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 KAZ 23254 broad.mit.edu 37 1 15428077 15428077 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:15428077C>A uc001avm.3 + 11 1867 c.1586C>A c.(1585-1587)GCC>GAC p.A529D KAZ_uc001avs.3_5'UTR NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 529 SAM 2. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CACTGGGTGGCCAAGGCCTGG 0.592 3 4 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23110939 23110939 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:23110939G>C uc009vqj.1 + 3 326 c.181G>C c.(181-183)GTG>CTG p.V61L EPHB2_uc001bge.2_Missense_Mutation_p.V61L|EPHB2_uc001bgf.2_Missense_Mutation_p.V61L|EPHB2_uc010odu.1_Missense_Mutation_p.V61L NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 61 Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CACGTACCAGGTGTGCAACGT 0.567 Hereditary_Prostate_Cancer 15 34 --- --- --- --- PASS RAB42 115273 broad.mit.edu 37 1 28920446 28920446 + Silent SNP C T T rs148146932 byFrequency TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:28920446C>T uc001bqu.2 + 2 441 c.135C>T c.(133-135)ACC>ACT p.T45T RAB42_uc001bqv.2_Silent_p.T45T NM_152304 NP_689517 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 45 small GTPase mediated signal transduction membrane GTP binding 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) TCGTGGAGACCTCGGTTAAAA 0.602 9 21 --- --- --- --- PASS EPB41 2035 broad.mit.edu 37 1 29385131 29385131 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:29385131C>G uc001brm.1 + 12 1883 c.1876C>G c.(1876-1878)CCC>GCC p.P626A EPB41_uc001brg.1_Missense_Mutation_p.P417A|EPB41_uc001brh.1_Intron|EPB41_uc001bri.1_Intron|EPB41_uc001brj.1_Intron|EPB41_uc001brk.2_Missense_Mutation_p.P626A|EPB41_uc001brl.1_Intron|EPB41_uc009vtl.1_Intron|EPB41_uc009vtm.1_Intron NM_203342 NP_976217 P11171 41_HUMAN erythrocyte membrane protein band 4.1 626 Spectrin--actin-binding. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton ovary(1) 1 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) GGTGACAGTACCCACCTCAAA 0.403 3 29 --- --- --- --- PASS MTF1 4520 broad.mit.edu 37 1 38288049 38288049 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:38288049C>T uc001cce.1 - 9 1652 c.1511G>A c.(1510-1512)GGG>GAG p.G504E MTF1_uc009vvj.1_Missense_Mutation_p.G195E NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 504 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TGCAGAAGCCCCAGCAACAAC 0.587 6 10 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52703869 52703869 + Silent SNP G A A rs149478229 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:52703869G>A uc001cto.2 + 4 952 c.780G>A c.(778-780)GCG>GCA p.A260A ZFYVE9_uc001ctn.2_Silent_p.A260A|ZFYVE9_uc001ctp.2_Silent_p.A260A NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 260 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 CCATGTCTGCGATTACAAGTT 0.438 25 181 --- --- --- --- PASS LEPROT 54741 broad.mit.edu 37 1 65897531 65897531 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:65897531A>G uc001dcf.2 + 4 414 c.325A>G c.(325-327)ATT>GTT p.I109V LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.I118V NM_017526 NP_059996 O15243 OBRG_HUMAN leptin receptor gene-related protein 109 Helical; (Potential). endosome membrane|Golgi membrane|integral to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CAATGCAGTCATTTTCCTTAC 0.393 12 25 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102457 66102457 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:66102457A>G uc001dci.2 + 20 3459 c.3257A>G c.(3256-3258)AAA>AGA p.K1086R LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1086 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ACCTCAATCAAAAAGAGAGAG 0.413 8 24 --- --- --- --- PASS RPAP2 79871 broad.mit.edu 37 1 92798948 92798948 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:92798948C>T uc001dot.2 + 9 1565 c.1456C>T c.(1456-1458)CAT>TAT p.H486Y RPAP2_uc009wdh.2_RNA NM_024813 NP_079089 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 486 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) TGTGATTCAGCATGATTCCAC 0.318 9 13 --- --- --- --- PASS OTUD7B 56957 broad.mit.edu 37 1 149916922 149916922 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:149916922C>G uc001etn.2 - 12 1722 c.1366G>C c.(1366-1368)GAT>CAT p.D456H NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 456 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CGGGGCTCATCTCCAGCTGAG 0.612 17 20 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158548923 158548923 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:158548923G>C uc010pin.1 - 1 767 c.767C>G c.(766-768)ACC>AGC p.T256S NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GGAGGCACAGGTGGTGAAGGC 0.483 25 100 --- --- --- --- PASS OR6N1 128372 broad.mit.edu 37 1 158735980 158735980 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:158735980G>A uc010piq.1 - 1 493 c.493C>T c.(493-495)CGC>TGC p.R165C NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AATGGGAGGCGTGAAATCAAG 0.502 23 67 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178063816 178063816 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:178063816G>T uc001glq.2 + 1 953 c.189G>T c.(187-189)TGG>TGT p.W63C RASAL2_uc009wxb.2_Missense_Mutation_p.W63C|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 2 Error:Variant_position_missing_in_Q9UJF2_after_alignment negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 AACAGAGCTGGGTCCGGGTGT 0.582 15 23 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185277948 185277948 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:185277948A>G uc001grl.2 - 5 964 c.341T>C c.(340-342)ATG>ACG p.M114T IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 114 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 TACTCGATCCATCTTCAGCTT 0.303 25 39 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196684863 196684863 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:196684863G>A uc001gtj.3 + 11 1900 c.1660G>A c.(1660-1662)GGT>AGT p.G554S NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 554 Sushi 9. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 CATAGTGTGTGGTTACAATGG 0.279 8 61 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196965332 196965332 + Splice_Site SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:196965332G>C uc001gts.3 + 6 1098 c.970_splice c.e6+1 p.A324_splice NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 ATGTGTGTTGGTGAGAAAACA 0.224 5 31 --- --- --- --- PASS ELK4 2005 broad.mit.edu 37 1 205589867 205589867 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:205589867C>A uc001hcy.1 - 3 1557 c.307G>T c.(307-309)GGT>TGT p.G103C ELK4_uc001hcz.2_Missense_Mutation_p.G103C NM_001973 NP_001964 P28324 ELK4_HUMAN ELK4 protein isoform a 103 cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity 0 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TCACAGTCACCCTCAATCCTG 0.428 T SLC45A3 prostate 16 40 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227381487 227381487 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:227381487C>A uc001hqr.2 - 5 1542 c.599G>T c.(598-600)AGA>ATA p.R200I CDC42BPA_uc001hqs.2_Missense_Mutation_p.R200I|CDC42BPA_uc009xes.2_Missense_Mutation_p.R200I|CDC42BPA_uc010pvs.1_Missense_Mutation_p.R200I NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 200 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) ACTGTTTTACCTGTGTACATA 0.378 17 33 --- --- --- --- PASS TOMM20 9804 broad.mit.edu 37 1 235291986 235291986 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:235291986G>A uc001hwl.2 - 1 271 c.45C>T c.(43-45)GCC>GCT p.A15A SNORA14B_uc001hwm.1_5'Flank NM_014765 NP_055580 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 15 Helical; (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding 0 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) CAATGAAAAGGGCCCCGCATA 0.607 35 76 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242035336 242035336 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:242035336G>T uc001hzh.2 + 12 1810 c.1270G>T c.(1270-1272)GAG>TAG p.E424* EXO1_uc001hzi.2_Nonsense_Mutation_p.E424*|EXO1_uc001hzj.2_Nonsense_Mutation_p.E424*|EXO1_uc009xgq.2_Splice_Site_p.E423_splice NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 424 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TTATTTAGCAGAGCTGTCAGA 0.333 Direct_reversal_of_damage|Editing_and_processing_nucleases 13 21 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875736 247875736 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr1:247875736C>A uc001idj.1 - 1 322 c.322G>T c.(322-324)GGC>TGC p.G108C NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTGTGCAGCCTAATGAGAAA 0.498 13 65 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1842979 1842979 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:1842979G>T uc002qxe.2 - 21 3849 c.3022C>A c.(3022-3024)CCC>ACC p.P1008T MYT1L_uc002qxd.2_Missense_Mutation_p.P1006T|MYT1L_uc010ewk.2_Missense_Mutation_p.P4T NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1008 C2HC-type 6. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCTGGCGTGGGGCAGGACATG 0.672 7 13 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8871217 8871217 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:8871217T>C uc002qzc.2 - 30 5131 c.4949A>G c.(4948-4950)AAG>AGG p.K1650R KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.K1551R|KIDINS220_uc002qzb.2_Missense_Mutation_p.K504R NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1650 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGGGCTTTTCTTGTCTTCTGA 0.522 16 39 --- --- --- --- PASS ASXL2 55252 broad.mit.edu 37 2 25965124 25965124 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:25965124G>A uc002rgs.2 - 12 4303 c.4082C>T c.(4081-4083)TCA>TTA p.S1361L ASXL2_uc002rgt.1_Missense_Mutation_p.S844L NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAGTCACTGAAAATGACAT 0.493 22 44 --- --- --- --- PASS ZNF513 130557 broad.mit.edu 37 2 27603054 27603054 + Silent SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:27603054T>C uc002rkk.2 - 2 317 c.117A>G c.(115-117)CTA>CTG p.L39L ZNF513_uc002rkj.2_5'UTR NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 39 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGGCCTAGTAGCAAATCAC 0.572 49 103 --- --- --- --- PASS ABCG8 64241 broad.mit.edu 37 2 44104801 44104801 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:44104801C>A uc002rtq.2 + 12 1948 c.1858C>A c.(1858-1860)CTC>ATC p.L620I ABCG8_uc010yoa.1_Missense_Mutation_p.L619I NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 620 ABC transmembrane type-2.|Extracellular (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTCGGGAACCTCACCATCGC 0.517 OREG0014582 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 44 --- --- --- --- PASS TET3 200424 broad.mit.edu 37 2 74300734 74300734 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:74300734G>T uc002skb.3 + 2 2148 c.2148G>T c.(2146-2148)ACG>ACT p.T716T TET3_uc010fez.1_Silent_p.T716T NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 716 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTGGCCCCACGGTCGCCTCTA 0.438 5 10 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84785056 84785056 + Silent SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:84785056A>T uc010fgb.2 + 11 1937 c.1800A>T c.(1798-1800)ATA>ATT p.I600I DNAH6_uc002soo.2_Silent_p.I179I|DNAH6_uc002sop.2_Silent_p.I179I NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 600 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 TTTCTCAAATAAAGGTATGTT 0.259 11 27 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89309696 89309696 + RNA SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:89309696C>G uc010ytr.1 - 74 c.6651G>C uc002stl.2_Intron Parts of antibodies, mostly variable regions. ACTGGCCCGGCAAGTGATGGT 0.488 60 145 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89475975 89475975 + RNA SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:89475975C>A uc010ytr.1 - 28 c.3506G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. TGGAGGCTGGCCTGGCCTCTG 0.527 38 84 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99181196 99181196 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:99181196G>T uc002syy.2 + 20 2530 c.2137G>T c.(2137-2139)GCC>TCC p.A713S INPP4A_uc010yvj.1_Missense_Mutation_p.A674S|INPP4A_uc010yvk.1_Missense_Mutation_p.A674S|INPP4A_uc002syx.2_Missense_Mutation_p.A708S|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 713 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 CGGGCTGCTGGCCCAGTTCGA 0.622 4 4 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125521621 125521621 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:125521621G>T uc002tno.2 + 16 2791 c.2427G>T c.(2425-2427)GCG>GCT p.A809A CNTNAP5_uc010flu.2_Silent_p.A810A NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 809 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CCTTCCATGCGGAATTCAGTG 0.398 21 45 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149247363 149247363 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:149247363G>T uc002twm.3 + 12 4451 c.3463G>T c.(3463-3465)GAT>TAT p.D1155Y MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.D1155Y|MBD5_uc002two.2_Missense_Mutation_p.D413Y|MBD5_uc002twp.2_Missense_Mutation_p.D205Y NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1155 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGTTGATCATGATGGTAGGCT 0.488 15 41 --- --- --- --- PASS STAM2 10254 broad.mit.edu 37 2 152977290 152977290 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:152977290G>T uc002tyc.3 - 14 1726 c.1376C>A c.(1375-1377)CCT>CAT p.P459H NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 459 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) CATATAAGTAGGATTGGAAAC 0.358 5 57 --- --- --- --- PASS NR4A2 4929 broad.mit.edu 37 2 157182348 157182348 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:157182348C>A uc002tyz.3 - 8 2127 c.1705G>T c.(1705-1707)GGG>TGG p.G569W NR4A2_uc002tyx.3_Missense_Mutation_p.G506W|NR4A2_uc010zcf.1_Missense_Mutation_p.G569W NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 569 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 CGCTGTAGCCCCTGTGTGCAA 0.478 17 48 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166897952 166897952 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:166897952G>A uc010zcz.1 - 13 2189 c.2171C>T c.