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 FUCA1 2517 broad.mit.edu 37 1 24189688 24189688 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:24189688C>T uc001bie.2 - 3 643 c.598G>A c.(598-600)GGC>AGC p.G200S FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 200 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) GTTTTGAAGCCATTTTTCTTA 0.388 FUCA1 2517 broad.mit.edu 37 1 24189727 24189727 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:24189727C>T uc001bie.2 - 3 604 c.559G>A c.(559-561)GAG>AAG p.E187K FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 187 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) TGGAACCACTCTAAGAGTGAG 0.358 LRRC41 10489 broad.mit.edu 37 1 46745257 46745257 + Missense_Mutation SNP C G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:46745257C>G uc001cpn.2 - 8 2094 c.2050G>C c.(2050-2052)GAG>CAG p.E684Q LRRC41_uc010omb.1_Missense_Mutation_p.E684Q NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 684 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) GGGCGCTTCTCAAACAGACGG 0.552 IFI16 3428 broad.mit.edu 37 1 158986412 158986412 + Silent SNP C G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:158986412C>G uc001ftf.1 + 5 1078 c.471C>G c.(469-471)GCC>GCG p.A157A IFI16_uc001ftg.2_Silent_p.A157A|IFI16_uc010pis.1_Intron NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 157 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) CTGCAGGAGCCGGCATGTCCA 0.522 NR5A2 2494 broad.mit.edu 37 1 200017711 200017711 + Missense_Mutation SNP G C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:200017711G>C uc001gvb.2 + 5 1081 c.875G>C c.(874-876)AGT>ACT p.S292T NR5A2_uc001gvc.2_Missense_Mutation_p.S246T|NR5A2_uc009wzh.2_Missense_Mutation_p.S252T|NR5A2_uc010pph.1_Missense_Mutation_p.S220T NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 292 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) TATATGGATAGTTACCAGACG 0.488 OR2T3 343173 broad.mit.edu 37 1 248637231 248637231 + Missense_Mutation SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:248637231T>C uc001iel.1 + 1 580 c.580T>C c.(580-582)TGC>CGC p.C194R NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAAGCTCTCCTGCTCTGACGT 0.517 OR5AR1 219493 broad.mit.edu 37 11 56431364 56431364 + Missense_Mutation SNP T G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:56431364T>G uc010rjm.1 + 1 203 c.203T>G c.(202-204)TTT>TGT p.F68C NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AACCTCTCCTTTGTTGACCTG 0.463 OSBP 5007 broad.mit.edu 37 11 59376014 59376014 + Silent SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:59376014G>A uc001noc.1 - 3 1245 c.765C>T c.(763-765)ATC>ATT p.I255I NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 255 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGACCTGTTTGATCTTTTCAT 0.478 CTSF 8722 broad.mit.edu 37 11 66333870 66333870 + Missense_Mutation SNP G C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:66333870G>C uc001oip.2 - 5 703 c.613C>G c.(613-615)CGG>GGG p.R205G NM_003793 NP_003784 Q9UBX1 CATF_HUMAN cathepsin F precursor 205 proteolysis lysosome cysteine-type endopeptidase activity 0 AGGCGCCACCGGGCTTCTGAG 0.587 WNT11 7481 broad.mit.edu 37 11 75907584 75907584 + Missense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:75907584G>A uc001oxe.2 - 2 385 c.262C>T c.(262-264)CGC>TGC p.R88C WNT11_uc001oxf.1_Missense_Mutation_p.R88C NM_004626 NP_004617 O96014 WNT11_HUMAN wingless-type MMTV integration site family, 88 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding lung(1)|skin(1) 2 CAGTTCCAGCGCATGTCGGCA 0.632 SLC2A14 144195 broad.mit.edu 37 12 7970576 7970576 + Missense_Mutation SNP C A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:7970576C>A uc001qtk.2 - 15 1988 c.1195G>T c.