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 pox qox isArtifactMode oxoGCut VPS13D 55187 broad.mit.edu 37 1 12443108 12443108 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:12443108T>G uc001atv.2 + 58 11405 c.11264T>G c.(11263-11265)TTG>TGG p.L3755W VPS13D_uc001atw.2_Missense_Mutation_p.L3730W|VPS13D_uc001atx.2_Missense_Mutation_p.L2942W|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3754 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ATGGAGCTTTTGGGGCCAGTT 0.433 NA 49 102 0 0 0 0 EIF4G3 8672 broad.mit.edu 37 1 21186878 21186878 + Missense_Mutation SNP C C A rs10916883 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:21186878C>A uc001bec.2 - 19 3332 c.3076G>T c.(3076-3078)GGT>TGT p.G1026C EIF4G3_uc010odi.1_Missense_Mutation_p.G630C|EIF4G3_uc010odj.1_Missense_Mutation_p.G1025C|EIF4G3_uc009vpz.2_Missense_Mutation_p.G746C|EIF4G3_uc001bed.2_Missense_Mutation_p.G1026C|EIF4G3_uc001bef.2_Missense_Mutation_p.G1062C|EIF4G3_uc001bee.2_Missense_Mutation_p.G1032C NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1026 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CCGGCCTCACCTGGTCTTCTC 0.393 NA 39 108 2.48e-24 4.79e-24 1 0 KIAA0319L 79932 broad.mit.edu 37 1 35919263 35919264 + Missense_Mutation DNP GC GC CG TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:35919263_35919264GC>CG uc001byx.2 - 12 2065_2066 c.1807_1808GC>CG c.(1807-1809)GCA>CGA p.A603R KIAA0319L_uc001byw.2_Missense_Mutation_p.A40R|KIAA0319L_uc010ohv.1_Missense_Mutation_p.A245R NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 603 PKD 4.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATCTGGGCCTGCATCTGCCTGA 0.475 NA 8 39 0 0 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396789 43396789 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:43396789G>A uc001cik.2 - 3 728 c.203C>T c.(202-204)TCA>TTA p.S68L NM_006516 NP_006507 P11166 GTR1_HUMAN solute carrier family 2 (facilitated glucose 68 Helical; Name=2; (Potential). carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(2)|pancreas(2)|ovary(1) 5 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) GATGGCCACTGAGAGGGACCA 0.592 NA OREG0013425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 55 0 0 0 0 C8A 731 broad.mit.edu 37 1 57378266 57378266 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:57378266T>G uc001cyo.2 + 10 1703 c.1571T>G c.(1570-1572)TTG>TGG p.L524W NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 524 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CTGGGTAGCTTGGGTGCTGCC 0.592 NA 11 82 0 0 0 0 GBP7 388646 broad.mit.edu 37 1 89616203 89616203 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:89616203G>T uc001dna.2 - 6 820 c.681C>A c.(679-681)TTC>TTA p.F227L GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 227 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GTTTTGGAAAGAAATGCCTGA 0.393 NA 37 50 8.74e-17 1.68e-16 1 0 CLK2 1196 broad.mit.edu 37 1 155234561 155234561 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:155234561C>T uc001fjy.2 - 9 1228 c.938G>A c.(937-939)CGA>CAA p.R313Q RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R312Q|CLK2_uc001fjx.2_Missense_Mutation_p.R85Q|CLK2_uc009wqm.2_Missense_Mutation_p.R313Q NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 313 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCGCTCATCTCGCTTCTAGGA 0.507 NA Other_conserved_DNA_damage_response_genes 27 31 0 0 0 0 ETV3L 440695 broad.mit.edu 37 1 157062482 157062482 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:157062482G>C uc001fqq.1 - 5 1330 c.1045C>G c.(1045-1047)CTG>GTG p.L349V NM_001004341 NP_001004341 Q6ZN32 ETV3L_HUMAN ets variant 3-like 349 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(266;0.158) Prostate(1639;0.184) AGGTTCTCCAGATTGGGGGAA 0.562 NA 5 53 0 0 0 0 MNDA 4332 broad.mit.edu 37 1 158817523 158817523 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:158817523C>T uc001fsz.1 + 6 1193 c.993C>T c.(991-993)AGC>AGT p.S331S NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 331 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TGCAGAAAAGCGTACACAAGA 0.368 NA 9 40 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197115515 197115515 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:197115515C>T uc001gtu.2 - 1 310 c.53G>A c.(52-54)CGG>CAG p.R18Q ASPM_uc001gtv.2_Missense_Mutation_p.R18Q|ASPM_uc001gtw.3_5'UTR NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 18 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 gggcggcctccgctcggtcgg 0.154 NA 10 44 0 0 0 0 ELF3 1999 broad.mit.edu 37 1 201981088 201981088 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:201981088A>G uc001gxg.3 + 2 3359 c.167A>G c.(166-168)AAG>AGG p.K56R ELF3_uc001gxi.3_Missense_Mutation_p.K56R|ELF3_uc001gxh.3_Missense_Mutation_p.K56R NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 56 PNT. EK -> GE (in Ref. 7; CAD29859). epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 CTTGCAGAGAAGGCCAGCTGG 0.498 NA 70 110 0 0 0 0 PTPN7 5778 broad.mit.edu 37 1 202121757 202121757 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:202121757G>A uc001gxm.1 - 8 919 c.788C>T c.(787-789)TCA>TTA p.S263L PTPN7_uc001gxl.1_Missense_Mutation_p.S302L|PTPN7_uc001gxn.1_Missense_Mutation_p.S263L|PTPN7_uc010ppv.1_Missense_Mutation_p.S82L|PTPN7_uc010ppw.1_Missense_Mutation_p.S211L|PTPN7_uc010ppx.1_Missense_Mutation_p.S337L|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.S215L NM_002832 NP_002823 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 263 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity skin(1) 1 GGGCCCAGCTGATTCTGGTGT 0.622 NA 23 45 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16911693 16911693 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr10:16911693G>A uc001ioo.2 - 59 9448 c.9396C>T c.(9394-9396)TTC>TTT p.F3132F CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.F488F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3132 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATCTGTCTTGAACACCAGGA 0.453 NA 37 147 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33667250 33667250 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:33667250G>A uc001mup.3 + 16 4679 c.4555G>A c.(4555-4557)GAG>AAG p.E1519K NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1513 integral to membrane ovary(2) 2 TGAAATCATAGAGGAAACCAA 0.463 NA 27 84 0 0 0 0 RASGRP2 10235 broad.mit.edu 37 11 64508539 64508539 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:64508539G>A uc009ypu.2 - 5 479 c.252C>T c.(250-252)TCC>TCT p.S84S RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.S84S|RASGRP2_uc009ypw.2_Silent_p.S84S NM_001098671 NP_001092141 Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 84 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity 0 CTGGGAAGGCGGAGATCCAGT 0.572 NA OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 24 0 0 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64606237 64606237 + Silent SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:64606237T>C uc001obs.3 - 8 1014 c.1014A>G c.(1012-1014)GAA>GAG p.E338E NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 338 AGC-kinase C-terminal. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 AGTCCACGCCTTCGAAGAAAG 0.637 NA 29 66 0 0 0 0 OMP 4975 broad.mit.edu 37 11 76813990 76813990 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr11:76813990C>T uc010rsk.1 + 1 105 c.105C>T c.(103-105)CGC>CGT p.R35R CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 35 sensory perception of smell|synaptic transmission 0 TGAAGCAGCGCGGGGAGAAGC 0.672 NA 17 27 0 0 0 0 CDKN1B 1027 broad.mit.edu 37 12 12870859 12870859 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:12870859G>T uc001rat.2 + 1 558 c.86G>T c.(85-87)TGC>TTC p.C29F NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 29 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CCCTCGGCCTGCAGGAACCTC 0.617 NA Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 37 71 1.91e-15 3.64e-15 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21032551 21032551 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:21032551C>T uc001rek.2 + 10 1443 c.1317C>T c.(1315-1317)ACC>ACT p.T439T SLCO1B3_uc001rel.2_Silent_p.T439T|SLCO1B3_uc010sil.1_Silent_p.T439T|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.T264T NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 439 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CCGGCCTAACCTTGACCTATG 0.313 NA 18 47 0 0 0 0 GYS2 2998 broad.mit.edu 37 12 21693480 21693480 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:21693480C>T uc001rfb.2 - 14 1928 c.1673G>A c.(1672-1674)CGT>CAT p.R558H NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 558 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 ATCTGGAGAACGGAACCGCCT 0.418 NA 16 101 0 0 0 0 CNTN1 1272 broad.mit.edu 37 12 41421672 41421672 + Silent SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:41421672T>A uc001rmm.1 + 22 2837 c.2724T>A c.