(2170-2172)CCA>CTA p.P724L SCN1A_uc002udo.3_Missense_Mutation_p.P604L|SCN1A_uc010fpk.2_Missense_Mutation_p.P576L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 735 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) CCAACAGGGTGGGCATTTCTG 0.348 17 47 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 167760268 167760268 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:167760268G>T uc002udx.2 + 1 294 c.276G>T c.(274-276)CGG>CGT p.R92R XIRP2_uc010fpn.2_Silent_p.R92R|XIRP2_uc010fpo.2_Silent_p.R92R|XIRP2_uc010fpp.2_Silent_p.R92R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATATGGTCGGCCAGAAGTGC 0.522 20 28 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103133 168103133 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:168103133A>T uc002udx.2 + 8 5249 c.5231A>T c.(5230-5232)CAG>CTG p.Q1744L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q1569L|XIRP2_uc010fpq.2_Missense_Mutation_p.Q1522L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1569 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GGAAATGTTCAGTTTTTCACA 0.378 17 21 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168106057 168106057 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:168106057G>C uc002udx.2 + 8 8173 c.8155G>C c.(8155-8157)GAT>CAT p.D2719H XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2544H|XIRP2_uc010fpq.2_Missense_Mutation_p.D2497H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.D65H NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2544 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCCAACTCTAGATCATACATT 0.348 17 83 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170042267 170042267 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:170042267G>A uc002ues.2 - 50 9804 c.9591C>T c.(9589-9591)ATC>ATT p.I3197I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3197 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATAGGGTTCGATGTTACTGT 0.438 36 116 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179636118 179636118 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:179636118G>A uc010zfg.1 - 34 8160 c.7936C>T c.(7936-7938)CCA>TCA p.P2646S TTN_uc010zfh.1_Missense_Mutation_p.P2600S|TTN_uc010zfi.1_Missense_Mutation_p.P2600S|TTN_uc010zfj.1_Missense_Mutation_p.P2600S|TTN_uc002unb.2_Missense_Mutation_p.P2646S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2646 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGAATCTGGGTTGGCAACT 0.483 15 28 --- --- --- --- PASS NDUFS1 4719 broad.mit.edu 37 2 207008770 207008770 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:207008770T>A uc002vbe.2 - 10 1086 c.959A>T c.(958-960)GAG>GTG p.E320V NDUFS1_uc010ziq.1_Missense_Mutation_p.E334V|NDUFS1_uc010zir.1_Missense_Mutation_p.E284V|NDUFS1_uc010zis.1_Missense_Mutation_p.E263V|NDUFS1_uc010zit.1_Missense_Mutation_p.E209V|NDUFS1_uc010ziu.1_Missense_Mutation_p.E204V NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 320 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GAGCGCATCCTCCCAAGAAGT 0.393 25 23 --- --- --- --- PASS IQCA1 79781 broad.mit.edu 37 2 237300976 237300976 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:237300976C>A uc002vvz.1 - 10 1410 c.1228G>T c.(1228-1230)GAT>TAT p.D410Y IQCA1_uc002vwb.2_Missense_Mutation_p.D417Y|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.D369Y NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 410 Lys-rich. ATP binding ovary(1) 1 CAAGACTCATCTTTTTTCATC 0.333 3 6 --- --- --- --- PASS C2orf85 285093 broad.mit.edu 37 2 242814655 242814655 + Silent SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr2:242814655C>G uc010fzu.1 + 2 971 c.948C>G c.(946-948)GTC>GTG p.V316V NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 316 integral to membrane ovary(1) 1 ATGGCCTCGTCCCTGTGGGGA 0.657 7 12 --- --- --- --- PASS CACNA2D2 9254 broad.mit.edu 37 3 50402790 50402790 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:50402790G>A uc003daq.2 - 36 3154 c.3116C>T c.(3115-3117)TCC>TTC p.S1039F CACNA2D2_uc003dap.2_Missense_Mutation_p.S1032F|CACNA2D2_uc003dao.2_Silent_p.L77L NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 1039 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCAGCACCTGGAGCAGTTTCC 0.562 9 9 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62522231 62522231 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:62522231G>A uc003dll.2 - 12 2352 c.1992C>T c.(1990-1992)GGC>GGT p.G664G CADPS_uc003dlk.1_Silent_p.G168G|CADPS_uc003dlm.2_Silent_p.G664G|CADPS_uc003dln.2_Silent_p.G664G NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 664 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ATTCATCCATGCCATGTTTTT 0.383 21 33 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100594368 100594368 + Silent SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:100594368C>G uc003dun.2 - 8 907 c.822G>C c.(820-822)CTG>CTC p.L274L ABI3BP_uc003duo.2_Silent_p.L267L|ABI3BP_uc003dup.3_Silent_p.L267L NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 274 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TCACTCCTCCCAGTGGAGCTT 0.438 12 62 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108211976 108211976 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:108211976C>G uc003dxa.1 - 9 877 c.820G>C c.(820-822)GTG>CTG p.V274L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 274 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCAATGTCCACAGATGACAGC 0.318 4 60 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108724127 108724127 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:108724127G>A uc003dxl.2 - 19 1890 c.1803C>T c.(1801-1803)GGC>GGT p.G601G MORC1_uc011bhn.1_Silent_p.G580G NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 601 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 TCAAGTCATCGCCCAAAAGCC 0.353 7 56 --- --- --- --- PASS RABL3 285282 broad.mit.edu 37 3 120408716 120408716 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:120408716C>T uc003edx.2 - 8 695 c.665G>A c.(664-666)CGG>CAG p.R222Q NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 222 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) AAATCTTTTCCGATCAGGAAA 0.378 11 100 --- --- --- --- PASS EEFSEC 60678 broad.mit.edu 37 3 127965812 127965812 + Silent SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:127965812C>G uc003eki.2 + 2 488 c.450C>G c.(448-450)CTC>CTG p.L150L EEFSEC_uc003ekj.2_Silent_p.L150L NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 150 GTP (Potential). cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 AAATAGACCTCTTACCTGAAG 0.483 86 253 --- --- --- --- PASS AGTR1 185 broad.mit.edu 37 3 148459456 148459456 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:148459456C>A uc003ewg.2 + 4 1080 c.634C>A c.(634-636)CTT>ATT p.L212I AGTR1_uc003ewh.2_Missense_Mutation_p.L212I|AGTR1_uc003ewi.2_Missense_Mutation_p.L212I|AGTR1_uc003ewj.2_Missense_Mutation_p.L212I|AGTR1_uc003ewk.2_Missense_Mutation_p.L212I NM_031850 NP_114038 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 212 Helical; Name=5; (Potential). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity 0 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) TCTGATCATTCTTACAAGTTA 0.363 8 56 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151164451 151164451 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:151164451G>T uc011bod.1 - 4 3318 c.3318C>A c.(3316-3318)GTC>GTA p.V1106V NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1106 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGGATTCTGGACTAGAGTTG 0.443 31 184 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154055904 154055904 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:154055904A>T uc003faa.2 - 4 1880 c.1780T>A c.(1780-1782)TCC>ACC p.S594T NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 594 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ACACTTTTGGATCGATAGACT 0.413 10 177 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155203419 155203419 + Silent SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:155203419T>C uc011bok.1 - 22 3001 c.2724A>G c.(2722-2724)GTA>GTG p.V908V PLCH1_uc011boj.1_Silent_p.V908V|PLCH1_uc011bol.1_Silent_p.V870V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 908 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATCGCTTCCGTACATAATGGG 0.463 38 23 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164709160 164709160 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:164709160C>A uc003fei.2 - 44 5151 c.5089G>T c.(5089-5091)GCT>TCT p.A1697S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1697 Sucrase.|Lumenal. 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) GTGTTTTGAGCTGGCTCTTGA 0.333 HNSCC(35;0.089) 18 77 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171320967 171320967 + Silent SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:171320967T>C uc003fhs.2 - 27 3242 c.3126A>G c.(3124-3126)GGA>GGG p.G1042G PLD1_uc003fht.2_Silent_p.G1004G NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 1042 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GCACCAAAAATCCACGGATCT 0.433 18 63 --- --- --- --- PASS NDUFB5 4711 broad.mit.edu 37 3 179322629 179322629 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:179322629G>C uc003fkc.2 + 1 55 c.26G>C c.(25-27)CGG>CCG p.R9P MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.R9P NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 9 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) TTGTTGCGGCGGGTTTCGGTT 0.607 22 36 --- --- --- --- PASS IGF2BP2 10644 broad.mit.edu 37 3 185407290 185407290 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:185407290C>T uc003fpo.2 - 6 609 c.530G>A c.(529-531)CGG>CAG p.R177Q IGF2BP2_uc010hyi.2_Missense_Mutation_p.R120Q|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R114Q|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R41Q|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R114Q|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R177Q|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R182Q NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 177 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GCCTTGCTCCCGGGAAGAGTG 0.602 13 107 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194167745 194167745 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:194167745G>C uc003fty.3 - 13 1810 c.1408C>G c.(1408-1410)CAG>GAG p.Q470E ATP13A3_uc003ftz.1_Missense_Mutation_p.Q176E NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 470 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AGTCTTCTCTGAGCATACACA 0.403 7 108 --- --- --- --- PASS BDH1 622 broad.mit.edu 37 3 197260416 197260416 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:197260416C>A uc003fxr.2 - 4 502 c.100G>T c.(100-102)GGT>TGT p.G34C BDH1_uc003fxs.2_Missense_Mutation_p.G34C|BDH1_uc003fxt.2_5'UTR|BDH1_uc003fxu.2_Missense_Mutation_p.G34C NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 34 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GAAGTAGAACCAAGCAATAGT 0.572 6 145 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5687126 5687126 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:5687126C>A uc003gij.2 - 6 841 c.787G>T c.(787-789)GCC>TCC p.A263S EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.A183S NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 263 integral to membrane large_intestine(3)|ovary(2) 5 GTGAGTTGGGCAGGAAGCTTG 0.527 73 52 --- --- --- --- PASS BST1 683 broad.mit.edu 37 4 15716916 15716916 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:15716916G>T uc003goh.3 + 5 738 c.543G>T c.(541-543)AAG>AAT p.K181N BST1_uc003goi.2_Translation_Start_Site NM_004334 NP_004325 Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 precursor 181 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1) 1 AGTATTCCAAGGATAGTTCTG 0.323 4 27 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134072866 134072866 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:134072866A>G uc003iha.2 + 1 2397 c.1571A>G c.(1570-1572)TAC>TGC p.Y524C uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.Y524C NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 524 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAGAACGGCTACTTGTACGCC 0.587 9 39 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141600878 141600878 + Silent SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:141600878G>C uc010ioj.2 - 4 752 c.480C>G c.(478-480)CTC>CTG p.L160L NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 160 GRAM 1. intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AATAGTTGACGAGTTTCTCTT 0.418 6 26 --- --- --- --- PASS RNF150 57484 broad.mit.edu 37 4 141888789 141888789 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:141888789C>G uc003iio.1 - 2 1377 c.723G>C c.(721-723)AGG>AGC p.R241S RNF150_uc010iok.1_Intron|RNF150_uc003iip.1_Missense_Mutation_p.R241S NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 241 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) GGTTCCTATCCCTGGCATTTG 0.368 14 38 --- --- --- --- PASS HHIP 64399 broad.mit.edu 37 4 145655962 145655962 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:145655962G>T uc003ijs.1 + 12 2485 c.1830G>T c.(1828-1830)AGG>AGT p.R610S NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 610 EGF-like 1. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGTGCTCCAGGCTCTGTCGAA 0.502 11 28 --- --- --- --- PASS ABCE1 6059 broad.mit.edu 37 4 146026771 146026771 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:146026771G>C uc003ijx.2 + 3 558 c.118G>C c.(118-120)GAG>CAG p.E40Q ABCE1_uc003ijy.2_Missense_Mutation_p.E40Q|ABCE1_uc010iot.2_RNA NM_001040876 NP_001035809 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E, member 1 40 interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity skin(1) 1 all_hematologic(180;0.151) ATTATGCATAGAGGTTACACC 0.328 13 36 --- --- --- --- PASS KIAA0922 23240 broad.mit.edu 37 4 154512253 154512253 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:154512253G>T uc003inm.3 + 17 1768 c.1716G>T c.(1714-1716)AAG>AAT p.K572N KIAA0922_uc010ipp.2_Missense_Mutation_p.K573N|KIAA0922_uc010ipq.2_Intron NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 572 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) AGAAATCCAAGGAGTCAGAGT 0.378 5 73 --- --- --- --- PASS TDO2 6999 broad.mit.edu 37 4 156831260 156831260 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:156831260G>C uc003ipf.1 + 6 579 c.515G>C c.