(1195-1197)GCC>TCC p.A399S SLC2A14_uc001qtl.2_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.2_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.1_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.2_Missense_Mutation_p.A399S|SLC2A14_uc001qto.2_Missense_Mutation_p.A34S|SLC2A14_uc010sgh.1_Missense_Mutation_p.A414S NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 399 Helical; Name=10; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TCAAAACAGGCCACAAAGACC 0.498 WIF1 11197 broad.mit.edu 37 12 65460443 65460443 + Missense_Mutation SNP G T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:65460443G>T uc001ssk.2 - 6 853 c.708C>A c.(706-708)TTC>TTA p.F236L NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 236 EGF-like 2. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TCACTCCATAGAATCCAGGTG 0.373 T HMGA2 pleomorphic salivary gland adenoma LOC283392 283392 broad.mit.edu 37 12 72666917 72666917 + Translation_Start_Site SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:72666917C>T uc010stv.1 - 1 373 c.-207G>A c.(-209--205)ACGTG>ACATG TRHDE_uc001sxa.2_Missense_Mutation_p.T120M NR_026836 Homo sapiens thyrotropin-releasing hormone degrading enzyme, mRNA (cDNA clone IMAGE:4992272). 0 CCGGGGACCACGTCGGCCCAG 0.741 SCARB1 949 broad.mit.edu 37 12 125296422 125296422 + Silent SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:125296422C>T uc001ugo.3 - 5 973 c.720G>A c.(718-720)CTG>CTA p.L240L SCARB1_uc001ugn.3_Silent_p.L240L|SCARB1_uc001ugm.3_Silent_p.L240L|SCARB1_uc010tbd.1_Silent_p.L240L|SCARB1_uc010tbe.1_Silent_p.L199L|SCARB1_uc001ugp.3_Silent_p.L240L NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 240 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) TCACCTTGCTCAGCCCGTTCC 0.652 TMEM132B 114795 broad.mit.edu 37 12 126138507 126138507 + Nonsense_Mutation SNP G T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:126138507G>T uc001uhe.1 + 9 2496 c.2488G>T c.(2488-2490)GAA>TAA p.E830* TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342* NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 830 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AGCAGTCCAGGAATGGTTCCA 0.488 GPC6 10082 broad.mit.edu 37 13 94680086 94680086 + Missense_Mutation SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr13:94680086A>G uc001vlt.2 + 4 1447 c.815A>G c.(814-816)AAC>AGC p.N272S GPC6_uc010tig.1_Missense_Mutation_p.N272S NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 272 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TACTGTCTCAACGTCATGAAG 0.527 FANCM 57697 broad.mit.edu 37 14 45620712 45620712 + Missense_Mutation SNP A T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:45620712A>T uc001wwd.3 + 5 1130 c.1031A>T c.(1030-1032)AAC>ATC p.N344I FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.2_Missense_Mutation_p.N318I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 344 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TTTAGGAAAAACCCATCTCCG 0.318 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia ACTN1 87 broad.mit.edu 37 14 69349623 69349623 + Silent SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:69349623G>A uc001xkl.2 - 15 2095 c.1785C>T c.(1783-1785)ATC>ATT p.I595I ACTN1_uc001xkk.2_Silent_p.I191I|ACTN1_uc010ttb.1_Silent_p.I530I|ACTN1_uc001xkm.2_Silent_p.I595I|ACTN1_uc001xkn.2_Silent_p.I595I|ACTN1_uc010ttc.1_Silent_p.I180I NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 595 Interaction with DDN.|Spectrin 3. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCTGAGGCGTGATGGTTGTGT 0.517 DICER1 23405 broad.mit.edu 37 14 95557629 95557629 + Missense_Mutation SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:95557629T>C uc001ydw.2 - 26 5620 c.5438A>G c.(5437-5439)GAG>GGG p.E1813G DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1813 RNase III 2. Magnesium or manganese 2. E->A: Decreased activity. Loss of activity; when associated with E-1444. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AGCAAGCGACTCAAAAATATC 0.458 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ LCTL 197021 broad.mit.edu 37 15 66853375 66853375 + Missense_Mutation SNP C A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:66853375C>A uc002aqc.2 - 6 806 c.674G>T c.