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 ZBTB17 7709 broad.mit.edu 37 1 16268633 16268633 + Missense_Mutation SNP T C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:16268633T>C uc001axl.3 - 16 2482 c.2243A>G c.(2242-2244)CAG>CGG p.Q748R ZBTB17_uc010obq.1_Missense_Mutation_p.Q665R|ZBTB17_uc010obr.1_Missense_Mutation_p.Q755R|ZBTB17_uc010obs.1_Missense_Mutation_p.Q672R NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 748 Interaction with HCFC1. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CGCGTCTGTCTGGAACATGAC 0.627 WDR63 126820 broad.mit.edu 37 1 85595746 85595746 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:85595746G>A uc001dkt.2 + 22 2674 c.2483G>A c.(2482-2484)CGT>CAT p.R828H WDR63_uc009wcl.2_Missense_Mutation_p.R789H NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 828 Potential. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) AAAAAAATTCGTGAGCAAGAA 0.363 NUP210L 91181 broad.mit.edu 37 1 154062057 154062057 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:154062057C>T uc001fdw.2 - 16 2273 c.2201G>A c.(2200-2202)CGA>CAA p.R734Q NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.R734Q NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 734 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATTTCCAATTCGGAATGTGAG 0.423 TAGLN2 8407 broad.mit.edu 37 1 159889092 159889092 + Missense_Mutation SNP A G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:159889092A>G uc001fum.1 - 3 480 c.430T>C c.(430-432)TTC>CTC p.F144L CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.F144L|TAGLN2_uc001fuo.1_Missense_Mutation_p.F144L NM_003564 NP_003555 P37802 TAGL2_HUMAN transgelin 2 144 muscle organ development nuclear membrane|plasma membrane protein binding 0 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCCCCAGAGAAGAGCCCATCA 0.547 CD244 51744 broad.mit.edu 37 1 160811483 160811483 + Missense_Mutation SNP C G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:160811483C>G uc009wtq.2 - 2 448 c.270G>C c.(268-270)TTG>TTC p.L90F CD244_uc001fxa.2_Missense_Mutation_p.L90F|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.L90F|CD244_uc010pjt.1_RNA NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 90 Extracellular (Potential).|Ig-like 1. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGAGAAGACTCAAGTTCTTGA 0.448 HMCN1 83872 broad.mit.edu 37 1 186106708 186106708 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:186106708G>A uc001grq.1 + 88 13890 c.13661G>A c.(13660-13662)CGT>CAT p.R4554H HMCN1_uc001grs.1_Missense_Mutation_p.R123H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4554 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAGAGGAGTCGTCTGTGCAAC 0.488 IGFN1 91156 broad.mit.edu 37 1 201196177 201196177 + Missense_Mutation SNP C T T rs142381894 TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:201196177C>T uc001gwc.2 + 12 3206 c.2434C>T c.(2434-2436)CGC>TGC p.R812C IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CAAGAATGACCGCAGCCTGGA 0.672 C1orf150 148823 broad.mit.edu 37 1 247712512 247712512 + Nonsense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:247712512C>T uc001idf.2 + 1 64 c.19C>T c.(19-21)CGA>TGA p.R7* C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 7 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TTATCTCCTGCGAAAACTCAG 0.468 OR2T12 127064 broad.mit.edu 37 1 248458330 248458330 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr1:248458330C>T uc010pzj.1 - 1 551 c.551G>A c.(550-552)CGT>CAT p.R184H NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ACAAGCCAAACGCACCAACAC 0.552 OR10A6 390093 broad.mit.edu 37 11 7949287 7949287 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr11:7949287C>T uc010rbh.1 - 1 923 c.923G>A c.(922-924)CGA>CAA p.R308Q NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAAAACCACTCGCCTTCGCCA 0.363 AMBRA1 55626 broad.mit.edu 37 11 46439460 46439461 + Splice_Site INS - A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr11:46439460_46439461insA uc010rgu.1 - 15 3476 c.3116_splice c.e15+1 p.E1039_splice AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc001ncv.2_Splice_Site_p.E1042_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TTAAGCCACTTACTCTGGTCGG 0.525 OR5A1 219982 broad.mit.edu 37 11 59211010 59211010 + Silent SNP C T T rs139346783 byFrequency TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr11:59211010C>T uc001nnx.1 + 1 369 c.369C>T c.