(514-516)AGA>ACA p.R172T NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 172 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CAGAACATGAGAGTCCCTTAT 0.373 9 39 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169342912 169342912 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr4:169342912T>A uc003irq.3 - 17 2614 c.2393A>T c.(2392-2394)AAG>ATG p.K798M DDX60L_uc003irr.1_Missense_Mutation_p.K798M|DDX60L_uc003irs.1_Missense_Mutation_p.K525M NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 798 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AAACACTACCTTTGCGGGTGC 0.453 36 76 --- --- --- --- PASS SDHA 6389 broad.mit.edu 37 5 226069 226069 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:226069G>C uc003jao.3 + 5 643 c.528G>C c.(526-528)CAG>CAC p.Q176H SDHA_uc003jan.2_Missense_Mutation_p.Q176H|SDHA_uc011clv.1_Missense_Mutation_p.Q176H|SDHA_uc011clw.1_Missense_Mutation_p.Q128H|SDHA_uc003jap.3_Missense_Mutation_p.Q176H|SDHA_uc003jaq.3_5'Flank NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 176 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TTGGTGGACAGAGCCTCAAGT 0.483 Familial_Paragangliomas 7 149 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1432761 1432761 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:1432761G>A uc003jck.2 - 4 592 c.471C>T c.(469-471)AAC>AAT p.N157N NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 157 Helical; Name=3; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CGATGATGACGTTGTAGAAGA 0.597 22 46 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9154614 9154614 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:9154614G>A uc003jek.2 - 12 2179 c.1467C>T c.(1465-1467)TTC>TTT p.F489F NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 489 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GTGTGCGGTAGAACTGGCACC 0.627 12 60 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35086375 35086375 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:35086375G>T uc003jjm.2 - 4 668 c.138C>A c.(136-138)TGC>TGA p.C46* PRLR_uc003jjg.1_Nonsense_Mutation_p.C46*|PRLR_uc003jjh.1_Nonsense_Mutation_p.C46*|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Nonsense_Mutation_p.C46*|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Intron|PRLR_uc010iuw.1_Translation_Start_Site NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 46 Fibronectin type-III 1.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCCTCCACCAGCAGGTGAATG 0.458 49 60 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256881 63256881 + Silent SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:63256881C>G uc011cqt.1 - 1 666 c.666G>C c.(664-666)GCG>GCC p.A222A NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 222 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGCGGAAGCGCGCAGCTCGGA 0.562 33 51 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70840961 70840961 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:70840961A>T uc003kbp.1 + 32 6922 c.6659A>T c.(6658-6660)GAT>GTT p.D2220V BDP1_uc003kbo.2_Missense_Mutation_p.D2220V|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 2220 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTTGGTTTGGATAGGGGTCTT 0.463 18 60 --- --- --- --- PASS CAMK4 814 broad.mit.edu 37 5 110809012 110809012 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:110809012C>A uc011cvj.1 + 9 728 c.629C>A c.(628-630)CCT>CAT p.P210H CAMK4_uc003kpf.2_Missense_Mutation_p.P210H|CAMK4_uc010jbv.2_Missense_Mutation_p.P13H NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 210 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TCTGCAGCACCTGAAATTCTT 0.318 5 69 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112173893 112173893 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:112173893G>C uc010jby.2 + 16 2982 c.2602G>C c.(2602-2604)GAA>CAA p.E868Q APC_uc011cvt.1_Missense_Mutation_p.E850Q|APC_uc003kpz.3_Missense_Mutation_p.E868Q|APC_uc003kpy.3_Missense_Mutation_p.E868Q|APC_uc010jbz.2_Missense_Mutation_p.E585Q|APC_uc010jca.2_Missense_Mutation_p.E168Q NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 868 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E868*(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCCAGCAACAGAAAATCCAGG 0.453 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 25 23 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118484909 118484909 + Silent SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:118484909A>G uc003ksd.2 + 18 3568 c.3387A>G c.(3385-3387)AAA>AAG p.K1129K DMXL1_uc010jcl.1_Silent_p.K1129K NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1129 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TATCTAGTAAAGAGAATATCA 0.333 10 53 --- --- --- --- PASS TCF7 6932 broad.mit.edu 37 5 133478442 133478442 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:133478442G>T uc003kyt.2 + 7 982 c.786G>T c.(784-786)AAG>AAT p.K262N TCF7_uc003kyu.1_Missense_Mutation_p.K147N|TCF7_uc003kyv.2_Missense_Mutation_p.K147N|TCF7_uc003kyw.2_Missense_Mutation_p.K147N|TCF7_uc003kyx.2_Missense_Mutation_p.K60N|TCF7_uc003kyy.2_Missense_Mutation_p.K147N|TCF7_uc003kyz.2_Missense_Mutation_p.K147N|TCF7_uc003kza.2_Missense_Mutation_p.K147N|TCF7_uc003kzb.2_Missense_Mutation_p.K76N|TCF7_uc010jdu.2_5'Flank NM_003202 NP_003193 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, 262 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding 0 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCAGAGAAGGAGGCCAAGA 0.532 5 67 --- --- --- --- PASS CATSPER3 347732 broad.mit.edu 37 5 134305628 134305628 + Splice_Site SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:134305628G>T uc003lag.2 + 2 167 c.99_splice c.e2-1 p.K33_splice NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTTTTGACAGGAGGAACGAT 0.393 5 71 --- --- --- --- PASS KDM3B 51780 broad.mit.edu 37 5 137762958 137762958 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:137762958C>G uc003lcy.1 + 19 4783 c.4583C>G c.(4582-4584)CCT>CGT p.P1528R KDM3B_uc010jew.1_Missense_Mutation_p.P1184R|KDM3B_uc011cys.1_Missense_Mutation_p.P560R NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1528 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 TCTAGGCTACCTAGCTACTTT 0.463 24 41 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140531962 140531962 + Silent SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140531962G>C uc003lir.2 + 1 2124 c.2124G>C c.(2122-2124)GCG>GCC p.A708A PCDHB6_uc011dah.1_Silent_p.A572A NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 708 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTCGTGGCGGTGCGGCTGT 0.682 16 57 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140744848 140744848 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140744848G>T uc003lju.1 + 1 951 c.951G>T c.(949-951)ATG>ATT p.M317I 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_uc011das.1_Missense_Mutation_p.M317I NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 317 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTACCTCATGGAAGTGGTAG 0.478 10 18 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140756055 140756055 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140756055G>T uc003ljy.1 + 1 2405 c.2405G>T c.(2404-2406)GGA>GTA p.G802V 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_uc011dau.1_Missense_Mutation_p.G802V NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 802 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACGAAAGGAGAACCCAGG 0.478 21 38 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140756056 140756056 + Silent SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140756056A>T uc003ljy.1 + 1 2406 c.2406A>T c.(2404-2406)GGA>GGT p.G802G 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_uc011dau.1_Silent_p.G802G NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 802 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACGAAAGGAGAACCCAGGC 0.483 21 38 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140769650 140769650 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140769650C>T uc003lkc.1 + 1 2199 c.2199C>T c.(2197-2199)TCC>TCT p.S733S 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_uc011dav.1_Silent_p.S733S NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 733 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|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) GTGTTAAATCCGAATCCGTGG 0.527 45 114 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140794536 140794536 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:140794536G>A uc003lkl.1 + 1 1794 c.1794G>A c.(1792-1794)GTG>GTA p.V598V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V598V|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 598 Cadherin 6.|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) TGGTGGCGGTGGACAGAGACT 0.697 13 60 --- --- --- --- PASS HAVCR2 84868 broad.mit.edu 37 5 156533930 156533930 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr5:156533930G>A uc003lwk.1 - 2 246 c.102C>T c.(100-102)GCC>GCT p.A34A HAVCR2_uc003lwl.2_Silent_p.A34A NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 34 Ig-like V-type.|Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGGCAGATAGGCATTCTGAC 0.572 17 68 --- --- --- --- PASS KIF13A 63971 broad.mit.edu 37 6 17781053 17781053 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:17781053G>T uc003ncg.3 - 31 3859 c.3754C>A c.(3754-3756)CTA>ATA p.L1252I KIF13A_uc003ncf.2_Missense_Mutation_p.L1239I|KIF13A_uc003nch.3_Missense_Mutation_p.L1252I|KIF13A_uc003nci.3_Missense_Mutation_p.L1239I|KIF13A_uc003nce.1_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1252 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTCACAATTAGGTAAATCCTT 0.428 6 82 --- --- --- --- PASS KIF13A 63971 broad.mit.edu 37 6 17817326 17817326 + Missense_Mutation SNP T G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:17817326T>G uc003ncg.3 - 17 2030 c.1925A>C c.(1924-1926)CAG>CCG p.Q642P KIF13A_uc003ncf.2_Missense_Mutation_p.Q642P|KIF13A_uc003nch.3_Missense_Mutation_p.Q642P|KIF13A_uc003nci.3_Missense_Mutation_p.Q642P|KIF13A_uc003ncj.2_Missense_Mutation_p.Q318P NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 642 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GCCGCTACTCTGTGGCTGCCT 0.622 6 10 --- --- --- --- PASS CDKAL1 54901 broad.mit.edu 37 6 20955674 20955674 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:20955674C>G uc003ndc.1 + 10 941 c.767C>G c.(766-768)ACC>AGC p.T256S CDKAL1_uc003ndd.1_Missense_Mutation_p.T256S|CDKAL1_uc003nde.1_Missense_Mutation_p.T186S NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 256 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) ATATGGTTGACCAGTGAAGAC 0.458 42 25 --- --- --- --- PASS GPLD1 2822 broad.mit.edu 37 6 24476472 24476472 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:24476472C>A uc003ned.1 - 4 378 c.267G>T c.(265-267)TGG>TGT p.W89C GPLD1_uc010jpr.1_5'UTR|GPLD1_uc010jps.1_Missense_Mutation_p.W89C|GPLD1_uc003nee.2_Missense_Mutation_p.W89C NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 89 extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 GAAACGGAGTCCAGTGAGTGC 0.433 5 6 --- --- --- --- PASS HIST1H2BJ 8970 broad.mit.edu 37 6 27100230 27100230 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:27100230G>A uc003niv.2 - 1 346 c.300C>T c.(298-300)CGC>CGT p.R100R HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.2_5'Flank NM_021058 NP_066402 P06899 H2B1J_HUMAN histone cluster 1, H2bj 100 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding 0 GCAGCAGCAGGCGCACGGCCG 0.592 52 35 --- --- --- --- PASS C6orf222 389384 broad.mit.edu 37 6 36298332 36298332 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:36298332T>C uc003oly.2 - 2 314 c.136A>G c.(136-138)AAG>GAG p.K46E NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 46 skin(2)|ovary(1)|breast(1) 4 TGAAGCGCCTTCCTGGAGGGG 0.652 37 21 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512691 57512691 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:57512691G>T uc003pdx.2 + 15 1606 c.1519G>T c.(1519-1521)GAA>TAA p.E507* NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 507 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTACTTTAGTGAAGATTCTTA 0.333 39 229 --- --- --- --- PASS FUT9 10690 broad.mit.edu 37 6 96651734 96651734 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:96651734A>G uc003pop.3 + 3 1044 c.703A>G c.(703-705)ATA>GTA p.I235V NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 235 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GATTCCTACCATATCTACTTG 0.353 6 26 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112452259 112452259 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:112452259C>T uc003pvu.2 - 29 4188 c.3879G>A c.(3877-3879)ATG>ATA p.M1293I LAMA4_uc003pvv.2_Missense_Mutation_p.M1286I|LAMA4_uc003pvt.2_Missense_Mutation_p.M1286I NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1293 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.M1286I(1) ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCTTTACATCCATGATGACAG 0.453 17 64 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133065475 133065475 + Silent SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:133065475T>C uc003qdt.2 - 7 1538 c.1527A>G c.(1525-1527)TTA>TTG p.L509L VNN2_uc003qds.2_Silent_p.L218L|VNN2_uc010kgb.2_Silent_p.L288L|VNN2_uc003qdv.2_Silent_p.L456L NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 509 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CTATGATCATTAATAATATGA 0.398 13 94 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8167536 8167536 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:8167536G>T uc003srm.2 - 13 1364 c.1297C>A c.(1297-1299)CAA>AAA p.Q433K ICA1_uc010ktr.2_Missense_Mutation_p.Q462K|ICA1_uc003srl.2_Missense_Mutation_p.Q421K|ICA1_uc003srn.3_Missense_Mutation_p.Q359K|ICA1_uc003srp.3_Missense_Mutation_p.Q432K|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.Q433K|ICA1_uc003srr.2_Missense_Mutation_p.Q432K|ICA1_uc003sro.3_Missense_Mutation_p.Q433K NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 433 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TTCATATTTTGGTCTAAAAGC 0.488 7 157 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20682900 20682900 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:20682900C>A uc010kuh.2 + 6 645 c.408C>A c.