTCCACAAAAT 0.353 DNA_polymerases_(catalytic_subunits) 4 114 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123166600 123166600 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:123166600G>T uc003egh.1 - 1 793 c.793C>A c.(793-795)CCG>ACG p.P265T NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 265 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) AGCTGGAGCGGGGGCCGCGCC 0.672 21 25 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130289907 130289907 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:130289907G>T uc010htl.2 + 6 2678 c.2647G>T c.(2647-2649)GGT>TGT p.G883C NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 883 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCAAGCCATGGGTGGCAGTAC 0.532 16 20 --- --- --- --- PASS MRPL3 11222 broad.mit.edu 37 3 131208878 131208878 + Missense_Mutation SNP G A A rs148638602 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:131208878G>A uc003eoh.2 - 5 679 c.515C>T c.(514-516)CCG>CTG p.P172L MRPL3_uc011blo.1_Missense_Mutation_p.P67L|MRPL3_uc011blp.1_Missense_Mutation_p.P199L NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 172 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 TGTCTGTTTCGGCGGCAATCC 0.353 23 32 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147130324 147130324 + Nonsense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:147130324C>A uc003ewe.2 + 2 1721 c.1002C>A c.(1000-1002)TGC>TGA p.C334* NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 334 C2H2-type 4. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTTCAAGTGCGAGTTTGAGG 0.493 20 55 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 159606684 159606684 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:159606684A>G uc003fcs.1 + 6 1336 c.1270A>G c.(1270-1272)ATT>GTT p.I424V SCHIP1_uc003fcq.1_Missense_Mutation_p.I500V|SCHIP1_uc003fcr.1_Missense_Mutation_p.I413V|SCHIP1_uc003fct.1_Missense_Mutation_p.I411V|SCHIP1_uc010hvz.1_Missense_Mutation_p.I384V|SCHIP1_uc003fcu.1_Missense_Mutation_p.I181V|SCHIP1_uc003fcv.1_Missense_Mutation_p.I197V NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 424 Potential. cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) AGACATGACTATTGGGCAGCT 0.378 33 63 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164757675 164757675 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:164757675C>A uc003fei.2 - 19 2306 c.2244G>T c.(2242-2244)CAG>CAT p.Q748H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 748 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAGAGCCTACCTGTTTTAGAA 0.368 HNSCC(35;0.089) 57 86 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164764763 164764763 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:164764763T>A uc003fei.2 - 16 1815 c.1753A>T c.(1753-1755)ATT>TTT p.I585F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 585 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CGGGTAAGAATGAAGCTTCTC 0.323 HNSCC(35;0.089) 18 60 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167248976 167248976 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:167248976C>T uc003fev.1 - 9 1395 c.1089G>A c.(1087-1089)GAG>GAA p.E363E WDR49_uc003feu.1_Silent_p.E188E|WDR49_uc011bpd.1_Silent_p.E427E|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 363 large_intestine(1)|ovary(1)|skin(1) 3 CAGTGTCAATCTCAAAGTTGC 0.423 25 72 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172642054 172642054 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:172642054T>C uc003fin.3 - 8 1440 c.1282A>G c.(1282-1284)ACA>GCA p.T428A NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 428 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTCCCCATTGTCTCCATTTGC 0.338 49 68 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173997368 173997368 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:173997368G>T uc003fio.1 + 6 2000 c.1577G>T c.(1576-1578)TGC>TTC p.C526F NLGN1_uc010hww.1_Missense_Mutation_p.C566F|NLGN1_uc003fip.1_Missense_Mutation_p.C526F NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 543 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) TTATTTCCTTGCAATTTCTCC 0.433 3 51 --- --- --- --- PASS HTR3E 285242 broad.mit.edu 37 3 183822014 183822014 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:183822014G>C uc010hxq.2 + 4 790 c.324G>C c.(322-324)GAG>GAC p.E108D HTR3E_uc003fml.3_Missense_Mutation_p.E93D|HTR3E_uc003fmm.2_Missense_Mutation_p.E123D|HTR3E_uc010hxr.2_Missense_Mutation_p.E108D|HTR3E_uc003fmn.2_Missense_Mutation_p.E108D NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 108 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGGAATGTGAGGGCATCACGA 0.483 3 30 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186947550 186947550 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:186947550A>G uc003frh.1 - 11 1771 c.1439T>C c.(1438-1440)CTA>CCA p.L480P NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 480 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CTCCCTACCTAGAAGGGAGCC 0.552 13 24 --- --- --- --- PASS HRASLS 57110 broad.mit.edu 37 3 192980878 192980878 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr3:192980878G>T uc003fta.2 + 3 664 c.259G>T c.(259-261)GAT>TAT p.D87Y NM_020386 NP_065119 Q9HDD0 HRSL1_HUMAN HRAS-like suppressor 87 0 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) CAATAAATACGATGAAACGTA 0.433 35 81 --- --- --- --- PASS PDE6B 5158 broad.mit.edu 37 4 619461 619461 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:619461C>A uc003gap.2 + 1 99 c.46C>A c.(46-48)CCC>ACC p.P16T PDE6B_uc003gao.3_Missense_Mutation_p.P16T NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 16 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 ggaccagaaccccgattttgc 0.498 7 86 --- --- --- --- PASS GAK 2580 broad.mit.edu 37 4 843832 843832 + Nonsense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:843832C>A uc003gbm.3 - 27 3881 c.3682G>T c.(3682-3684)GAG>TAG p.E1228* GAK_uc003gbn.3_Nonsense_Mutation_p.E1149*|GAK_uc003gbk.3_Nonsense_Mutation_p.E25*|GAK_uc010ibi.2_Nonsense_Mutation_p.E453*|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Nonsense_Mutation_p.E1081* NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1228 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) ATGTTCCGCTCCTTGCCCTCA 0.692 11 11 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5699345 5699345 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:5699345C>A uc003gij.2 - 2 312 c.258G>T c.(256-258)GTG>GTT p.V86V EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.V6V NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 86 integral to membrane large_intestine(3)|ovary(2) 5 GACAGCATTCCACTTTGGGCC 0.398 4 40 --- --- --- --- PASS TADA2B 93624 broad.mit.edu 37 4 7056326 7056326 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:7056326G>C uc003gjw.3 + 2 959 c.808G>C c.(808-810)GAG>CAG p.E270Q TADA2B_uc010idi.2_Missense_Mutation_p.E195Q NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 GTCATGCAAGGAGTTTGATGA 0.517 3 46 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8602955 8602955 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:8602955G>T uc003glm.2 + 3 353 c.227G>T c.(226-228)AGC>ATC p.S76I CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_5'UTR|CPZ_uc003glo.2_Missense_Mutation_p.S65I|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 76 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GTGGAGGCCAGCTCCGAGTAC 0.647 31 37 --- --- --- --- PASS USP17 391627 broad.mit.edu 37 4 9361052 9361052 + RNA SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:9361052T>C uc011bwn.1 + 1 c.944T>C NM_001105662 NP_001099132 ubiquitin specific peptidase 17 0 ACATGACTTCTTGTCTATGTC 0.463 17 192 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46312252 46312252 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:46312252C>T uc003gxc.3 - 5 1170 c.497G>A c.(496-498)TGC>TAC p.C166Y GABRA2_uc010igc.2_Missense_Mutation_p.C166Y|GABRA2_uc011bzc.1_Missense_Mutation_p.C111Y|GABRA2_uc003gxe.2_Missense_Mutation_p.C166Y NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 166 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTGCATTGGGCATTCAGCTTG 0.378 22 91 --- --- --- --- PASS COX7B2 170712 broad.mit.edu 37 4 46737132 46737132 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:46737132G>C uc003gxf.2 - 3 258 c.78C>G c.(76-78)AGC>AGG p.S26R COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 26 Mitochondrial matrix (By similarity). integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 GTTTTACATGGCTATGTCTTG 0.438 6 101 --- --- --- --- PASS COMMD8 54951 broad.mit.edu 37 4 47462294 47462294 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:47462294C>T uc003gxi.2 - 2 97 c.89G>A c.(88-90)GGC>GAC p.G30D NM_017845 NP_060315 Q9NX08 COMD8_HUMAN COMM domain containing 8 30 protein binding 0 ACCACAAATGCCATCAATTAT 0.313 7 50 --- --- --- --- PASS NFXL1 152518 broad.mit.edu 37 4 47857075 47857075 + Splice_Site SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:47857075C>A uc010igh.2 - 20 2598 c.2421_splice c.e20+1 p.K807_splice NFXL1_uc003gxo.2_Splice_Site_p.K132_splice|NFXL1_uc003gxp.2_Splice_Site_p.K807_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.K807_splice NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AAAATATTTACCTTTTTTATT 0.214 21 57 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47939383 47939383 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:47939383G>A uc003gxt.3 - 11 1394 c.1128C>T c.(1126-1128)GTC>GTT p.V376V uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.V445V NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 376 Helical; Name=H5; (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 CCACCACAAAGACATACTCAG 0.428 12 220 --- --- --- --- PASS SCFD2 152579 broad.mit.edu 37 4 54011748 54011748 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:54011748C>A uc003gzu.2 - 5 1447 c.1313G>T c.(1312-1314)AGC>ATC p.S438I SCFD2_uc010igm.2_Missense_Mutation_p.S438I NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 438 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTCCCCAATGCTCTAAAATAA 0.373 16 105 --- --- --- --- PASS INTU 27152 broad.mit.edu 37 4 128605626 128605626 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:128605626A>G uc003ifk.1 + 7 1314 c.1244A>G c.(1243-1245)TAT>TGT p.Y415C INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 415 ovary(1) 1 AAATTTATGTATGGTTCTTTA 0.299 11 50 --- --- --- --- PASS SPOCK3 50859 broad.mit.edu 37 4 167810281 167810281 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:167810281C>A uc003iri.1 - 7 739 c.598G>T c.(598-600)GCA>TCA p.A200S SPOCK3_uc011cjp.1_Nonsense_Mutation_p.G197*|SPOCK3_uc011cjq.1_Missense_Mutation_p.A209S|SPOCK3_uc011cjr.1_Missense_Mutation_p.A80S|SPOCK3_uc003irj.1_Missense_Mutation_p.A197S|SPOCK3_uc011cjs.1_Missense_Mutation_p.A149S|SPOCK3_uc011cjt.1_Missense_Mutation_p.A108S|SPOCK3_uc011cju.1_Missense_Mutation_p.A93S|SPOCK3_uc011cjv.1_Missense_Mutation_p.A102S|SPOCK3_uc003irk.3_Missense_Mutation_p.A197S|SPOCK3_uc011cjw.1_RNA NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 200 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tGTCACTTACCTCTCTTAACA 0.333 14 72 --- --- --- --- PASS MORF4 10934 broad.mit.edu 37 4 174537110 174537110 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:174537110C>T uc011cke.1 - 1 685 c.685G>A c.(685-687)GAG>AAG p.E229K NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) CGATGGTACTCAGGAAGAGCC 0.403 7 42 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183601758 183601758 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr4:183601758A>T uc003ivd.1 + 9 1739 c.1702A>T c.(1702-1704)AGC>TGC p.S568C ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 568 Extracellular (Potential).|EGF-like 2. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCTGTGTTTCAGCGGCTGGAA 0.552 12 72 --- --- --- --- PASS ZDHHC11 79844 broad.mit.edu 37 5 850700 850700 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:850700C>A uc011cma.1 - 1 402 c.18G>T c.(16-18)GGG>GGT p.G6G ZDHHC11_uc003jbj.2_5'Flank NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 6 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AACACTGGCTCCCGGAGCGGG 0.627 22 163 --- --- --- --- PASS FLJ33360 401172 broad.mit.edu 37 5 6312505 6312505 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:6312505T>C uc003jdn.1 - 2 468 c.371A>G c.(370-372)CAC>CGC p.H124R NM_001001702 NP_001001702 SubName: Full=FLJ33360 protein; SubName: Full=cDNA FLJ33360 fis, clone BRACE2005253; 0 AGCAGGGGAGTGCAATGTCCC 0.592 7 14 --- --- --- --- PASS FBXL7 23194 broad.mit.edu 37 5 15936724 15936724 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:15936724A>T uc003jfn.1 + 4 1386 c.905A>T c.(904-906)CAC>CTC p.H302L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 302 LRR 5. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CAGCTCACCCACCTCTACCTG 0.642 6 70 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747089 19747089 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:19747089C>A uc003jgc.2 - 3 862 c.485G>T c.(484-486)GGA>GTA p.G162V CDH18_uc003jgd.2_Missense_Mutation_p.G162V|CDH18_uc011cnm.1_Missense_Mutation_p.G162V NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 162 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) AATGTATGGTCCATCTGTGAA 0.348 59 127 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747090 19747090 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:19747090C>T uc003jgc.2 - 3 861 c.484G>A c.(484-486)GGA>AGA p.G162R CDH18_uc003jgd.2_Missense_Mutation_p.G162R|CDH18_uc011cnm.1_Missense_Mutation_p.G162R NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 162 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATGTATGGTCCATCTGTGAAT 0.348 59 128 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23527405 23527405 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:23527405C>A uc003jgo.2 + 11 2390 c.2208C>A c.(2206-2208)CTC>CTA p.L736L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 736 C2H2-type 9. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CACACCTCCTCAGACACCAGA 0.587 HNSCC(3;0.000094) 67 77 --- --- --- --- PASS C7 730 broad.mit.edu 37 5 40955528 40955528 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:40955528G>T uc003jmh.2 + 10 1247 c.1133G>T c.(1132-1134)AGA>ATA p.R378I C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 378 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) CCGTTCATCAGAGGGGGAGGT 0.418 92 189 --- --- --- --- PASS TRIM23 373 broad.mit.edu 37 5 64913946 64913946 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:64913946G>A uc003jty.2 - 2 304 c.218C>T c.(217-219)CCA>CTA p.P73L TRIM23_uc003jtw.2_Missense_Mutation_p.P73L|TRIM23_uc003jtx.2_Missense_Mutation_p.P73L NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 73 RING-type; degenerate. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TCGATCAAATGGGCAACGGAT 0.418 19 28 --- --- --- --- PASS MARVELD2 153562 broad.mit.edu 37 5 68728477 68728477 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:68728477C>A uc003jwq.2 + 4 1365 c.1306C>A c.(1306-1308)CCT>ACT p.P436T MARVELD2_uc010ixf.2_Missense_Mutation_p.P424T|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 436 Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) CATTCCTAAACCTATCGTGAT 0.458 3 68 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90041472 90041472 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:90041472G>A uc003kju.2 + 52 10930 c.10834G>A c.(10834-10836)GAT>AAT p.D3612N GPR98_uc003kjt.2_Missense_Mutation_p.D1318N|GPR98_uc003kjv.2_Missense_Mutation_p.D1212N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3612 Calx-beta 23.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATCCTTGATGATACAGTTCC 0.348 21 64 --- --- --- --- PASS LOX 4015 broad.mit.edu 37 5 121412588 121412588 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:121412588C>A uc003ksu.2 - 2 1115 c.740G>T c.(739-741)AGT>ATT p.S247I LOX_uc010jcp.2_5'Flank|LOX_uc010jcq.2_5'Flank|LOX_uc011cwk.1_Missense_Mutation_p.S17I|LOX_uc010jcr.2_Intron NM_002317 NP_002308 P28300 LYOX_HUMAN lysyl oxidase preproprotein 247 Lysyl-oxidase like. protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity lung(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) CAGCCCGTACCTGGCCAGACA 0.602 OREG0016741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 59 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127624178 127624178 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:127624178A>T uc003kuu.2 - 53 7148 c.6709T>A c.