(2722-2724)CCT>CCA p.P908P CNTN1_uc001rmn.1_Silent_p.P897P NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 908 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTAGCCAGCCTCCAAGGATCA 0.408 NA 20 31 0 0 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54115808 54115808 + Splice_Site SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:54115808C>T uc001sef.2 - 5 753 c.609_splice c.e5+1 p.K203_splice CALCOCO1_uc010som.1_Splice_Site_p.K170_splice|CALCOCO1_uc010son.1_Splice_Site_p.K80_splice|CALCOCO1_uc001seh.2_Splice_Site_p.K203_splice|CALCOCO1_uc009znd.2_Splice_Site_p.K203_splice|CALCOCO1_uc001seg.2_Splice_Site_p.K80_splice|CALCOCO1_uc010soo.1_Splice_Site_p.K196_splice NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CCAGCTCCCACCTTGTACTGT 0.597 NA 8 68 0 0 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54117433 54117433 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:54117433C>T uc001sef.2 - 4 538 c.394G>A c.(394-396)GAG>AAG p.E132K CALCOCO1_uc010som.1_Missense_Mutation_p.E99K|CALCOCO1_uc010son.1_Missense_Mutation_p.E9K|CALCOCO1_uc001seh.2_Missense_Mutation_p.E132K|CALCOCO1_uc009znd.2_Missense_Mutation_p.E132K|CALCOCO1_uc001seg.2_Missense_Mutation_p.E9K|CALCOCO1_uc010soo.1_Missense_Mutation_p.E125K NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 132 N-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CCATCAGCCTCCTCCAGGGTC 0.577 NA 8 66 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72680609 72680609 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:72680609G>A uc001sxa.2 + 2 958 c.928G>A c.(928-930)GTG>ATG p.V310M NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 310 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGAAACTTCCGTGTTTGAGGA 0.403 NA 56 85 0 0 0 0 CIT 11113 broad.mit.edu 37 12 120172977 120172977 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:120172977G>A uc001txi.1 - 24 3071 c.3018C>T c.(3016-3018)ACC>ACT p.T1006T CIT_uc001txh.1_Silent_p.T540T|CIT_uc001txj.1_Silent_p.T1048T NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1006 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTTCTGGCTGGTAAGCTGCA 0.522 NA 16 79 0 0 0 0 CAMKK2 10645 broad.mit.edu 37 12 121691083 121691083 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:121691083G>C uc001tzu.2 - 10 1224 c.1100C>G c.(1099-1101)TCT>TGT p.S367C CAMKK2_uc001tzt.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzv.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzw.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzx.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzy.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzz.1_Missense_Mutation_p.S154C|CAMKK2_uc001uaa.1_Missense_Mutation_p.S367C|CAMKK2_uc001uab.2_Missense_Mutation_p.S367C|CAMKK2_uc001uac.2_Missense_Mutation_p.S367C NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 367 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TACCTTCCCAGAGAAGATCTT 0.433 NA 4 56 0 0 0 0 DNAH10 196385 broad.mit.edu 37 12 124413860 124413860 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr12:124413860G>A uc001uft.3 + 70 12016 c.11991G>A c.(11989-11991)ATG>ATA p.M3997I DNAH10_uc001ufu.3_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3997 AAA 6 (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) AACTCAACATGAGGGCAACTT 0.537 NA 4 16 0 0 0 0 C13orf28 122258 broad.mit.edu 37 13 113030784 113030784 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr13:113030784G>A uc001vsd.1 + 1 116 c.85G>A c.(85-87)GTG>ATG p.V29M NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN hypothetical protein LOC122258 precursor 29 extracellular region 0 all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163) GCCGAGAACCGTGATTCCAGG 0.592 NA 17 10 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20248671 20248671 + Missense_Mutation SNP G G T rs114064896 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:20248671G>T uc010tku.1 + 1 190 c.190G>T c.(190-192)GCT>TCT p.A64S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCCTGTTGGCTAATCTGGC 0.408 NA 28 442 2.61e-14 4.95e-14 1 0 METT11D1 64745 broad.mit.edu 37 14 21464085 21464085 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:21464085C>A uc001vyn.2 + 11 1168 c.971C>A c.(970-972)CCT>CAT p.P324H METT11D1_uc001vym.2_Missense_Mutation_p.P324H|METT11D1_uc001vyo.2_Missense_Mutation_p.P324H|METT11D1_uc001vyp.2_Missense_Mutation_p.P166H|METT11D1_uc001vyq.2_Missense_Mutation_p.P166H NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 324 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) CCTTTGGACCCTCGACCTGGT 0.453 NA 15 454 2e-07 3.69e-07 1 0 NID2 22795 broad.mit.edu 37 14 52481133 52481133 + Silent SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:52481133G>T uc001wzo.2 - 16 3526 c.3292C>A c.(3292-3294)CGG>AGG p.R1098R NID2_uc010tqs.1_Silent_p.R1050R|NID2_uc010tqt.1_Silent_p.R1098R|NID2_uc001wzp.2_Silent_p.R1098R NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1098 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) ACATCTGGCCGGGGCGTGGGC 0.617 NA OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 30 2.38e-13 4.49e-13 1 0 DAAM1 23002 broad.mit.edu 37 14 59791160 59791160 + Nonsense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:59791160C>G uc001xdz.1 + 8 1102 c.977C>G c.(976-978)TCA>TGA p.S326* DAAM1_uc001xea.1_Nonsense_Mutation_p.S326*|DAAM1_uc001xeb.1_Nonsense_Mutation_p.S326* NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 326 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CACGAAAATTCAACATTAGAT 0.308 NA 3 49 0 0 0 0 DCAF4 26094 broad.mit.edu 37 14 73408452 73408452 + Splice_Site SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:73408452G>C uc001xng.2 + 5 572 c.352_splice c.e5-1 p.I118_splice DCAF4_uc001xnj.2_Splice_Site_p.I118_splice|DCAF4_uc010ttr.1_Splice_Site_p.I96_splice|DCAF4_uc001xnh.2_Splice_Site_p.I18_splice|DCAF4_uc010tts.1_Intron|DCAF4_uc010ttt.1_Splice_Site|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Splice_Site_p.I118_splice NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 AATAAATATAGATTGCCAGGA 0.368 NA 39 75 0 0 0 0 OTUB2 78990 broad.mit.edu 37 14 94511065 94511065 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:94511065G>A uc001yci.2 + 5 597 c.437G>A c.(436-438)CGA>CAA p.R146Q NM_023112 NP_075601 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 146 OTU. cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity 0 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) ATCAGGAACCGAGCAGACTTC 0.587 NA 19 25 0 0 0 0 TCL1A 8115 broad.mit.edu 37 14 96178699 96178699 + Missense_Mutation SNP C C T rs146705048 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr14:96178699C>T uc001yfc.3 - 2 285 c.155G>A c.(154-156)CGT>CAT p.R52H TCL1A_uc001yfb.3_Missense_Mutation_p.R52H NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 52 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GTCTTCCCGACGCAAGAGCAC 0.567 NA T TRA@ T-CLL 21 96 0 0 0 0 DUOX1 53905 broad.mit.edu 37 15 45433157 45433157 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:45433157G>A uc001zus.1 + 14 1800 c.1454G>A c.(1453-1455)GGA>GAA p.G485E DUOX1_uc001zut.1_Missense_Mutation_p.G485E|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 485 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTCCCTGGGGGACTCCTGGAG 0.572 NA 27 79 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52632529 52632529 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:52632529C>A uc002aby.2 - 32 4347 c.4103G>T c.(4102-4104)CGT>CTT p.R1368L MYO5A_uc002abx.3_Missense_Mutation_p.R1341L|MYO5A_uc010ugd.1_Missense_Mutation_p.R90L|MYO5A_uc002abz.1_RNA|MYO5A_uc002aca.1_Missense_Mutation_p.R120L|MYO5A_uc002acb.1_Missense_Mutation_p.R93L|MYO5A_uc002acc.1_Missense_Mutation_p.R117L NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1368 Potential. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GATCTCCCCACGGAGGGCCTC 0.637 NA 19 82 5.04e-11 9.44e-11 1 0 HERC1 8925 broad.mit.edu 37 15 63978604 63978604 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:63978604T>C uc002amp.2 - 34 6327 c.6179A>G c.(6178-6180)TAT>TGT p.Y2060C NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2060 B30.2/SPRY. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TGCCAATCCATATCCTTTCCC 0.408 NA 80 143 0 0 0 0 C15orf44 81556 broad.mit.edu 37 15 65888131 65888131 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:65888131C>T uc002apd.2 - 7 1117 c.781G>A c.(781-783)GAT>AAT p.D261N C15orf44_uc010uix.1_Missense_Mutation_p.D297N|C15orf44_uc010uiz.1_Missense_Mutation_p.D225N|C15orf44_uc010uja.1_Missense_Mutation_p.D212N|C15orf44_uc010ujb.1_Missense_Mutation_p.D182N|C15orf44_uc002ape.3_Missense_Mutation_p.D261N|C15orf44_uc010uiy.1_Missense_Mutation_p.D182N NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 261 ovary(1) 1 CTTGAAATATCAGCTATATCA 0.353 NA 7 32 0 0 0 0 MYO9A 4649 broad.mit.edu 37 15 72244166 72244166 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72244166G>A uc002atl.3 - 15 2727 c.2254C>T c.(2254-2256)CAC>TAC p.H752Y MYO9A_uc010biq.2_Missense_Mutation_p.H347Y|MYO9A_uc002atn.1_Missense_Mutation_p.H733Y NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 752 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTCCTCTGGTGGACTGGGTGT 0.373 NA 24 134 0 0 0 0 PKM2 5315 broad.mit.edu 37 15 72509817 72509817 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72509817G>A uc002atx.1 - 3 420 c.179C>T c.