(406-408)ACC>ACA p.T136T NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 320 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CACGACAGACCAAGAGGATTC 0.423 5 23 --- --- --- --- PASS HIBADH 11112 broad.mit.edu 37 7 27582650 27582650 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:27582650G>T uc003szf.2 - 5 749 c.554C>A c.(553-555)GCC>GAC p.A185D HIBADH_uc003szg.2_Missense_Mutation_p.A136D|HIBADH_uc003szh.2_Missense_Mutation_p.A84D|HIBADH_uc003szi.2_Missense_Mutation_p.A136D NM_152740 NP_689953 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase precursor 185 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity ovary(2) 2 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) CAACTCTTGGGCAGCAGCAAA 0.493 11 38 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35289604 35289604 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:35289604G>T uc011kas.1 - 2 350 c.339C>A c.(337-339)TTC>TTA p.F113L NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 113 T-box. nucleus DNA binding central_nervous_system(1) 1 CCAGCTCATGGAATTTGTCCC 0.582 11 29 --- --- --- --- PASS POU6F2 11281 broad.mit.edu 37 7 39446339 39446339 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:39446339G>T uc003thb.1 + 6 1068 c.1026G>T c.(1024-1026)CAG>CAT p.Q342H NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 342 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CACAAGGACAGGTGAGTGGGA 0.468 15 51 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47968883 47968883 + Silent SNP G A A rs142684649 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:47968883G>A uc003tny.1 - 7 978 c.978C>T c.(976-978)TTC>TTT p.F326F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 326 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AACTGTCCCCGAAATCCATCA 0.512 63 140 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 91974291 91974291 + Splice_Site SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:91974291G>A uc003ulw.2 + 7 1373 c.997_splice c.e7-1 p.C333_splice NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCATCTCCAGTGTGACATTT 0.353 52 153 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100675507 100675507 + Silent SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:100675507T>A uc003uxp.1 + 3 863 c.810T>A c.(808-810)CCT>CCA p.P270P MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 270 Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCAGCTCCTAGTGGAGGAA 0.507 60 123 --- --- --- --- PASS LHFPL3 375612 broad.mit.edu 37 7 103969486 103969486 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:103969486G>T uc003vce.2 + 1 383 c.259G>T c.(259-261)GAG>TAG p.E87* LHFPL3_uc003vcf.2_Nonsense_Mutation_p.E87* NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 73 integral to membrane 0 CTTCTCCCGGGAGCTGACCTG 0.617 4 21 --- --- --- --- PASS RINT1 60561 broad.mit.edu 37 7 105204355 105204355 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:105204355G>T uc003vda.1 + 12 2078 c.1847G>T c.(1846-1848)AGA>ATA p.R616I RINT1_uc010ljj.1_Missense_Mutation_p.R191I NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 616 RINT1/TIP20. cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 CACGTTTTTAGAGAAGTTAAA 0.368 5 43 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107688550 107688550 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:107688550C>G uc010ljo.1 - 28 4213 c.4129G>C c.(4129-4131)GGA>CGA p.G1377R LAMB4_uc003vey.2_Missense_Mutation_p.G1377R|LAMB4_uc010ljp.1_Missense_Mutation_p.G346R NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1377 Domain alpha. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CCTGGATCTCCGCACACCTTG 0.433 10 30 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771754 143771754 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr7:143771754T>C uc011ktx.1 + 1 442 c.442T>C c.(442-444)TGG>CGG p.W148R NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) ATTGACTTCCTGGATTTTAGG 0.458 30 67 --- --- --- --- PASS INTS9 55756 broad.mit.edu 37 8 28695255 28695255 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:28695255G>T uc003xha.2 - 5 599 c.300C>A c.(298-300)CTC>CTA p.L100L INTS9_uc011lav.1_Silent_p.L76L|INTS9_uc011law.1_Silent_p.L79L|INTS9_uc011lax.1_5'UTR|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Silent_p.L100L NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 100 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) AGTTAGAGATGAGAATCACAT 0.468 4 35 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37734976 37734976 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:37734976G>T uc003xkm.1 - 2 509 c.465C>A c.(463-465)GCC>GCA p.A155A RAB11FIP1_uc010lvz.1_Silent_p.A3A|RAB11FIP1_uc003xkn.1_Silent_p.A155A|RAB11FIP1_uc003xkp.1_Silent_p.A3A NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 155 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CAAACATGCTGGCAGTCATGT 0.438 8 190 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39502981 39502981 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:39502981A>T uc003xni.2 + 11 1034 c.1034A>T c.(1033-1035)AAT>ATT p.N345I ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.N321I NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 345 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGCATCATGAATCATGAAGCA 0.303 26 16 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42608341 42608341 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:42608341C>G uc003xpj.2 - 6 1512 c.1466G>C c.(1465-1467)GGG>GCG p.G489A CHRNA6_uc011lcw.1_Missense_Mutation_p.G474A NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 489 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCCTGTGTTCCCAAGTAGTGG 0.383 18 188 --- --- --- --- PASS FNTA 2339 broad.mit.edu 37 8 42924714 42924714 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:42924714C>G uc003xps.2 + 4 466 c.418C>G c.(418-420)CTT>GTT p.L140V FNTA_uc003xpt.2_Missense_Mutation_p.L49V|FNTA_uc003xpu.2_Missense_Mutation_p.L73V|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 140 PFTA 1. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CCGGAGAGTTCTTTTGAAGTC 0.373 13 92 --- --- --- --- PASS PI15 51050 broad.mit.edu 37 8 75757649 75757649 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:75757649C>T uc003yal.2 + 5 737 c.558C>T c.(556-558)TGC>TGT p.C186C uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.C186C NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 186 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) GGATAGGATGCGCAATTCATA 0.428 9 34 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618662 77618662 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:77618662G>C uc003yav.2 + 2 2726 c.2339G>C c.(2338-2340)AGG>ACG p.R780T ZFHX4_uc003yat.1_Missense_Mutation_p.R780T|ZFHX4_uc003yau.1_Missense_Mutation_p.R780T|ZFHX4_uc003yaw.1_Missense_Mutation_p.R780T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 780 C2H2-type 4; degenerate. 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) AATGTCGCCAGGAACCTCCGA 0.493 HNSCC(33;0.089) 13 16 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110457075 110457075 + Silent SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:110457075A>G uc003yne.2 + 38 5081 c.4977A>G c.(4975-4977)CCA>CCG p.P1659P NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1659 IPT/TIG 9.|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) TACTTTTGCCAAACATTGACC 0.433 HNSCC(38;0.096) 18 86 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139268978 139268978 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr8:139268978C>G uc003yuy.2 - 5 493 c.322G>C c.(322-324)GAT>CAT p.D108H FAM135B_uc003yux.2_Missense_Mutation_p.D9H|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 108 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTTGAAAATCTACTTCACTC 0.433 HNSCC(54;0.14) 3 19 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35710609 35710609 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:35710609G>T uc003zxt.2 - 33 4629 c.4275C>A c.(4273-4275)GCC>GCA p.A1425A NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1425 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGTGGAAATGGCATCTCCAA 0.527 4 24 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35720146 35720146 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:35720146T>C uc003zxt.2 - 13 1708 c.1354A>G c.(1354-1356)ATC>GTC p.I452V NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 452 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GAGCGCATGATGGCAGGCAGG 0.592 8 25 --- --- --- --- PASS C9orf85 138241 broad.mit.edu 37 9 74526735 74526735 + Nonsense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:74526735A>T uc004ain.2 + 1 313 c.85A>T c.(85-87)AAA>TAA p.K29* C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank NM_182505 NP_872311 Q96MD7 CI085_HUMAN hypothetical protein LOC138241 29 Lys-rich. 0 CAAGTTCGATAAAAGTGTGCA 0.507 25 58 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79325136 79325136 + Nonsense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:79325136G>C uc010mpk.2 - 8 2178 c.2054C>G c.(2053-2055)TCA>TGA p.S685* NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 685 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CTCTTTCCATGATTCAGGGCT 0.473 7 29 --- --- --- --- PASS AGTPBP1 23287 broad.mit.edu 37 9 88200380 88200380 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:88200380T>A uc011ltd.1 - 22 3196 c.3163A>T c.(3163-3165)AGG>TGG p.R1055W AGTPBP1_uc004aod.3_Missense_Mutation_p.R681W|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.R1015W|AGTPBP1_uc011lte.1_Missense_Mutation_p.R1067W NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1055 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 ATAATTACCCTGTATCCCGTA 0.313 9 52 --- --- --- --- PASS PHF2 5253 broad.mit.edu 37 9 96416756 96416756 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:96416756G>T uc004aub.2 + 7 998 c.851G>T c.(850-852)TGG>TTG p.W284L PHF2_uc011lug.1_Missense_Mutation_p.W167L NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 284 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TATGAGCGCTGGCGGTCTGCC 0.582 5 51 --- --- --- --- PASS PHF2 5253 broad.mit.edu 37 9 96437969 96437969 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:96437969C>T uc004aub.2 + 20 2877 c.2730C>T c.(2728-2730)GTC>GTT p.V910V PHF2_uc011lug.1_Silent_p.V793V|PHF2_uc004auc.2_Silent_p.V330V NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 910 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CAGCAAGGGTCGGCCCATCGG 0.657 11 28 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101747997 101747997 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:101747997C>T uc004azb.1 + 3 457 c.251C>T c.(250-252)CCA>CTA p.P84L COL15A1_uc004aza.2_Missense_Mutation_p.P84L NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 84 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ACTCTCATCCCATCCACCTTC 0.617 5 37 --- --- --- --- PASS HSPA5 3309 broad.mit.edu 37 9 128001220 128001220 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:128001220C>A uc004bpn.2 - 5 1252 c.996G>T c.(994-996)ATG>ATT p.M332I NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 332 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) AGGAACATACCATGTTGAGCT 0.398 Prostate(1;0.17) 5 48 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508523 37508523 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:37508523A>G uc001iza.1 + 34 3814 c.3715A>G c.(3715-3717)ATG>GTG p.M1239V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1295 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACAGTGTCAAATGAAGGAAGC 0.358 7 17 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50723876 50723876 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:50723876G>T uc001jht.2 - 2 1540 c.1285C>A c.(1285-1287)CAT>AAT p.H429N ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.H897N|PGBD3_uc001jhu.2_Missense_Mutation_p.H897N NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 429 pancreas(1)|breast(1)|skin(1) 3 CACAGGGGATGGATACCAGCA 0.428 5 73 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 54048748 54048748 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:54048748G>A uc001jjm.2 + 16 2039 c.1845G>A c.(1843-1845)AAG>AAA p.K615K PRKG1_uc001jjo.2_Silent_p.K630K|PRKG1_uc009xow.1_Silent_p.K333K|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 615 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACATTCAAAAGCACAAGTAAG 0.313 19 51 --- --- --- --- PASS BICC1 80114 broad.mit.edu 37 10 60546717 60546717 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:60546717A>T uc001jki.1 + 5 422 c.422A>T c.(421-423)CAT>CTT p.H141L NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 141 KH 1. multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GATGTTTCACATACAGAACAT 0.363 5 16 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61835211 61835211 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:61835211C>A uc001jky.2 - 37 5620 c.5428G>T c.(5428-5430)GCA>TCA p.A1810S 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 1810 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GAGGTAGTTGCAGATATTGAC 0.423 21 91 --- --- --- --- PASS LRIT2 340745 broad.mit.edu 37 10 85982088 85982088 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:85982088C>A uc001kcy.2 - 3 1249 c.1241G>T c.(1240-1242)GGA>GTA p.G414V LRIT2_uc010qmc.1_Missense_Mutation_p.G424V NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 414 Fibronectin type-III. integral to membrane ovary(2) 2 AGTATTGATTCCGGGGCCAAT 0.552 29 29 --- --- --- --- PASS SLK 9748 broad.mit.edu 37 10 105779491 105779491 + Splice_Site SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:105779491G>T uc001kxo.1 + 16 3167 c.3133_splice c.e16-1 p.E1045_splice SLK_uc001kxp.1_Splice_Site_p.E1014_splice NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AACTTTCATAGGAAACAGAGC 0.358 5 74 --- --- --- --- PASS AFAP1L2 84632 broad.mit.edu 37 10 116060044 116060044 + Missense_Mutation SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:116060044G>C uc001lbn.2 - 15 2167 c.1866C>G c.(1864-1866)ATC>ATG p.I622M AFAP1L2_uc001lbo.2_Missense_Mutation_p.I622M|AFAP1L2_uc010qse.1_Missense_Mutation_p.I675M|AFAP1L2_uc001lbp.2_Missense_Mutation_p.I650M|AFAP1L2_uc001lbr.1_Missense_Mutation_p.I621M|AFAP1L2_uc001lbm.2_Missense_Mutation_p.I61M|AFAP1L2_uc010qsd.1_Missense_Mutation_p.I188M|AFAP1L2_uc001lbq.1_Missense_Mutation_p.I144M NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 622 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GTGGGAAGGAGATTCTCTGCT 0.597 25 39 --- --- --- --- PASS DOCK1 1793 broad.mit.edu 37 10 129237453 129237453 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:129237453C>T uc001ljt.2 + 49 5224 c.5160C>T c.