(6709-6711)TGC>AGC p.C2237S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2237 EGF-like 37; 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) TTGCAATTGCATTCAAAACTC 0.378 5 53 --- --- --- --- PASS GDF9 2661 broad.mit.edu 37 5 132200015 132200015 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:132200015C>A uc003kxz.1 - 1 463 c.211G>T c.(211-213)GTT>TTT p.V71F GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 71 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCTCGCCCAACAGATAGAACT 0.507 38 69 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140261956 140261956 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:140261956G>A uc003lif.2 + 1 103 c.103G>A c.(103-105)GTC>ATC p.V35I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V35I|PCDHA13_uc003lid.2_Missense_Mutation_p.V35I NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 35 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTACTCCGTCCCCGAGGA 0.667 54 90 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140735556 140735556 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:140735556C>T uc003ljq.1 + 1 789 c.789C>T c.(787-789)ACC>ACT p.T263T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.T263T NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 263 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTACTCACCGTAAAAGCCA 0.458 8 41 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140778312 140778312 + Missense_Mutation SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:140778312T>G uc003lkf.1 + 1 618 c.618T>G c.(616-618)AGT>AGG p.S206R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.S206R NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 206 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAACAGAGTTACCATCGTT 0.493 15 130 --- --- --- --- PASS PPP2R2B 5521 broad.mit.edu 37 5 145979881 145979881 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:145979881C>A uc003loe.2 - 7 1458 c.933G>T c.(931-933)ATG>ATT p.M311I PPP2R2B_uc010jgm.2_Missense_Mutation_p.M300I|PPP2R2B_uc003log.3_Missense_Mutation_p.M311I|PPP2R2B_uc003lof.3_Missense_Mutation_p.M311I|PPP2R2B_uc003loi.3_Missense_Mutation_p.M314I|PPP2R2B_uc003loh.3_Missense_Mutation_p.M311I|PPP2R2B_uc003loj.3_Missense_Mutation_p.M291I|PPP2R2B_uc003lok.3_Missense_Mutation_p.M300I|PPP2R2B_uc011dbu.1_Missense_Mutation_p.M317I|PPP2R2B_uc011dbv.1_Missense_Mutation_p.M369I NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 311 WD 5. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCGGTTTTCCATGTTGAGAT 0.473 51 84 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147486684 147486684 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:147486684G>T uc003lox.2 + 17 1637 c.1564G>T c.(1564-1566)GGC>TGC p.G522C SPINK5_uc010jgs.1_Missense_Mutation_p.G494C|SPINK5_uc010jgr.2_Missense_Mutation_p.G503C|SPINK5_uc003low.2_Missense_Mutation_p.G522C|SPINK5_uc003loy.2_Missense_Mutation_p.G522C NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 522 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCCAGATGGCAAAATGCA 0.488 31 124 --- --- --- --- PASS CSF1R 1436 broad.mit.edu 37 5 149439324 149439324 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:149439324G>T uc003lrl.2 - 14 2266 c.2071C>A c.(2071-2073)CAG>AAG p.Q691K CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_Intron|CSF1R_uc003lrm.2_Missense_Mutation_p.Q691K NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 691 Protein kinase.|Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) TCGGGGTCCTGGCCGGGGCTC 0.582 37 49 --- --- --- --- PASS TCOF1 6949 broad.mit.edu 37 5 149772327 149772327 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:149772327G>A uc003lry.2 + 22 3682 c.3574G>A c.(3574-3576)GAG>AAG p.E1192K TCOF1_uc011dch.1_Missense_Mutation_p.E1155K|TCOF1_uc003lrz.2_Missense_Mutation_p.E1154K|TCOF1_uc003lrx.2_Missense_Mutation_p.E1116K|TCOF1_uc003lsa.2_Missense_Mutation_p.E1115K NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1192 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAGTCCAGCGAGGATGATGT 0.637 15 25 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156590666 156590666 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:156590666C>G uc003lwn.2 - 2 710 c.610G>C c.(610-612)GCA>CCA p.A204P NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 204 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAGCTCTGCAGCCTATACC 0.488 26 65 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156915440 156915440 + Missense_Mutation SNP G T T rs150381064 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:156915440G>T uc003lwz.2 - 21 2447 c.2383C>A c.(2383-2385)CCA>ACA p.P795T ADAM19_uc003lww.1_Missense_Mutation_p.P528T|ADAM19_uc003lwy.2_Missense_Mutation_p.P394T|ADAM19_uc011ddr.1_Missense_Mutation_p.P726T NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 795 Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGATAATCTGGAGGGGGCCGG 0.602 26 46 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167589657 167589657 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:167589657C>A uc010jjd.2 + 13 2437 c.2437C>A c.(2437-2439)CTG>ATG p.L813M ODZ2_uc003lzr.3_Missense_Mutation_p.L590M|ODZ2_uc003lzt.3_Missense_Mutation_p.L186M|ODZ2_uc010jje.2_Missense_Mutation_p.L84M|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GAGATGCACACTGGGTCAGAA 0.572 7 30 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169461446 169461446 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:169461446G>T uc003maf.2 + 35 3591 c.3511G>T c.(3511-3513)GTG>TTG p.V1171L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.V663L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1171 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCCAAGTCGGTGGAGAACTT 0.572 12 45 --- --- --- --- PASS NKX2-5 1482 broad.mit.edu 37 5 172659794 172659794 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:172659794G>T uc003mcm.1 - 2 929 c.753C>A c.(751-753)AAC>AAA p.N251K NM_004387 NP_004378 P52952 NKX25_HUMAN NK2 transcription factor related, locus 5 251 Ala/Pro-rich. adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding central_nervous_system(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CGGGGTAGGCGTTATAACCGT 0.706 5 15 --- --- --- --- PASS LMAN2 10960 broad.mit.edu 37 5 176764785 176764785 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:176764785C>T uc003mge.2 - 4 672 c.435G>A c.(433-435)GGG>GGA p.G145G LMAN2_uc003mgd.2_Silent_p.G145G NM_006816 NP_006807 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 precursor 145 Lumenal (Potential).|L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAACACAGGCCCTAGAATTA 0.522 3 31 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178392666 178392666 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr5:178392666T>A uc003mjo.1 + 5 1532 c.1261T>A c.(1261-1263)TTT>ATT p.F421I ZNF454_uc010jkz.1_Missense_Mutation_p.F421I NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 421 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TGAGAAAGCCTTTCGGGACCA 0.428 26 18 --- --- --- --- PASS C6orf201 404220 broad.mit.edu 37 6 4099236 4099236 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:4099236G>A uc003mwa.3 + 3 856 c.88G>A c.(88-90)GAG>AAG p.E30K C6orf201_uc003mvz.3_RNA|C6orf201_uc011dhw.1_Missense_Mutation_p.E30K|C6orf201_uc003mwb.3_RNA NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN hypothetical protein LOC404220 30 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) ATTACCAGGTGAGAATCCTGA 0.403 37 38 --- --- --- --- PASS PECI 10455 broad.mit.edu 37 6 4131020 4131020 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:4131020G>T uc003mwf.2 - 3 330 c.293C>A c.(292-294)GCC>GAC p.A98D PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.A68D|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 98 ACB. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) GCTGCCAAGGGCATTCCATGC 0.453 78 118 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15496845 15496845 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:15496845G>T uc003nbj.2 + 7 1633 c.1389G>T c.(1387-1389)GCG>GCT p.A463A JARID2_uc011diu.1_Silent_p.A327A|JARID2_uc011div.1_Silent_p.A291A|JARID2_uc011diw.1_Silent_p.A425A NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 463 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGAAAGGGGCGGCTGGCCCCG 0.667 15 21 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28543242 28543242 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:28543242G>A uc003nlo.2 - 3 1858 c.1240C>T c.(1240-1242)CCT>TCT p.P414S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 414 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 ACTTCCGTAGGCCTTTTAGAC 0.383 13 63 --- --- --- --- PASS OR2J3 442186 broad.mit.edu 37 6 29080239 29080239 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:29080239C>T uc011dll.1 + 1 572 c.572C>T c.(571-573)TCG>TTG p.S191L NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGCGATTATCGTGTGTTGAT 0.458 11 108 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29365010 29365010 + Silent SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:29365010T>C uc003nmf.3 + 1 595 c.534T>C c.(532-534)GAT>GAC p.D178D NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCTCTGTGATATTAAGCCAT 0.478 20 191 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29641277 29641277 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:29641277C>A uc011dlw.1 - 4 762 c.611G>T c.(610-612)AGC>ATC p.S204I ZFP57_uc003nnl.3_Missense_Mutation_p.S184I NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 120 C2H2-type 2. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 CTGACTGCAGCTGTTAGTCAG 0.537 13 123 --- --- --- --- PASS MUC21 394263 broad.mit.edu 37 6 30954918 30954918 + Silent SNP A G G rs139721236 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:30954918A>G uc003nsh.2 + 2 1217 c.966A>G c.(964-966)ACA>ACG p.T322T MUC21_uc003nsi.1_RNA NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN mucin 21 precursor 322 Ser-rich.|20.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|skin(1) 2 ACTCCAGCACAACCTCCAGTG 0.617 5 121 --- --- --- --- PASS C6orf15 29113 broad.mit.edu 37 6 31079265 31079265 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:31079265C>A uc003nsk.1 - 2 871 c.871G>T c.(871-873)GGT>TGT p.G291C NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 291 Pro-rich. 0 TTATTGATACCTGGGTATAGA 0.527 36 85 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34826796 34826796 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:34826796C>A uc003oju.3 + 14 2897 c.2663C>A c.(2662-2664)CCC>CAC p.P888H UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 888 ovary(3) 3 CATCCTGCACCCGGTGCTGTC 0.522 15 78 --- --- --- --- PASS TREM1 54210 broad.mit.edu 37 6 41243864 41243864 + Nonstop_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:41243864T>A uc003oqf.1 - 4 768 c.704A>T c.(703-705)TAG>TTG p.*235L TREM1_uc003oqg.1_3'UTR NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 235 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) TTCGTGGGCCTAGGGTACAAA 0.527 7 62 --- --- --- --- PASS KLC4 89953 broad.mit.edu 37 6 43040989 43040989 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:43040989G>T uc003otv.1 + 14 1735 c.1658G>T c.(1657-1659)GGC>GTC p.G553V KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.G476V|KLC4_uc003otw.1_Missense_Mutation_p.G571V|KLC4_uc003otx.1_Missense_Mutation_p.G553V|KLC4_uc003oty.1_Missense_Mutation_p.G553V|KLC4_uc003otz.1_Missense_Mutation_p.G553V NM_201521 NP_958929 Q9NSK0 KLC4_HUMAN kinesin-like 8 isoform a 553 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding skin(3)|ovary(1) 4 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CAGAGGAGTGGCTCTCTTGGC 0.557 14 27 --- --- --- --- PASS TMEM63B 55362 broad.mit.edu 37 6 44122607 44122607 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:44122607A>G uc003owr.2 + 24 2550 c.2486A>G c.(2485-2487)GAG>GGG p.E829G TMEM63B_uc003ows.2_Missense_Mutation_p.E732G|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 829 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ATAGAGAATGAGATTCACCAG 0.562 16 42 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47678598 47678598 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:47678598C>A uc003oza.1 + 4 534 c.276C>A c.(274-276)AGC>AGA p.S92R GPR115_uc003oyz.1_Missense_Mutation_p.S149R|GPR115_uc003ozb.1_Missense_Mutation_p.S90R NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 92 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 CATGTACAAGCCTTTCTGTGG 0.393 28 37 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47846323 47846323 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:47846323G>T uc011dwm.1 - 3 2291 c.2206C>A c.(2206-2208)CAA>AAA p.Q736K C6orf138_uc011dwn.1_Missense_Mutation_p.Q500K NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 753 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CCATGGTCTTGCAAGGAGCTT 0.428 3 53 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70981368 70981368 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:70981368A>G uc003pfg.3 - 14 1292 c.1133T>C c.(1132-1134)GTA>GCA p.V378A COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.V135A NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 378 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 AACAGGTCCTACACGGCCAAG 0.408 10 38 --- --- --- --- PASS DSE 29940 broad.mit.edu 37 6 116756865 116756865 + Nonsense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:116756865A>T uc003pws.2 + 6 1428 c.1234A>T c.(1234-1236)AGA>TGA p.R412* DSE_uc011ebg.1_Nonsense_Mutation_p.R431*|DSE_uc003pwt.2_Nonsense_Mutation_p.R412*|DSE_uc003pwu.2_Nonsense_Mutation_p.R79* NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 412 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGAAATCAATAGATCTTTCCT 0.433 7 67 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123892207 123892207 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:123892207C>T uc003pzj.1 - 2 115 c.93G>A c.(91-93)GTG>GTA p.V31V TRDN_uc003pzk.1_Silent_p.V31V|TRDN_uc003pzl.1_Silent_p.V31V|TRDN_uc010ken.2_Silent_p.V31V|TRDN_uc010keo.1_Silent_p.V31V NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 31 Cytoplasmic. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) TCCTCTTCAGCACTTTTCCGG 0.463 26 66 --- --- --- --- PASS C6orf58 352999 broad.mit.edu 37 6 127912763 127912763 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:127912763C>A uc003qbh.2 + 6 1001 c.989C>A c.(988-990)TCC>TAC p.S330Y NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 330 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GGAAATAACTCCTGAAACATT 0.269 8 22 --- --- --- --- PASS C6orf58 352999 broad.mit.edu 37 6 127912764 127912764 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:127912764C>A uc003qbh.2 + 6 1002 c.990C>A c.(988-990)TCC>TCA p.S330S NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 330 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GAAATAACTCCTGAAACATTT 0.269 9 21 --- --- --- --- PASS TMEM200A 114801 broad.mit.edu 37 6 130761578 130761578 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:130761578C>A uc003qca.2 + 3 882 c.11C>A c.(10-12)ACT>AAT p.T4N TMEM200A_uc010kfh.2_Missense_Mutation_p.T4N|TMEM200A_uc010kfi.2_Missense_Mutation_p.T4N|TMEM200A_uc003qcb.2_Missense_Mutation_p.T4N NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 4 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ATGATAGCAACTGGTGGAGTG 0.448 38 79 --- --- --- --- PASS ARG1 383 broad.mit.edu 37 6 131900371 131900371 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:131900371T>A uc003qcp.1 + 3 309 c.251T>A c.(250-252)GTG>GAG p.V84E ARG1_uc003qco.1_Missense_Mutation_p.V84E|ARG1_uc010kfm.1_Missense_Mutation_p.V92E|MED23_uc003qcq.2_Intron NM_000045 NP_000036 P05089 ARGI1_HUMAN arginase 1 84 arginine catabolic process|urea cycle cytosol arginase activity ovary(1) 1 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) GCTGGCAAGGTGGCAGAAGTC 0.512 15 42 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891689 132891689 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:132891689G>T uc011eck.1 + 1 229 c.229G>T c.