(367-369)TAC>TAT p.Y123Y NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 123 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTATGGCATACGACCGATATG 0.542 STX3 6809 broad.mit.edu 37 11 59564776 59564776 + Silent SNP G T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr11:59564776G>T uc001nog.2 + 10 997 c.807G>T c.(805-807)GTG>GTT p.V269V STX3_uc010rkx.1_Intron|STX3_uc010rky.1_Intron|STX3_uc009ymt.1_Silent_p.V135V NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 269 Helical; Anchor for type IV membrane protein; (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 TTATCATTGTGCTAGTAGTTG 0.363 SLC3A2 6520 broad.mit.edu 37 11 62652817 62652817 + Missense_Mutation SNP G T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr11:62652817G>T uc001nwd.2 + 9 1514 c.1290G>T c.(1288-1290)TGG>TGT p.W430C SLC3A2_uc001nwb.2_Missense_Mutation_p.W461C|SLC3A2_uc001nwc.2_Missense_Mutation_p.W431C|SLC3A2_uc001nwe.2_Missense_Mutation_p.W399C|SLC3A2_uc001nwf.2_Missense_Mutation_p.W368C|SLC3A2_uc001nwg.2_Missense_Mutation_p.W329C NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 430 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 GCAATCGCTGGTGCAGCTGGA 0.517 MFAP5 8076 broad.mit.edu 37 12 8813465 8813465 + Nonsense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr12:8813465G>A uc001qut.1 - 3 301 c.88C>T c.(88-90)CGA>TGA p.R30* MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30* NM_003480 NP_003471 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 precursor 30 Cell attachment site (Potential). microfibril extracellular matrix structural constituent breast(1) 1 Lung SC(5;0.184) CTACCTCCTCGTTGACTATTG 0.438 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 CD63 967 broad.mit.edu 37 12 56120552 56120552 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr12:56120552G>A uc001shm.2 - 4 454 c.358C>T c.(358-360)CGG>TGG p.R120W CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W NM_001780 NP_001771 P08962 CD63_HUMAN CD63 antigen isoform A 120 Extracellular (Potential). platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane 0 ATCTGCTGCCGGAAGTTGTTA 0.557 TMEM132B 114795 broad.mit.edu 37 12 126138636 126138636 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr12:126138636C>T uc001uhe.1 + 9 2625 c.2617C>T c.(2617-2619)CCC>TCC p.P873S TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 873 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TACAAGCTTCCCCACTCAAGG 0.507 EP400 57634 broad.mit.edu 37 12 132514624 132514624 + Missense_Mutation SNP A G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr12:132514624A>G uc001ujn.2 + 28 5710 c.5675A>G c.(5674-5676)GAC>GGC p.D1892G EP400_uc001ujl.2_Missense_Mutation_p.D1891G|EP400_uc001ujm.2_Missense_Mutation_p.D1811G|SNORA49_uc001ujo.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1928 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTTATGTTGGACATTTTAGAG 0.413 FLT1 2321 broad.mit.edu 37 13 28896953 28896953 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr13:28896953C>T uc001usb.3 - 21 3212 c.2927G>A c.(2926-2928)AGT>AAT p.S976N FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 976 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ATCACTCAGACTTTTATCTTC 0.438 PCCA 5095 broad.mit.edu 37 13 100915068 100915068 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr13:100915068C>T uc001voo.2 + 10 840 c.802C>T c.(802-804)CGT>TGT p.R268C PCCA_uc010aga.2_Missense_Mutation_p.R242C|PCCA_uc010tiz.1_Missense_Mutation_p.R268C NM_000282 NP_000273 P05165 PCCA_HUMAN propionyl-Coenzyme A carboxylase, alpha 268 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity skin(2) 2 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATAATCCTCGTCATATAGA 0.274 GRTP1 79774 broad.mit.edu 37 13 114009782 114009782 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr13:114009782G>A uc001vtn.2 - 3 293 c.196C>T c.