(5158-5160)TCC>TCT p.S1720S DOCK1_uc010qun.1_Silent_p.S1741S|DOCK1_uc009yaq.2_Silent_p.S715S NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1720 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCGACATTTCCCTGCAGCAGT 0.403 8 12 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135027589 135027589 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr10:135027589G>T uc001llz.1 + 26 4641 c.4640G>T c.(4639-4641)TGG>TTG p.W1547L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1547 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTCAGCACCTGGGTGGCTGCA 0.572 14 11 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1031985 1031985 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:1031985C>G uc001lsw.2 - 3 235 c.184G>C c.(184-186)GAC>CAC p.D62H NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 62 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGAGAAGTCGTACACGTGG 0.632 19 33 --- --- --- --- PASS OR52K2 119774 broad.mit.edu 37 11 4471455 4471455 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:4471455G>A uc001lyz.1 + 1 886 c.886G>A c.(886-888)GTC>ATC p.V296I NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 296 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) AATCTATGGTGTCAAGACCAA 0.507 12 45 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068652 5068652 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:5068652G>T uc010qyv.1 + 1 897 c.897G>T c.(895-897)CAG>CAT p.Q299H NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) GGACCAAACAGATTCGAGAAC 0.378 20 38 --- --- --- --- PASS WT1 7490 broad.mit.edu 37 11 32439126 32439126 + Missense_Mutation SNP T G G rs67297380 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:32439126T>G uc001mtn.1 - 4 1143 c.947A>C c.(946-948)AAG>ACG p.K316T WT1_uc001mtl.1_Missense_Mutation_p.K104T|WT1_uc001mtm.1_Missense_Mutation_p.K104T|WT1_uc001mto.1_Missense_Mutation_p.K316T|WT1_uc001mtp.1_Missense_Mutation_p.K316T|WT1_uc001mtq.1_Missense_Mutation_p.K316T|WT1_uc009yjs.1_RNA NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 248 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.E316fs*4(1) EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) ACCTTACCCCTTTAAGGTGGC 0.368 D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 5 37 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49175867 49175867 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:49175867C>T uc001ngy.2 - 16 2062 c.1801G>A c.(1801-1803)GCT>ACT p.A601T FOLH1_uc001ngx.2_Missense_Mutation_p.A33T|FOLH1_uc001ngz.2_Missense_Mutation_p.A601T|FOLH1_uc009yly.2_Missense_Mutation_p.A586T|FOLH1_uc009ylz.2_Missense_Mutation_p.A586T|FOLH1_uc009yma.2_Missense_Mutation_p.A293T NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 601 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAAACTACAGCATAATCTCGA 0.393 11 26 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237681 56237681 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:56237681T>C uc010rjk.1 - 1 293 c.293A>G c.(292-294)CAG>CGG p.Q98R NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 98 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAAGAAACACTGTACTAAACA 0.368 23 53 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62288412 62288412 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:62288412C>T uc001ntl.2 - 5 13777 c.13477G>A c.(13477-13479)GTA>ATA p.V4493I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4493 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCAATGTCTACCTCTGGCCCT 0.448 25 64 --- --- --- --- PASS CDK2AP2 10263 broad.mit.edu 37 11 67275064 67275064 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:67275064T>A uc001oma.2 - 2 728 c.179A>T c.(178-180)CAG>CTG p.Q60L PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Missense_Mutation_p.Q69L NM_005851 NP_005842 O75956 CDKA2_HUMAN cyclin-dependent kinase 2 associated protein 2 60 0 CCCACTCACCTGCACGTAGCC 0.622 12 26 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 89017960 89017960 + Nonsense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:89017960C>T uc001pcs.2 + 4 1286 c.1204C>T c.(1204-1206)CGA>TGA p.R402* NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 402 Lumenal, melanosome (Potential). R -> L (in OCA1A).|R -> G (in OCA1B). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GCAGTGGCTCCGAAGGCACCG 0.373 Oculocutaneous_Albinism 6 11 --- --- --- --- PASS ACAT1 38 broad.mit.edu 37 11 108004595 108004595 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:108004595G>T uc001pjy.2 + 3 245 c.169G>T c.(169-171)GGC>TGC p.G57C ACAT1_uc001pjw.1_Missense_Mutation_p.G57C|ACAT1_uc001pjx.2_Translation_Start_Site NM_000019 NP_000010 P24752 THIL_HUMAN acetyl-Coenzyme A acetyltransferase 1 precursor 57 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding ovary(3) 3 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) ATCTTTTTTAGGCAGCCTTTC 0.418 4 29 --- --- --- --- PASS ALG9 79796 broad.mit.edu 37 11 111706942 111706942 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:111706942G>T uc001pmb.2 - 14 1626 c.1527C>A c.(1525-1527)ACC>ACA p.T509T ALG9_uc001ply.2_Silent_p.T338T|ALG9_uc001plz.2_Silent_p.T345T|ALG9_uc010rwm.1_Silent_p.T516T|ALG9_uc010rwn.1_Silent_p.T463T|ALG9_uc010rwo.1_Silent_p.T337T NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 509 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) GAACAATCCGGGTGGCCAGAG 0.438 5 46 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123811094 123811094 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:123811094C>A uc001pzk.1 + 1 771 c.771C>A c.(769-771)GTC>GTA p.V257V NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCATCTACGTCTATACAAGGC 0.532 25 36 --- --- --- --- PASS TMEM45B 120224 broad.mit.edu 37 11 129722407 129722407 + Silent SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:129722407A>G uc001qfe.1 + 2 91 c.30A>G c.(28-30)CCA>CCG p.P10P TMEM45B_uc001qff.1_Silent_p.P10P NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 10 Helical; (Potential). integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) ACGCGCTTCCAGGGAGTTTCT 0.468 10 26 --- --- --- --- PASS ADAMTS15 170689 broad.mit.edu 37 11 130343024 130343024 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:130343024G>T uc010scd.1 + 8 2161 c.2161G>T c.(2161-2163)GGG>TGG p.G721W NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 721 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGGGCTGATCGGGGATGACAA 0.622 20 16 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134239766 134239766 + Missense_Mutation SNP C A A rs149460505 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr11:134239766C>A uc001qhp.2 + 11 1283 c.1095C>A c.(1093-1095)TTC>TTA p.F365L GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 365 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GAGACTTCTTCGGCTCCATCT 0.537 4 53 --- --- --- --- PASS MFAP5 8076 broad.mit.edu 37 12 8813482 8813482 + Missense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:8813482A>T uc001qut.1 - 3 284 c.71T>A c.(70-72)CTG>CAG p.L24Q MFAP5_uc001qus.2_Missense_Mutation_p.L24Q|MFAP5_uc009zge.1_Missense_Mutation_p.L24Q NM_003480 NP_003471 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 precursor 24 microfibril extracellular matrix structural constituent breast(1) 1 Lung SC(5;0.184) ATTGACCCCCAGGGGTATCCA 0.428 10 61 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9305507 9305507 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:9305507G>T uc001qvl.2 - 31 4063 c.4034C>A c.(4033-4035)TCC>TAC p.S1345Y PZP_uc009zgl.2_Missense_Mutation_p.S1131Y NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 AGCAAATGGGGAGTCCTCTTT 0.443 30 43 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11506883 11506883 + Missense_Mutation SNP G T T rs141106766 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:11506883G>T uc001qzw.1 - 3 191 c.154C>A c.(154-156)CCT>ACT p.P52T PRB1_uc001qzu.1_Missense_Mutation_p.P52T|PRB1_uc001qzv.1_Missense_Mutation_p.P52T NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 52 extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTGGAGGAGGTGGGGGGCCC 0.577 41 130 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15654661 15654661 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:15654661G>A uc001rcv.1 + 5 943 c.769G>A c.(769-771)GAT>AAT p.D257N PTPRO_uc001rcw.1_Missense_Mutation_p.D257N|PTPRO_uc001rcu.1_Missense_Mutation_p.D257N NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 257 Fibronectin type-III 3.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GAGATCACAAGATACAATAGG 0.393 11 33 --- --- --- --- PASS RPS26 6231 broad.mit.edu 37 12 56436328 56436328 + Missense_Mutation SNP T G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:56436328T>G uc001sjf.2 + 2 388 c.123T>G c.(121-123)ATT>ATG p.I41M NM_001029 NP_001020 P62854 RS26_HUMAN ribosomal protein S26 41 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|protein binding|structural constituent of ribosome breast(1) 1 OV - Ovarian serous cystadenocarcinoma(18;0.123) AATTCGTCATTCGAAACATAG 0.557 5 33 --- --- --- --- PASS ATP5B 506 broad.mit.edu 37 12 57033843 57033843 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:57033843G>T uc001slr.2 - 8 1313 c.1208C>A c.(1207-1209)TCC>TAC p.S403Y NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 403 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 ACGAGAGGTGGAGTCTAGAGG 0.522 5 62 --- --- --- --- PASS SLC16A7 9194 broad.mit.edu 37 12 60169075 60169075 + Silent SNP G C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:60169075G>C uc001sqs.2 + 5 1298 c.999G>C c.(997-999)CTG>CTC p.L333L SLC16A7_uc001sqt.2_Silent_p.L333L|SLC16A7_uc001squ.2_Silent_p.L333L|SLC16A7_uc009zqi.2_Silent_p.L234L|SLC16A7_uc010ssi.1_Silent_p.L234L NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 333 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TGTGCCCACTGGCACAGGACT 0.423 14 81 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81624881 81624881 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:81624881G>T uc001szl.1 + 12 1651 c.1560G>T c.(1558-1560)CAG>CAT p.Q520H ACSS3_uc001szm.1_Missense_Mutation_p.Q519H|ACSS3_uc001szn.1_Missense_Mutation_p.Q202H NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 520 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GGAAGAATCAGGAAGCATTCA 0.303 5 18 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81833821 81833821 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:81833821C>A uc001szo.1 - 7 736 c.575G>T c.(574-576)AGG>ATG p.R192M PPFIA2_uc010sue.1_Missense_Mutation_p.R92M|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 118 ovary(3)|lung(2)|pancreas(1) 6 CAGTCGCTCCCTTACCTAGAA 0.398 16 17 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85547831 85547831 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:85547831G>T uc001tac.2 + 23 4790 c.4679G>T c.(4678-4680)AGG>ATG p.R1560M NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1560 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) ATGTTGAAGAGGGCACAGAAA 0.294 3 5 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199109 86199109 + Nonsense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:86199109C>A uc001taf.1 - 2 1018 c.679G>T c.(679-681)GGA>TGA p.G227* NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 227 Potential. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TAGTTTTCTCCATCATTTTCT 0.398 51 56 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97150340 97150340 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:97150340G>T uc001tet.1 + 24 3298 c.3220G>T c.(3220-3222)GGA>TGA p.G1074* NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1074 skin(6)|ovary(1) 7 TCAAAACTCAGGGTAAAAAGA 0.388 9 18 --- --- --- --- PASS POLR3B 55703 broad.mit.edu 37 12 106889912 106889912 + Silent SNP A C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:106889912A>C uc001tlp.2 + 24 3015 c.2793A>C c.(2791-2793)CCA>CCC p.P931P POLR3B_uc001tlq.2_Silent_p.P873P NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 931 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TCATGAACCCACACGGCTTCC 0.488 16 98 --- --- --- --- PASS KSR2 283455 broad.mit.edu 37 12 118199246 118199246 + Nonsense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:118199246C>A uc001two.2 - 4 524 c.469G>T c.(469-471)GAG>TAG p.E157* NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 186 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGGTGGGCTCCGGGGGGCAC 0.637 9 47 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124330532 124330532 + Missense_Mutation SNP G T T rs56096831 by1000genomes TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:124330532G>T uc001uft.3 + 31 5316 c.5291G>T c.(5290-5292)CGA>CTA p.R1764L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1764 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTGGAGGCCCGAGAGTTTGAC 0.557 7 94 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130897317 130897317 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:130897317C>A uc001uil.2 - 15 2832 c.2668G>T c.(2668-2670)GAC>TAC p.D890Y NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 890 SH3 2. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCATCAGCGTCTTTATCACCA 0.448 17 29 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132516566 132516566 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:132516566C>A uc001ujn.2 + 29 5858 c.5823C>A c.(5821-5823)ACC>ACA p.T1941T EP400_uc001ujl.2_Silent_p.T1940T|EP400_uc001ujm.2_Silent_p.T1860T NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1977 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) ACAGCCGTACCACAGGTATAA 0.463 6 126 --- --- --- --- PASS KBTBD6 89890 broad.mit.edu 37 13 41706151 41706151 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr13:41706151C>A uc001uxu.1 - 1 786 c.497G>T c.(496-498)CGA>CTA p.R166L KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.R100L|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 166 protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GTCAAGACGTCGGGCTAAGAA 0.582 25 26 --- --- --- --- PASS KCTD4 386618 broad.mit.edu 37 13 45768460 45768460 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr13:45768460C>G uc001uzx.3 - 2 647 c.243G>C c.