(229-231)GCT>TCT p.A77S NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 77 Helical; Name=2; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCTGGCCTGCGCTGATTTCTT 0.512 41 99 --- --- --- --- PASS NMBR 4829 broad.mit.edu 37 6 142409428 142409428 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:142409428T>A uc003qiu.2 - 1 509 c.368A>T c.(367-369)CAG>CTG p.Q123L NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 123 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GGAAGTGAGCTGGATGACAGG 0.587 14 24 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165848811 165848811 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr6:165848811G>T uc003qun.2 - 7 662 c.421C>A c.(421-423)CCT>ACT p.P141T PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.P71T|PDE10A_uc003quo.2_Missense_Mutation_p.P151T NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 141 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGCCCAGCAGGGATGAGGCGG 0.493 13 52 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7557459 7557459 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:7557459G>C uc003src.1 - 7 940 c.823C>G c.(823-825)CAA>GAA p.Q275E COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.2_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 275 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCTCCTTTTTGAGCGTTGCCC 0.398 39 237 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21940678 21940678 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:21940678C>G uc003svc.2 + 83 13409 c.13378C>G c.(13378-13380)CTG>GTG p.L4460V CDCA7L_uc003sve.3_3'UTR|CDCA7L_uc010kuk.2_3'UTR|CDCA7L_uc010kul.2_3'UTR|CDCA7L_uc003svf.3_3'UTR NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4460 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 TCTCAAGGAGCTGGCATGCCC 0.537 Kartagener_syndrome 46 212 --- --- --- --- PASS KLHL7 55975 broad.mit.edu 37 7 23205373 23205373 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:23205373C>T uc003svs.3 + 8 1286 c.993C>T c.(991-993)TGC>TGT p.C331C KLHL7_uc003svr.3_Silent_p.C309C|KLHL7_uc011jys.1_Silent_p.C255C|KLHL7_uc011jyt.1_Silent_p.C106C|KLHL7_uc003svt.2_Silent_p.C283C|KLHL7_uc011jyv.1_Silent_p.C106C NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 331 Kelch 1. Golgi apparatus|nucleolus|plasma membrane 0 ATGCAGCATGCGTGTTTTGGG 0.423 28 63 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378677 31378677 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:31378677T>A uc003tch.2 - 2 559 c.206A>T c.(205-207)GAT>GTT p.D69V NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 69 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 CCCAttttcatcttcctcttc 0.358 45 215 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48314352 48314352 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:48314352A>G uc003toq.2 + 17 5114 c.5089A>G c.(5089-5091)AGT>GGT p.S1697G ABCA13_uc010kyr.2_Missense_Mutation_p.S1200G NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1697 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAAGAATATCAGTAGTGTGGG 0.388 59 110 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103840 53103840 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:53103840G>A uc003tpz.2 + 1 492 c.476G>A c.(475-477)CGC>CAC p.R159H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 159 0 CAGAGAgcccgccccgcaggc 0.592 12 18 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187747 57187747 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:57187747G>T uc010kzo.2 - 5 1646 c.1375C>A c.(1375-1377)CAT>AAT p.H459N NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 459 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TCTCCAGTATGAATTCTCTTG 0.428 36 117 --- --- --- --- PASS ZNF680 340252 broad.mit.edu 37 7 63982404 63982404 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:63982404C>A uc003tta.2 - 4 901 c.728G>T c.(727-729)TGT>TTT p.C243F ZNF680_uc010kzr.2_Missense_Mutation_p.C170F NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 243 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) GGCTTTGCCACATTCCTCACA 0.363 12 23 --- --- --- --- PASS CCL26 10344 broad.mit.edu 37 7 75401209 75401209 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:75401209C>A uc003udt.1 - 3 294 c.186G>T c.(184-186)GTG>GTT p.V62V NM_006072 NP_006063 Q9Y258 CCL26_HUMAN chemokine (C-C motif) ligand 26 precursor 62 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 ATACTCACATCACAGCCCGCT 0.567 16 67 --- --- --- --- PASS POR 5447 broad.mit.edu 37 7 75614954 75614954 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:75614954G>A uc003udy.2 + 13 1538 c.1456G>A c.(1456-1458)GGC>AGC p.G486S POR_uc011kgc.1_Missense_Mutation_p.G294S|POR_uc011kgd.1_Missense_Mutation_p.G385S|POR_uc011kge.1_Missense_Mutation_p.G224S|POR_uc003uea.2_5'UTR NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 483 FAD-binding FR-type. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) GACCAAGGCTGGCCGCATCAA 0.677 4 17 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94047830 94047830 + Missense_Mutation SNP G T T rs72658154 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:94047830G>T uc003ung.1 + 33 2462 c.1991G>T c.(1990-1992)GGT>GTT p.G664V COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_RNA NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 664 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCTCAGAGGTGAAATTGGT 0.333 HNSCC(75;0.22) 17 55 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98552895 98552895 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:98552895C>T uc003upp.2 + 40 6093 c.5884C>T c.(5884-5886)CAC>TAC p.H1962Y TRRAP_uc011kis.1_Missense_Mutation_p.H1944Y|TRRAP_uc003upr.2_Missense_Mutation_p.H1661Y NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1962 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCAGCTGGTCCACATTCTGCA 0.617 11 24 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99798772 99798772 + Silent SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:99798772T>G uc003utx.1 + 20 2276 c.2121T>G c.(2119-2121)TCT>TCG p.S707S STAG3_uc010lgs.1_Silent_p.S495S|STAG3_uc011kjk.1_Silent_p.S649S|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 707 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AACGCCTCTCTGCCTTCTACA 0.478 21 75 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100459495 100459495 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:100459495G>T uc003uwp.2 + 12 1815 c.1673G>T c.(1672-1674)GGG>GTG p.G558V SLC12A9_uc003uwq.2_Missense_Mutation_p.G469V|SLC12A9_uc011kki.1_Missense_Mutation_p.G89V|SLC12A9_uc003uwr.2_Missense_Mutation_p.G294V|SLC12A9_uc003uws.2_Missense_Mutation_p.G89V|SLC12A9_uc003uwt.2_Missense_Mutation_p.G294V|SLC12A9_uc003uwv.2_Missense_Mutation_p.G89V NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 558 Extracellular (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) AAGAAGGGGGGGCTGTATGTG 0.627 9 35 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173297 126173297 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:126173297C>A uc003vlr.2 - 8 2450 c.2139G>T c.(2137-2139)TGG>TGT p.W713C GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.W713C|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 713 Helical; Name=4; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCACAACAAACCAGACAAACA 0.517 HNSCC(24;0.065) 10 45 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127253856 127253856 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:127253856C>A uc010lld.1 - 4 698 c.492G>T c.(490-492)CGG>CGT p.R164R PAX4_uc003vmf.2_Silent_p.R162R|PAX4_uc003vmg.1_Silent_p.R164R|PAX4_uc003vmh.2_Silent_p.R162R NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 172 Homeobox. R -> W (in MODY9; the mutant sequence represses the activity of the insulin and glucagon promoters by only 35% compared to 50% and 57% respectively with wild- type sequence). cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TAGTCCGATTCCGGTGGCCGG 0.582 25 79 --- --- --- --- PASS TSGA14 95681 broad.mit.edu 37 7 130038840 130038840 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:130038840C>A uc003vpz.2 - 11 1061 c.1014G>T c.(1012-1014)AAG>AAT p.K338N TSGA14_uc003vpy.2_Missense_Mutation_p.K100N|TSGA14_uc010lmf.2_Missense_Mutation_p.K135N|TSGA14_uc003vqa.2_Missense_Mutation_p.K266N|TSGA14_uc011kpg.1_Missense_Mutation_p.K250N NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 338 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) CACCAGGCACCTTGGACTCTC 0.592 63 221 --- --- --- --- PASS TTC26 79989 broad.mit.edu 37 7 138862969 138862969 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:138862969C>T uc003vus.2 + 13 1193 c.1079C>T c.(1078-1080)CCA>CTA p.P360L TTC26_uc011kqn.1_Missense_Mutation_p.P360L|TTC26_uc011kqo.1_Missense_Mutation_p.P329L|TTC26_uc011kqp.1_Missense_Mutation_p.P255L|TTC26_uc003vut.2_Missense_Mutation_p.P220L|TTC26_uc011kqq.1_Missense_Mutation_p.P229L NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 360 binding ovary(1) 1 GATACAATACCAGGGAGGCAG 0.348 13 45 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142724074 142724074 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:142724074C>A uc003wcc.1 - 1 146 c.146G>T c.(145-147)TGT>TTT p.C49F NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) TTTATCCACACAGACAATCAC 0.443 22 145 --- --- --- --- PASS TPK1 27010 broad.mit.edu 37 7 144345919 144345919 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:144345919C>A uc003weq.2 - 5 342 c.239G>T c.(238-240)AGA>ATA p.R80I TPK1_uc003weo.2_Missense_Mutation_p.R75I|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.R80I|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 80 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) ATAGTATTCTCTGACTTCAGG 0.308 38 185 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146825794 146825794 + Nonsense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:146825794G>T uc003weu.1 + 7 1465 c.949G>T c.(949-951)GGA>TGA p.G317* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 317 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GATAACCTTTGGAGGCATCCC 0.378 HNSCC(39;0.1) 17 98 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146825795 146825795 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:146825795G>T uc003weu.1 + 7 1466 c.950G>T c.(949-951)GGA>GTA p.G317V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 317 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATAACCTTTGGAGGCATCCCT 0.378 HNSCC(39;0.1) 18 98 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146829519 146829519 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:146829519G>T uc003weu.1 + 8 1782 c.1266G>T c.(1264-1266)GTG>GTT p.V422V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 422 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGGCAATGTGGAGATTGACC 0.458 HNSCC(39;0.1) 14 67 --- --- --- --- PASS C7orf33 202865 broad.mit.edu 37 7 148288214 148288214 + Missense_Mutation SNP G A A rs79069436 by1000genomes TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:148288214G>A uc003wew.2 + 1 558 c.197G>A c.(196-198)AGA>AAA p.R66K NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 66 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCCACGGGAAGACATAAGGTA 0.458 29 100 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154561142 154561142 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr7:154561142C>A uc003wlk.2 + 9 1028 c.899C>A c.(898-900)ACA>AAA p.T300K DPP6_uc003wli.2_Missense_Mutation_p.T236K|DPP6_uc003wlm.2_Missense_Mutation_p.T238K|DPP6_uc011kvq.1_Missense_Mutation_p.T193K NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 300 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATTTTGAAGACACACATCGCA 0.522 14 79 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10466484 10466484 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:10466484C>A uc003wtc.2 - 4 5353 c.5124G>T c.(5122-5124)GTG>GTT p.V1708V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1708 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGCCAGGGGCCACCTCTGCTG 0.647 33 84 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10473979 10473979 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:10473979C>A uc003wtc.2 - 3 957 c.728G>T c.(727-729)GGG>GTG p.G243V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 243 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGAAGTCAGCCCAGATAAAGT 0.527 12 72 --- --- --- --- PASS NKX6-3 157848 broad.mit.edu 37 8 41504001 41504001 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:41504001G>A uc003xoa.2 - 2 379 c.375C>T c.(373-375)TTC>TTT p.F125F NKX6-3_uc010lxa.1_Silent_p.F125F NM_152568 NP_689781 A6NJ46 NKX63_HUMAN NK6 homeobox 3 255 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) 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) TGAGCACCGAGAAGGCGGCGC 0.701 4 22 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69104587 69104587 + Missense_Mutation SNP C A A rs137974526 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:69104587C>A uc003xxv.1 + 37 4458 c.4431C>A c.(4429-4431)AAC>AAA p.N1477K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1477 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 GGCCTCTCAACGCTTTGGATG 0.433 10 55 --- --- --- --- PASS SLCO5A1 81796 broad.mit.edu 37 8 70744061 70744061 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:70744061G>T uc003xyl.2 - 2 1555 c.848C>A c.(847-849)ACC>AAC p.T283N SLCO5A1_uc010lzb.2_Missense_Mutation_p.T283N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T283N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.T283N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 283 Helical; Name=4; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGGTCCCAGGGTATAAATAGG 0.453 19 137 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72964988 72964988 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:72964988G>C uc003xza.2 - 14 1832 c.1657C>G c.(1657-1659)CAC>GAC p.H553D uc011lff.1_RNA|uc003xyy.2_RNA NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 553 Cytoplasmic (Potential).|ANK 14. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GCAGCAAAGTGAAGTGCAGTG 0.458 92 121 --- --- --- --- PASS PI15 51050 broad.mit.edu 37 8 75757390 75757390 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:75757390G>C uc003yal.2 + 4 599 c.420G>C c.(418-420)AAG>AAC p.K140N uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.K140N NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 140 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) AGTTGGTCAAGCCATGGTATG 0.393 24 152 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77616340 77616340 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:77616340C>A uc003yav.2 + 2 404 c.17C>A c.(16-18)TCC>TAC p.S6Y ZFHX4_uc003yat.1_Missense_Mutation_p.S6Y|ZFHX4_uc003yau.1_Missense_Mutation_p.S6Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S6Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 6 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) ACCTGTGACTCCCCTCCTATC 0.458 HNSCC(33;0.089) 12 38 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767118 77767118 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:77767118A>G uc003yav.2 + 10 8213 c.7826A>G c.(7825-7827)CAG>CGG p.Q2609R ZFHX4_uc003yau.1_Missense_Mutation_p.Q2654R|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2609R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2609 Homeobox 3. 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) GTCTGGTTCCAGAATACACGA 0.502 HNSCC(33;0.089) 23 129 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775458 77775458 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:77775458C>A uc003yav.2 + 11 9760 c.9373C>A c.(9373-9375)CCT>ACT p.P3125T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3121 Pro-rich. 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) acctcctcctcctcctcctcc 0.363 HNSCC(33;0.089) 4 12 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775459 77775459 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:77775459C>A uc003yav.2 + 11 9761 c.9374C>A c.(9373-9375)CCT>CAT p.P3125H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3121 Pro-rich. 