(178-180)ACG>ATG p.T60M PKM2_uc010bit.1_Missense_Mutation_p.T65M|PKM2_uc010uki.1_Missense_Mutation_p.T134M|PKM2_uc002atv.1_Missense_Mutation_p.T95M|PKM2_uc002atw.1_Missense_Mutation_p.T60M|PKM2_uc002aty.1_Missense_Mutation_p.T60M|PKM2_uc010ukj.1_Intron|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Missense_Mutation_p.T81M|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 60 glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) CTCCTTCAACGTCTCCACTGA 0.408 NA 13 69 0 0 0 0 ARIH1 25820 broad.mit.edu 37 15 72873104 72873104 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr15:72873104C>G uc002aut.3 + 12 1562 c.1248C>G c.(1246-1248)TTC>TTG p.F416L NM_005744 NP_005735 Q9Y4X5 ARI1_HUMAN ariadne ubiquitin-conjugating enzyme E2 binding 416 ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGTACCTGTTCTACTGTAATC 0.413 NA 7 43 0 0 0 0 TSC2 7249 broad.mit.edu 37 16 2121792 2121792 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:2121792G>C uc002con.2 + 19 2060 c.1954G>C c.(1954-1956)GAG>CAG p.E652Q TSC2_uc010bsd.2_Missense_Mutation_p.E652Q|TSC2_uc002coo.2_Missense_Mutation_p.E652Q|TSC2_uc010uvv.1_Missense_Mutation_p.E615Q|TSC2_uc010uvw.1_Missense_Mutation_p.E603Q|TSC2_uc002cop.2_Missense_Mutation_p.E452Q NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 652 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CAGGGAGCCAGAGAGAGGCTC 0.662 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 3 13 0 0 0 0 TRAF7 84231 broad.mit.edu 37 16 2218133 2218133 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:2218133C>T uc002cow.2 + 4 294 c.195C>T c.(193-195)ACC>ACT p.T65T NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 65 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CCTCCAGCACCCTTGCCTACT 0.672 NA 5 17 0 0 0 0 TAOK2 9344 broad.mit.edu 37 16 30002132 30002132 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:30002132G>A uc002dvc.1 + 18 3256 c.2473G>A c.(2473-2475)GAG>AAG p.E825K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 1 704 Potential. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CCAGGAGGCAGAGTTCCAGGC 0.602 NA 9 54 0 0 0 0 CTCF 10664 broad.mit.edu 37 16 67660529 67660529 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:67660529C>T uc002etl.2 + 8 1719 c.1429C>T c.(1429-1431)CAT>TAT p.H477Y CTCF_uc010cek.2_Missense_Mutation_p.H149Y|CTCF_uc002etm.1_5'Flank NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 477 C2H2-type 8. chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TGCTGTGTTTCATGAGCGCTA 0.463 NA 11 48 0 0 0 0 CDH13 1012 broad.mit.edu 37 16 83159053 83159053 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:83159053C>T uc002fgx.2 + 4 550 c.430C>T c.(430-432)CCC>TCC p.P144S CDH13_uc010chh.2_Missense_Mutation_p.P144S|CDH13_uc010vns.1_Missense_Mutation_p.P191S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 144 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGTGGTATCTCCCATTTTAAT 0.363 NA 14 28 0 0 0 0 FBXO31 79791 broad.mit.edu 37 16 87365041 87365041 + Silent SNP G G A rs141426651 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr16:87365041G>A uc002fjw.2 - 9 1517 c.1473C>T c.(1471-1473)TTC>TTT p.F491F FBXO31_uc010vot.1_Silent_p.F319F|FBXO31_uc002fjv.2_Silent_p.F383F NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 491 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) GGTCCTCATCGAAGAGGATGA 0.612 NA 11 24 0 0 0 0 ASGR1 432 broad.mit.edu 37 17 7077514 7077514 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:7077514G>T uc002ges.3 - 7 947 c.537C>A c.(535-537)GAC>GAA p.D179E ASGR1_uc010clx.1_Missense_Mutation_p.D78E NM_001671 NP_001662 P07306 ASGR1_HUMAN asialoglycoprotein receptor 1 179 Extracellular (Probable).|C-type lectin. receptor-mediated endocytosis integral to plasma membrane asialoglycoprotein receptor activity|metal ion binding|sugar binding breast(1)|central_nervous_system(1) 2 GGCAGTAGTTGTCGGCGTCAG 0.677 NA 42 60 4.44e-20 8.56e-20 1 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:7577141C>T uc002gim.2 - 8 991 c.797G>A c.(796-798)GGA>GAA p.G266E TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 266 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517 111 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) 8 10 0 0 0 0 AURKB 9212 broad.mit.edu 37 17 8108663 8108663 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:8108663C>T uc002gkm.2 - 8 793 c.732G>A c.(730-732)ATG>ATA p.M244I AURKB_uc010cnu.2_Missense_Mutation_p.M64I|AURKB_uc002gkn.2_Missense_Mutation_p.M245I|AURKB_uc010vuu.1_Missense_Mutation_p.M203I|AURKB_uc002gko.2_RNA NM_004217 NP_004208 Q96GD4 AURKB_HUMAN aurora kinase B 244 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(1)|central_nervous_system(1) 4 GCCCCTCAATCATCTCTGGGG 0.562 NA 14 64 0 0 0 0 GOSR1 9527 broad.mit.edu 37 17 28811740 28811740 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:28811740G>C uc002hfe.2 + 4 326 c.300G>C c.(298-300)TTG>TTC p.L100F GOSR1_uc002hfd.2_Missense_Mutation_p.L98F|GOSR1_uc002hff.2_Missense_Mutation_p.L35F|GOSR1_uc002hfc.1_Missense_Mutation_p.L100F NM_004871 NP_004862 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 isoform 1 100 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity 0 TCCCCTCCTTGAATGCAGCCC 0.363 NA 7 44 0 0 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36927374 36927374 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:36927374T>A uc002hqs.2 - 8 1440 c.959A>T c.(958-960)TAT>TTT p.Y320F PIP4K2B_uc010cvp.2_5'Flank NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 320 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 AGGTGTGCCATAGGAGCAGAG 0.448 NA 19 47 0 0 0 0 KRT23 25984 broad.mit.edu 37 17 39086308 39086308 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:39086308C>G uc002hvm.1 - 4 1109 c.520G>C c.(520-522)GAA>CAA p.E174Q KRT23_uc010wfl.1_Missense_Mutation_p.E37Q|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.E174Q|KRT23_uc002hvn.1_Missense_Mutation_p.E174Q NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 174 Rod.|Coil 1B. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) CCCTCGACTTCAATTTCCAAG 0.443 NA 21 95 0 0 0 0 DUSP3 1845 broad.mit.edu 37 17 41847077 41847077 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:41847077A>G uc002ied.3 - 3 534 c.458T>C c.(457-459)ATC>ACC p.I153T DUSP3_uc002iee.3_3'UTR|DUSP3_uc002ief.1_Missense_Mutation_p.I110T NM_004090 NP_004081 P51452 DUS3_HUMAN dual specificity phosphatase 3 153 Tyrosine-protein phosphatase. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|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|immunological synapse|nucleoplasm MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 Breast(137;0.00725) BRCA - Breast invasive adenocarcinoma(366;0.116) CTGCCTCACGATGCTCAGGGC 0.582 NA 9 53 0 0 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626223 44626223 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:44626223G>C uc002ikn.1 + 9 3721 c.3718G>C c.(3718-3720)GAG>CAG p.E1240Q ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.E201Q|LRRC37A2_uc010dax.1_Missense_Mutation_p.E170Q NM_001006607 NP_001006608 A6NM11 L37A2_HUMAN c114 SLIT-like testicular protein precursor 1240 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CTTCACCCAAGAGCATAAGGC 0.592 NA 17 223 0 0 0 0 CCDC46 201134 broad.mit.edu 37 17 63847958 63847958 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:63847958C>G uc002jfl.2 - 21 2577 c.2358G>C c.(2356-2358)AAG>AAC p.K786N CCDC46_uc010deo.2_Missense_Mutation_p.K528N|CCDC46_uc002jfm.2_Missense_Mutation_p.K786N|CCDC46_uc010dep.2_Missense_Mutation_p.K744N NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 786 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) CAGCATGAGTCTTTTTCAGCT 0.373 NA 24 150 0 0 0 0 MRPS7 51081 broad.mit.edu 37 17 73258060 73258060 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr17:73258060C>G uc002jnm.3 + 1 312 c.79C>G c.(79-81)CCA>GCA p.P27A GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_Intron|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.P27A|MRPS7_uc002jnn.3_5'UTR NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 precursor 27 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTTGCAGCTTCCAGGGTGAGA 0.592 NA 10 61 0 0 0 0 DTNA 1837 broad.mit.edu 37 18 32457760 32457760 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:32457760G>C uc010dmn.1 + 18 1901 c.1900G>C c.(1900-1902)GAG>CAG p.E634Q DTNA_uc002kxw.2_Missense_Mutation_p.E577Q|DTNA_uc010dmj.2_Missense_Mutation_p.E574Q|DTNA_uc002kxz.2_Missense_Mutation_p.E581Q|DTNA_uc002kxy.2_Missense_Mutation_p.E574Q|DTNA_uc010xby.1_Missense_Mutation_p.E324Q|DTNA_uc010xbz.1_Missense_Mutation_p.E343Q|DTNA_uc010xca.1_Missense_Mutation_p.E286Q|DTNA_uc002kye.2_Missense_Mutation_p.E282Q NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 634 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 TCTTGTGAAAGAGCTGAATTC 0.423 NA 6 27 0 0 0 0 LIPG 9388 broad.mit.edu 37 18 47107900 47107900 + Silent SNP C C T rs75308718 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:47107900C>T uc002ldv.2 + 6 1161 c.909C>T c.