(241-243)AGG>AGC p.R81S GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN potassium channel tetramerisation domain 81 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) GGAGACCATCCCTGTCTATGA 0.428 20 41 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103515036 103515036 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr13:103515036G>A uc001vpw.2 + 8 1980 c.1537G>A c.(1537-1539)GCA>ACA p.A513T ERCC5_uc001vpu.1_Missense_Mutation_p.A967T|ERCC5_uc010tjb.1_Missense_Mutation_p.A513T|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A345T NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 513 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACATAGTGACGCACCTGGGCT 0.488 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 5 32 --- --- --- --- PASS OR4L1 122742 broad.mit.edu 37 14 20528227 20528227 + Silent SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr14:20528227A>G uc001vwn.1 + 1 24 c.24A>G c.(22-24)CTA>CTG p.L8L NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATGGATCTCTAGTGACCGAGT 0.338 20 26 --- --- --- --- PASS RALGAPA1 253959 broad.mit.edu 37 14 36159126 36159126 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr14:36159126C>A uc001wti.2 - 17 2741 c.2350G>T c.(2350-2352)GGT>TGT p.G784C RALGAPA1_uc001wtj.2_Missense_Mutation_p.G784C|RALGAPA1_uc010tpv.1_Missense_Mutation_p.G784C|RALGAPA1_uc010tpw.1_Missense_Mutation_p.G831C|RALGAPA1_uc001wtk.1_Missense_Mutation_p.G682C NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 784 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 TTCAAAGCACCAAAAACTTCA 0.408 4 35 --- --- --- --- PASS C14orf28 122525 broad.mit.edu 37 14 45369749 45369749 + Silent SNP T G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr14:45369749T>G uc001wvo.2 + 2 377 c.111T>G c.(109-111)GCT>GCG p.A37A C14orf28_uc001wvp.1_Silent_p.A37A NM_001017923 NP_001017923 Q4W4Y0 CN028_HUMAN hypothetical protein LOC122525 37 ovary(1) 1 CTATCAAAGCTGGCCGCAAAG 0.363 12 27 --- --- --- --- PASS AK7 122481 broad.mit.edu 37 14 96864475 96864475 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr14:96864475G>A uc001yfn.2 + 2 213 c.169G>A c.(169-171)GAT>AAT p.D57N AK7_uc001yfm.1_Missense_Mutation_p.D57N NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 57 Poly-Glu.|Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGAAGAGGAAGATGAAAATAA 0.468 16 77 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921171 24921171 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:24921171C>A uc001ywo.2 + 1 631 c.157C>A c.(157-159)CGG>AGG p.R53R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 53 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) CCTGTTCCGCCGGAACGCCCG 0.756 8 16 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40462841 40462841 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:40462841T>C uc001zkx.3 + 4 555 c.343T>C c.(343-345)TAT>CAT p.Y115H NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 115 BUB1 N-terminal.|Nuclear localization signal (Potential). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AGAAAAACGATATTATAGTGA 0.363 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 12 32 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305912 54305912 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:54305912A>G uc002ack.2 + 1 812 c.812A>G c.(811-813)AAG>AGG p.K271R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 271 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATGCTCTCAAGCACTCCATC 0.453 52 71 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77092589 77092589 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:77092589C>A uc002bby.2 - 6 670 c.611G>T c.(610-612)GGA>GTA p.G204V SCAPER_uc002bbx.2_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.G69V|SCAPER_uc002bca.1_Missense_Mutation_p.G69V|SCAPER_uc002bcb.1_Missense_Mutation_p.G204V|SCAPER_uc002bcc.1_Missense_Mutation_p.G204V NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 203 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 TTCATCTCACCCAAAATTTAA 0.318 11 24 --- --- --- --- PASS PSTPIP1 9051 broad.mit.edu 37 15 77328172 77328172 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:77328172G>A uc002bcf.2 + 14 1465 c.1015G>A c.(1015-1017)GAG>AAG p.E339K PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Missense_Mutation_p.E330K|PSTPIP1_uc002bcg.2_Missense_Mutation_p.E336K|PSTPIP1_uc010bkw.1_Missense_Mutation_p.E320K|PSTPIP1_uc002bch.1_Missense_Mutation_p.E100K|PSTPIP1_uc002bci.1_RNA NM_003978 NP_003969 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting 339 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity ovary(1) 1 CCCCACCCCCGAGCGGAATGA 0.607 6 16 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101933589 101933589 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr15:101933589C>A uc002bwy.2 - 9 1351 c.1037G>T c.(1036-1038)GGG>GTG p.G346V PCSK6_uc010bpd.2_Missense_Mutation_p.G216V|PCSK6_uc010bpe.2_Missense_Mutation_p.G346V|PCSK6_uc002bxa.2_Missense_Mutation_p.G346V|PCSK6_uc002bxb.2_Missense_Mutation_p.G346V|PCSK6_uc002bxc.1_Missense_Mutation_p.G346V|PCSK6_uc002bxd.1_Missense_Mutation_p.G346V|PCSK6_uc002bxe.2_Missense_Mutation_p.G346V|PCSK6_uc002bxg.1_Missense_Mutation_p.G346V NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 346 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) CCCGCCATTCCCAGATGCCCA 0.622 14 16 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2141865 2141865 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:2141865G>A uc002cos.1 - 41 11663 c.11454C>T c.(11452-11454)GGC>GGT p.G3818G PKD1_uc002cot.1_Silent_p.G3817G|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3818 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCTGCACGTAGCCCCCGCTGT 0.711 3 3 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2816580 2816580 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:2816580C>T uc002crk.2 + 11 6600 c.6051C>T c.(6049-6051)CGC>CGT p.R2017R SRRM2_uc002crj.1_Silent_p.R1921R|SRRM2_uc002crl.1_Silent_p.R2017R|SRRM2_uc010bsu.1_Silent_p.R1921R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2017 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CACGCCGCCGCTCTAGGTCCC 0.582 6 29 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20430682 20430682 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:20430682G>A uc002dhe.2 + 4 695 c.548G>A c.(547-549)TGC>TAC p.C183Y ACSM5_uc002dhd.1_Missense_Mutation_p.C183Y NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 183 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 AGTGCCGAATGCCCCTCCCTC 0.592 13 23 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27518417 27518417 + Nonsense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:27518417C>A uc002dov.1 - 9 1343 c.1303G>T c.(1303-1305)GAG>TAG p.E435* GTF3C1_uc002dou.2_Nonsense_Mutation_p.E435* NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 435 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCGCTCTCCTCTGCAAACACG 0.557 10 27 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48142361 48142361 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:48142361C>A uc002efc.1 - 17 2707 c.2361G>T c.(2359-2361)AAG>AAT p.K787N ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 787 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CTCCAGAAGCCTTAATGTACG 0.398 4 31 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53524121 53524121 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:53524121G>A uc002ehi.3 + 22 3447 c.3329G>A c.(3328-3330)AGT>AAT p.S1110N RBL2_uc002ehj.2_Missense_Mutation_p.S820N|RBL2_uc010vgw.1_Missense_Mutation_p.S489N NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1110 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GAAGATGGAAGTGAATCACCT 0.403 7 42 --- --- --- --- PASS DPEP2 64174 broad.mit.edu 37 16 68023977 68023977 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:68023977G>T uc010cey.2 - 7 1131 c.967C>A c.(967-969)CCA>ACA p.P323T DPEP2_uc002evd.3_Missense_Mutation_p.P323T|DPEP2_uc002eve.2_Missense_Mutation_p.P323T|DPEP2_uc002evf.2_RNA NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 323 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TTGGCTGATGGGTTGCACTGT 0.572 6 85 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:7577580T>C uc002gim.2 - 7 895 c.701A>G c.(700-702)TAC>TGC p.Y234C TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 234 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (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.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(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) CATGTAGTTGTAGTGGATGGT 0.572 111 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) 23 10 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21204224 21204224 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:21204224G>A uc002gys.2 + 5 583 c.318G>A c.(316-318)CGG>CGA p.R106R MAP2K3_uc002gyt.2_Silent_p.R77R|MAP2K3_uc002gyu.2_Silent_p.R77R NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 106 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AGCAGAAGCGGCTGCTCATGG 0.582 5 32 --- --- --- --- PASS ACACA 31 broad.mit.edu 37 17 35591902 35591902 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:35591902G>A uc002hnm.2 - 25 3314 c.3123C>T c.(3121-3123)GTC>GTT p.V1041V ACACA_uc002hnk.2_Silent_p.V963V|ACACA_uc002hnl.2_Silent_p.V983V|ACACA_uc002hnn.2_Silent_p.V1041V|ACACA_uc002hno.2_Silent_p.V1078V|ACACA_uc010cuz.2_Silent_p.V1041V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1041 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAAGCATTGTGACCAGAAGAT 0.378 10 38 --- --- --- --- PASS CACNB1 782 broad.mit.edu 37 17 37333659 37333659 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:37333659G>T uc002hrm.1 - 13 1429 c.1276C>A c.(1276-1278)CGC>AGC p.R426S CACNB1_uc002hrl.1_Missense_Mutation_p.R198S|CACNB1_uc002hrn.2_Missense_Mutation_p.R426S|CACNB1_uc002hro.2_Missense_Mutation_p.R471S NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 426 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GCCATGGTGCGGTTCAGCAGC 0.637 3 3 --- --- --- --- PASS ITGB3 3690 broad.mit.edu 37 17 45369758 45369758 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:45369758G>A uc002ilj.2 + 10 1534 c.1514G>A c.(1513-1515)CGC>CAC p.R505H ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 505 I.|Extracellular (Potential).|Cysteine-rich tandem repeats. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) GAGGACTATCGCCCTTCCCAG 0.627 20 27 --- --- --- --- PASS C17orf57 124989 broad.mit.edu 37 17 45447834 45447834 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:45447834A>G uc002iln.2 + 11 1248 c.837A>G c.(835-837)ATA>ATG p.I279M C17orf57_uc002ilm.2_Missense_Mutation_p.I183M|C17orf57_uc002ill.1_Missense_Mutation_p.I35M|C17orf57_uc010daz.1_Missense_Mutation_p.I231M NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 279 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 GGGATATTATATTTACTTTGA 0.299 13 28 --- --- --- --- PASS KCNJ16 3773 broad.mit.edu 37 17 68129006 68129006 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:68129006G>T uc002jin.2 + 5 1264 c.778G>T c.(778-780)GAG>TAG p.E260* KCNJ16_uc002jio.2_Nonsense_Mutation_p.E260*|KCNJ16_uc002jip.2_Nonsense_Mutation_p.E260*|KCNJ16_uc002jiq.2_Nonsense_Mutation_p.E292* NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 260 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) AATTGACCATGAGAGCCCTCT 0.438 6 124 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73736921 73736921 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:73736921G>T uc002jpg.2 + 22 2785 c.2598G>T c.(2596-2598)CAG>CAT p.Q866H ITGB4_uc002jph.2_Missense_Mutation_p.Q866H|ITGB4_uc010dgo.2_Missense_Mutation_p.Q866H|ITGB4_uc002jpi.3_Missense_Mutation_p.Q866H|ITGB4_uc010dgp.1_Missense_Mutation_p.D879Y|ITGB4_uc002jpj.2_Missense_Mutation_p.Q866H NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 866 Cytoplasmic (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) AGCTCCAGCAGACCAAGTTCC 0.682 12 45 --- --- --- --- PASS QRICH2 84074 broad.mit.edu 37 17 74287768 74287768 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:74287768G>T uc002jrd.1 - 4 2722 c.2542C>A c.(2542-2544)CCT>ACT p.P848T QRICH2_uc010wsz.1_Missense_Mutation_p.P774T|QRICH2_uc010dgw.1_Intron NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 848 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 TCTCTGCCAGGAGGTACCATA 0.473 5 64 --- --- --- --- PASS SLC25A10 1468 broad.mit.edu 37 17 79671373 79671373 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr17:79671373G>T uc010wut.1 + 2 299 c.174G>T c.(172-174)AAG>AAT p.K58N MRPL12_uc002kbh.1_Missense_Mutation_p.K58N NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; Error:Variant_position_missing_in_Q9UBX3_after_alignment gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) ACGCCCCCAAGGAGTACCCCC 0.602 7 17 --- --- --- --- PASS NDC80 10403 broad.mit.edu 37 18 2577814 2577814 + Silent SNP G T T rs148077669 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr18:2577814G>T uc002kli.2 + 4 431 c.249G>T c.(247-249)CCG>CCT p.P83P NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 83 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 TCAAGGACCCGAGACCACTTA 0.363 5 76 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21422480 21422480 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr18:21422480G>T uc002kuq.2 + 28 3544 c.3458G>T c.(3457-3459)CGG>CTG p.R1153L LAMA3_uc002kur.2_Missense_Mutation_p.R1153L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1153 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTGGCCACGGGCAGGTGAG 0.607 16 34 --- --- --- --- PASS ZCCHC2 54877 broad.mit.edu 37 18 60223502 60223502 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr18:60223502C>T uc002lip.3 + 6 1380 c.1380C>T c.(1378-1380)TCC>TCT p.S460S ZCCHC2_uc002lio.2_RNA NM_017742 NP_060212 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 460 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding lung(1)|prostate(1) 2 TCTTTCAGTCCATATCATCAG 0.358 9 23 --- --- --- --- PASS LRG1 116844 broad.mit.edu 37 19 4538521 4538521 + Missense_Mutation SNP A C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:4538521A>C uc002mau.2 - 2 486 c.475T>G c.