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) cctcctcctcctcctcctcct 0.363 HNSCC(33;0.089) 4 14 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87638275 87638275 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:87638275G>C uc003ydx.2 - 13 1560 c.1514C>G c.(1513-1515)ACG>AGG p.T505R CNGB3_uc010maj.2_Missense_Mutation_p.T367R NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 505 Helical; Name=H6; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TAACTGGACCGTAGTTGGTAG 0.383 25 58 --- --- --- --- PASS POP1 10940 broad.mit.edu 37 8 99168595 99168595 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:99168595G>T uc003yij.3 + 15 2475 c.2375G>T c.(2374-2376)AGT>ATT p.S792I POP1_uc011lgv.1_Missense_Mutation_p.S792I|POP1_uc003yik.2_Missense_Mutation_p.S792I NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 792 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CAGGAGGCCAGTGAAAACCAT 0.507 72 117 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105105738 105105738 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:105105738G>A uc003yls.2 + 21 3002 c.2761G>A c.(2761-2763)GTT>ATT p.V921I RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.V994I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 375 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) GGCAGATAATGTTTCTACTAA 0.408 HNSCC(12;0.0054) 11 256 --- --- --- --- PASS ANGPT1 284 broad.mit.edu 37 8 108334131 108334131 + Silent SNP T C C rs138395811 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:108334131T>C uc003ymn.2 - 4 1269 c.801A>G c.(799-801)AAA>AAG p.K267K ANGPT1_uc011lhv.1_Silent_p.K67K|ANGPT1_uc003ymo.2_Silent_p.K267K|ANGPT1_uc003ymp.3_Silent_p.K67K NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 267 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TACCACCTTCTTTAGTGCAAA 0.378 69 71 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110376778 110376778 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:110376778G>A uc003yne.2 + 2 180 c.76G>A c.(76-78)GGC>AGC p.G26S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 26 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTTTCAGATGGCTCTCAAAT 0.348 HNSCC(38;0.096) 3 28 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110986306 110986306 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:110986306G>A uc003ynr.3 - 1 654 c.312C>T c.(310-312)GAC>GAT p.D104D KCNV1_uc010mcw.2_Silent_p.D104D NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 104 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GCGAGCTGCGGTCGAAGAAGT 0.662 16 23 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131136348 131136348 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:131136348C>A uc003yta.1 - 17 1546 c.1518G>T c.(1516-1518)CTG>CTT p.L506L ASAP1_uc003ysz.1_Silent_p.L317L|ASAP1_uc011liw.1_Silent_p.L499L NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 506 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CATTCTTGGCCAGCTGTAACA 0.328 60 82 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133961121 133961121 + Silent SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:133961121T>G uc003ytw.2 + 27 5375 c.5334T>G c.(5332-5334)CCT>CCG p.P1778P TG_uc010mdw.2_Silent_p.P537P|TG_uc011ljb.1_Silent_p.P147P NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1778 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTACATGTCCTGGTGTGACAT 0.483 17 173 --- --- --- --- PASS SPATC1 375686 broad.mit.edu 37 8 145094893 145094893 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:145094893G>A uc011lkw.1 + 2 397 c.295G>A c.(295-297)GAG>AAG p.E99K SPATC1_uc011lkx.1_Missense_Mutation_p.E99K NM_198572 NP_940974 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 99 ovary(1)|central_nervous_system(1) 2 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCCTGGCCGAGATGCTAAC 0.637 7 124 --- --- --- --- PASS CPSF1 29894 broad.mit.edu 37 8 145624025 145624025 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:145624025C>G uc003zcj.2 - 18 1717 c.1642G>C c.(1642-1644)GAC>CAC p.D548H NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 548 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) TTGGGATTGTCCTCCTGTCAG 0.652 4 147 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18574088 18574088 + Nonsense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:18574088A>T uc003zne.3 + 4 425 c.298A>T c.(298-300)AAG>TAG p.K100* ADAMTSL1_uc003znb.2_Nonsense_Mutation_p.K100*|ADAMTSL1_uc003znc.3_Nonsense_Mutation_p.K100* NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 100 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TAATGATGTCAAGCACCATGG 0.473 40 86 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:20414346G>A uc003zoe.2 - 5 757 c.498C>T c.(496-498)AGC>AGT p.S166S MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A128V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.134 T MLL ALL 4 32 --- --- --- --- PASS GALNT12 79695 broad.mit.edu 37 9 101585705 101585705 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:101585705G>T uc004ayz.2 + 2 539 c.539G>T c.(538-540)AGA>ATA p.R180I NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN N-acetylgalactosaminyltransferase 12 180 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(62;0.0559) TACAGTGATAGAGGTGAGTCC 0.537 31 38 --- --- --- --- PASS OR13C8 138802 broad.mit.edu 37 9 107332380 107332380 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:107332380T>A uc011lvo.1 + 1 932 c.932T>A c.(931-933)CTG>CAG p.L311Q NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAAAACATACTGTGTAGGAAA 0.358 38 33 --- --- --- --- PASS IKBKAP 8518 broad.mit.edu 37 9 111679827 111679827 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:111679827C>A uc004bdm.3 - 9 1384 c.864G>T c.(862-864)AAG>AAT p.K288N IKBKAP_uc004bdl.2_Translation_Start_Site|IKBKAP_uc011lwc.1_Missense_Mutation_p.K174N|IKBKAP_uc010mtq.2_Translation_Start_Site NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 288 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 AGGCACTTACCTTAACCTCAT 0.328 24 91 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120476737 120476737 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:120476737C>T uc004bjz.2 + 3 2622 c.2331C>T c.(2329-2331)ACC>ACT p.T777T TLR4_uc004bka.2_Silent_p.T737T|TLR4_uc004bkb.2_Silent_p.T577T NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 777 Cytoplasmic (Potential).|TIR. 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 TGGAGAAGACCCTGCTCAGGC 0.552 20 40 --- --- --- --- PASS MORN5 254956 broad.mit.edu 37 9 124936896 124936896 + Silent SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:124936896A>T uc004blw.2 + 4 491 c.429A>T c.(427-429)CTA>CTT p.L143L MORN5_uc011lyn.1_Silent_p.L143L|MORN5_uc011lyo.1_3'UTR NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN MORN repeat containing 5 143 0 ACCGCTTTCTAAGAAACGCAG 0.458 38 74 --- --- --- --- PASS MAPKAP1 79109 broad.mit.edu 37 9 128206877 128206877 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr9:128206877C>A uc004bpv.2 - 11 1679 c.1346G>T c.(1345-1347)AGT>ATT p.S449I MAPKAP1_uc011lzt.1_Missense_Mutation_p.S252I|MAPKAP1_uc010mwz.2_RNA|MAPKAP1_uc011lzu.1_Missense_Mutation_p.S252I|MAPKAP1_uc011lzv.1_Missense_Mutation_p.S157I|MAPKAP1_uc004bpw.2_Missense_Mutation_p.S257I|MAPKAP1_uc004bpx.2_Missense_Mutation_p.S257I|MAPKAP1_uc004bpy.2_Missense_Mutation_p.S413I|MAPKAP1_uc004bpz.2_Missense_Mutation_p.S402I|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bpu.2_RNA NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 449 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 TATTGCGTGACCTGCAGAGAC 0.463 28 40 --- --- --- --- PASS ZNF485 220992 broad.mit.edu 37 10 44104702 44104702 + Splice_Site SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:44104702G>T uc010qfc.1 + 4 346 c.152_splice c.e4-1 p.G51_splice ZNF485_uc010qfd.1_Intron NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTATGAACAGGGCTTCTCTC 0.463 14 35 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50953543 50953543 + Splice_Site SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:50953543C>A uc001jie.2 - 12 1619 c.1477_splice c.e12-1 p.V493_splice OGDHL_uc009xog.2_Splice_Site_p.V520_splice|OGDHL_uc010qgt.1_Splice_Site_p.V436_splice|OGDHL_uc010qgu.1_Splice_Site_p.V284_splice|OGDHL_uc009xoh.2_Splice_Site_p.V284_splice NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGTAACAGACCTGCAGGAGCA 0.587 12 86 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50953930 50953930 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:50953930C>A uc001jie.2 - 11 1532 c.1390G>T c.(1390-1392)GCC>TCC p.A464S OGDHL_uc009xog.2_Missense_Mutation_p.A491S|OGDHL_uc010qgt.1_Missense_Mutation_p.A407S|OGDHL_uc010qgu.1_Missense_Mutation_p.A255S|OGDHL_uc009xoh.2_Missense_Mutation_p.A255S NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 464 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGGTCATCGGCATTCACATGG 0.562 29 76 --- --- --- --- PASS SGMS1 259230 broad.mit.edu 37 10 52087052 52087052 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:52087052T>C uc001jje.2 - 8 1608 c.654A>G c.(652-654)ATA>ATG p.I218M SGMS1_uc010qhk.1_Missense_Mutation_p.I49M|SGMS1_uc009xot.1_RNA|SGMS1_uc010qhl.1_RNA NM_147156 NP_671512 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 224 Helical; (Potential). apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity ovary(1)|kidney(1) 2 GCGTGCCAACTATGCAGAAAA 0.378 14 45 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61832138 61832138 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:61832138G>A uc001jky.2 - 37 8693 c.8501C>T c.(8500-8502)GCA>GTA p.A2834V ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2834 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TATATGACATGCCAAGTCTTT 0.408 35 101 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61832139 61832139 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:61832139C>A uc001jky.2 - 37 8692 c.8500G>T c.(8500-8502)GCA>TCA p.A2834S ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2834 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATATGACATGCCAAGTCTTTA 0.408 35 102 --- --- --- --- PASS RHOBTB1 9886 broad.mit.edu 37 10 62652698 62652698 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:62652698C>A uc001jli.2 - 6 790 c.352G>T c.(352-354)GTG>TTG p.V118L RHOBTB1_uc001jlh.2_Missense_Mutation_p.V118L|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V118L|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V118L|RHOBTB1_uc009xpe.1_Intron NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 118 Rho-like. 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) ATGCTTTTCACATGATTTAGG 0.438 14 96 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68526159 68526159 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:68526159T>A uc009xpn.1 - 9 1267 c.1144A>T c.(1144-1146)ATA>TTA p.I382L CTNNA3_uc001jmw.2_Missense_Mutation_p.I382L|CTNNA3_uc001jmx.3_Missense_Mutation_p.I382L NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 382 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 ACATGATCTATAATAGCCTTG 0.383 34 71 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73464789 73464789 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:73464789A>T uc001jrx.3 + 24 3232 c.2855A>T c.(2854-2856)GAG>GTG p.E952V CDH23_uc001jry.2_Missense_Mutation_p.E568V|CDH23_uc001jrz.2_Missense_Mutation_p.E568V NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 952 Cadherin 9.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACCACCACCGAGCTGGACCGC 0.667 32 88 --- --- --- --- PASS LIPK 643414 broad.mit.edu 37 10 90490874 90490874 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:90490874G>A uc010qmv.1 + 3 358 c.358G>A c.(358-360)GGA>AGA p.G120R NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN lipase, family member K precursor 120 lipid catabolic process extracellular region hydrolase activity ovary(2) 2 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) GAACAGCCGAGGAAACACTTG 0.438 3 21 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105200258 105200258 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:105200258A>T uc001kwy.1 + 29 4447 c.4360A>T c.(4360-4362)AGC>TGC p.S1454C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1454 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ggagATGCCCAGCAAGGAGAA 0.363 5 29 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119044590 119044590 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:119044590G>C uc001lde.1 - 5 1853 c.1654C>G c.(1654-1656)CTA>GTA p.L552V NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 552 Pro-rich. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TTCGGTGGTAGTGGGTGACTT 0.418 13 153 --- --- --- --- PASS CPXM2 119587 broad.mit.edu 37 10 125506412 125506412 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr10:125506412C>G uc001lhk.1 - 14 2464 c.2139G>C c.(2137-2139)AGG>AGC p.R713S CPXM2_uc001lhj.2_Intron NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 713 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TGAAGTCACACCTTGTGGCCC 0.552 30 186 --- --- --- --- PASS SIGIRR 59307 broad.mit.edu 37 11 405988 405988 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:405988G>A uc001lpd.2 - 10 1471 c.1141C>T c.(1141-1143)CGG>TGG p.R381W SIGIRR_uc001lpf.2_Missense_Mutation_p.R381W|SIGIRR_uc001lpe.1_Missense_Mutation_p.R381W|SIGIRR_uc001lpg.2_Missense_Mutation_p.P477L NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 381 Cytoplasmic (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCGCTGCTCCGGCTCTCTCCC 0.632 3 20 --- --- --- --- PASS TRIM21 6737 broad.mit.edu 37 11 4407416 4407416 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:4407416C>T uc001lyy.1 - 6 943 c.830G>A c.(829-831)GGG>GAG p.G277E NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 277 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTTCTTCAGCCCTGGCACATG 0.542 13 51 --- --- --- --- PASS OR52A4 390053 broad.mit.edu 37 11 5142212 5142212 + Silent SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:5142212A>G uc001lzz.1 - 1 597 c.597T>C c.(595-597)ATT>ATC p.I199I NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGACCTTATTAATGTAAACAT 0.388 11 55 --- --- --- --- PASS PARVA 55742 broad.mit.edu 37 11 12540006 12540006 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:12540006C>T uc001mki.2 + 12 1033 c.984C>T c.(982-984)TCC>TCT p.S328S NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 328 CH 2. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) TGAATGTCTCCTTTGCCTTTG 0.542 6 30 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17141433 17141433 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:17141433C>A uc001mmq.3 - 15 2812 c.2746G>T c.(2746-2748)GCC>TCC p.A916S PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.A536S|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 916 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 p.A916T(1) lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) CAGTTTGGGGCGCTTGCTAAT 0.363 24 62 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17450120 17450120 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:17450120G>C uc001mnc.2 - 13 2041 c.1915C>G c.(1915-1917)CAG>GAG p.Q639E NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 639 Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACCACCGCCTGGTACTTGCTG 0.607 14 45 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36596185 36596185 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:36596185C>T uc001mwu.3 + 2 1455 c.1331C>T c.(1330-1332)GCG>GTG p.A444V RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 444 NBD. A -> V (in OS/T(-)B(-)NK(+) SCID; atypical). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GCTCTGAGGGCGAGGAATGAG 0.562 Familial_Hemophagocytic_Lymphohistiocytosis 9 68 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032733 55032733 + Silent SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:55032733T>A uc010rid.1 + 2 488 c.402T>A c.(400-402)TCT>TCA p.S134S NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 118 B box-type. intracellular zinc ion binding 0 GCTCCAGCTCTCAGGAGCACC 0.512 18 59 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433515 55433515 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:55433515G>T uc001nht.3 + 3 1138 c.873G>T c.