(907-909)TTC>TTT p.F303F LIPG_uc002ldu.1_Silent_p.F303F|LIPG_uc010xdh.1_Silent_p.F229F NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 303 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CCAATCGCTTCAAAAAGGGGA 0.468 NA 17 116 0 0 0 0 WDR7 23335 broad.mit.edu 37 18 54358527 54358527 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr18:54358527C>G uc002lgk.1 + 8 1009 c.798C>G c.(796-798)GTC>GTG p.V266V WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V266V NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 266 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GGGACTTTGTCTCATCAGATA 0.418 NA 35 58 0 0 0 0 NFIC 4782 broad.mit.edu 37 19 3452481 3452481 + Silent SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:3452481G>T uc010xhi.1 + 8 1148 c.1086G>T c.(1084-1086)GGG>GGT p.G362G NFIC_uc002lxo.2_Silent_p.G353G|NFIC_uc010xhh.1_Silent_p.G353G|NFIC_uc002lxp.2_Silent_p.G362G|NFIC_uc010xhj.1_Silent_p.G362G NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 362 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) TCTCCGCAGGGATCGCCCGGA 0.647 NA 52 181 1.46e-29 2.85e-29 1 0 GIPC3 126326 broad.mit.edu 37 19 3586841 3586841 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:3586841G>A uc002lyd.3 + 3 468 c.441G>A c.(439-441)CGG>CGA p.R147R NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 147 PDZ. breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TCATCAACCGGATCGAGGCAG 0.622 NA OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 15 0 0 0 0 SEMA6B 10501 broad.mit.edu 37 19 4552583 4552583 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:4552583C>T uc010duc.1 - 9 878 c.840G>A c.(838-840)AAG>AAA p.K280K SEMA6B_uc010dud.2_Silent_p.K280K|SEMA6B_uc010xih.1_Silent_p.K280K NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 280 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) ACGTCCACTGCTTCTCCAGCA 0.657 NA 10 12 0 0 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964812 7964812 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:7964812C>T uc002mir.2 + 3 1506 c.1405C>T c.(1405-1407)CAC>TAC p.H469Y NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 469 integral to membrane lung(1)|pancreas(1) 2 CAGCTTGCTCCACTCGCCCGC 0.632 NA 9 22 0 0 0 0 UNC13A 23025 broad.mit.edu 37 19 17737530 17737530 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:17737530T>C uc002nhd.2 - 34 4249 c.4249A>G c.(4249-4251)ACA>GCA p.T1417A NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1329 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 ACATTGCCTGTGCCCTTAACC 0.592 NA 8 12 0 0 0 0 KLHL26 55295 broad.mit.edu 37 19 18778789 18778789 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:18778789G>C uc002njz.1 + 3 609 c.582G>C c.(580-582)CAG>CAC p.Q194H NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 194 BACK. ovary(1) 1 ACTTCCTGCAGATCGCCGAGG 0.637 NA 9 50 0 0 0 0 ZNF101 94039 broad.mit.edu 37 19 19790800 19790800 + Silent SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:19790800A>T uc002nni.1 + 4 1112 c.1002A>T c.(1000-1002)GGA>GGT p.G334G ZNF101_uc010ecg.1_Silent_p.G214G|ZNF101_uc002nnj.1_Silent_p.G214G NM_033204 NP_149981 Q8IZC7 ZN101_HUMAN zinc finger protein 101 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTCACACTGGAGAAAGACCTT 0.368 NA 6 31 0 0 0 0 ZNF430 80264 broad.mit.edu 37 19 21239886 21239886 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:21239886G>C uc002npj.2 + 5 882 c.772G>C c.(772-774)GAG>CAG p.E258Q ZNF430_uc002npk.2_Missense_Mutation_p.E257Q NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 TCATACTGGAGAGAAACCCTA 0.368 NA 5 50 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40408042 40408042 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:40408042T>A uc002omp.3 - 9 4687 c.4679A>T c.(4678-4680)GAT>GTT p.D1560V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1560 TIL 3.|Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGCACACCCATCCTGGCACTG 0.617 NA 12 40 0 0 0 0 HIF3A 64344 broad.mit.edu 37 19 46808523 46808523 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:46808523C>G uc002peh.2 + 3 268 c.239C>G c.(238-240)GCA>GGA p.A80G HIF3A_uc002pef.1_Missense_Mutation_p.A80G|HIF3A_uc002peg.3_Missense_Mutation_p.A80G|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.A24G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.A24G|HIF3A_uc010xxy.1_Intron|HIF3A_uc002pel.2_Missense_Mutation_p.A78G|HIF3A_uc010xxz.1_Intron NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CAGGTGGGAGCAGGGGGAGAA 0.617 NA 18 81 0 0 0 0 LENG8 114823 broad.mit.edu 37 19 54968931 54968931 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:54968931G>C uc002qfv.1 + 11 1770 c.1626G>C c.(1624-1626)TTG>TTC p.L542F LENG8_uc002qfw.2_Missense_Mutation_p.L579F Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 542 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) TTCAGGTTTTGAAAAAGTCGC 0.493 NA 11 87 0 0 0 0 ZNF264 9422 broad.mit.edu 37 19 57705330 57705330 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:57705330G>C uc002qob.2 + 2 534 c.121G>C c.(121-123)GAG>CAG p.E41Q NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CCTGTACCAGGAGGTGATGCT 0.557 NA 23 107 0 0 0 0 ZNF418 147686 broad.mit.edu 37 19 58438232 58438232 + Silent SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr19:58438232G>T uc002qqs.1 - 4 1609 c.1317C>A c.(1315-1317)GGC>GGA p.G439G ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.G354G NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 439 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) GAATGAGGTTGCCCTTTCGAC 0.473 NA 41 149 1.59e-14 3.04e-14 1 0 C2orf16 84226 broad.mit.edu 37 2 27803074 27803074 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:27803074C>T uc002rkz.3 + 1 3686 c.3635C>T c.(3634-3636)ACT>ATT p.T1212I ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1212 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) AAGAGTCCTACTTCCACAATA 0.468 NA 20 107 0 0 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209427 44209427 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:44209427C>T uc002rtr.2 - 2 354 c.296G>A c.(295-297)CGC>CAC p.R99H LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.R73H NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 99 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTTGGAATGCGGCCAGTTCT 0.338 NA 9 44 0 0 0 0 XPO1 7514 broad.mit.edu 37 2 61711150 61711150 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:61711150G>A uc002sbj.2 - 21 3327 c.2599C>T c.(2599-2601)CCA>TCA p.P867S XPO1_uc010fcl.2_Missense_Mutation_p.P863S|XPO1_uc010ypn.1_Missense_Mutation_p.P863S|XPO1_uc002sbk.2_Missense_Mutation_p.P428S|XPO1_uc002sbg.2_Missense_Mutation_p.P64S|XPO1_uc002sbh.2_Missense_Mutation_p.P514S NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 867 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGTGTAGGTGGAATAGCAAGG 0.348 NA 13 71 0 0 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993068 96993068 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:96993068G>C uc002svx.2 + 3 1034 c.699G>C c.(697-699)CAG>CAC p.Q233H ITPRIPL1_uc010yuk.1_Missense_Mutation_p.Q225H|ITPRIPL1_uc002svy.2_Missense_Mutation_p.Q241H|ITPRIPL1_uc010yul.1_Missense_Mutation_p.Q225H NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 233 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 ATGAGACCCAGAAATTTGATA 0.612 NA 18 48 0 0 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257054 114257054 + Missense_Mutation SNP T T A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:114257054T>A uc002tjw.3 + 1 394 c.221T>A c.(220-222)ATC>AAC p.I74N NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 74 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CGAGAGCACATCGAGGGCGGC 0.647 NA 19 41 0 0 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122038715 122038715 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:122038715C>T uc002tmx.2 - 2 288 c.195G>A c.(193-195)ACG>ACA p.T65T TFCP2L1_uc010flr.2_Silent_p.T65T NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 65 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) GGTAGGTCAGCGTCTCTTCAT 0.627 NA 12 69 0 0 0 0 DPP4 1803 broad.mit.edu 37 2 162902113 162902113 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:162902113C>G uc002ubz.2 - 5 856 c.295G>C c.(295-297)GGA>CGA p.G99R DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 99 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) ATAGAATGTCCAAACTCATCC 0.343 NA 12 46 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179424503 179424503 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:179424503C>G uc010zfg.1 - 275 78876 c.78652G>C c.(78652-78654)GTC>CTC p.V26218L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V19913L|TTN_uc010zfi.1_Missense_Mutation_p.V19846L|TTN_uc010zfj.1_Missense_Mutation_p.V19721L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27145 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) CTCCACAAGACATTGGGTACT 0.438 NA 38 93 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179456614 179456614 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:179456614G>C uc010zfg.1 - 252 52452 c.52228C>G c.