(475-477)TGG>GGG p.W159G PLIN5_uc002mat.1_Intron NM_052972 NP_443204 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 precursor 159 LRR 3. extracellular region|membrane ovary(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGTAGCCACGAGACCTCC 0.652 29 41 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9025609 9025609 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:9025609C>A uc002mkp.2 - 15 37049 c.36845G>T c.(36844-36846)TGC>TTC p.C12282F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12284 SEA 2.|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 GGTCAATCTGCAGCCAGAGTA 0.512 24 63 --- --- --- --- PASS CALR 811 broad.mit.edu 37 19 13051633 13051633 + Nonsense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:13051633G>T uc002mvu.2 + 7 972 c.892G>T c.(892-894)GAG>TAG p.E298* CALR_uc002mvv.2_5'Flank NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 298 P-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGACAACCCCGAGTATTCTCC 0.542 4 56 --- --- --- --- PASS INSL3 3640 broad.mit.edu 37 19 17927797 17927797 + Nonsense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:17927797C>A uc002nhm.1 - 2 267 c.262G>T c.(262-264)GGA>TGA p.G88* INSL3_uc010ebf.1_Missense_Mutation_p.W119C|INSL3_uc010ebg.1_RNA NM_005543 NP_005534 P51460 INSL3_HUMAN insulin-like 3 precursor 88 cell-cell signaling|spermatogenesis soluble fraction hormone activity|insulin receptor binding|signal transducer activity 0 AGGCCAGGTCCCAGCGTGAGA 0.622 8 18 --- --- --- --- PASS SLC5A5 6528 broad.mit.edu 37 19 17983413 17983413 + Silent SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:17983413T>A uc002nhr.3 + 1 632 c.285T>A c.(283-285)CTT>CTA p.L95L NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 95 Helical; (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 TGGGCCAGCTTCTGAACTCGG 0.652 10 4 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19337671 19337671 + Silent SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:19337671C>T uc002nlz.2 + 7 1548 c.1449C>T c.(1447-1449)TTC>TTT p.F483F NCAN_uc010ecc.1_Silent_p.F47F NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 483 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GGGGGCGCTTCAAAGGGTTGA 0.672 17 20 --- --- --- --- PASS ZNF14 7561 broad.mit.edu 37 19 19823162 19823162 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:19823162T>C uc002nnk.1 - 4 1082 c.928A>G c.(928-930)AAA>GAA p.K310E NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 310 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) CCACATTCTTTACATTCATAG 0.378 10 30 --- --- --- --- PASS ZNF431 170959 broad.mit.edu 37 19 21366712 21366712 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:21366712A>G uc002npp.2 + 5 1753 c.1606A>G c.(1606-1608)AGA>GGA p.R536G ZNF431_uc010ecq.2_Missense_Mutation_p.R445G|ZNF431_uc010ecr.2_Missense_Mutation_p.R537G NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 AATTCATACTAGACAGAAACC 0.318 7 59 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154642 22154642 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:22154642G>T uc002nqp.2 - 6 2959 c.2810C>A c.(2809-2811)GCC>GAC p.A937D ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CCAGCTGAAGGCTTTGCCACA 0.463 15 61 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37149214 37149214 + Silent SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:37149214G>A uc002oem.2 - 3 351 c.123C>T c.(121-123)AAC>AAT p.N41N ZNF461_uc002oen.2_Intron|ZNF461_uc010xtj.1_Silent_p.N41N NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTGACACCAAGTTGCTATAAT 0.413 5 15 --- --- --- --- PASS TTC9B 148014 broad.mit.edu 37 19 40722081 40722081 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:40722081C>T uc002onc.2 - 3 727 c.709G>A c.(709-711)GTA>ATA p.V237I NM_152479 NP_689692 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 237 binding 0 CAGCCAATTACATCCCGAGTC 0.557 13 47 --- --- --- --- PASS AKT2 208 broad.mit.edu 37 19 40747908 40747908 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:40747908C>A uc002onf.2 - 6 772 c.510G>T c.(508-510)CGG>CGT p.R170R AKT2_uc010egs.2_Silent_p.R170R|AKT2_uc010egt.2_Silent_p.R108R|AKT2_uc010xvj.1_Silent_p.R108R|AKT2_uc010egu.1_Silent_p.R108R|AKT2_uc010xvk.1_Silent_p.R170R|AKT2_uc002one.2_Silent_p.R66R NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 170 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) TGGCCTTCTCCCGCACCAGGA 0.582 A ovarian|pancreatic 15 25 --- --- --- --- PASS CEACAM16 388551 broad.mit.edu 37 19 45207358 45207358 + Silent SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:45207358T>A uc010xxd.1 + 4 659 c.453T>A c.(451-453)CTT>CTA p.L151L CEACAM16_uc002ozq.2_Silent_p.L210L NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion 151 ovary(1) 1 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CCCTGCGCCTTATGTGCAGCA 0.697 5 6 --- --- --- --- PASS TOMM40 10452 broad.mit.edu 37 19 45396132 45396132 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:45396132C>A uc002ozx.3 + 4 482 c.381C>A c.(379-381)TCC>TCA p.S127S TOMM40_uc002ozy.3_Silent_p.S127S|TOMM40_uc002paa.3_Silent_p.S127S|TOMM40_uc002ozz.2_Silent_p.S127S NM_006114 NP_006105 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 127 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) TCGGGGAGTCCAACTACCACT 0.502 4 37 --- --- --- --- PASS ZNF611 81856 broad.mit.edu 37 19 53209454 53209454 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:53209454T>C uc002pzz.2 - 7 1171 c.854A>G c.(853-855)AAA>AGA p.K285R ZNF611_uc010eqc.2_Missense_Mutation_p.K215R|ZNF611_uc010ydo.1_Missense_Mutation_p.K215R|ZNF611_uc010ydr.1_Missense_Mutation_p.K216R|ZNF611_uc010ydp.1_Missense_Mutation_p.K285R|ZNF611_uc010ydq.1_Missense_Mutation_p.K285R|ZNF611_uc002qaa.3_Missense_Mutation_p.K215R NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CTTGTAAGGTTTCTCAACAGT 0.408 44 72 --- --- --- --- PASS MIR518D 574489 broad.mit.edu 37 19 54238188 54238188 + RNA SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:54238188C>T hsa-mir-518d|MI0003171 + c.58C>T MIR516B1_hsa-mir-516b-1|MI0003172_5'Flank 0 GAAACCAAAGCGCTTCCCTTT 0.438 16 80 --- --- --- --- PASS CACNG8 59283 broad.mit.edu 37 19 54466592 54466592 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:54466592C>A uc002qcs.1 + 1 299 c.193C>A c.(193-195)CCC>ACC p.P65T NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 66 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGACGGGACCCCCCACCGCGG 0.706 5 4 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760477 54760477 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr19:54760477G>T uc002qex.2 - 3 341 c.230C>A c.(229-231)CCT>CAT p.P77H LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P77H|LILRB5_uc002qey.2_Missense_Mutation_p.P77H|LILRB5_uc002qez.2_Missense_Mutation_p.P77H|LILRB5_uc002qfa.1_Missense_Mutation_p.P67H|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 77 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTTGGCTCCAGGCTCCAGTGG 0.612 38 115 --- --- --- --- PASS ATRN 8455 broad.mit.edu 37 20 3578558 3578558 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:3578558C>G uc002wim.2 + 22 3565 c.3475C>G c.(3475-3477)CTT>GTT p.L1159V ATRN_uc002wil.2_Missense_Mutation_p.L1159V NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 1159 Extracellular (Potential). inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 CATAGATACTCTTCTTATTGA 0.328 23 57 --- --- --- --- PASS C20orf30 29058 broad.mit.edu 37 20 5086887 5086887 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:5086887C>A uc002wll.2 - 4 635 c.169G>T c.(169-171)GCC>TCC p.A57S C20orf30_uc010gbi.2_Missense_Mutation_p.A57S|C20orf30_uc002wlk.2_Missense_Mutation_p.A120S|C20orf30_uc002wlm.2_Missense_Mutation_p.A57S|C20orf30_uc002wln.2_Missense_Mutation_p.A57S|C20orf30_uc002wlo.2_Intron NM_001009924 NP_001009924 Q96A57 CT030_HUMAN hypothetical protein LOC29058 isoform 2 57 Helical; (Potential). integral to membrane 0 ATGAGAAAGGCGCCAATCAAA 0.433 21 41 --- --- --- --- PASS ESF1 51575 broad.mit.edu 37 20 13763342 13763342 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:13763342C>T uc002woj.2 - 2 553 c.445G>A c.(445-447)GAT>AAT p.D149N ESF1_uc002wok.1_Missense_Mutation_p.D149N|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank NM_016649 NP_057733 Q9H501 ESF1_HUMAN ABT1-associated protein 149 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm ovary(1) 1 ATGTTTGAATCTATCTTAAAT 0.284 6 21 --- --- --- --- PASS BFSP1 631 broad.mit.edu 37 20 17492636 17492636 + Silent SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:17492636C>A uc002wpo.2 - 4 651 c.612G>T c.(610-612)ACG>ACT p.T204T BFSP1_uc002wpp.2_Silent_p.T79T|BFSP1_uc010zrn.1_Silent_p.T65T|BFSP1_uc010zro.1_Silent_p.T65T NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 204 Rod.|Coil 2. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 TCATCCCACTCGTCACAATGG 0.527 11 33 --- --- --- --- PASS PLCG1 5335 broad.mit.edu 37 20 39791871 39791871 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:39791871G>A uc002xjp.1 + 8 866 c.745G>A c.(745-747)GTG>ATG p.V249M PLCG1_uc002xjo.1_Missense_Mutation_p.V249M|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 249 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GCTTTGCCGAGTGTCCCTTCC 0.602 10 28 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61511762 61511762 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr20:61511762T>A uc002ydr.1 - 16 5810 c.5546A>T c.(5545-5547)CAT>CTT p.H1849L DIDO1_uc002yds.1_Missense_Mutation_p.H1849L NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1849 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTTCTCCCCATGGGGATCCTT 0.607 30 33 --- --- --- --- PASS CLIC6 54102 broad.mit.edu 37 21 36079604 36079604 + Silent SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr21:36079604A>T uc010gmt.1 + 3 1455 c.1455A>T c.(1453-1455)GGA>GGT p.G485G CLIC6_uc002yuf.1_Silent_p.G467G NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 485 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity ovary(1)|central_nervous_system(1) 2 AGAGTATCGGAAATTGCCCGT 0.443 19 29 --- --- --- --- PASS PFKL 5211 broad.mit.edu 37 21 45732984 45732984 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr21:45732984G>T uc002zel.2 + 5 610 c.551G>T c.(550-552)CGC>CTC p.R184L PFKL_uc002zek.2_Missense_Mutation_p.R231L|PFKL_uc011afd.1_Missense_Mutation_p.R231L NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 184 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) GCCCTCCACCGCATCATGGAG 0.667 37 21 --- --- --- --- PASS KRTAP10-4 386672 broad.mit.edu 37 21 45994758 45994758 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr21:45994758G>T uc002zfk.1 + 1 1153 c.1123G>T c.(1123-1125)GTG>TTG p.V375L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 375 36 X 5 AA repeats of C-C-X(3).|35. keratin filament 0 CGCCTGCTGCGTGCCCGTCCC 0.701 22 28 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32487631 32487631 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr22:32487631G>T uc003amc.2 + 11 1394 c.1162G>T c.(1162-1164)GCC>TCC p.A388S SLC5A1_uc011alz.1_Missense_Mutation_p.A261S NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 388 Helical; (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 AGTCATGCTGGCCTCCCTCAT 0.498 25 52 --- --- --- --- PASS MCHR1 2847 broad.mit.edu 37 22 41077580 41077580 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr22:41077580C>T uc003ayz.2 + 2 1185 c.917C>T c.(916-918)TCC>TTC p.S306F MCHR1_uc003aza.2_Missense_Mutation_p.S195F|uc003azb.1_RNA NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 306 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 CGCATGACGTCCTCAGTGGCC 0.602 17 17 --- --- --- --- PASS WNT7B 7477 broad.mit.edu 37 22 46327059 46327059 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr22:46327059G>T uc003bgo.2 - 3 863 c.489C>A c.(487-489)TCC>TCA p.S163S WNT7B_uc010haa.2_Silent_p.S167S NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 163 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CGAAGCGCCGGGAGAAGTCGA 0.652 4 29 --- --- --- --- PASS OFD1 8481 broad.mit.edu 37 X 13774698 13774698 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:13774698T>A uc004cvp.3 + 13 1582 c.1223T>A c.(1222-1224)CTT>CAT p.L408H OFD1_uc004cvr.3_Translation_Start_Site|OFD1_uc011mil.1_Translation_Start_Site|OFD1_uc004cvq.3_Missense_Mutation_p.L268H|OFD1_uc010nen.2_Missense_Mutation_p.L407H|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.L367H|OFD1_uc004cvv.3_Missense_Mutation_p.L367H NM_003611 NP_003602 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 408 Potential. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding 0 GAATTTTAGCTTGAATTAGAG 0.323 19 65 --- --- --- --- PASS MAP3K15 389840 broad.mit.edu 37 X 19398285 19398285 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:19398285T>C uc004czk.1 - 20 2604 c.967A>G c.(967-969)AAG>GAG p.K323E MAP3K15_uc004czj.1_Missense_Mutation_p.K283E NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 848 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) AACGGAGGCTTGCTGGTGGCC 0.512 3 5 --- --- --- --- PASS ZNF645 158506 broad.mit.edu 37 X 22291549 22291549 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:22291549C>A uc004dai.1 + 1 490 c.441C>A c.(439-441)AGC>AGA p.S147R NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 147 intracellular zinc ion binding lung(1)|pancreas(1) 2 AAGTTACCAGCGCTTCGCTTG 0.438 12 46 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27997798 27997798 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:27997798C>A uc004dbx.1 - 1 1769 c.1654G>T c.(1654-1656)GTG>TTG p.V552L NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 552 ovary(3)|skin(1) 4 AGGTGACGCACGAAGAACCGA 0.478 13 50 --- --- --- --- PASS CXorf21 80231 broad.mit.edu 37 X 30577646 30577646 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:30577646A>G uc004dcg.1 - 3 1103 c.827T>C c.(826-828)TTG>TCG p.L276S NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 276 ovary(1) 1 CATCAATTGCAATAGGCGGCT 0.388 11 42 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38146392 38146392 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:38146392C>G uc004ded.1 - 15 2028 c.1860G>C c.(1858-1860)AAG>AAC p.K620N RPGR_uc004deb.2_Missense_Mutation_p.K620N|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 620 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CTGTTttctcctttcttcctc 0.239 18 54 --- --- --- --- PASS EFHC2 80258 broad.mit.edu 37 X 44120491 44120491 + Missense_Mutation SNP A G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:44120491A>G uc004dgb.3 - 5 526 c.436T>C c.