(871-873)GAG>GAT p.E291D OR4C6_uc010rik.1_Missense_Mutation_p.E291D NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGAATGCAGAGGTGAAAAGTG 0.458 14 44 --- --- --- --- PASS OR5W2 390148 broad.mit.edu 37 11 55681351 55681351 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:55681351T>A uc010rir.1 - 1 708 c.708A>T c.(706-708)AAA>AAT p.K236N NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAGAGAGAGCTTTGAACCTCC 0.408 16 55 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56113545 56113545 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:56113545G>T uc010rjg.1 + 1 31 c.31G>T c.(31-33)GCA>TCA p.A11S NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CAATCACACGGCAGTGACCAA 0.378 HNSCC(65;0.19) 10 61 --- --- --- --- PASS MARK2 2011 broad.mit.edu 37 11 63672277 63672277 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:63672277C>T uc001nxw.2 + 16 2275 c.1696C>T c.(1696-1698)CCT>TCT p.P566S MARK2_uc001nxx.2_Missense_Mutation_p.P512S|MARK2_uc001nxy.2_Missense_Mutation_p.P511S|MARK2_uc001nxv.3_Missense_Mutation_p.P511S|MARK2_uc001nxz.3_Missense_Mutation_p.P532S|MARK2_uc009yoy.2_Missense_Mutation_p.P486S NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 566 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CCAGCGTGTCCCTGTTGCCTC 0.627 14 59 --- --- --- --- PASS SNX32 254122 broad.mit.edu 37 11 65620199 65620199 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:65620199C>T uc001ofr.2 + 11 1138 c.1011C>T c.(1009-1011)GCC>GCT p.A337A NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 337 cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) TGCGGCCCGCCGAGAGCCACC 0.701 4 19 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82868499 82868499 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:82868499G>T uc001ozx.3 + 1 363 c.18G>T c.(16-18)CCG>CCT p.P6P PCF11_uc010rsu.1_Silent_p.P6P|PCF11_uc001ozy.2_Silent_p.P6P NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 6 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AGCAGACGCCGGCCGAGGCCG 0.652 23 58 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92616492 92616492 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:92616492C>T uc001pdj.3 + 23 12887 c.12870C>T c.(12868-12870)CCC>CCT p.P4290P FAT3_uc001pdi.3_Silent_p.P730P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4290 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCAACCTCCCCGCCGTGTCAC 0.652 TCGA Ovarian(4;0.039) 10 23 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108381393 108381393 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:108381393C>T uc001pkk.2 - 6 4952 c.4841G>A c.(4840-4842)AGA>AAA p.R1614K EXPH5_uc010rvy.1_Missense_Mutation_p.R1426K|EXPH5_uc010rvz.1_Missense_Mutation_p.R1458K|EXPH5_uc010rwa.1_Missense_Mutation_p.R1538K NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1614 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) AGCTACATGTCTTCTGGGGCT 0.463 12 137 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118374454 118374454 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:118374454A>G uc001pta.2 + 27 7861 c.7838A>G c.(7837-7839)AAA>AGA p.K2613R MLL_uc001ptb.2_Missense_Mutation_p.K2616R NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2613 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GGCTCTTTTAAAAGGAGGTAT 0.468 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 14 33 --- --- --- --- PASS FEZ1 9638 broad.mit.edu 37 11 125359548 125359548 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:125359548G>T uc001qbx.2 - 2 278 c.126C>A c.(124-126)TCC>TCA p.S42S FEZ1_uc010sbc.1_Silent_p.S42S|FEZ1_uc001qby.1_Silent_p.S42S NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 42 axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) GCTCGGAGAGGGAGGGGTCCT 0.502 19 93 --- --- --- --- PASS B3GAT1 27087 broad.mit.edu 37 11 134254047 134254047 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:134254047C>T uc001qhq.2 - 4 409 c.148G>A c.(148-150)GGC>AGC p.G50S B3GAT1_uc001qhr.2_Missense_Mutation_p.G50S|B3GAT1_uc010scv.1_Missense_Mutation_p.G63S NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 50 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GGGTCGGCGCCGGGCGGCGTT 0.701 8 21 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1137166 1137166 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:1137166C>T uc001qjb.2 + 2 338 c.97C>T c.(97-99)CGT>TGT p.R33C ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.R33C|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Missense_Mutation_p.R33C NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 33 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) CTTGGGTCACCGTCGAACCAA 0.552 33 123 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 2027512 2027512 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:2027512G>T uc001qjp.2 - 1 359 c.128C>A c.(127-129)GCC>GAC p.A43D CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A43D NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 43 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AAAGGCCCAGGCCACGGGCAT 0.652 10 11 --- --- --- --- PASS CD27 939 broad.mit.edu 37 12 6560174 6560174 + Nonsense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:6560174A>T uc001qod.2 + 5 863 c.652A>T c.(652-654)AGA>TGA p.R218* LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_RNA|CD27_uc001qoe.2_Nonsense_Mutation_p.R68*|LOC678655_uc009zem.1_Intron|LOC678655_uc001qof.2_Intron|TAPBPL_uc001qog.3_5'Flank|TAPBPL_uc001qoh.3_5'Flank|TAPBPL_uc001qoi.1_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 218 Cytoplasmic (Potential). anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 AAGGAAATATAGATCAAGTAA 0.542 9 144 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18854646 18854646 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:18854646C>A uc010sid.1 - 8 1120 c.929G>T c.(928-930)AGA>ATA p.R310I PLCZ1_uc001rdv.3_Missense_Mutation_p.R206I|PLCZ1_uc001rdw.3_Missense_Mutation_p.R51I|PLCZ1_uc001rdu.1_Missense_Mutation_p.R51I|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 310 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AGAACCTTTTCTTTCATGGGT 0.269 10 19 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21711179 21711179 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:21711179G>A uc001rfb.2 - 11 1632 c.1377C>T c.(1375-1377)ACC>ACT p.T459T NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 459 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 TCCGTCTAATGGTGCTGAGGA 0.428 16 76 --- --- --- --- PASS ETNK1 55500 broad.mit.edu 37 12 22812020 22812020 + Silent SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:22812020T>G uc001rft.2 + 3 778 c.756T>G c.(754-756)CTT>CTG p.L252L ETNK1_uc009ziz.2_Silent_p.L252L NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 252 RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111). phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 AATCTAATCTTTGGCTAAAGA 0.338 16 69 --- --- --- --- PASS KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T A A rs17851045 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:25380275T>A uc001rgp.1 - 3 364 c.183A>T c.(181-183)CAA>CAT p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423 Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 31 44 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39735383 39735383 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:39735383C>A uc001rly.2 - 14 1991 c.1845G>T c.(1843-1845)GAG>GAT p.E615D KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Missense_Mutation_p.E602D|KIF21A_uc001rlz.2_Missense_Mutation_p.E602D|KIF21A_uc010skl.1_Missense_Mutation_p.E602D NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 615 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) cctcctcctcctcttcttcat 0.303 10 32 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40441918 40441918 + Silent SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:40441918T>C uc010skm.1 - 2 702 c.651A>G c.(649-651)ACA>ACG p.T217T SLC2A13_uc001rmf.2_Silent_p.T217T NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 217 Helical; Name=5; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) ACTGCCCTCCTGTGATGAAGA 0.408 HNSCC(50;0.14) 42 154 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49431525 49431525 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:49431525C>A uc001rta.3 - 34 9614 c.9614G>T c.(9613-9615)GGA>GTA p.G3205V NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3205 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGAGGATCCTCCTGGGCCACT 0.602 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 5 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50185658 50185658 + Silent SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:50185658G>C uc009zlk.2 - 13 4171 c.3969C>G c.(3967-3969)CTC>CTG p.L1323L NCKAP5L_uc001rvc.3_Silent_p.L527L|NCKAP5L_uc001rvb.2_3'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1319 central_nervous_system(1) 1 GCGAGTCGTAGAGTGAGTCAC 0.677 4 26 --- --- --- --- PASS KRT71 112802 broad.mit.edu 37 12 52942093 52942093 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:52942093G>T uc001sao.2 - 5 891 c.821C>A c.(820-822)ACT>AAT p.T274N NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 274 Coil 1B.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) CTGGATCTGAGTGATCTCCTG 0.532 31 54 --- --- --- --- PASS STAT6 6778 broad.mit.edu 37 12 57492632 57492632 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:57492632T>C uc009zpe.2 - 18 2260 c.2009A>G c.(2008-2010)TAT>TGT p.Y670C STAT6_uc009zpf.2_Missense_Mutation_p.Y670C|STAT6_uc001sna.2_Missense_Mutation_p.Y670C|STAT6_uc010srb.1_Missense_Mutation_p.Y560C|STAT6_uc010src.1_Missense_Mutation_p.Y560C|STAT6_uc010srd.1_Missense_Mutation_p.Y560C|STAT6_uc009zpg.2_Missense_Mutation_p.Y719C NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 670 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 TCCAAGGTCATAAGAAGGCAC 0.542 43 154 --- --- --- --- PASS CAND1 55832 broad.mit.edu 37 12 67706425 67706425 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:67706425G>A uc001stn.2 + 15 3945 c.3508G>A c.(3508-3510)GAT>AAT p.D1170N CAND1_uc001sto.2_Missense_Mutation_p.D680N NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 1170 HEAT 27. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGAAAAACAAGATGAATTAAA 0.398 14 17 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78225481 78225481 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:78225481C>G uc001syp.2 + 1 413 c.240C>G c.(238-240)AGC>AGG p.S80R NAV3_uc001syo.2_Missense_Mutation_p.S80R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 80 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAGAAGACAGCAAGGTTAGTT 0.413 HNSCC(70;0.22) 16 21 --- --- --- --- PASS C12orf12 196477 broad.mit.edu 37 12 91348137 91348137 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:91348137G>C uc001tbj.2 - 1 817 c.383C>G c.(382-384)TCC>TGC p.S128C NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 128 central_nervous_system(1)|pancreas(1) 2 AGGGTTCCAGGACCCGCTCCA 0.677 3 33 --- --- --- --- PASS MYO1H 283446 broad.mit.edu 37 12 109834222 109834222 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:109834222G>T uc010sxn.1 + 3 276 c.276G>T c.(274-276)ATG>ATT p.M92I NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 ACCGAATGATGTGTGCTGAAC 0.463 11 41 --- --- --- --- PASS MVK 4598 broad.mit.edu 37 12 110019347 110019347 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:110019347C>T uc001toy.3 + 5 703 c.519C>T c.(517-519)TGC>TGT p.C173C MVK_uc009zvk.2_Silent_p.C173C|MVK_uc010sxr.1_Intron|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 173 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 ACGGGGATTGCGTCAACAGGT 0.522 8 39 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119583443 119583443 + Silent SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:119583443G>C uc001txa.1 + 9 1321 c.1029G>C c.(1027-1029)GGG>GGC p.G343G NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 343 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 AGAACAAGGGGGCCATGTTGG 0.617 6 16 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130845880 130845880 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr12:130845880G>T uc001uik.2 + 15 1911 c.1821G>T c.(1819-1821)CAG>CAT p.Q607H PIWIL1_uc001uij.1_Missense_Mutation_p.Q607H NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 607 RNA-binding (By similarity).|Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TTGCCCTACAGATGAACTGCA 0.473 40 59 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23905162 23905162 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr13:23905162T>A uc001uon.2 - 10 13442 c.12853A>T c.(12853-12855)AGC>TGC p.S4285C SACS_uc001uoo.2_Missense_Mutation_p.S4138C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4285 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTCTTGTGGCTCTCTCTACCA 0.478 24 76 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42874720 42874720 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr13:42874720G>T uc001uys.1 + 8 2013 c.1838G>T c.(1837-1839)AGT>ATT p.S613I NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 613 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CGTGCCATTAGTGGCCTGGCT 0.388 12 54 --- --- --- --- PASS CYSLTR2 57105 broad.mit.edu 37 13 49281661 49281661 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr13:49281661G>T uc010acx.1 + 6 1391 c.708G>T c.(706-708)TCG>TCT p.S236S CYSLTR2_uc010acy.1_Silent_p.S236S|CYSLTR2_uc010acz.1_Silent_p.S236S|CYSLTR2_uc010ada.1_Silent_p.S236S|CYSLTR2_uc010adb.1_Silent_p.S236S|CYSLTR2_uc010adc.1_Silent_p.S236S|CYSLTR2_uc010add.1_Silent_p.S236S|CYSLTR2_uc010acw.1_Silent_p.S236S|CYSLTR2_uc001vck.2_Silent_p.S236S NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 236 Cytoplasmic (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TCCCAGAATCGGGGCTGCGGG 0.507 31 79 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70314552 70314552 + Silent SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr13:70314552T>A uc001vip.2 - 8 2570 c.1776A>T c.(1774-1776)ACA>ACT p.T592T KLHL1_uc010thm.1_Silent_p.T531T NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 592 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTACACCAACTGTGCTCCGAG 0.358 11 32 --- --- --- --- PASS SCEL 8796 broad.mit.edu 37 13 78208526 78208526 + Silent SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr13:78208526A>T uc001vki.2 + 29 1874 c.1704A>T c.(1702-1704)GGA>GGT p.G568G SCEL_uc001vkj.2_Silent_p.G548G|SCEL_uc010thx.1_Silent_p.G526G NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 568 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) CTAACACTGGAGCCAAGCAGG 0.313 7 23 --- --- --- --- PASS SOS2 6655 broad.mit.edu 37 14 50585439 50585439 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:50585439G>T uc001wxs.3 - 23 3720 c.3622C>A c.(3622-3624)CCA>ACA p.P1208T SOS2_uc010ans.2_Missense_Mutation_p.P43T|SOS2_uc010tql.1_Missense_Mutation_p.P1175T|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1208 Poly-Pro. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GGATCTCTTGGTGGTGGCGGA 0.527 28 155 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51190286 51190286 + Silent SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:51190286T>A uc001wyi.2 - 31 6488 c.6297A>T c.(6295-6297)GCA>GCT p.A2099A NIN_uc001wyj.2_RNA NM_020921 NP_065972 Q8N4C6 NIN_HUMAN ninein isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) TTTTCTTCTCTGCTGTTTTCT 0.453 T PDGFRB MPD 11 89 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60069953 60069953 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:60069953G>A uc001xen.1 - 7 2415 c.2206C>T c.(2206-2208)CCT>TCT p.P736S RTN1_uc001xem.1_Missense_Mutation_p.P316S|RTN1_uc001xek.1_Missense_Mutation_p.P168S|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.P153S NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 736 Reticulon. neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TACACTACAGGTAGAGTAAAC 0.303 7 44 --- --- --- --- PASS SIX4 51804 broad.mit.edu 37 14 61180336 61180336 + Missense_Mutation SNP C A A rs112624131 byFrequency TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:61180336C>A uc001xfc.2 - 3 2135 c.2135G>T c.