(673-675)GGC>GTC p.G225V LCTL_uc002aqd.3_Missense_Mutation_p.G52V|LCTL_uc010bhw.2_Intron NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 225 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 CTTGTACAGGCCGGTGCCGCG 0.602 NOX5 79400 broad.mit.edu 37 15 69347743 69347743 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:69347743T>A uc002ars.1 + 15 2089 c.2069T>A c.(2068-2070)CTG>CAG p.L690Q NOX5_uc002arp.1_Missense_Mutation_p.L672Q|NOX5_uc002arq.1_Missense_Mutation_p.L644Q|NOX5_uc010bid.1_Missense_Mutation_p.L655Q|NOX5_uc002arr.1_Missense_Mutation_p.L662Q|NOX5_uc010bie.1_Missense_Mutation_p.L490Q|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 690 Extracellular (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GCCATTGGCCTGCAGATGGCC 0.597 UNC45A 55898 broad.mit.edu 37 15 91488293 91488293 + Missense_Mutation SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:91488293A>G uc002bqg.2 + 9 1539 c.1199A>G c.(1198-1200)AAG>AGG p.K400R UNC45A_uc002bqd.2_Missense_Mutation_p.K385R|UNC45A_uc010uqr.1_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 400 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AACTACATCAAGTAAGGAAGT 0.478 RUNDC2A 84127 broad.mit.edu 37 16 12145796 12145796 + Missense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:12145796G>A uc002dbw.1 + 8 903 c.841G>A c.(841-843)GTG>ATG p.V281M SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 281 ovary(1) 1 CTCTGGGGACGTGTTTAAAAA 0.483 T CIITA PMBL|Hodgkin Lymphona| AKTIP 64400 broad.mit.edu 37 16 53528141 53528141 + Nonsense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:53528141G>A uc002ehk.2 - 8 830 c.619C>T c.(619-621)CAG>TAG p.Q207* AKTIP_uc002ehl.2_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehm.2_Nonsense_Mutation_p.Q207* NM_001012398 NP_001012398 Q9H8T0 AKTIP_HUMAN AKT interacting protein 207 apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport FHF complex|plasma membrane acid-amino acid ligase activity|protein binding 0 all_cancers(37;0.14) TTAAAAAGCTGAATATCTTTT 0.308 CDH16 1014 broad.mit.edu 37 16 66946227 66946227 + Missense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:66946227G>A uc002eql.2 - 12 1539 c.1466C>T c.(1465-1467)GCC>GTC p.A489V CDH16_uc010cdy.2_Missense_Mutation_p.A489V|CDH16_uc002eqm.2_Missense_Mutation_p.A392V NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 489 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCTCTCAATGGCAAAATCCAT 0.577 WWP2 11060 broad.mit.edu 37 16 69973830 69973830 + Missense_Mutation SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:69973830T>C uc002exu.1 + 25 2689 c.2600T>C c.(2599-2601)TTT>TCT p.F867S WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 867 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 ACCGAGGGCTTTGGACAGGAG 0.612 TP53 7157 broad.mit.edu 37 17 7577035 7577036 + Frame_Shift_Ins INS - G G rs72661120 TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:7577035_7577036insG uc002gim.2 - 8 1096_1097 c.902_903insC c.(901-903)CCAfs p.P301fs TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 301 Interaction with HIPK1 (By similarity).|Interaction with CARM1. P -> T (in a sporadic cancer; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> S (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.P301fs*44(9)|p.0?(7)|p.G302fs*4(4)|p.?(3)|p.P301fs*5(3)|p.P301S(3)|p.P301_S303delPGS(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.P301Q(1)|p.P301P(1)|p.P301fs*45(1)|p.P301T(1)|p.G293fs*1(1)|p.P301L(1)|p.P301A(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) TAGTGCTCCCTGGGGGCAGCTC 0.559 111 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) NF1 4763 broad.mit.edu 37 17 29557336 29557336 + Nonsense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:29557336C>T uc002hgg.2 + 23 3382 c.3049C>T c.