(436-438)TTT>CTT p.F146L NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 146 DM10 1. calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 ACAGTATAAAACTGATCCTCA 0.408 10 60 --- --- --- --- PASS ZNF630 57232 broad.mit.edu 37 X 47918465 47918465 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:47918465C>T uc004div.3 - 5 1618 c.1366G>A c.(1366-1368)GAA>AAA p.E456K ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.E332K NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TAAGGTTTTTCTCCTGTATGA 0.448 6 30 --- --- --- --- PASS PAGE1 8712 broad.mit.edu 37 X 49459326 49459326 + Nonsense_Mutation SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:49459326A>T uc004dom.2 - 2 181 c.48T>A c.(46-48)TAT>TAA p.Y16* NM_003785 NP_003776 O75459 GAGB1_HUMAN P antigen family, member 1 16 cellular defense response skin(1) 1 Ovarian(276;0.236) AAGATTCTACATAGATCATTG 0.353 7 44 --- --- --- --- PASS CLCN5 1184 broad.mit.edu 37 X 49840470 49840470 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:49840470G>A uc004dos.1 + 4 474 c.226G>A c.(226-228)GAC>AAC p.D76N CLCN5_uc004dor.1_Missense_Mutation_p.D146N|CLCN5_uc004doq.1_Missense_Mutation_p.D146N|CLCN5_uc004dot.1_Missense_Mutation_p.D76N NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 76 Helical; (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TGGTTTGATAGACATCTCTGC 0.433 12 34 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66766093 66766093 + Missense_Mutation SNP C G G TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:66766093C>G uc004dwu.1 + 1 2220 c.1105C>G c.(1105-1107)CTG>GTG p.L369V AR_uc011mpd.1_Missense_Mutation_p.L369V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.L369V NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 367 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CAACTTTCCACTGGCTCTGGC 0.662 Androgen_Insensitivity_Syndrome 5 11 --- --- --- --- PASS CYSLTR1 10800 broad.mit.edu 37 X 77528442 77528442 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:77528442C>T uc004edb.2 - 3 1202 c.802G>A c.(802-804)GAT>AAT p.D268N CYSLTR1_uc010nma.2_Missense_Mutation_p.D268N|CYSLTR1_uc010nmb.2_Missense_Mutation_p.D268N NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 268 Extracellular (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AGGACAGAATCACAGGGTTTA 0.418 10 47 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128189 83128189 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:83128189C>A uc004eei.1 + 4 494 c.473C>A c.(472-474)GCA>GAA p.A158E CYLC1_uc004eeh.1_Missense_Mutation_p.A157E NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 158 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 CAAAATGAGGCAGATAAAACT 0.338 7 11 --- --- --- --- PASS PABPC5 140886 broad.mit.edu 37 X 90691646 90691646 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:90691646C>T uc004efg.2 + 2 1510 c.1070C>T c.(1069-1071)GCA>GTA p.A357V PABPC5_uc004eff.1_Missense_Mutation_p.A193V NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 357 RRM 4. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 GCTACCAAAGCAGTGGATGAG 0.527 12 21 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100630231 100630231 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:100630231G>T uc004ehg.2 - 2 235 c.42C>A c.(40-42)TCC>TCA p.S14S BTK_uc010nnn.2_Silent_p.S14S|BTK_uc010nno.2_Silent_p.S48S|BTK_uc004ehi.2_Silent_p.S14S NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 14 PH. S -> F (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TTTTCTGTTGGGATCGCTTCA 0.458 Agammaglobulinemia_X-linked 12 98 --- --- --- --- PASS GPRASP1 9737 broad.mit.edu 37 X 101912635 101912635 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:101912635C>A uc004ejj.3 + 5 4595 c.3794C>A c.(3793-3795)ACT>AAT p.T1265N GPRASP1_uc004eji.3_Missense_Mutation_p.T1265N|GPRASP1_uc010nod.2_Missense_Mutation_p.T1265N NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1265 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AGACATCTCACTACTACTACT 0.398 8 66 --- --- --- --- PASS TCEAL3 85012 broad.mit.edu 37 X 102864368 102864368 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:102864368C>A uc004ekq.2 + 3 638 c.376C>A c.(376-378)CAG>AAG p.Q126K TCEAL3_uc004ekr.2_Missense_Mutation_p.Q126K NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CAAGGACTCTCAGGAGGACTT 0.532 11 82 --- --- --- --- PASS ESX1 80712 broad.mit.edu 37 X 103495396 103495396 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:103495396G>A uc004ely.2 - 4 792 c.734C>T c.(733-735)CCT>CTT p.P245L NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 245 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|1. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGGCAGCACAGGTGGTCTAGG 0.368 19 98 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106083927 106083927 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:106083927C>A uc004emo.2 + 10 1697 c.1532C>A c.(1531-1533)CCT>CAT p.P511H MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.P511H NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 511 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 GCTACTAATCCTGACTATTAT 0.388 12 46 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106097494 106097494 + Missense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:106097494C>A uc004emo.2 + 14 2485 c.2320C>A c.(2320-2322)CAG>AAG p.Q774K MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 774 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 GTATGTGATACAGACCCTAGA 0.343 7 47 --- --- --- --- PASS SLC6A14 11254 broad.mit.edu 37 X 115577907 115577907 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:115577907G>T uc004eqi.2 + 7 894 c.790G>T c.(790-792)GTG>TTG p.V264L SLC6A14_uc011mtm.1_RNA NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 264 Helical; Name=5; (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) TTCTTGGTAGGTGGTATATTT 0.323 22 36 --- --- --- --- PASS ZCCHC12 170261 broad.mit.edu 37 X 117959684 117959684 + Silent SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:117959684T>A uc004equ.2 + 4 950 c.477T>A c.(475-477)GCT>GCA p.A159A NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 tccagaacgctattcaggcag 0.124 83 116 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118972475 118972475 + Nonsense_Mutation SNP C A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:118972475C>A uc004erz.1 - 9 939 c.862G>T c.(862-864)GAA>TAA p.E288* UPF3B_uc004esa.1_Nonsense_Mutation_p.E275* NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 288 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TCTCCTTTTTCTGGCTTCTTG 0.323 42 90 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118975200 118975200 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:118975200C>T uc004erz.1 - 7 723 c.646G>A c.(646-648)GAA>AAA p.E216K UPF3B_uc004esa.1_Missense_Mutation_p.E216K NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 216 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 ctcctttcttctctcttttct 0.149 12 98 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118977226 118977226 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:118977226C>T uc004erz.1 - 5 585 c.508G>A c.(508-510)GAT>AAT p.D170N UPF3B_uc004esa.1_Missense_Mutation_p.D170N NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 170 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 TTCTCATTATCTGTGGCATAA 0.308 6 88 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122801009 122801009 + Missense_Mutation SNP C T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:122801009C>T uc004etu.2 - 11 1170 c.1138G>A c.(1138-1140)GCC>ACC p.A380T THOC2_uc011muh.1_Missense_Mutation_p.A301T|THOC2_uc011mui.1_Missense_Mutation_p.A265T NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 380 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATAGCAAGGGCTATTAGCTTG 0.383 11 55 --- --- --- --- PASS CCDC160 347475 broad.mit.edu 37 X 133379769 133379769 + Silent SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:133379769A>T uc011mvj.1 + 2 1260 c.939A>T c.(937-939)TCA>TCT p.S313S NM_001101357 NP_001094827 A6NGH7 CC160_HUMAN coiled-coil domain containing 160 313 skin(1) 1 TGGTAACATCATCAAGTATCC 0.348 4 22 --- --- --- --- PASS ZNF75D 7626 broad.mit.edu 37 X 134421514 134421514 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:134421514T>A uc004eyp.2 - 7 3743 c.1088A>T c.(1087-1089)AAA>ATA p.K363I ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.K142I|ZNF75D_uc004eyo.2_Missense_Mutation_p.K268I NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 363 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTTAAAAGGTTTCTCCCCTGT 0.408 9 35 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135496475 135496475 + Missense_Mutation SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:135496475G>T uc004ezu.1 + 25 9485 c.9194G>T c.(9193-9195)AGC>ATC p.S3065I GPR112_uc010nsb.1_Missense_Mutation_p.S2860I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 3065 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCAGAAATAAGCTTTCCAAAT 0.393 16 102 --- --- --- --- PASS GPR101 83550 broad.mit.edu 37 X 136112439 136112439 + Silent SNP G T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:136112439G>T uc011mwh.1 - 1 1395 c.1395C>A c.(1393-1395)ATC>ATA p.I465I NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 465 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) GCATGTCCTGGATTTCCTTCT 0.507 28 38 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138708792 138708792 + Missense_Mutation SNP T C C TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:138708792T>C uc004fau.2 - 5 856 c.562A>G c.(562-564)ACT>GCT p.T188A MCF2_uc004fav.2_Missense_Mutation_p.T188A|MCF2_uc011mwl.1_Missense_Mutation_p.T149A|MCF2_uc010nsh.1_Missense_Mutation_p.T188A|MCF2_uc011mwm.1_Missense_Mutation_p.T149A|MCF2_uc011mwn.1_Missense_Mutation_p.T333A|MCF2_uc004faw.2_Missense_Mutation_p.T248A|MCF2_uc011mwo.1_Missense_Mutation_p.T248A NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 188 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTATTAATAGTTTGCCAGTCA 0.333 13 107 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139038261 139038261 + Missense_Mutation SNP T A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:139038261T>A uc004fbb.2 - 3 902 c.880A>T c.(880-882)ACT>TCT p.T294S NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 294 Cytoplasmic (Potential). integral to membrane 0 AGGTTTTGAGTGTTTTTCTCC 0.388 10 64 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140969303 140969303 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:140969303G>A uc011mwp.1 + 4 630 c.630G>A c.(628-630)ATG>ATA p.M210I NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 210 MAGE 1. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAGCAGAGATGCAGATGAATG 0.433 21 106 --- --- --- --- PASS SLITRK4 139065 broad.mit.edu 37 X 142718108 142718108 + Missense_Mutation SNP G A A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:142718108G>A uc004fbx.2 - 2 1193 c.817C>T c.(817-819)CGC>TGC p.R273C SLITRK4_uc004fby.2_Missense_Mutation_p.R273C NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 273 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGCAGGATGCGCACGTCAAAA 0.448 13 56 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154185349 154185349 + Silent SNP A T T TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chrX:154185349A>T uc004fmt.2 - 11 1806 c.1635T>A c.(1633-1635)CCT>CCA p.P545P NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 545 F5/8 type A 2.|Plastocyanin-like 3. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCAGGCACCGAGGATCTGATT 0.413 8 81 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 156800697 156800697 + RNA DEL A - - rs66530816 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr3:156800697delA uc003fbc.2 - 4 c.775delT Homo sapiens cDNA, FLJ18260. CTCAGGCAGGAAAAAAAAAAG 0.418 3 6 --- --- --- --- TMEM63B 55362 broad.mit.edu 37 6 44119666 44119666 + Frame_Shift_Del DEL T - - TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr6:44119666delT uc003owr.2 + 19 1821 c.1757delT c.(1756-1758)CTGfs p.L586fs TMEM63B_uc003ows.2_Frame_Shift_Del_p.L489fs|TMEM63B_uc010jyz.2_RNA NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 586 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) ATGGACCTGCTGCGCATCCCA 0.657 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 12 --- --- --- --- Unknown 0 broad.mit.edu 37 9 68410007 68410009 + RNA DEL CCT - - rs111979970 TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:68410007_68410009delCCT uc004aew.1 + 1 c.10_12delCCT Homo sapiens cDNA, FLJ98602. tctctctctccctctggttctat 0.074 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 9 97317410 97317411 + RNA INS - T T rs145410254 by1000genomes TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr9:97317410_97317411insT uc004aus.1 + 1 c.60_61insT uc004aut.1_5'Flank|uc004auu.2_5'Flank Homo sapiens cDNA FLJ41071 fis, clone 3NB692003538. ttttgttgttgttttttttgtt 0.000 4 2 --- --- --- --- MLL2 8085 broad.mit.edu 37 12 49427160 49427160 + Frame_Shift_Del DEL A - - TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr12:49427160delA uc001rta.3 - 39 11328 c.11328delT c.(11326-11328)CTTfs p.L3776fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3776 Gln-rich. 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 TGGGAGGCATAAGGCCCTGGG 0.617 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 2 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 825541 825541 + Frame_Shift_Del DEL C - - TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:825541delC uc002cjz.1 - 5 1220 c.1220delG c.(1219-1221)GGCfs p.G407fs NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane breast(3)|ovary(1) 4 TCTGGACTCGCCGTGGCAGCC 0.697 10 7 --- --- --- --- LOC283922 283922 broad.mit.edu 37 16 74366436 74366436 + Frame_Shift_Del DEL G - - TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx c2b2c909-1461-42ce-8fd9-736147dcacd8 d35d0976-dc9b-48c3-bdb0-016480667eb8 g.chr16:74366436delG uc002fcr.2 - 14 2278 c.932delC c.(931-933)CCTfs p.P311fs LOC283922_uc010vms.1_RNA Homo sapiens cDNA FLJ39449 fis, clone PROST2008360, highly similar to Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 0 ggggaggggaggggaggggag 0.498 4 2 --- --- --- ---