(196-198)CGG>TGG p.R66W GRTP1_uc010tkb.1_5'UTR|GRTP1_uc010tkc.1_Missense_Mutation_p.R66W|GRTP1_uc010agv.1_RNA NM_024719 NP_078995 Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 66 intracellular Rab GTPase activator activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) ACCCCTTTCCGGACATAGCGC 0.657 CMA1 1215 broad.mit.edu 37 14 24976583 24976583 + Missense_Mutation SNP G A A rs13306251 by1000genomes TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr14:24976583G>A uc001wpp.1 - 2 218 c.188C>T c.(187-189)ACG>ATG p.T63M CMA1_uc010alx.1_Intron NM_001836 NP_001827 P23946 CMA1_HUMAN chymase 1, mast cell preproprotein 63 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.0271) ATGAGCAGCCGTCAGCACAAA 0.488 KIAA1409 57578 broad.mit.edu 37 14 94103593 94103593 + Silent SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr14:94103593C>T uc001ybv.1 + 31 5483 c.5400C>T c.(5398-5400)AAC>AAT p.N1800N KIAA1409_uc001ybs.1_Silent_p.N1778N NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1955 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) gccagtgtaacgtgccaacgt 0.005 GABRA5 2558 broad.mit.edu 37 15 27193304 27193304 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr15:27193304G>A uc001zbd.1 + 12 1652 c.1313G>A c.(1312-1314)GGC>GAC p.G438D GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 438 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCTTGTTCGGCACTTTCAAC 0.438 PCSK6 5046 broad.mit.edu 37 15 101971636 101971636 + Silent SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr15:101971636C>T uc002bwy.2 - 5 860 c.546G>A c.(544-546)TCG>TCA p.S182S PCSK6_uc010bpd.2_Silent_p.S52S|PCSK6_uc010bpe.2_Silent_p.S182S|PCSK6_uc002bxa.2_Silent_p.S182S|PCSK6_uc002bxb.2_Silent_p.S182S|PCSK6_uc002bxc.1_Silent_p.S182S|PCSK6_uc002bxd.1_Silent_p.S182S|PCSK6_uc002bxe.2_Silent_p.S182S|PCSK6_uc002bxg.1_Silent_p.S182S NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 182 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATTCATTTCCGACCGGCAGC 0.532 EDC4 23644 broad.mit.edu 37 16 67917522 67917522 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr16:67917522G>A uc002eur.2 + 28 4067 c.3901G>A c.(3901-3903)GAC>AAC p.D1301N EDC4_uc010cer.2_Missense_Mutation_p.D920N|EDC4_uc002eus.2_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1301 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TGAAACTGTGGACCCAGCCCA 0.547 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PDPR 55066 broad.mit.edu 37 16 70172800 70172800 + Splice_Site SNP A G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr16:70172800A>G uc002eyf.1 + 11 2148 c.1191_splice c.e11-2 p.K397_splice CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CTGTCTATATAGGTACCTTGC 0.443 PIK3R5 23533 broad.mit.edu 37 17 8784974 8784974 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr17:8784974G>A uc002glt.2 - 17 2422 c.2355C>T c.(2353-2355)AAC>AAT p.N785N PIK3R5_uc010vuz.1_Silent_p.N785N|PIK3R5_uc002glu.3_Silent_p.N399N NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 785 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TGGATTTGGAGTTCTGCCTTT 0.493 SPACA3 124912 broad.mit.edu 37 17 31322667 31322667 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr17:31322667G>A uc002hhs.1 + 2 350 c.275G>A c.(274-276)CGT>CAT p.R92H SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 92 Extracellular (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) CTCTACGGTCGTTGTGAACTG 0.617 KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr17:39197393T>C uc002hvw.1 - 1 321 c.257A>G c.(256-258)TAC>TGC p.Y86C NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587 C17orf57 124989 broad.mit.edu 37 17 45490276 45490276 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr17:45490276G>A uc002iln.2 + 22 2827 c.2416G>A c.(2416-2418)GTC>ATC p.V806I C17orf57_uc002ilm.2_Missense_Mutation_p.V710I NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 806 EF-hand 5. calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 CTGTTGTAACGTCAGTGGTGA 0.353 SPAG9 9043 broad.mit.edu 37 17 49071128 49071128 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr17:49071128G>A uc002itc.2 - 19 2604 c.2395C>T c.(2395-2397)CCA>TCA p.P799S SPAG9_uc002itb.2_Missense_Mutation_p.P785S|SPAG9_uc002itd.2_Missense_Mutation_p.P789S|SPAG9_uc002itf.2_Missense_Mutation_p.P620S|SPAG9_uc002ita.2_Missense_Mutation_p.P642S|SPAG9_uc002ite.2_Missense_Mutation_p.P629S NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 799 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTCTTACCTGGCACACTTGCA 0.328 C18orf34 374864 broad.mit.edu 37 18 30825371 30825371 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr18:30825371G>A uc002kxn.2 - 14 1573 c.1431C>T c.