(3049-3051)CAA>TAA p.Q1017* NF1_uc002hgh.2_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.1_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1017 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2)|p.Q1017*(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAAACTGTGTCAATTAGTTGA 0.338 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) GAS2L2 246176 broad.mit.edu 37 17 34072639 34072639 + Missense_Mutation SNP C G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:34072639C>G uc002hjv.1 - 6 1905 c.1877G>C c.(1876-1878)AGG>ACG p.R626T NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 626 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GACCCCAGACCTTGTGCCCTG 0.582 TUBG2 27175 broad.mit.edu 37 17 40817702 40817702 + Missense_Mutation SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:40817702A>G uc010wgr.1 + 8 956 c.700A>G c.(700-702)ACC>GCC p.T234A TUBG2_uc002iaq.2_Missense_Mutation_p.T76A|TUBG2_uc002iar.2_Missense_Mutation_p.T81A|TUBG2_uc002ias.2_Missense_Mutation_p.T76A|TUBG2_uc002iap.2_Missense_Mutation_p.T81A NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 234 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CCAGGTGTCCACCATCATGTC 0.637 WNK4 65266 broad.mit.edu 37 17 40939868 40939868 + Missense_Mutation SNP C A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:40939868C>A uc002ibj.2 + 8 1835 c.1814C>A c.(1813-1815)CCT>CAT p.P605H WNK4_uc010wgx.1_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 605 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTTCAGCCCCCTGGGGGGGTG 0.632 C18orf34 374864 broad.mit.edu 37 18 30873224 30873224 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr18:30873224T>A uc002kxn.2 - 11 1217 c.1075A>T c.(1075-1077)ATA>TTA p.I359L C18orf34_uc010xbr.1_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.2_Missense_Mutation_p.I359L NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 359 Potential. ovary(1) 1 TTAACATTTATCACTGATGAA 0.274 C19orf2 8725 broad.mit.edu 37 19 30476136 30476136 + Silent SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:30476136G>A uc002nsr.2 + 3 189 c.159G>A c.(157-159)AAG>AAA p.K53K C19orf2_uc002nsq.2_Silent_p.K35K|C19orf2_uc002nss.2_Silent_p.K13K|C19orf2_uc002nst.2_5'UTR NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 53 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) ACAGGAAGAAGGTAGATAATG 0.244 WDR88 126248 broad.mit.edu 37 19 33651345 33651345 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:33651345T>A uc002nui.2 + 8 1101 c.1023T>A c.(1021-1023)TTT>TTA p.F341L NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN PQQ repeat and WD repeat domain containing 341 WD 6. ovary(1)|breast(1)|central_nervous_system(1) 3 Esophageal squamous(110;0.137) CTGGAGGGTTTGATAGGACTG 0.493 LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:33695616A>C uc010edh.2 + 4 426 c.333A>C c.(331-333)CCA>CCC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 111 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 KCTD15 79047 broad.mit.edu 37 19 34292103 34292103 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:34292103C>T uc002nuy.3 + 4 366 c.98C>T c.(97-99)ACC>ATC p.T33I KCTD15_uc002nuv.2_Missense_Mutation_p.T33I|KCTD15_uc002nuw.3_Missense_Mutation_p.T33I|KCTD15_uc010xrt.1_Missense_Mutation_p.T33I|KCTD15_uc002nux.3_Missense_Mutation_p.T33I NM_001129994 NP_001123466 Q96SI1 KCD15_HUMAN potassium channel tetramerisation domain 33 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 Esophageal squamous(110;0.162) CTGTCTCTCACCCGGTCGCCT 0.582 ZNF470 388566 broad.mit.edu 37 19 57088457 57088457 + Silent SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:57088457A>G uc002qnl.3 + 6 1336 c.660A>G c.(658-660)CAA>CAG p.Q220Q ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) AACACAAGCAAGACCGTGGAG 0.308 ZNF324 25799 broad.mit.edu 37 19 58983498 58983498 + Missense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:58983498G>A uc002qsw.1 + 4 1733 c.1639G>A c.