(2134-2136)CGT>CTT p.R712L NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 712 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CAGAACCAAACGATGTTCTTG 0.443 11 46 --- --- --- --- PASS C14orf181 400223 broad.mit.edu 37 14 69262628 69262628 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:69262628C>T uc001xkj.1 - 1 563 c.384G>A c.(382-384)GAG>GAA p.E128E ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank NM_207442 NP_997325 hypothetical protein LOC400223 0 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) CCGACCCGCCCTCGCCCAGAC 0.751 3 26 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70517727 70517727 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:70517727G>T uc001xly.2 - 6 2883 c.2129C>A c.(2128-2130)GCA>GAA p.A710E SLC8A3_uc001xlu.2_Missense_Mutation_p.A67E|SLC8A3_uc001xlv.2_Missense_Mutation_p.A81E|SLC8A3_uc001xlw.2_Missense_Mutation_p.A707E|SLC8A3_uc001xlx.2_Missense_Mutation_p.A708E|SLC8A3_uc001xlz.2_Missense_Mutation_p.A704E|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.A67E NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 710 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTTCTCACCTGCACTGACGGT 0.562 7 44 --- --- --- --- PASS FAM161B 145483 broad.mit.edu 37 14 74409390 74409390 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:74409390G>A uc001xpd.1 - 4 1060 c.954C>T c.(952-954)ATC>ATT p.I318I NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 CTCTCATTTGGATGCGAATTT 0.547 9 65 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75017963 75017963 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:75017963C>A uc001xqa.2 - 7 1877 c.1490G>T c.(1489-1491)GGG>GTG p.G497V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 497 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCCTCCACCCCGCCCCGCAC 0.677 10 24 --- --- --- --- PASS DIO2 1734 broad.mit.edu 37 14 80677628 80677628 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:80677628A>T uc010tvq.1 - 2 590 c.188T>A c.(187-189)GTC>GAC p.V63D uc001xuw.1_5'Flank|DIO2_uc010tvp.1_Missense_Mutation_p.V63D|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_Missense_Mutation_p.V63D|DIO2_uc010tvr.1_Missense_Mutation_p.V63D|DIO2_uc010asy.2_Missense_Mutation_p.V63D NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 63 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) GCTCTTCCAGACGCAGCGCAG 0.607 5 24 --- --- --- --- PASS FOXN3 1112 broad.mit.edu 37 14 89656795 89656795 + Splice_Site SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:89656795T>C uc001xxo.3 - 5 883 c.746_splice c.e5-1 p.D249_splice FOXN3_uc001xxn.3_Intron|FOXN3_uc010atk.2_Intron NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 TGTCAGGATCTGGAAAAATCA 0.413 4 19 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96779691 96779691 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr14:96779691G>A uc001yfi.2 - 24 4089 c.3724C>T c.(3724-3726)CTT>TTT p.L1242F NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1242 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CAGCTCCAAAGATGAACATGA 0.264 11 47 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22368679 22368679 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:22368679A>G uc010tzu.1 + 1 104 c.104A>G c.(103-105)TAT>TGT p.Y35C LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CTATCCTTCTATTTGTTCATC 0.418 24 343 --- --- --- --- PASS GOLGA8E 390535 broad.mit.edu 37 15 23444021 23444021 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:23444021C>A uc001yvu.2 + 14 1665 c.676C>A c.(676-678)CAT>AAT p.H226N NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614) CGGAGGAGAACATCTGGACAG 0.617 4 82 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921383 24921383 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:24921383C>G uc001ywo.2 + 1 843 c.369C>G c.(367-369)TTC>TTG p.F123L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 123 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) GCCGCATGTTCACTCTCCTGC 0.652 10 40 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27573988 27573988 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:27573988A>T uc001zbg.1 + 5 693 c.527A>T c.(526-528)CAC>CTC p.H176L GABRG3_uc001zbf.2_Missense_Mutation_p.H176L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 176 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CTGCAGCTGCACAACTTCCCC 0.592 9 40 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33922197 33922197 + Silent SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:33922197A>T uc001zhi.2 + 22 2806 c.2736A>T c.(2734-2736)CCA>CCT p.P912P RYR3_uc010bar.2_Silent_p.P912P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 912 4 X approximate repeats.|1.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAAAGCTCCCAGAAACTGAGA 0.348 6 17 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34064229 34064229 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:34064229G>T uc001zhi.2 + 63 8995 c.8925G>T c.(8923-8925)AAG>AAT p.K2975N RYR3_uc010bar.2_Missense_Mutation_p.K2975N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2975 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACTTGGGAAGTTCACCCATT 0.468 9 30 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41827134 41827134 + Splice_Site SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:41827134C>T uc001zod.2 - 6 666 c.542_splice c.e6-1 p.G181_splice NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTCACGGCACCTGGAAGAAAG 0.542 7 47 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52620125 52620125 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:52620125G>A uc002aby.2 - 35 4803 c.4559C>T c.(4558-4560)GCT>GTT p.A1520V MYO5A_uc002abx.3_Missense_Mutation_p.A1493V|MYO5A_uc010ugd.1_Missense_Mutation_p.A242V NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1520 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CAGGTAGTCAGCATGTCGAAC 0.358 40 172 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52659297 52659297 + Missense_Mutation SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:52659297T>G uc002aby.2 - 23 3335 c.3091A>C c.(3091-3093)AAT>CAT p.N1031H MYO5A_uc002abx.3_Missense_Mutation_p.N1031H|MYO5A_uc010uge.1_Missense_Mutation_p.N900H NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1031 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) AGCAAAGTATTTTCTTCCTTC 0.433 14 53 --- --- --- --- PASS ZNF280D 54816 broad.mit.edu 37 15 56981257 56981257 + Silent SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:56981257A>G uc002adu.2 - 9 979 c.762T>C c.(760-762)CCT>CCC p.P254P ZNF280D_uc002adv.2_Silent_p.P241P|ZNF280D_uc010bfq.2_Silent_p.P254P|ZNF280D_uc002adw.1_Silent_p.P282P|ZNF280D_uc010bfr.1_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) GATTTTTCAAAGGATCCAAAA 0.289 14 66 --- --- --- --- PASS NARG2 79664 broad.mit.edu 37 15 60715913 60715913 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:60715913T>A uc002agp.2 - 16 3104 c.2869A>T c.(2869-2871)ATG>TTG p.M957L NARG2_uc002ago.2_Missense_Mutation_p.M820L NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 957 nucleus ovary(1)|lung(1) 2 TTGGTTTCCATGGAAACTGGA 0.423 7 47 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63904582 63904582 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:63904582C>G uc002amp.2 - 77 14416 c.14268G>C c.(14266-14268)TGG>TGC p.W4756C HERC1_uc002amo.2_5'Flank NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4756 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TGTGCCAGAACCACTGCACCA 0.532 19 57 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68624760 68624760 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:68624760C>A uc002ari.2 - 13 1569 c.1482G>T c.(1480-1482)GTG>GTT p.V494V ITGA11_uc010bib.2_Silent_p.V494V NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 494 FG-GAP 5.|Potential.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) GGACATCAGTCACGCCGTCGC 0.607 7 13 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69328164 69328164 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:69328164G>T uc002ars.1 + 7 1096 c.1076G>T c.(1075-1077)GGC>GTC p.G359V NOX5_uc002arp.1_Missense_Mutation_p.G341V|NOX5_uc002arq.1_Missense_Mutation_p.G313V|NOX5_uc010bid.1_Missense_Mutation_p.G324V|NOX5_uc002arr.1_Missense_Mutation_p.G331V|NOX5_uc010bie.1_Missense_Mutation_p.G159V|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 359 Extracellular (Potential).|Ferric oxidoreductase. angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 ACGAGGCCTGGCATTGGCTGG 0.602 26 103 --- --- --- --- PASS LOXL1 4016 broad.mit.edu 37 15 74239501 74239501 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:74239501C>T uc002awc.1 + 4 1779 c.1443C>T c.(1441-1443)TGC>TGT p.C481C LOXL1_uc002awd.1_5'Flank NM_005576 NP_005567 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 preproprotein 481 Lysyl-oxidase like. protein deamination extracellular space copper ion binding 0 CCAGTTTCTGCCTGGAGGACA 0.592 9 65 --- --- --- --- PASS CHRNB4 1143 broad.mit.edu 37 15 78923422 78923422 + Missense_Mutation SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:78923422T>G uc002bed.1 - 4 467 c.355A>C c.(355-357)AAC>CAC p.N119H CHRNB4_uc002bee.1_Missense_Mutation_p.N119H|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 119 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 ACTCACTTGTTGTAAAGCACG 0.602 14 47 --- --- --- --- PASS EFTUD1 79631 broad.mit.edu 37 15 82507156 82507156 + Missense_Mutation SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr15:82507156T>C uc002bgt.1 - 15 1821 c.1652A>G c.(1651-1653)CAA>CGA p.Q551R EFTUD1_uc002bgu.1_Missense_Mutation_p.Q500R NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 551 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 GTGGGGGACTTGGGGGAGGCC 0.478 15 54 --- --- --- --- PASS MRPL28 10573 broad.mit.edu 37 16 419061 419061 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr16:419061C>T uc002cgr.1 - 2 464 c.448G>A c.(448-450)GGG>AGG p.G150R MRPL28_uc010bqu.1_Missense_Mutation_p.G150R|MRPL28_uc002cgs.1_Intron|MRPL28_uc002cgt.1_Missense_Mutation_p.G150R NM_006428 NP_006419 Q13084 RM28_HUMAN mitochondrial ribosomal protein L28 precursor 150 TPK -> ASG (in Ref. 4). translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) CGCCCCACCCCGCTTGCCTTG 0.592 5 32 --- --- --- --- PASS PAQR4 124222 broad.mit.edu 37 16 3021660 3021660 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr16:3021660G>A uc002csj.3 + 3 867 c.533G>A c.(532-534)GGA>GAA p.G178E PAQR4_uc002csk.3_Missense_Mutation_p.G139E|PAQR4_uc002csl.3_Missense_Mutation_p.G104E|PAQR4_uc010uwm.1_Missense_Mutation_p.G109E NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 178 integral to membrane receptor activity 0 CGGGCATTTGGATGGCAGGCT 0.697 19 71 --- --- --- --- PASS UMOD 7369 broad.mit.edu 37 16 20357448 20357448 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr16:20357448C>T uc002dgz.2 - 5 1311 c.1182G>A c.(1180-1182)ACG>ACA p.T394T UMOD_uc002dha.2_Silent_p.T394T|UMOD_uc002dhb.2_Silent_p.T427T NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 394 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 CAGGACGTACCGTCAACACTG 0.393 9 33 --- --- --- --- PASS NECAB2 54550 broad.mit.edu 37 16 84014678 84014678 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr16:84014678C>T uc002fhd.2 + 5 422 c.405C>T c.(403-405)GCC>GCT p.A135A NECAB2_uc002fhe.2_Silent_p.A52A NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 135 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 ATGTCCTGGCCTCCCTGGAGA 0.587 68 102 --- --- --- --- PASS ACSF3 197322 broad.mit.edu 37 16 89187245 89187245 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr16:89187245G>C uc002fmp.2 + 7 1503 c.1163G>C c.(1162-1164)CGC>CCC p.R388P ACSF3_uc010cig.1_Missense_Mutation_p.R388P|ACSF3_uc010cih.1_Missense_Mutation_p.R123P|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Missense_Mutation_p.R123P NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 388 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) GTACAGGTGCGCATTGTCTCA 0.592 35 123 --- --- --- --- PASS SGSM2 9905 broad.mit.edu 37 17 2266300 2266300 + Nonsense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:2266300G>T uc002fun.3 + 6 719 c.544G>T c.(544-546)GAA>TAA p.E182* SGSM2_uc002fum.3_Nonsense_Mutation_p.E182*|SGSM2_uc010vqw.1_Nonsense_Mutation_p.E182* NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 182 RUN. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) CTGTGCCTTGGAATACACTAA 0.617 14 73 --- --- --- --- PASS ALOX15 246 broad.mit.edu 37 17 4535513 4535513 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:4535513G>T uc002fyh.2 - 12 1618 c.1604C>A c.(1603-1605)ACC>AAC p.T535N ALOX15_uc010vsd.1_Missense_Mutation_p.T496N|ALOX15_uc010vse.1_Missense_Mutation_p.T557N NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 535 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GCCGGTGCAGGTGAAGATACA 0.572 5 48 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 54 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10348599 10348599 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:10348599C>A uc002gmn.2 - 36 5361 c.5250G>T c.(5248-5250)CAG>CAT p.Q1750H uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1750 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGCGGGCTTCCTGGACGATGT 0.468 60 94 --- --- --- --- PASS DHRS7B 25979 broad.mit.edu 37 17 21075445 21075445 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:21075445C>T uc002gyo.2 + 2 162 c.135C>T c.(133-135)CGC>CGT p.R45R DHRS7B_uc010crc.1_Silent_p.R30R NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 45 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 AGTGGGTGCGCGGGAAGGCCT 0.672 12 17 --- --- --- --- PASS ANKRD13B 124930 broad.mit.edu 37 17 27936294 27936294 + Splice_Site SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:27936294G>T uc002hei.2 + 6 868 c.755_splice c.e6+1 p.R252_splice ANKRD13B_uc002heh.2_Splice_Site_p.R120_splice|ANKRD13B_uc002hej.2_Splice_Site NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 0 CCTTTGAGAGGTGGGTGGACA 0.622 3 18 --- --- --- --- PASS WNK4 65266 broad.mit.edu 37 17 40940793 40940793 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:40940793C>A uc002ibj.2 + 11 2156 c.2135C>A c.(2134-2136)CCG>CAG p.P712Q WNK4_uc010wgx.1_Missense_Mutation_p.P376Q|WNK4_uc002ibk.1_Missense_Mutation_p.P484Q|WNK4_uc010wgy.1_Missense_Mutation_p.P56Q NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 712 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGGGACAGCCCGGAAGAGATT 0.532 51 63 --- --- --- --- PASS WNT3 7473 broad.mit.edu 37 17 44895951 44895951 + Missense_Mutation SNP G T T rs140453711 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:44895951G>T uc002ikv.2 - 1 132 c.13C>A c.(13-15)CTG>ATG p.L5M NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 5 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGCCCGAGCAGGTGGGGCTCC 0.632 15 6 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902274 51902274 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:51902274C>A uc002iua.2 + 1 2036 c.1880C>A c.(1879-1881)GCT>GAT p.A627D uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 627 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 CAGGAGAGAGCTGGTGGAGTA 0.438 50 69 --- --- --- --- PASS NOL11 25926 broad.mit.edu 37 17 65739606 65739606 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:65739606G>T uc002jgd.1 + 17 1950 c.1947G>T c.(1945-1947)TGG>TGT p.W649C NOL11_uc010wql.1_Missense_Mutation_p.W467C|NOL11_uc010deu.1_Missense_Mutation_p.W244C NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 649 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TTATGGATTGGATATGTCTAC 0.308 11 134 --- --- --- --- PASS MAP2K6 5608 broad.mit.edu 37 17 67519684 67519684 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:67519684G>T uc002jij.2 + 8 853 c.565G>T c.(565-567)GCT>TCT p.A189S NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 189 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) ACTCATCAATGCTCTCGGTCA 0.458 82 172 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73723315 73723315 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr17:73723315G>T uc002jpg.2 + 3 307 c.120G>T c.(118-120)GAG>GAT p.E40D ITGB4_uc002jph.2_Missense_Mutation_p.E40D|ITGB4_uc010dgo.2_Missense_Mutation_p.E40D|ITGB4_uc002jpi.3_Missense_Mutation_p.E40D|ITGB4_uc010dgp.1_Missense_Mutation_p.E40D|ITGB4_uc002jpj.2_Missense_Mutation_p.E40D NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 40 PSI.