(52228-52230)CCA>GCA p.P17410A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11105A|TTN_uc010zfi.1_Missense_Mutation_p.P11038A|TTN_uc010zfj.1_Missense_Mutation_p.P10913A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18337 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) GGTGGCCCTGGGGGATCTTTT 0.428 NA 3 65 0 0 0 0 DES 1674 broad.mit.edu 37 2 220286275 220286275 + Nonsense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:220286275G>T uc002vll.2 + 6 1323 c.1237G>T c.(1237-1239)GAG>TAG p.E413* NM_001927 NP_001918 P17661 DESM_HUMAN desmin 413 Tail. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAGGGAGAGGAGAGCCGGTG 0.622 NA 14 44 7.93e-07 1.45e-06 1 0 SEL1L2 80343 broad.mit.edu 37 20 13839936 13839936 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr20:13839936A>T uc010gcf.2 - 18 1872 c.1790T>A c.(1789-1791)ATG>AAG p.M597K SEL1L2_uc002woq.3_Missense_Mutation_p.M458K|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 597 Extracellular (Potential).|Sel1-like 11. integral to membrane binding ovary(2) 2 GTGTTCATACATATAAGCCAG 0.413 NA 8 31 0 0 0 0 C21orf63 59271 broad.mit.edu 37 21 33876236 33876236 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:33876236G>A uc002ypr.1 + 7 1270 c.860G>A c.(859-861)GGT>GAT p.G287D C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.G284D|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.G192D|C21orf63_uc011adq.1_5'UTR NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 287 Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 CATGAAACAGGTATAAACTTC 0.458 NA 38 92 0 0 0 0 U2AF1 7307 broad.mit.edu 37 21 44521518 44521518 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:44521518G>A uc002zda.1 - 3 241 c.157C>T c.(157-159)CGT>TGT p.R53C U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_Intron|U2AF1_uc002zdc.1_Missense_Mutation_p.R53C NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 53 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 TGGGGATTACGATAGATGTTT 0.398 NA 79 314 0 0 0 0 AIRE 326 broad.mit.edu 37 21 45709685 45709685 + Silent SNP C C T rs41277550 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr21:45709685C>T uc002zei.2 + 6 925 c.798C>T c.(796-798)CCC>CCT p.P266P AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 266 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) GCGCTGCCCCCGTAAGCACCT 0.682 NA Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 18 34 0 0 0 0 KLHL22 84861 broad.mit.edu 37 22 20800823 20800823 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr22:20800823C>T uc002zsl.1 - 6 1555 c.1446G>A c.(1444-1446)CGG>CGA p.R482R KLHL22_uc011ahr.1_Silent_p.R339R NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 482 Kelch 4. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCCAGGCGCGCCGCACAGGCC 0.602 NA 19 93 0 0 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421243 39421243 + Missense_Mutation SNP A A C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr22:39421243A>C uc011aoe.1 + 3 433 c.379A>C c.(379-381)ACC>CCC p.T127P APOBEC3D_uc011aod.1_Missense_Mutation_p.T127P|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Missense_Mutation_p.T127P|APOBEC3D_uc010gxu.2_Intron NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 127 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) CCCCAATGTCACCCTGACCAT 0.572 NA 13 80 0 0 0 0 CSDC2 27254 broad.mit.edu 37 22 41969737 41969737 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr22:41969737C>T uc003bak.1 + 3 552 c.255C>T c.(253-255)ATC>ATT p.I85I NM_014460 NP_055275 Q9Y534 CSDC2_HUMAN RNA-binding protein pippin 85 CSD. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding 0 ATGGCTTCATCACCCCCGAGA 0.607 NA 11 84 0 0 0 0 ABHD5 51099 broad.mit.edu 37 3 43753250 43753250 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:43753250G>C uc003cmx.2 + 4 666 c.556G>C c.(556-558)GAC>CAC p.D186H NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 186 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TGAACGACCAGACCTTGCTGA 0.453 NA 11 54 0 0 0 0 RHOA 387 broad.mit.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:49412905C>G uc003cwu.2 - 2 394 c.118G>C c.(118-120)GAG>CAG p.E40Q RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 40 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ACATAGTTCTCAAACACTGTG 0.438 NA 24 103 0 0 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426919 111426919 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:111426919G>C uc003dya.2 + 2 896 c.310G>C c.(310-312)GAA>CAA p.E104Q PLCXD2_uc003dyb.2_Missense_Mutation_p.E104Q|PLCXD2_uc003dxz.2_Missense_Mutation_p.E104Q NM_001134478 NP_001127950 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X 104 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(1) 1 GACATTTCGAGAACAGCTGGA 0.522 NA 11 83 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124165030 124165030 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:124165030G>T uc003ehg.2 + 20 3457 c.3330G>T c.(3328-3330)CAG>CAT p.Q1110H KALRN_uc010hrv.1_Missense_Mutation_p.Q1101H|KALRN_uc003ehf.1_Missense_Mutation_p.Q1110H|KALRN_uc011bjy.1_Missense_Mutation_p.Q1101H|KALRN_uc003ehh.1_Missense_Mutation_p.Q456H NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1110 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGCTCCTGCAGAGGGAGAATC 0.577 NA 12 60 2.27e-07 4.18e-07 1 0 ABTB1 80325 broad.mit.edu 37 3 127395886 127395886 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:127395886C>T uc003ejt.2 + 7 691 c.603C>T c.(601-603)CTC>CTT p.L201L ABTB1_uc003ejr.2_Silent_p.L59L|ABTB1_uc003ejs.2_Silent_p.L176L|ABTB1_uc003eju.2_Silent_p.L59L|ABTB1_uc010hsm.2_5'UTR NM_172027 NP_742024 Q969K4 ABTB1_HUMAN ankyrin repeat and BTB (POZ) domain containing 1 201 cytoplasm|nucleolus|plasma membrane translation elongation factor activity 0 GGGACCTGCTCAGCGACCTGG 0.667 NA 12 43 0 0 0 0 ARMC8 25852 broad.mit.edu 37 3 138003316 138003316 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:138003316A>G uc003esa.1 + 20 2094 c.1727A>G c.(1726-1728)AAA>AGA p.K576R TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.K559R|ARMC8_uc011bmg.1_Missense_Mutation_p.K523R|ARMC8_uc011bmh.1_Missense_Mutation_p.K517R|ARMC8_uc003esb.1_Missense_Mutation_p.K548R|ARMC8_uc003esc.1_Missense_Mutation_p.K348R|ARMC8_uc003esf.1_Missense_Mutation_p.K159R NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 590 ARM 13. binding 0 ACAACAGCAAAAGATCTTATT 0.443 NA 77 156 0 0 0 0 RBP2 5948 broad.mit.edu 37 3 139173605 139173605 + Nonsense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:139173605C>T uc003eth.2 - 3 371 c.320G>A c.(319-321)TGG>TAG p.W107* NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 107 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) CCACTGCTTCCAGCCGCGGTT 0.532 NA 31 160 0 0 0 0 GFM1 85476 broad.mit.edu 37 3 158363454 158363454 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:158363454G>A uc003fce.2 + 2 225 c.118G>A c.(118-120)GTG>ATG p.V40M GFM1_uc003fcd.2_Missense_Mutation_p.V40M|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 40 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTCATCAGGGGTGATTCCTAA 0.373 NA 10 49 0 0 0 0 HTR3E 285242 broad.mit.edu 37 3 183824397 183824397 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:183824397C>T uc010hxq.2 + 9 1753 c.1287C>T c.(1285-1287)CAC>CAT p.H429H HTR3E_uc003fml.3_Silent_p.H414H|HTR3E_uc003fmm.2_Silent_p.H444H|HTR3E_uc010hxr.2_Silent_p.H455H|HTR3E_uc003fmn.2_Silent_p.H429H NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 429 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) AGTTCAGCCACGCGATGGACG 0.607 NA 22 97 0 0 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427812 197427812 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr3:197427812C>G uc003fyc.2 - 7 1116 c.933G>C c.(931-933)CAG>CAC p.Q311H KIAA0226_uc003fyd.3_Missense_Mutation_p.Q251H|KIAA0226_uc003fye.1_Missense_Mutation_p.Q18H|KIAA0226_uc003fyf.2_Missense_Mutation_p.Q144H|KIAA0226_uc003fyg.2_Missense_Mutation_p.Q304H NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 311 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GGGAATCATTCTGGCTGCTGA 0.577 NA 9 61 0 0 0 0 ADD1 118 broad.mit.edu 37 4 2877732 2877732 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:2877732G>C uc003gfr.2 + 2 278 c.90G>C c.(88-90)GAG>GAC p.E30D ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.E30D|ADD1_uc003gfo.2_Missense_Mutation_p.E30D|ADD1_uc003gfp.2_Missense_Mutation_p.E30D|ADD1_uc003gfq.2_Missense_Mutation_p.E30D|ADD1_uc003gfs.2_Missense_Mutation_p.E30D|ADD1_uc003gft.3_Missense_Mutation_p.E30D NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 30 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGTAGATGAGAACAACCCAG 0.517 NA 27 98 0 0 0 0 ABLIM2 84448 broad.mit.edu 37 4 8021358 8021358 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:8021358G>C uc003gko.2 - 13 1454 c.1311C>G c.(1309-1311)ATC>ATG p.I437M ABLIM2_uc003gkk.2_Missense_Mutation_p.I100M|ABLIM2_uc003gkl.2_Missense_Mutation_p.I164M|ABLIM2_uc003gkj.3_Missense_Mutation_p.I470M|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.I437M|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 437 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 GCTGTCTGTAGATAGGGGGTT 0.473 NA 13 55 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20541203 20541203 + Missense_Mutation SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:20541203A>G uc003gpr.1 + 19 2176 c.1972A>G c.