(1429-1431)TAC>TAT p.Y477Y C18orf34_uc010dme.1_Translation_Start_Site|C18orf34_uc010xbr.1_Silent_p.Y477Y|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.Y477Y|C18orf34_uc002kxp.2_Silent_p.Y477Y NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 477 ovary(1) 1 TTTCAGATTCGTATTTTGATT 0.259 CELF4 56853 broad.mit.edu 37 18 35145598 35145598 + Missense_Mutation SNP T A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr18:35145598T>A uc002lae.2 - 1 403 c.7A>T c.(7-9)ATA>TTA p.I3L CELF4_uc010dnd.1_Missense_Mutation_p.I3L|CELF4_uc002lag.2_Missense_Mutation_p.I3L|CELF4_uc002laf.2_5'UTR|CELF4_uc002lai.2_5'UTR NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 3 Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 GCCATCTTTATATACATAGAG 0.537 SERPINB4 6318 broad.mit.edu 37 18 61306946 61306946 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr18:61306946G>A uc002ljf.2 - 6 620 c.534C>T c.(532-534)AAC>AAT p.N178N SERPINB4_uc002lje.2_Silent_p.N178N|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 178 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 AATAGATTGCGTTCACAAGAA 0.318 CYP2F1 1572 broad.mit.edu 37 19 41630793 41630793 + Silent SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr19:41630793C>T uc002opu.1 + 8 1190 c.1134C>T c.(1132-1134)CGC>CGT p.R378R CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 378 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CGGCCTTTCGCGGCTTCCTGA 0.597 ZNF813 126017 broad.mit.edu 37 19 53995185 53995185 + Missense_Mutation SNP G T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr19:53995185G>T uc002qbu.2 + 4 1827 c.1699G>T c.(1699-1701)GCA>TCA p.A567S ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 567 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AGCACACCTTGCACGTCACCA 0.378 NLRP5 126206 broad.mit.edu 37 19 56515184 56515184 + Missense_Mutation SNP C A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr19:56515184C>A uc002qmj.2 + 2 165 c.165C>A c.(163-165)GAC>GAA p.D55E NLRP5_uc002qmi.2_Missense_Mutation_p.D55E NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 55 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) TGGAAGGAGACAAATCGCTCA 0.423 LOC285033 285033 broad.mit.edu 37 2 96906137 96906137 + Nonsense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr2:96906137C>T uc002svp.1 + 1 161 c.76C>T c.(76-78)CGA>TGA p.R26* LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron NM_001037228 NP_001032305 Q3KRF4 Q3KRF4_HUMAN hypothetical protein LOC285033 26 0 TAATTTCTTCCGAATTCAAAA 0.408 CNTNAP5 129684 broad.mit.edu 37 2 125530374 125530374 + Splice_Site SNP A T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr2:125530374A>T uc002tno.2 + 17 2895 c.2531_splice c.e17-2 p.S844_splice CNTNAP5_uc010flu.2_Splice_Site_p.S845_splice NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TTCCGGTTTCAGCTCCTTCAG 0.458 FAM128B 80097 broad.mit.edu 37 2 130948160 130948160 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr2:130948160G>A uc002tqu.2 + 3 591 c.438G>A c.(436-438)GGG>GGA p.G146G NM_025029 NP_079305 Q6NZ67 MZT2B_HUMAN hypothetical protein LOC80097 146 centrosome|gamma-tubulin ring complex|spindle protein binding 0 Colorectal(110;0.1) TGCCCAAGGGGGGCGGGCCTG 0.647 PCK1 5105 broad.mit.edu 37 20 56139269 56139269 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr20:56139269G>A uc002xyn.3 + 7 1169 c.1006G>A c.(1006-1008)GCT>ACT p.A336T PCK1_uc010zzm.1_Missense_Mutation_p.A19T NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 336 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TTTCGGTGTCGCTCCTGGGAC 0.493 SLC17A9 63910 broad.mit.edu 37 20 61588307 61588307 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr20:61588307G>A uc002yea.3 + 2 434 c.250G>A c.(250-252)GGG>AGG p.G84R SLC17A9_uc002ydz.3_Missense_Mutation_p.G78R|SLC17A9_uc011aap.1_Missense_Mutation_p.G104R NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 84 Helical; (Potential). exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 CGGCCACCTCGGGGATCGGTA 0.662 ANKRD28 23243 broad.mit.edu 37 3 15712040 15712040 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr3:15712040C>T uc003caj.1 - 28 3042 c.2899G>A c.