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGCACGGAGTGTGTCCGTG 0.602 12 9 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13104999 13104999 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:13104999G>C uc010xac.1 + 40 7048 c.6968G>C c.(6967-6969)GGA>GCA p.G2323A CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.G1848A|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.G745A|CEP192_uc002krw.2_Missense_Mutation_p.G472A|CEP192_uc002krx.2_Missense_Mutation_p.G327A|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2323 ovary(4)|pancreas(1) 5 GATGAAAGTGGAGATGTTTTT 0.383 6 127 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34174837 34174837 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:34174837G>T uc002kzt.1 + 7 791 c.694G>T c.(694-696)GTC>TTC p.V232F FHOD3_uc002kzr.1_Missense_Mutation_p.V232F|FHOD3_uc002kzs.1_Missense_Mutation_p.V232F|FHOD3_uc002kzu.1_Missense_Mutation_p.V57F|FHOD3_uc010dmz.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 232 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AATTCAGGCTGTCACTGCTGT 0.517 3 42 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34205705 34205705 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:34205705C>G uc002kzt.1 + 10 1286 c.1189C>G c.(1189-1191)CGT>GGT p.R397G FHOD3_uc002kzr.1_Missense_Mutation_p.R397G|FHOD3_uc002kzs.1_Missense_Mutation_p.R397G|FHOD3_uc002kzu.1_Missense_Mutation_p.R222G|FHOD3_uc010dmz.1_Missense_Mutation_p.R150G NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 397 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GCGAGATCTGCGTGAAAAGTA 0.602 39 115 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34359421 34359421 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:34359421C>A uc002kzt.1 + 24 4294 c.4197C>A c.(4195-4197)ACC>ACA p.T1399T FHOD3_uc002kzs.1_Silent_p.T1416T|FHOD3_uc010dmz.1_Silent_p.T1131T|FHOD3_uc010dnb.1_Missense_Mutation_p.P337H NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1399 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TGCGAAGAACCCTGAAGAGCG 0.577 4 64 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50977006 50977006 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:50977006C>A uc002lfe.1 + 23 3953 c.3366C>A c.(3364-3366)ACC>ACA p.T1122T DCC_uc010dpf.1_Silent_p.T757T NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1122 Helical; (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGATTTGCACCCGACGCTCTT 0.483 4 58 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61310651 61310651 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:61310651C>T uc002ljf.2 - 2 247 c.161G>A c.(160-162)AGC>AAC p.S54N SERPINB4_uc002lje.2_Missense_Mutation_p.S54N|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 54 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 AGCTACCTTGCTAATTTGTTG 0.443 13 119 --- --- --- --- PASS GNA11 2767 broad.mit.edu 37 19 3113400 3113400 + Missense_Mutation SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:3113400A>G uc002lxd.2 + 3 636 c.394A>G c.(394-396)ATC>GTC p.I132V NM_002067 NP_002058 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), 132 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity eye(70)|skin(16) 86 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CGTCAGTGCCATCAAGACCCT 0.642 Mis uveal melanoma 17 46 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5733877 5733877 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:5733877C>G uc002mda.2 + 5 348 c.287C>G c.(286-288)CCA>CGA p.P96R TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 96 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTCGGCGTACCAGAAGTGACA 0.343 11 35 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8996331 8996331 + Silent SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:8996331G>C uc002mkp.2 - 61 41445 c.41241C>G c.(41239-41241)CTC>CTG p.L13747L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L564L|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13749 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATTGACAAAGAGGCTGTCGT 0.547 32 150 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063537 9063537 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:9063537G>T uc002mkp.2 - 3 24113 c.23909C>A c.(23908-23910)CCT>CAT p.P7970H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7972 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAAAAGGAAGGTCTAGTTTT 0.468 4 41 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9069583 9069583 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:9069583G>T uc002mkp.2 - 3 18067 c.17863C>A c.(17863-17865)CTC>ATC p.L5955I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5957 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCACAGGGAGAGCAGAAGTG 0.493 8 69 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9070657 9070657 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:9070657C>A uc002mkp.2 - 3 16993 c.16789G>T c.(16789-16791)GTG>TTG p.V5597L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5599 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCCTGAGACACGGTTGAATGA 0.532 32 89 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9073626 9073626 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:9073626C>A uc002mkp.2 - 3 14024 c.13820G>T c.(13819-13821)AGC>ATC p.S4607I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4609 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGGAGGGTGCTGTTCTCTTT 0.493 12 44 --- --- --- --- PASS ZNF559 84527 broad.mit.edu 37 19 9453161 9453161 + Missense_Mutation SNP G A A rs138021555 byFrequency TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:9453161G>A uc002mlg.2 + 7 1681 c.1034G>A c.(1033-1035)CGA>CAA p.R345Q ZNF559_uc002mlf.2_Missense_Mutation_p.R114Q|ZNF559_uc010dwl.1_Missense_Mutation_p.R114Q|ZNF559_uc010xkn.1_Missense_Mutation_p.R337Q|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.R409Q|ZNF559_uc010dwk.1_Missense_Mutation_p.R114Q|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 345 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAACACAGGCGAACTCACACT 0.413 6 30 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10088368 10088368 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:10088368C>T uc002mmq.1 - 42 3114 c.3028G>A c.(3028-3030)GGT>AGT p.G1010S NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1010 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCGCGCTCACCAGGGGAGCCC 0.582 3 26 --- --- --- --- PASS KRI1 65095 broad.mit.edu 37 19 10668287 10668287 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:10668287G>C uc002moy.1 - 16 1585 c.1576C>G c.(1576-1578)CCC>GCC p.P526A KRI1_uc002mow.1_Missense_Mutation_p.P145A|KRI1_uc002mox.1_Missense_Mutation_p.P522A NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 526 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AAGCGACAGGGCAGGTCGTCG 0.627 12 74 --- --- --- --- PASS PODNL1 79883 broad.mit.edu 37 19 14046575 14046575 + Missense_Mutation SNP C T T rs150464916 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:14046575C>T uc002mxr.2 - 5 748 c.474G>A c.(472-474)ATG>ATA p.M158I PODNL1_uc010xni.1_Missense_Mutation_p.M76I|PODNL1_uc010xnj.1_Missense_Mutation_p.M156I|PODNL1_uc002mxs.2_Intron NM_024825 NP_079101 Q6PEZ8 PONL1_HUMAN podocan-like 1 isoform 1 158 Leu-rich.|LRR 4. proteinaceous extracellular matrix central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(19;5.26e-23) GGAAGATCTCCATCACTTGGT 0.647 6 12 --- --- --- --- PASS OR7A10 390892 broad.mit.edu 37 19 14952633 14952633 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:14952633C>T uc002mzx.1 - 1 57 c.57G>A c.(55-57)GAG>GAA p.E19E NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ATTCTGGTTCCTCTGAAATTC 0.393 5 48 --- --- --- --- PASS TMEM161A 54929 broad.mit.edu 37 19 19243982 19243982 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:19243982G>A uc002nlg.2 - 3 175 c.145C>T c.(145-147)CGG>TGG p.R49W TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.R49W|TMEM161A_uc002nli.2_Missense_Mutation_p.R49W|TMEM161A_uc002nlj.2_5'UTR NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 49 Extracellular (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) GCCAGGGCCCGAAGCTCCTCC 0.657 12 47 --- --- --- --- PASS GATAD2A 54815 broad.mit.edu 37 19 19612825 19612825 + Silent SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:19612825C>A uc010xqt.1 + 10 1860 c.1548C>A c.(1546-1548)CGC>CGA p.R516R GATAD2A_uc010xqu.1_Silent_p.R145R|GATAD2A_uc010xqv.1_Silent_p.R536R|GATAD2A_uc010xqw.1_Intron NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 516 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 GAGAGGCCCGCGACTGGAGTA 0.662 3 64 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19654652 19654652 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:19654652C>A uc002nmv.3 + 8 1383 c.1298C>A c.(1297-1299)GCC>GAC p.A433D CILP2_uc002nmw.3_Missense_Mutation_p.A439D NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 433 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 TGCGGGGACGCCAGCTCCCGC 0.682 8 55 --- --- --- --- PASS ZNF98 148198 broad.mit.edu 37 19 22574571 22574571 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:22574571G>T uc002nqt.2 - 4 1588 c.1466C>A c.(1465-1467)CCC>CAC p.P489H NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ACATTTGTAGGGCTTCTCTCC 0.393 8 73 --- --- --- --- PASS ZNF681 148213 broad.mit.edu 37 19 23926986 23926986 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:23926986C>A uc002nrk.3 - 4 1508 c.1366G>T c.(1366-1368)GGG>TGG p.G456W ZNF681_uc002nrl.3_Missense_Mutation_p.G387W|ZNF681_uc002nrj.3_Missense_Mutation_p.G387W NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 456 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAGGCTTTCCCACATTCTTCA 0.363 9 23 --- --- --- --- PASS CCNE1 898 broad.mit.edu 37 19 30303902 30303902 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:30303902G>T uc002nsn.2 + 4 321 c.138G>T c.(136-138)ATG>ATT p.M46I CCNE1_uc002nso.2_Missense_Mutation_p.M31I NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 46 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) ATGAAGAAATGGCCAAAATCG 0.552 27 59 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31770449 31770449 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:31770449G>C uc002nsy.3 - 2 315 c.250C>G c.(250-252)CGA>GGA p.R84G NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 84 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) TCAGCCATTCGGTCACTGGTC 0.587 7 44 --- --- --- --- PASS IL28B 282617 broad.mit.edu 37 19 39735108 39735108 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:39735108G>C uc010xut.1 - 2 211 c.207C>G c.(205-207)TGC>TGG p.C69W IL28B_uc010xuu.1_Missense_Mutation_p.C69W NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 69 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGCGGCACTTGCAGTCCTTCA 0.632 8 16 --- --- --- --- PASS DYRK1B 9149 broad.mit.edu 37 19 40316498 40316498 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:40316498C>A uc002omj.2 - 11 2027 c.1747G>T c.(1747-1749)GCC>TCC p.A583S DYRK1B_uc002omi.2_Missense_Mutation_p.A555S|DYRK1B_uc002omk.2_Missense_Mutation_p.A543S NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 583 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TGCTGGGGGGCAGGCGCTGGG 0.697 7 30 --- --- --- --- PASS PLD3 23646 broad.mit.edu 37 19 40876045 40876045 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:40876045G>A uc002onm.3 + 8 977 c.579G>A c.(577-579)CAG>CAA p.Q193Q PLD3_uc002onj.3_Silent_p.Q193Q|PLD3_uc002onk.3_Silent_p.Q193Q|PLD3_uc002onl.3_Silent_p.Q193Q|PLD3_uc002onn.2_Silent_p.Q193Q NM_001031696 NP_001026866 Q8IV08 PLD3_HUMAN phospholipase D3 193 Lumenal (Potential). lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding skin(2)|ovary(1) 3 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) TGGACATGCAGAAGCTGACCC 0.642 5 29 --- --- --- --- PASS GRIK5 2901 broad.mit.edu 37 19 42557753 42557753 + Splice_Site SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:42557753C>A uc002osj.1 - 10 1304 c.1269_splice c.e10+1 p.L423_splice GRIK5_uc010eib.1_Splice_Site_p.L342_splice NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGGCCACTCACCAGGATGGTT 0.622 27 30 --- --- --- --- PASS CD177 57126 broad.mit.edu 37 19 43865645 43865645 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:43865645T>A uc002owi.2 + 9 1037 c.995T>A c.(994-996)CTT>CAT p.L332H CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 332 UPAR/Ly6 2. blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) GTGCAGCCCCTTGGAACCTGT 0.597 8 37 --- --- --- --- PASS ETHE1 23474 broad.mit.edu 37 19 44011035 44011035 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:44011035G>A uc002owp.2 - 7 799 c.732C>T c.(730-732)AAC>AAT p.N244N PHLDB3_uc002own.3_5'Flank|PHLDB3_uc002owo.2_5'Flank NM_014297 NP_055112 O95571 ETHE1_HUMAN ETHE1 protein precursor 244 mitochondrial matrix|nucleus hydrolase activity|metal ion binding 0 Prostate(69;0.0153) CACAGCGCATGTTGGCTGGAA 0.522 31 54 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46308014 46308014 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:46308014G>A uc002pdm.2 - 3 1292 c.1149C>T c.(1147-1149)GTC>GTT p.V383V RSPH6A_uc002pdl.2_Silent_p.V119V NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 383 Glu-rich. intracellular ovary(1)|central_nervous_system(1) 2 gcgcctccATGACCTCGCCAC 0.353 10 8 --- --- --- --- PASS PTGIR 5739 broad.mit.edu 37 19 47127253 47127253 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:47127253C>G uc002pex.2 - 2 343 c.230G>C c.(229-231)CGC>CCC p.R77P NM_000960 NP_000951 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 77 Extracellular (Potential). cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GGAGCTGTTGCGCGCATAGGC 0.716 2 1 --- --- --- --- PASS LMTK3 114783 broad.mit.edu 37 19 49004555 49004555 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:49004555C>T uc002pjk.2 - 10 1073 c.1073G>A c.(1072-1074)CGC>CAC p.R358H NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTTGCTCTCGCGGCTCTGGTC 0.657 22 98 --- --- --- --- PASS PIH1D1 55011 broad.mit.edu 37 19 49952853 49952853 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:49952853G>A uc002pns.2 - 3 500 c.216C>T c.(214-216)TCC>TCT p.S72S PIH1D1_uc010yap.1_Missense_Mutation_p.P103S|PIH1D1_uc010yaq.1_Silent_p.S72S NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 72 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) GGATAGAGGGGGAGTGGCAGA 0.547 17 56 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52004699 52004699 + Missense_Mutation SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:52004699C>T uc002pwx.1 - 1 345 c.289G>A c.(289-291)GGG>AGG p.G97R SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 97 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTGGGTCCCCAAGGAGGTGG 0.537 72 145 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52004757 52004757 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:52004757G>T uc002pwx.1 - 1 287 c.231C>A c.(229-231)GCC>GCA p.A77A SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 77 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGTTGTTTGTGGCCACTGGAA 0.577 13 99 --- --- --- --- PASS ZNF808 388558 broad.mit.edu 37 19 53050785 53050785 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:53050785T>A uc010epq.1 + 4 261 c.84T>A c.(82-84)GAT>GAA p.D28E ZNF808_uc002pzq.2_Intron NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CTTTCAGGGATGTGGCTATAG 0.423 37 178 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55144079 55144079 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:55144079G>T uc002qgj.2 + 7 1166 c.826G>T c.(826-828)GGG>TGG p.G276W LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.G276W|LILRB1_uc002qgk.2_Missense_Mutation_p.G276W|LILRB1_uc002qgm.2_Missense_Mutation_p.G276W|LILRB1_uc010erq.2_Missense_Mutation_p.G276W|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 276 Ig-like C2-type 3.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GCCCCAGGCTGGGCTCTCCCA 0.612 HNSCC(37;0.09) 36 52 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539855 56539855 + Silent SNP A G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:56539855A>G uc002qmj.2 + 7 2256 c.2256A>G c.