(1972-1974)ACT>GCT p.T658A SLIT2_uc003gps.1_Missense_Mutation_p.T650A NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 658 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTCTTTATCTACTCTGTAAGT 0.289 NA 9 33 0 0 0 0 KCTD8 386617 broad.mit.edu 37 4 44177085 44177085 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:44177085G>A uc003gwu.2 - 2 1428 c.1144C>T c.(1144-1146)CAC>TAC p.H382Y NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 382 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TTAGGTTGGTGAGCTGTTGCC 0.507 NA HNSCC(17;0.042) 22 140 0 0 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513058 70513058 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:70513058G>A uc003hem.3 - 1 368 c.305C>T c.(304-306)TCA>TTA p.S102L UGT2A1_uc011caq.1_Missense_Mutation_p.S102L|UGT2A1_uc010ihu.2_Missense_Mutation_p.S102L|UGT2A1_uc010iht.2_Missense_Mutation_p.S102L NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 102 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CCAAATGGTTGAAGGAGATGG 0.413 NA 11 60 0 0 0 0 MMRN1 22915 broad.mit.edu 37 4 90857719 90857719 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:90857719T>C uc003hst.2 + 6 2959 c.2888T>C c.(2887-2889)CTA>CCA p.L963P MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L705P NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 963 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAGAAAGGTCTAACAGAATTT 0.378 NA 18 37 0 0 0 0 ALPK1 80216 broad.mit.edu 37 4 113353568 113353568 + Silent SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:113353568G>C uc003iap.3 + 11 3144 c.2865G>C c.(2863-2865)GGG>GGC p.G955G ALPK1_uc003ian.3_Silent_p.G955G|ALPK1_uc011cfx.1_Silent_p.G877G|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.G783G NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 955 Ser-rich. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ATTCCAGTGGGAGTTCTTGGG 0.512 NA 13 68 0 0 0 0 QRFPR 84109 broad.mit.edu 37 4 122257976 122257976 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:122257976C>T uc010inj.1 - 3 926 c.547G>A c.(547-549)GTG>ATG p.V183M QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.V183M NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 183 Helical; Name=4; (Potential). plasma membrane neuropeptide Y receptor activity 0 AGTTGTTGCACGTGCCACATG 0.423 NA 97 223 0 0 0 0 HSPA4L 22824 broad.mit.edu 37 4 128753927 128753927 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:128753927C>G uc003ifm.2 + 19 2671 c.2418C>G c.(2416-2418)CAC>CAG p.H806Q HSPA4L_uc011cgr.1_Missense_Mutation_p.H773Q NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 806 H -> R (in Ref. 1; BAA75063). protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 ATAGTGAACACAATGGCCCAA 0.408 NA 12 61 0 0 0 0 LRBA 987 broad.mit.edu 37 4 151388836 151388836 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:151388836C>T uc010ipj.2 - 45 7276 c.6802G>A c.(6802-6804)GAT>AAT p.D2268N LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Missense_Mutation_p.D158N|LRBA_uc003ilt.3_Missense_Mutation_p.D916N|LRBA_uc003ilu.3_Missense_Mutation_p.D2257N NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2268 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TTGGACAAATCTCTGAAGTTG 0.313 NA 8 54 0 0 0 0 PALLD 23022 broad.mit.edu 37 4 169611844 169611844 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:169611844C>T uc011cjx.1 + 7 1637 c.1426C>T c.(1426-1428)CGG>TGG p.R476W PALLD_uc003iru.2_Missense_Mutation_p.R476W|PALLD_uc003irv.2_Missense_Mutation_p.R94W NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 476 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CCAGTGGTTTCGGCAAGGGAG 0.527 NA Pancreatic_Cancer_Familial_Clustering_of 28 131 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175897744 175897744 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:175897744G>A uc003iuc.2 + 5 1738 c.1068G>A c.(1066-1068)ATG>ATA p.M356I ADAM29_uc003iud.2_Missense_Mutation_p.M356I|ADAM29_uc010irr.2_Missense_Mutation_p.M356I|ADAM29_uc011cki.1_Missense_Mutation_p.M356I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 356 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GATGCATAATGCATGAAGGCA 0.388 NA 19 107 0 0 0 0 CCDC110 256309 broad.mit.edu 37 4 186382220 186382220 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:186382220G>A uc003ixu.3 - 5 407 c.331C>T c.(331-333)CGC>TGC p.R111C CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 111 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTTCAATGCGCGTGCCAAAC 0.338 NA 20 95 0 0 0 0 SORBS2 8470 broad.mit.edu 37 4 186545017 186545017 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr4:186545017C>G uc003iyl.2 - 13 2412 c.1554G>C c.(1552-1554)CAG>CAC p.Q518H SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.Q618H|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.Q422H|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.Q632H|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 518 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATTTGGACTTCTGGATCAGCT 0.562 NA 16 79 0 0 0 0 MTRR 4552 broad.mit.edu 37 5 7885832 7885832 + Nonsense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:7885832C>T uc003jed.2 + 7 1033 c.1003C>T c.(1003-1005)CAG>TAG p.Q335* MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Nonsense_Mutation_p.Q308*|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 335 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTTTTCCTATCAGCCTGGAGA 0.383 NA 10 84 0 0 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139838838 139838838 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:139838838C>G uc003lfs.1 + 9 1694 c.1570C>G c.(1570-1572)CTT>GTT p.L524V ANKHD1_uc003lfq.1_Missense_Mutation_p.L524V|ANKHD1_uc003lfr.2_Missense_Mutation_p.L524V|ANKHD1_uc003lft.1_5'UTR|ANKHD1_uc003lfu.1_5'UTR|ANKHD1_uc003lfp.2_Missense_Mutation_p.L513V|ANKHD1_uc003lfo.2_Missense_Mutation_p.L524V|ANKHD1_uc010jfk.2_Missense_Mutation_p.L524V NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 524 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGACTTTCTTATTAAGGC 0.443 NA 15 60 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580954 140580954 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140580954G>A uc003liy.2 + 1 1607 c.1607G>A c.(1606-1608)CGC>CAC p.R536H PCDHB11_uc011daj.1_Missense_Mutation_p.R171H NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 536 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCACAGACCGCGGCTCCCCG 0.667 NA 48 88 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589638 140589638 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140589638G>A uc003liz.2 + 1 1348 c.1159G>A c.(1159-1161)GAG>AAG p.E387K PCDHB12_uc011dak.1_Missense_Mutation_p.E50K NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 387 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTATCCCGGAGGACATCCC 0.468 NA 12 45 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589962 140589962 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:140589962G>A uc003liz.2 + 1 1672 c.1483G>A c.(1483-1485)GAC>AAC p.D495N PCDHB12_uc011dak.1_Missense_Mutation_p.D158N NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 495 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGTCCCAGGACCCGCACCT 0.662 NA 22 159 0 0 0 0 EBF1 1879 broad.mit.edu 37 5 158524010 158524010 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:158524010G>T uc010jip.2 - 2 565 c.263C>A c.(262-264)GCG>GAG p.A88E EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Missense_Mutation_p.A88E|EBF1_uc003lxl.3_Missense_Mutation_p.A88E NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 88 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCACAAACGCTGTCCTCTC 0.637 NA T HMGA2 lipoma 12 23 1.62e-10 3.02e-10 1 0 GABRB2 2561 broad.mit.edu 37 5 160973365 160973365 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:160973365C>G uc003lys.1 - 3 350 c.132G>C c.(130-132)CTG>CTC p.L44L GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Silent_p.L44L|GABRB2_uc003lyt.1_Silent_p.L44L|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Silent_p.L44L NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 44 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATAGCCTTTCAGGAGTCTAT 0.453 NA 6 35 0 0 0 0 GABRG2 2566 broad.mit.edu 37 5 161531032 161531032 + Nonsense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:161531032G>T uc003lyz.3 + 6 1127 c.769G>T c.(769-771)GGA>TGA p.G257* GABRG2_uc010jjc.2_Nonsense_Mutation_p.G297*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.G257*|GABRG2_uc011dej.1_Nonsense_Mutation_p.G162* NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 257 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GACAACTTCCGGTAAGATGCA 0.383 NA 16 34 2.58e-16 4.94e-16 1 0 DDX41 51428 broad.mit.edu 37 5 176943153 176943153 + Nonsense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:176943153C>A uc003mho.2 - 4 361 c.340G>T c.(340-342)GAG>TAG p.E114* DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 114 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGGATCTTCTCTTCTTCCTTC 0.522 NA 39 205 6.46e-13 1.21e-12 1 0 ZFP2 80108 broad.mit.edu 37 5 178358852 178358852 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr5:178358852C>A uc003mjn.1 + 5 1047 c.538C>A c.