(1639-1641)GTC>ATC p.V547I ZNF324_uc002qsx.1_Missense_Mutation_p.V324I NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCCAGCCGCCGTCTCGCAGCC 0.652 APOB 338 broad.mit.edu 37 2 21247830 21247830 + Missense_Mutation SNP C T T rs148190577 byFrequency TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:21247830C>T uc002red.2 - 16 2539 c.2411G>A c.(2410-2412)CGC>CAC p.R804H NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 804 LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGCAGAGTGCGGGCACCCAT 0.587 C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC - - TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:29295647_29295649delTCC uc002rmt.1 - 1 1479_1481 c.1479_1481delGGA c.(1477-1482)GAGGAA>GAA p.493_494EE>E NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 493_494 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CATTTTGTCTTCCTCCTCCTCCT 0.542 NRXN1 9378 broad.mit.edu 37 2 50765702 50765702 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:50765702T>A uc010fbq.2 - 10 3429 c.1952A>T c.(1951-1953)GAT>GTT p.D651V NRXN1_uc002rxb.3_Missense_Mutation_p.D283V|NRXN1_uc002rxe.3_Missense_Mutation_p.D611V|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTACAACTCATCATCCAGGTC 0.527 ARHGAP25 9938 broad.mit.edu 37 2 69046427 69046427 + Silent SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:69046427T>C uc002seu.2 + 9 1537 c.1173T>C c.(1171-1173)TCT>TCC p.S391S ARHGAP25_uc010fdg.2_Silent_p.S392S|ARHGAP25_uc010yql.1_Silent_p.S352S|ARHGAP25_uc002sev.2_Silent_p.S385S|ARHGAP25_uc002sew.2_Silent_p.S384S|ARHGAP25_uc002sex.2_Silent_p.S385S|ARHGAP25_uc002sey.2_Silent_p.S118S NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 391 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 TCCGAATTTCTAGGACAGACA 0.532 LMAN2L 81562 broad.mit.edu 37 2 97400183 97400183 + Silent SNP G C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:97400183G>C uc002swu.2 - 3 423 c.387C>G c.(385-387)GGC>GGG p.G129G LMAN2L_uc002swv.2_Silent_p.G129G|LMAN2L_uc010yut.1_Missense_Mutation_p.A12G|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_Missense_Mutation_p.A12G|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_Missense_Mutation_p.A12G NM_030805 NP_110432 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like isoform 2 129 L-type lectin-like.|Lumenal (Potential). ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding 0 AGATTGCCAAGCCATCCCCAT 0.473 MFSD9 84804 broad.mit.edu 37 2 103340253 103340253 + Missense_Mutation SNP G C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:103340253G>C uc002tcb.2 - 5 611 c.543C>G c.(541-543)ATC>ATG p.I181M MFSD9_uc010fja.2_RNA NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 181 Helical; (Potential). transmembrane transport integral to membrane|plasma membrane transporter activity ovary(2)|breast(2) 4 CGGGGCCCAAGATGAAGCCCA 0.502 FIGN 55137 broad.mit.edu 37 2 164466661 164466661 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:164466661C>T uc002uck.1 - 3 1992 c.1681G>A c.(1681-1683)GGA>AGA p.G561R NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 561 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TCTGCTTCTCCTAACCACTTG 0.493 CPO 130749 broad.mit.edu 37 2 207827161 207827161 + Missense_Mutation SNP A T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:207827161A>T uc002vby.2 + 7 646 c.600A>T c.(598-600)CAA>CAT p.Q200H NM_173077 NP_775100 Q8IVL8 CBPO_HUMAN carboxypeptidase O precursor 200 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|ovary(1) 2 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GAAACTGCCAAGATCAAACAT 0.448 SPHKAP 80309 broad.mit.edu 37 2 228881144 228881144 + Missense_Mutation SNP C T T rs150119101 TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:228881144C>T uc002vpq.2 - 7 4473 c.4426G>A c.(4426-4428)GTG>ATG p.V1476M SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1476 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAAGCGCTCACGGCTGTGTCT 0.463 KRTAP10-9 386676 broad.mit.edu 37 21 46047750 46047750 + Missense_Mutation SNP C A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr21:46047750C>A uc002zfp.3 + 1 711 c.662C>A c.