(2899-2901)GCT>ACT p.A967T ANKRD28_uc003cai.1_Missense_Mutation_p.A813T|ANKRD28_uc011avz.1_Missense_Mutation_p.A813T|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011avy.1_Missense_Mutation_p.A47T NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 967 nucleoplasm protein binding breast(1) 1 TTATTGGGAGCACAGGCCAAA 0.398 OXNAD1 92106 broad.mit.edu 37 3 16343240 16343240 + Silent SNP A G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr3:16343240A>G uc003caw.2 + 7 997 c.540A>G c.(538-540)GGA>GGG p.G180G OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Silent_p.G180G|OXNAD1_uc011awb.1_Silent_p.G198G NM_138381 NP_612390 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 180 NAD (By similarity).|FAD-binding FR-type. oxidoreductase activity skin(1) 1 GAGGAGTCGGAATTAACCCTC 0.483 ZNF619 285267 broad.mit.edu 37 3 40529457 40529457 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr3:40529457G>A uc011azb.1 + 6 1854 c.1576G>A c.(1576-1578)GGA>AGA p.G526R ZNF619_uc010hhz.2_Missense_Mutation_p.G477R|ZNF619_uc003ckj.2_Missense_Mutation_p.G470R|ZNF619_uc011azc.1_Missense_Mutation_p.G486R|ZNF619_uc011azd.1_Missense_Mutation_p.G442R|ZNF619_uc011aza.1_Missense_Mutation_p.G428R NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 526 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACTCATCAATGGAACAGGGCT 0.537 RBM15B 29890 broad.mit.edu 37 3 51430156 51430156 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr3:51430156G>A uc003dbd.2 + 1 1426 c.1326G>A c.(1324-1326)GGG>GGA p.G442G NM_013286 NP_037418 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 442 RRM 3. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ACCGCTTTGGGAGCATTCGGA 0.572 BOD1L 259282 broad.mit.edu 37 4 13603360 13603360 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr4:13603360C>T uc003gmz.1 - 10 5281 c.5164G>A c.(5164-5166)GAA>AAA p.E1722K BOD1L_uc010idr.1_Missense_Mutation_p.E1059K NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1722 DNA binding ovary(5)|breast(1) 6 CCCTCTGTTTCTTTTTTGGGA 0.493 UGT8 7368 broad.mit.edu 37 4 115544445 115544445 + Missense_Mutation SNP G C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr4:115544445G>C uc003ibs.2 + 2 931 c.409G>C c.(409-411)GTG>CTG p.V137L UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 137 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) CCTGCTGCTGGTGGACCCTAA 0.438 ODZ3 55714 broad.mit.edu 37 4 183714528 183714528 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr4:183714528C>T uc003ivd.1 + 25 6740 c.6703C>T c.(6703-6705)CGT>TGT p.R2235C NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2235 YD 22.|Extracellular (Potential). 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) CCTGGGAAGGCGTGTTTCTAG 0.453 MARCH6 10299 broad.mit.edu 37 5 10394249 10394249 + Nonsense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr5:10394249G>A uc003jet.1 + 8 1005 c.822G>A c.(820-822)TGG>TGA p.W274* MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169* NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 274 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 AGCTTACATGGGAAAGAGTAA 0.303 CDKL3 51265 broad.mit.edu 37 5 133634348 133634349 + Frame_Shift_Ins INS - A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr5:133634348_133634349insA uc003kzf.3 - 13 1891_1892 c.1772_1773insT c.(1771-1773)TTCfs p.F591fs CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR NM_001113575 NP_001107047 Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 isoform 1 591 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACACTACCAGAAAAAAAACCT 0.356 SLC26A2 1836 broad.mit.edu 37 5 149360771 149360771 + Missense_Mutation SNP A G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr5:149360771A>G uc003lrh.2 + 3 1883 c.1615A>G c.(1615-1617)ATA>GTA p.I539V NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 539 Helical; (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTGTTTTTCTATATTTTGTGT 0.423 VARS 7407 broad.mit.edu 37 6 31746760 31746760 + Missense_Mutation SNP T C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr6:31746760T>C uc003nxe.2 - 29 4133 c.3710A>G c.