(538-540)CAC>AAC p.H180N ZFP2_uc010jky.2_Missense_Mutation_p.H180N|ZFP2_uc010jkx.1_Missense_Mutation_p.H180N NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 180 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TCAACGAACTCACACCGGAGA 0.398 NA 8 37 1.13e-05 2.03e-05 1 0 EHMT2 10919 broad.mit.edu 37 6 31860266 31860266 + Missense_Mutation SNP T T C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:31860266T>C uc003nxz.1 - 7 792 c.782A>G c.(781-783)GAG>GGG p.E261G EHMT2_uc003nxy.1_Missense_Mutation_p.E52G|EHMT2_uc011don.1_Missense_Mutation_p.E318G|EHMT2_uc003nya.1_Missense_Mutation_p.E261G NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 261 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CGTCTCCCACTCCTCCAGGGA 0.547 NA 15 61 0 0 0 0 PSMB8 5696 broad.mit.edu 37 6 32808747 32808747 + Missense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:32808747C>A uc003oce.2 - 6 863 c.820G>T c.(820-822)GCC>TCC p.A274S TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.A270S NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 274 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 TATTGATTGGCTTCCCGGTAC 0.512 NA 16 46 2.23e-06 4.05e-06 1 0 PHF3 23469 broad.mit.edu 37 6 64423243 64423243 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:64423243G>A uc003pep.1 + 15 5785 c.5759G>A c.(5758-5760)CGC>CAC p.R1920H PHF3_uc003pen.2_Missense_Mutation_p.R1832H|PHF3_uc011dxs.1_Missense_Mutation_p.R1189H NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1920 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAAGGGGACCGCCAGAGATTT 0.418 NA 47 81 0 0 0 0 MANEA 79694 broad.mit.edu 37 6 96052716 96052716 + Missense_Mutation SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:96052716T>G uc003poo.1 + 4 808 c.668T>G c.(667-669)ATA>AGA p.I223R NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 223 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) ACTTTTCACATAGAACCATAT 0.224 NA 3 15 0 0 0 0 FIG4 9896 broad.mit.edu 37 6 110112620 110112620 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:110112620C>T uc003ptt.2 + 20 2437 c.2222C>T c.(2221-2223)ACG>ATG p.T741M FIG4_uc011eau.1_Missense_Mutation_p.T464M NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 741 cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CAGCGGAAAACGGCAGCCAGC 0.507 NA 14 127 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129470160 129470160 + Missense_Mutation SNP G G A rs141340479 byFrequency TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr6:129470160G>A uc003qbn.2 + 7 1051 c.946G>A c.(946-948)GAT>AAT p.D316N LAMA2_uc003qbo.2_Missense_Mutation_p.D316N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 316 Laminin EGF-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACATGTGGCGATAGCTGTGA 0.428 NA 16 91 0 0 0 0 HOXA1 3198 broad.mit.edu 37 7 27134145 27134145 + Missense_Mutation SNP C C T rs41311760 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:27134145C>T uc003sye.2 - 2 1016 c.922G>A c.(922-924)GAG>AAG p.E308K HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 308 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 GAGGATTCCTCGGCCTTCTCG 0.597 NA 11 47 0 0 0 0 TARP 445347 broad.mit.edu 37 7 38305106 38305106 + Nonsense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:38305106C>A uc003tge.1 - 5 978 c.601G>T c.(601-603)GAG>TAG p.E201* uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 GTGTTCCCCTCCTGGGATCCC 0.418 NA 41 143 2.48e-24 4.79e-24 1 0 BLVRA 644 broad.mit.edu 37 7 43843400 43843400 + Missense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:43843400G>C uc003tir.2 + 7 669 c.586G>C c.(586-588)GAT>CAT p.D196H BLVRA_uc010kxv.2_Missense_Mutation_p.D196H NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 196 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) GCGAAAGGAAGATCAGTATAT 0.478 NA 28 145 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55233026 55233026 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:55233026C>T uc003tqk.2 + 15 2022 c.1776C>T c.(1774-1776)GTC>GTT p.V592V EGFR_uc003tqi.2_Silent_p.V592V|EGFR_uc003tqj.2_Silent_p.V592V|EGFR_uc010kzg.1_Silent_p.V547V|EGFR_uc011kco.1_Silent_p.V539V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 592 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCCACTGCGTCAAGACCTGCC 0.547 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 23 607 0 0 0 0 SBDS 51119 broad.mit.edu 37 7 66456261 66456261 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:66456261C>G uc003tvm.1 - 4 671 c.487G>C c.(487-489)GAG>CAG p.E163Q NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 163 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 TTCATTTTCTCTTTTAACTGC 0.368 NA Gene Conversion AML|MDS Shwachman-Diamond_syndrome 8 26 0 0 0 0 NSUN5 55695 broad.mit.edu 37 7 72717906 72717906 + Silent SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:72717906G>A uc003txw.2 - 8 1098 c.1062C>T c.(1060-1062)CTC>CTT p.L354L FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.L354L|NSUN5_uc003txx.2_Silent_p.L316L|NSUN5_uc011kev.1_Silent_p.L354L NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 354 methyltransferase activity 0 Lung NSC(55;0.163) TGGAGTAGACGAGCCGCTGCA 0.677 NA 7 19 0 0 0 0 HIP1 3092 broad.mit.edu 37 7 75172176 75172176 + Nonsense_Mutation SNP C C A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:75172176C>A uc003uds.1 - 28 2925 c.2884G>T c.(2884-2886)GAG>TAG p.E962* HIP1_uc011kfz.1_Nonsense_Mutation_p.E788* NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 962 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 CTACCTGTCTCTTCGATCTGT 0.572 NA T PDGFRB CMML 13 49 7.04e-09 1.3e-08 1 0 SLC26A3 1811 broad.mit.edu 37 7 107408304 107408304 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:107408304C>T uc003ver.2 - 19 2323 c.2112G>A c.(2110-2112)GTG>GTA p.V704V SLC26A3_uc003ves.2_Silent_p.V591V NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 704 Helical; (Potential).|STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 TTGAGCTTTTCACTTCACCAT 0.328 NA 11 29 0 0 0 0 SLC4A2 6522 broad.mit.edu 37 7 150772740 150772740 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr7:150772740G>T uc003wit.3 + 21 3605 c.3349G>T c.(3349-3351)GTG>TTG p.V1117L SLC4A2_uc011kve.1_Missense_Mutation_p.V1108L|SLC4A2_uc003wiu.3_Missense_Mutation_p.V1103L|SLC4A2_uc003wiv.3_Missense_Mutation_p.V311L|uc011kvf.1_Intron NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1117 Membrane (anion exchange).|Helical; (Potential). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCCCTGGCCGTGCTCTTTGG 0.607 NA 9 56 5.69e-11 1.06e-10 1 0 MSR1 4481 broad.mit.edu 37 8 16026358 16026358 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:16026358G>A uc003wwz.2 - 4 437 c.239C>T c.(238-240)ACG>ATG p.T80M MSR1_uc010lsu.2_Missense_Mutation_p.T98M|MSR1_uc003wxa.2_Missense_Mutation_p.T80M|MSR1_uc003wxb.2_Missense_Mutation_p.T80M|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 80 Spacer (Probable).|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCAATTCTTCGTTTCCCACTT 0.338 NA 30 40 0 0 0 0 ABRA 137735 broad.mit.edu 37 8 107782160 107782160 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:107782160C>T uc003ymm.3 - 1 313 c.259G>A c.(259-261)GAA>AAA p.E87K NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 87 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CCATGTCCTTCTGGCAGGCGG 0.532 NA 18 124 0 0 0 0 KCNV1 27012 broad.mit.edu 37 8 110986443 110986443 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr8:110986443A>T uc003ynr.3 - 1 517 c.175T>A c.(175-177)TGC>AGC p.C59S KCNV1_uc010mcw.2_Missense_Mutation_p.C59S NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 59 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGCGGGAAGCAGGACAGCGCC 0.711 NA 3 5 0 0 0 0 UNC13B 10497 broad.mit.edu 37 9 35380621 35380621 + Missense_Mutation SNP G G A rs138199360 TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:35380621G>A uc003zwq.2 + 17 2405 c.2113G>A c.(2113-2115)GTC>ATC p.V705I UNC13B_uc003zwr.2_Missense_Mutation_p.V705I NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 705 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CGAGATGGACGTCTGGTACAA 0.493 NA 22 62 0 0 0 0 C9orf3 84909 broad.mit.edu 37 9 97522394 97522394 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:97522394C>T uc004ava.2 + 1 464 c.329C>T c.(328-330)TCT>TTT p.S110F C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.S110F|C9orf3_uc004auy.2_Missense_Mutation_p.S110F|C9orf3_uc004auz.1_Missense_Mutation_p.S110F NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 110 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAAGATACTTCTGATAAAGAT 0.408 NA 29 97 0 0 0 0 SLC31A1 1317 broad.mit.edu 37 9 116022567 116022567 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr9:116022567C>T uc004bgu.2 + 5 573 c.387C>T c.