(661-663)ACC>AAC p.T221N C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 221 22.|25 X 5 AA repeats of C-C-X(3). keratin filament 0 GCTTGCTGCACCACCTCCTGC 0.657 COL7A1 1294 broad.mit.edu 37 3 48612126 48612126 + Missense_Mutation SNP C G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:48612126C>G uc003ctz.2 - 77 6378 c.6377G>C c.(6376-6378)GGT>GCT p.G2126A NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2126 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCCTTTGGGACCTTGGTCACC 0.607 C3orf38 285237 broad.mit.edu 37 3 88205314 88205314 + Nonsense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:88205314G>A uc003dqw.2 + 4 830 c.519G>A c.(517-519)TGG>TGA p.W173* NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 173 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AGCACTTCTGGCATGATGTGA 0.418 DRD3 1814 broad.mit.edu 37 3 113847759 113847759 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:113847759C>T uc003ebd.2 - 8 1430 c.1007G>A c.(1006-1008)GGG>GAG p.G336E DRD3_uc010hqn.1_Missense_Mutation_p.G336E|DRD3_uc003ebb.1_Missense_Mutation_p.G303E|DRD3_uc003ebc.1_Missense_Mutation_p.G336E NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 336 Helical; Name=6. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AATGAAGGCCCCTAAGTTGCC 0.428 PPM1L 151742 broad.mit.edu 37 3 160786689 160786689 + Missense_Mutation SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:160786689A>G uc003fdr.2 + 4 928 c.827A>G c.(826-828)AAC>AGC p.N276S PPM1L_uc003fds.2_Missense_Mutation_p.N97S|PPM1L_uc003fdt.2_Missense_Mutation_p.N149S|PPM1L_uc010hwf.2_RNA NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN protein phosphatase 1 (formerly 2C)-like 276 Cytoplasmic (Potential).|PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1) 1 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AAAAATCTCAACGTGGTCATC 0.522 PCYT1A 5130 broad.mit.edu 37 3 195969479 195969479 + Nonsense_Mutation SNP A C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:195969479A>C uc003fwg.2 - 7 692 c.519T>G c.(517-519)TAT>TAG p.Y173* PCYT1A_uc003fwh.2_Nonsense_Mutation_p.Y173* NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 173 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) CAGCAGATGAATAAGGAATAT 0.428 CYP2U1 113612 broad.mit.edu 37 4 108866315 108866315 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:108866315C>T uc003hyp.2 + 2 763 c.680C>T c.(679-681)GCC>GTC p.A227V CYP2U1_uc011cfi.1_Missense_Mutation_p.A18V NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, 227 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) ATCAGCAATGCCGTCTCTAAC 0.438 ANK2 287 broad.mit.edu 37 4 114279919 114279919 + Missense_Mutation SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:114279919T>C uc003ibe.3 + 38 10245 c.10145T>C c.(10144-10146)ATC>ACC p.I3382T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.I684T|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3349 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGGCAAGCATCGCACCAGAT 0.463 MLF1IP 79682 broad.mit.edu 37 4 185631267 185631267 + Silent SNP A G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:185631267A>G uc003iwq.2 - 8 826 c.756T>C c.(754-756)AAT>AAC p.N252N MLF1IP_uc003iwp.2_RNA|MLF1IP_uc003iwr.1_Silent_p.N252N NM_024629 NP_078905 Q71F23 CENPU_HUMAN MLF1 interacting protein 252 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm 0 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GCAAAACAATATTCAACTCCT 0.303 MTRR 4552 broad.mit.edu 37 5 7875377 7875377 + Missense_Mutation SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:7875377G>A uc003jed.2 + 4 401 c.371G>A c.(370-372)GGT>GAT p.G124D MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.G97D|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 124 FMN (By similarity).