(3709-3711)GAG>GGG p.E1237G C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.E174G NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 1237 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) TTCATCTGCCTCCTGGACTTC 0.562 SLC22A7 10864 broad.mit.edu 37 6 43269393 43269393 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr6:43269393C>T uc003out.2 + 7 1123 c.1024C>T c.(1024-1026)CGG>TGG p.R342W SLC22A7_uc010jyl.1_Missense_Mutation_p.R343W|SLC22A7_uc003ous.2_Missense_Mutation_p.R340W NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 342 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CCGCACACCACGGCTCCGACA 0.617 GFRAL 389400 broad.mit.edu 37 6 55264168 55264168 + Silent SNP A T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr6:55264168A>T uc003pcm.1 + 8 1136 c.1050A>T c.(1048-1050)GGA>GGT p.G350G NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 350 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTTTCTAGGAGAAGTAATCT 0.313 IMPG1 3617 broad.mit.edu 37 6 76731930 76731930 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr6:76731930G>A uc003pik.1 - 6 699 c.569C>T c.(568-570)GCC>GTC p.A190V NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 190 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGAGACGTTGGCAACATCTGT 0.378 SLC22A3 6581 broad.mit.edu 37 6 160828117 160828117 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr6:160828117G>A uc003qti.2 + 3 605 c.578G>A c.(577-579)GGC>GAC p.G193D SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 193 Helical; (Potential). integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CTTGGTGTTGGCGTCACTGGG 0.473 EGFR 1956 broad.mit.edu 37 7 55268881 55268881 + Missense_Mutation SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr7:55268881G>A uc003tqk.2 + 25 3193 c.2947G>A c.(2947-2949)GGG>AGG p.G983R EGFR_uc010kzg.1_Missense_Mutation_p.G938R|EGFR_uc011kco.1_Missense_Mutation_p.G930R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 983 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCTGCACCAGGGGGATGAAAG 0.512 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82595087 82595087 + Silent SNP T C C TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr7:82595087T>C uc003uhx.2 - 4 4306 c.4017A>G c.(4015-4017)ACA>ACG p.T1339T PCLO_uc003uhv.2_Silent_p.T1339T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTAACTTACTGTTTTTTCTT 0.338 AKR1B10 57016 broad.mit.edu 37 7 134222353 134222353 + Silent SNP C G G TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr7:134222353C>G uc003vrr.2 + 7 1001 c.681C>G c.(679-681)TCC>TCG p.S227S NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 227 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 AAGACCCTTCCCTGCTGGAGG 0.463 EPHA1 2041 broad.mit.edu 37 7 143097029 143097029 + Missense_Mutation SNP C T T TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr7:143097029C>T uc003wcz.2 - 4 637 c.550G>A c.(550-552)GCT>ACT p.A184T NM_005232 NP_005223 P21709 EPHA1_HUMAN ephrin receptor EphA1 precursor 184 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity ovary(3)|lung(1)|breast(1) 5 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TTGTGGAAAGCGAGGTAGAGG 0.617 NCAPG2 54892 broad.mit.edu 37 7 158447341 158447341 + Missense_Mutation SNP C A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr7:158447341C>A uc003wnv.1 - 22 2837 c.2692G>T c.(2692-2694)GAC>TAC p.D898Y NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D898Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 898 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AACTGATGGTCACCAAGGCCT 0.428 NKAIN3 286183 broad.mit.edu 37 8 63659690 63659691 + Splice_Site INS - A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chr8:63659690_63659691insA uc010lyq.1 + 4 603 c.471_splice c.e4+2 p.S157_splice NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) CTACTCTCTGTAAGTGTCACTT 0.441 FTHL17 53940 broad.mit.edu 37 X 31089936 31089936 + Silent SNP G A A TCGA-06-6700-01A-12D-1845-08 TCGA-06-6700-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 6da42a38-94dd-49b7-8a03-df0f7174ca6f a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf g.chrX:31089936G>A uc004dcl.1 - 1 238 c.135C>T c.(133-135)GAC>GAT p.D45D NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 45 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 GGGCCACGTCGTCCCGGTTGA 0.582