(2254-2256)GCA>GCG p.A752A NLRP5_uc002qmi.2_Silent_p.A733A NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 752 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCGCTGAGGCATGTCCTGTGG 0.517 52 223 --- --- --- --- PASS ZNF460 10794 broad.mit.edu 37 19 57802733 57802733 + Missense_Mutation SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:57802733G>A uc002qog.2 + 3 1146 c.824G>A c.(823-825)AGT>AAT p.S275N ZNF460_uc010ygv.1_Missense_Mutation_p.S234N NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGGGTTCACAGTGGAGAGAAG 0.502 41 59 --- --- --- --- PASS ZSCAN1 284312 broad.mit.edu 37 19 58564832 58564832 + Missense_Mutation SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:58564832T>G uc002qrc.1 + 6 887 c.640T>G c.(640-642)TGG>GGG p.W214G NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 214 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCCGAGTATCTGGGACGAGCC 0.632 34 41 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58579628 58579628 + Silent SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr19:58579628G>T uc010yhq.1 + 5 1908 c.1812G>T c.(1810-1812)TCG>TCT p.S604S ZNF135_uc002qre.2_Silent_p.S592S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Silent_p.S550S|ZNF135_uc002qrg.2_Silent_p.S562S|ZNF135_uc010yhr.1_Silent_p.S413S NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 604 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ACAGCTCCTCGCTCAGCCAGC 0.552 53 53 --- --- --- --- PASS SIRPB1 10326 broad.mit.edu 37 20 1551566 1551566 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:1551566C>A uc010gai.2 - 4 1068 c.969G>T c.(967-969)AGG>AGT p.R323S SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 323 Ig-like C1-type 2.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CCACATCGTCCCTGTGGGCAC 0.562 62 77 --- --- --- --- PASS GFRA4 64096 broad.mit.edu 37 20 3640822 3640822 + Nonsense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:3640822C>A uc002wio.2 - 4 802 c.802G>T c.(802-804)GAG>TAG p.E268* GFRA4_uc002win.2_Nonsense_Mutation_p.E238* NM_145762 NP_665705 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 isoform b 268 anchored to membrane|extracellular region|plasma membrane receptor activity 0 AGGCTGTGCTCCGGGTCTCCC 0.672 9 18 --- --- --- --- PASS ADAM33 80332 broad.mit.edu 37 20 3655185 3655185 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:3655185C>G uc002wit.2 - 6 653 c.566G>C c.(565-567)GGC>GCC p.G189A ADAM33_uc002wir.1_Missense_Mutation_p.G189A|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.G189A|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G201A|ADAM33_uc010zqh.1_Missense_Mutation_p.G189A NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 189 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GCTGGTCATGCCCGCTTTGTT 0.582 24 81 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9382159 9382159 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:9382159C>A uc002wnf.2 + 19 1669 c.1533C>A c.(1531-1533)CAC>CAA p.H511Q PLCB4_uc010gbw.1_Missense_Mutation_p.H511Q|PLCB4_uc010gbx.2_Missense_Mutation_p.H511Q|PLCB4_uc002wne.2_Missense_Mutation_p.H511Q|PLCB4_uc002wnh.2_Missense_Mutation_p.H358Q NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 511 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AGGAAGCTCACCCCGAATTCA 0.448 20 26 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20340853 20340853 + Splice_Site SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:20340853G>T uc002wru.2 + 27 3590 c.3514_splice c.e27-1 p.E1172_splice C20orf26_uc002wrw.2_Splice_Site NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GTGTTTTACAGGAGGAAGATC 0.428 OREG0025807 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 131 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20340854 20340854 + Nonsense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:20340854G>T uc002wru.2 + 27 3590 c.3514G>T c.(3514-3516)GAG>TAG p.E1172* C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1172 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGTTTTACAGGAGGAAGATCT 0.428 OREG0025807 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 131 --- --- --- --- PASS GSS 2937 broad.mit.edu 37 20 33516668 33516668 + Missense_Mutation SNP G T T rs142494184 by1000genomes TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:33516668G>T uc002xbg.2 - 13 1468 c.1388C>A c.(1387-1389)GCG>GAG p.A463E GSS_uc010zun.1_Missense_Mutation_p.A335E|GSS_uc010zuo.1_Missense_Mutation_p.A352E|GSS_uc010zup.1_Missense_Mutation_p.A394E|GSS_uc002xbh.2_RNA NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 463 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) TGCCACTCCCGCTGCCACACC 0.542 8 46 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37580988 37580988 + Missense_Mutation SNP A T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:37580988A>T uc002xjg.2 + 4 1714 c.1673A>T c.(1672-1674)AAC>ATC p.N558I NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 528 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) AGAAACTTGAACAAAGAGCGG 0.512 22 78 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41419868 41419868 + Silent SNP G T T rs140340339 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:41419868G>T uc002xkg.2 - 3 637 c.453C>A c.(451-453)CTC>CTA p.L151L PTPRT_uc010ggj.2_Silent_p.L151L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 151 Extracellular (Potential).|MAM. 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 p.L151L(1) skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGCTGATGGCGAGCTCTGCCT 0.488 32 126 --- --- --- --- PASS TTPAL 79183 broad.mit.edu 37 20 43113110 43113110 + Silent SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr20:43113110T>C uc002xmc.1 + 4 703 c.579T>C c.(577-579)AGT>AGC p.S193S TTPAL_uc002xmd.1_Silent_p.S193S|TTPAL_uc010ggr.1_Intron NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 193 CRAL-TRIO. intracellular transporter activity breast(1) 1 AAGGAGTGAGTTTATCAAAAG 0.428 15 68 --- --- --- --- PASS KCNJ6 3763 broad.mit.edu 37 21 39086791 39086791 + Silent SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr21:39086791C>G uc011aej.1 - 3 722 c.669G>C c.(667-669)CGG>CGC p.R223R KCNJ6_uc002ywo.2_Silent_p.R223R NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 223 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) GGTCCCCTACCCGGAACATCA 0.517 13 76 --- --- --- --- PASS MX1 4599 broad.mit.edu 37 21 42807802 42807802 + Silent SNP G A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr21:42807802G>A uc002yzh.2 + 8 1091 c.144G>A c.(142-144)AAG>AAA p.K48K MX1_uc002yzi.2_Silent_p.K48K|MX1_uc010goq.2_Silent_p.K48K NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 48 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) ATGAGGAGAAGGTGCGCCCCT 0.547 31 98 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32215144 32215144 + Silent SNP C T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:32215144C>T uc003als.2 + 22 1945 c.1803C>T c.(1801-1803)TTC>TTT p.F601F DEPDC5_uc011als.1_Silent_p.F601F|DEPDC5_uc011alu.1_Silent_p.F601F|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.F601F|DEPDC5_uc003alu.2_Silent_p.F41F|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alt.1_Silent_p.F573F NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 601 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TTAACCCCTTCGCTCCCTCTC 0.498 29 89 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42605710 42605710 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:42605710C>A uc003bcj.1 - 1 5736 c.5602G>T c.(5602-5604)GTT>TTT p.V1868F TCF20_uc003bck.1_Missense_Mutation_p.V1868F|TCF20_uc003bnt.2_Missense_Mutation_p.V1868F NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1868 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CTGCCACAAACCAGGTAGATT 0.468 53 117 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 44031098 44031098 + Splice_Site SNP T C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:44031098T>C uc003bdy.1 - 18 2199 c.1984_splice c.e18-1 p.V662_splice EFCAB6_uc003bdz.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzi.1_Splice_Site_p.V510_splice|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TTCCAGTACCTGACGAGGGAG 0.567 20 51 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50547272 50547272 + Nonsense_Mutation SNP C T T rs138868385 TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:50547272C>T uc003bjj.2 + 5 825 c.742C>T c.(742-744)CGA>TGA p.R248* MOV10L1_uc003bjk.3_Nonsense_Mutation_p.R248*|MOV10L1_uc011arp.1_Nonsense_Mutation_p.R228* NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 248 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGTGAAGAGGCGGTAAGAAAA 0.313 5 52 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51143492 51143492 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:51143492G>T uc003bne.1 + 17 2045 c.2045G>T c.(2044-2046)AGG>ATG p.R682M SHANK3_uc003bnf.1_Missense_Mutation_p.R137M NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 682 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TCTGTGACAAGGAAGCCAGAA 0.597 20 44 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51143493 51143493 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr22:51143493G>T uc003bne.1 + 17 2046 c.2046G>T c.(2044-2046)AGG>AGT p.R682S SHANK3_uc003bnf.1_Missense_Mutation_p.R137S NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 682 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTGTGACAAGGAAGCCAGAAG 0.597 19 43 --- --- --- --- PASS FAM48B2 170067 broad.mit.edu 37 X 24330733 24330733 + Missense_Mutation SNP G T T TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:24330733G>T uc011mjw.1 - 1 700 c.700C>A c.(700-702)CCG>ACG p.P234T NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 234 0 TGTTCCATCGGGTCGGTATTC 0.527 27 39 --- --- --- --- PASS PCYT1B 9468 broad.mit.edu 37 X 24580609 24580609 + Missense_Mutation SNP T A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:24580609T>A uc004dbi.2 - 8 1144 c.911A>T c.(910-912)CAG>CTG p.Q304L PCYT1B_uc004dbk.3_Missense_Mutation_p.Q304L|PCYT1B_uc004dbj.2_Missense_Mutation_p.Q286L NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 304 endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) GCTCCTCTCCTGGAACATCTG 0.567 3 7 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30269093 30269093 + Missense_Mutation SNP T G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:30269093T>G uc004dcc.2 + 4 803 c.483T>G c.(481-483)TTT>TTG p.F161L MAGEB1_uc004dcd.2_Missense_Mutation_p.F161L|MAGEB1_uc004dce.2_Missense_Mutation_p.F161L NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 161 MAGE. 0 AGCTCGTCTTTGGCCTTGATT 0.478 6 14 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34961941 34961941 + Silent SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:34961941C>G uc004ddi.1 + 1 1011 c.993C>G c.(991-993)CTC>CTG p.L331L NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 331 ovary(3)|breast(1) 4 TGTCCCATCTCTGCCTGGAAC 0.587 15 29 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50167245 50167245 + Splice_Site SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:50167245C>A uc010njr.1 - 2 816 c.756_splice c.e2+1 p.A252_splice NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) CTATACATTACCGCGGGATGG 0.418 13 23 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54264800 54264800 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:54264800C>A uc004dtd.1 - 19 4287 c.3848G>T c.(3847-3849)GGA>GTA p.G1283V WNK3_uc004dtc.1_Missense_Mutation_p.G1330V NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1283 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CTGAAATGATCCACTCATCGC 0.443 16 24 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963349 73963349 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:73963349C>A uc004eby.2 - 3 1660 c.1043G>T c.(1042-1044)CGA>CTA p.R348L NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 348 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTTAGACTCTCGCTTGGGGCA 0.473 18 33 --- --- --- --- PASS ZMAT1 84460 broad.mit.edu 37 X 101159199 101159199 + Nonsense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:101159199C>A uc011mrl.1 - 3 537 c.226G>T c.(226-228)GAG>TAG p.E76* ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 TAACCTACCTCATAATGTGAA 0.289 6 13 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694561 109694561 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:109694561C>G uc004eor.1 + 3 962 c.716C>G c.(715-717)ACC>AGC p.T239S RGAG1_uc011msr.1_Missense_Mutation_p.T239S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 239 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GATGAAGACACCGAAGCAATG 0.468 38 49 --- --- --- --- PASS WDR44 54521 broad.mit.edu 37 X 117566799 117566799 + Missense_Mutation SNP G C C TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:117566799G>C uc004eqn.2 + 13 2218 c.1793G>C c.(1792-1794)CGG>CCG p.R598P WDR44_uc004eqo.2_Missense_Mutation_p.R598P|WDR44_uc011mtr.1_Missense_Mutation_p.R573P|WDR44_uc010nqi.2_Missense_Mutation_p.R308P NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 598 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 TTTCGGCAACGGCCATTTTGC 0.343 41 66 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141290679 141290679 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:141290679C>A uc004fbu.1 - 3 1443 c.1095G>T c.(1093-1095)ATG>ATT p.M365I NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 365 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGCTGGACATGACACTGA 0.498 HNSCC(46;0.14) 13 77 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151821077 151821077 + Missense_Mutation SNP C A A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:151821077C>A uc004ffp.1 + 9 1252 c.1232C>A c.(1231-1233)CCG>CAG p.P411Q NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 411 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CTGGCAAGCCCGGAAAGCCTC 0.617 23 24 --- --- --- --- PASS NAA10 8260 broad.mit.edu 37 X 153195481 153195481 + Missense_Mutation SNP C G G TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:153195481C>G uc004fjm.1 - 8 778 c.667G>C c.(667-669)GAT>CAT p.D223H NAA10_uc004fjn.1_Missense_Mutation_p.D208H NM_003491 NP_003482 P41227 NAA10_HUMAN alpha-N-acetyltransferase 1A 223 DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1) 1 TCCTTGACATCTGTGCTCTCT 0.617 7 33 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144993989 144993997 + In_Frame_Del DEL CGTCCTTGA - - TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr8:144993989_144993997delCGTCCTTGA uc003zaf.1 - 32 10573_10581 c.10403_10411delTCAAGGACG c.(10402-10413)CTCAAGGACGGC>CGC p.3468_3471LKDG>R PLEC_uc003zab.1_In_Frame_Del_p.3331_3334LKDG>R|PLEC_uc003zac.1_In_Frame_Del_p.3335_3338LKDG>R|PLEC_uc003zad.2_In_Frame_Del_p.3331_3334LKDG>R|PLEC_uc003zae.1_In_Frame_Del_p.3299_3302LKDG>R|PLEC_uc003zag.1_In_Frame_Del_p.3309_3312LKDG>R|PLEC_uc003zah.2_In_Frame_Del_p.3317_3320LKDG>R|PLEC_uc003zaj.2_In_Frame_Del_p.3358_3361LKDG>R NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3468_3471 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GTCGTCTTGCCGTCCTTGAGCTGCTCAAA 0.670 59 31 --- --- --- --- Unknown 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A - - TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr11:43283606delA uc001mxe.1 - 2 c.1330delT Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K. AAGCAAATGTAAAAAAAAAAA 0.388 5 3 --- --- --- --- CNDP2 55748 broad.mit.edu 37 18 72183485 72183485 + Frame_Shift_Del DEL G - - TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chr18:72183485delG uc002llm.1 + 9 1088 c.926delG c.(925-927)TGGfs p.W309fs CNDP2_uc002lln.1_Frame_Shift_Del_p.W225fs|CNDP2_uc010dqs.2_Intron NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 309 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) ATGCACCGATGGCGGTACCCG 0.582 175 91 --- --- --- --- GPR174 84636 broad.mit.edu 37 X 78427401 78427401 + Frame_Shift_Del DEL C - - TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a3c568a6-0c43-47a7-a35a-3225fedeeb44 fd9f3633-3955-4760-8e4f-6fbed792b860 g.chrX:78427401delC uc004edg.1 + 1 933 c.897delC c.(895-897)TTCfs p.F299fs NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 299 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CTAATGAGTTCCGAAGACGGC 0.408 HNSCC(63;0.18) 33 23 --- --- --- ---