(385-387)AGC>AGT p.S129S FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Silent_p.S129S NM_001859 NP_001850 O15431 COPT1_HUMAN solute carrier family 31 (copper transporters), 129 Cytoplasmic (Potential). integral to plasma membrane copper ion transmembrane transporter activity 0 AGATGCTGAGCTTTCCTCACC 0.498 NA 20 84 0 0 0 0 RAI2 10742 broad.mit.edu 37 X 17819548 17819549 + Missense_Mutation DNP GG GG TT TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:17819548_17819549GG>TT uc004cyf.2 - 3 1152_1153 c.582_583CC>AA c.(580-585)TCCCAG>TCAAAG p.Q195K RAI2_uc004cyg.2_Missense_Mutation_p.Q195K|RAI2_uc010nfa.2_Missense_Mutation_p.Q195K|RAI2_uc004cyh.3_Missense_Mutation_p.Q195K|RAI2_uc011miy.1_Missense_Mutation_p.Q145K NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 195 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) AGAGTGCCCTGGGAGGGAAACA 0.658 NA 9 42 0 0 0 0 CXorf23 256643 broad.mit.edu 37 X 19983783 19983783 + Nonsense_Mutation SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:19983783G>C uc004czp.2 - 3 653 c.653C>G c.(652-654)TCA>TGA p.S218* CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Translation_Start_Site|CXorf23_uc004czo.2_Nonsense_Mutation_p.S168* NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 218 mitochondrion lung(1)|skin(1) 2 AGGTCTTTTTGATGTGTGTCC 0.438 NA 22 101 0 0 0 0 DMD 1756 broad.mit.edu 37 X 31947740 31947740 + Silent SNP G G C TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:31947740G>C uc004dda.1 - 47 7129 c.6885C>G c.(6883-6885)CTC>CTG p.L2295L DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L951L|DMD_uc004dcx.2_Silent_p.L954L|DMD_uc004dcz.2_Silent_p.L2172L|DMD_uc004dcy.1_Silent_p.L2291L|DMD_uc004ddb.1_Silent_p.L2287L|DMD_uc010ngn.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2295 Spectrin 16. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTGTCTGCTTGAGCTTATTTT 0.403 NA 16 84 0 0 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479236 55479236 + Silent SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:55479236A>G uc004dum.2 + 1 699 c.429A>G c.(427-429)AGA>AGG p.R143R NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 143 MAGE. apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TTGTGCGCAGAGGGTACCTGA 0.532 NA 18 60 0 0 0 0 MED12 9968 broad.mit.edu 37 X 70347742 70347742 + Splice_Site SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:70347742G>T uc004dyy.2 + 22 3181 c.2982_splice c.e22-1 p.S994_splice MED12_uc011mpq.1_Splice_Site_p.S994_splice|MED12_uc004dyz.2_Splice_Site_p.S994_splice|MED12_uc004dza.2_Splice_Site_p.S841_splice|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CATCCCTGCAGCGACTTTTGC 0.493 NA 11 24 2.81e-09 5.22e-09 1 0 HDAC8 55869 broad.mit.edu 37 X 71681889 71681889 + Missense_Mutation SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:71681889C>G uc004eau.2 - 9 1012 c.970G>C c.(970-972)GGG>CGG p.G324R HDAC8_uc011mqe.1_Missense_Mutation_p.G181R|HDAC8_uc011mqf.1_Missense_Mutation_p.G129R|HDAC8_uc011mqg.1_Missense_Mutation_p.G233R NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN histone deacetylase 8 324 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding 0 Renal(35;0.156) Vorinostat(DB02546) AGTGTTTTCCCTAGGATGACC 0.463 NA 18 101 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100183244 100183244 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:100183244G>A uc004egn.2 - 1 655 c.50C>T c.(49-51)TCA>TTA p.S17L XKRX_uc011mre.1_5'UTR NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 17 integral to membrane|plasma membrane breast(1) 1 CTCCAGAGATGAAACCGGATC 0.468 NA 67 182 0 0 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267977 103267977 + Missense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:103267977G>A uc004elr.2 - 1 280 c.256C>T c.(256-258)CGC>TGC p.R86C NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 86 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 AGCACCCGGCGGAAATAGGTG 0.622 NA 11 102 0 0 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220797 118220797 + Missense_Mutation SNP G G T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:118220797G>T uc004era.3 - 11 4396 c.4396C>A c.(4396-4398)CTA>ATA p.L1466I NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1466 ovary(4)|skin(1) 5 TGATTGGATAGGTTTGCATGC 0.433 NA 11 80 6.43e-13 1.21e-12 1 0 ENOX2 10495 broad.mit.edu 37 X 129799651 129799651 + Missense_Mutation SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:129799651C>T uc004evw.2 - 10 1485 c.1067G>A c.(1066-1068)CGG>CAG p.R356Q ENOX2_uc004evx.2_Missense_Mutation_p.R327Q|ENOX2_uc004evy.2_Missense_Mutation_p.R327Q|ENOX2_uc004evv.2_Missense_Mutation_p.R183Q NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 356 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 GATGTTCTTCCGCTGGGCTTT 0.483 NA 4 22 0 0 0 0 OR13H1 347468 broad.mit.edu 37 X 130678614 130678614 + Silent SNP T T G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:130678614T>G uc011muw.1 + 1 567 c.567T>G c.(565-567)TCT>TCG p.S189S IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Acute lymphoblastic leukemia(192;0.000636) TGACCTGTTCTGATACCAGCC 0.463 NA 49 246 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135431895 135431895 + Silent SNP C C G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:135431895C>G uc004ezu.1 + 6 6321 c.6030C>G c.(6028-6030)CTC>CTG p.L2010L GPR112_uc010nsb.1_Silent_p.L1805L|GPR112_uc010nsc.1_Silent_p.L1777L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2010 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TGACATGGCTCTTATCTAGTC 0.453 NA 19 138 0 0 0 0 ZIC3 7547 broad.mit.edu 37 X 136649666 136649666 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:136649666C>T uc004fak.2 + 1 1321 c.816C>T c.(814-816)TTC>TTT p.F272F NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 272 C2H2-type 1; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) ACCGGACCTTCAGCACCATGC 0.612 NA 9 94 0 0 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967283 142967283 + Silent SNP A A G TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:142967283A>G uc004fca.2 + 1 111 c.81A>G c.(79-81)CCA>CCG p.P27P NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 27 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGCAGAACCAGATGAAAGCA 0.512 NA 44 111 0 0 0 0 CD99L2 83692 broad.mit.edu 37 X 149963727 149963727 + Nonsense_Mutation SNP G G A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:149963727G>A uc004fel.2 - 6 500 c.382C>T c.(382-384)CGA>TGA p.R128* CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Nonsense_Mutation_p.R79*|CD99L2_uc004fen.2_Nonsense_Mutation_p.R56*|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 128 Extracellular (Potential). R -> Q (in Ref. 4; BAG54124). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGATCATTTCGATCATCCAGG 0.448 NA 32 205 0 0 0 0 FAM3A 60343 broad.mit.edu 37 X 153736911 153736911 + Missense_Mutation SNP A A T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:153736911A>T uc004fls.1 - 4 446 c.169T>A c.(169-171)TAC>AAC p.Y57N FAM3A_uc004flt.1_Missense_Mutation_p.Y71N|FAM3A_uc011mzp.1_Missense_Mutation_p.Y57N|FAM3A_uc004flu.1_Missense_Mutation_p.Y71N|FAM3A_uc011mzq.1_Missense_Mutation_p.Y57N|FAM3A_uc004flw.1_Missense_Mutation_p.Y57N NM_021806 NP_068578 P98173 FAM3A_HUMAN family 3, member A protein precursor 57 extracellular region large_intestine(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCACACTTGTACTTCCTGGCC 0.647 NA 6 11 0 0 0 0 MPP1 4354 broad.mit.edu 37 X 154033634 154033634 + Silent SNP C C T TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:154033634C>T uc004fmp.1 - 1 130 c.15G>A c.(13-15)GCG>GCA p.A5A MPP1_uc010nvg.1_Silent_p.A5A|MPP1_uc011mzv.1_5'UTR|MPP1_uc004fmq.1_5'UTR|MPP1_uc011mzw.1_Silent_p.A5A|MPP1_uc010nvh.1_Silent_p.A5A NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 5 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) CGCCCTCGCTCGCCTTGAGGG 0.672 NA 4 25 0 0 0 0 SYDE2 84144 broad.mit.edu 37 1 85656306 85656307 + Frame_Shift_Ins INS - - A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr1:85656306_85656307insA uc009wcm.2 - 2 923_924 c.874_875insT c.(874-876)TATfs p.Y292fs SYDE2_uc001dku.3_Frame_Shift_Ins_p.Y292fs NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 292 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) AGTACTCTGATATAGCCAATTG 0.381 NA 58 127 --- --- --- --- NA NA NA NA TANC1 85461 broad.mit.edu 37 2 160085398 160085399 + Frame_Shift_Ins INS - - A TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chr2:160085398_160085399insA uc002uag.2 + 26 4416_4417 c.4142_4143insA c.(4141-4143)AGAfs p.R1381fs TANC1_uc010zcm.1_Frame_Shift_Ins_p.R1373fs|TANC1_uc010fon.2_Frame_Shift_Ins_p.R225fs NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1381 TPR 3. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AGAGCGAAGAGAAATAGCAGGT 0.47 NA 40 96 --- --- --- --- NA NA NA NA MAGEA3 4102 broad.mit.edu 37 X 151935346 151935346 + Frame_Shift_Del DEL C C - TCGA-CV-7102-01A-11D-2012-08 TCGA-CV-7102-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq eda5514f-3aa1-447c-ad07-55ec307c26e3 ef91ddf9-e769-44cd-9991-37dae71bc012 g.chrX:151935346delC uc004fgp.2 - 3 1030 c.821delG c.(820-822)GGTfs p.G274fs NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 274 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTTGGACCCCACAGGAA 0.532 NA 36 253 --- --- --- --- NA NA NA NA