|Flavodoxin-like. 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) CTAGGTCTCGGTGATTCAGAA 0.348 MARCH6 10299 broad.mit.edu 37 5 10423856 10423857 + Frame_Shift_Ins INS - T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:10423856_10423857insT uc003jet.1 + 23 2476_2477 c.2293_2294insT c.(2293-2295)CTTfs p.L765fs MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 765 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GGACTGGGCACTTGGAGTCCTG 0.361 RAB24 53917 broad.mit.edu 37 5 176729179 176729179 + Missense_Mutation SNP T C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:176729179T>C uc003mfv.2 - 7 803 c.434A>G c.(433-435)AAT>AGT p.N145S RAB24_uc003mfu.2_Missense_Mutation_p.N116S|RAB24_uc003mfw.2_Missense_Mutation_p.N145S|PRELID1_uc003mfx.2_5'Flank|PRELID1_uc003mfy.2_5'Flank NM_130781 NP_570137 Q969Q5 RAB24_HUMAN RAB24 gene product 145 autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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) AGCTTTGATATCTGTAAAGAG 0.502 HUS1B 135458 broad.mit.edu 37 6 656375 656375 + Silent SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:656375G>A uc003mtg.2 - 1 590 c.570C>T c.(568-570)ACC>ACT p.T190T EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 190 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) CTATACTCAGGGTCATCCTGC 0.562 TTBK1 84630 broad.mit.edu 37 6 43250498 43250498 + Missense_Mutation SNP G T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:43250498G>T uc003ouq.1 + 14 2299 c.2020G>T c.(2020-2022)GGC>TGC p.G674C NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 674 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.G674G(1) lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGAGGTGAATGGCCTCCCACG 0.612 SYNE1 23345 broad.mit.edu 37 6 152779932 152779932 + Missense_Mutation SNP C G G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:152779932C>G uc010kiw.2 - 22 3130 c.2528G>C c.(2527-2529)CGT>CCT p.R843P SYNE1_uc003qot.3_Missense_Mutation_p.R850P|SYNE1_uc003qou.3_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.2_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 843 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGTGCCTCACGCTCAAGAAC 0.403 HNSCC(10;0.0054) GIMAP2 26157 broad.mit.edu 37 7 150390248 150390248 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr7:150390248C>T uc003who.2 + 3 962 c.874C>T c.(874-876)CAC>TAC p.H292Y GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 292 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGCATACTGCACAGCATGTG 0.328 GIMAP5 55340 broad.mit.edu 37 7 150440111 150440111 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr7:150440111T>A uc003whr.1 + 3 1236 c.884T>A c.(883-885)CTT>CAT p.L295H GIMAP5_uc010lpu.2_Missense_Mutation_p.L153H NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 295 Helical; Anchor for type IV membrane protein; (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAGCATACTTTTTTTCATT 0.368 XKR5 389610 broad.mit.edu 37 8 6681094 6681094 + Missense_Mutation SNP T A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr8:6681094T>A uc003wqp.2 - 4 608 c.586A>T c.(586-588)AGT>TGT p.S196C XKR5_uc003wqq.2_Missense_Mutation_p.S33C|XKR5_uc003wqr.1_RNA NM_207411 NP_997294 Q6UX68 XKR5_HUMAN XK-related protein 5a 196 integral to membrane 0 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGAACCAGACTCAGCACGCGG 0.483 Unknown 0 broad.mit.edu 37 8 73150397 73150397 + Missense_Mutation SNP A T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr8:73150397A>T uc010lzg.2 - 7 847 c.311T>A c.(310-312)TTT>TAT p.F104Y Homo sapiens cDNA, FLJ99767. GTTATCCACAAAGTTGATGTG 0.403 PTPRD 5789 broad.mit.edu 37 9 8389318 8389318 + Missense_Mutation SNP C T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:8389318C>T uc003zkk.2 - 36 5011 c.4300G>A c.(4300-4302)GAA>AAA p.E1434K PTPRD_uc003zkp.2_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.2_Missense_Mutation_p.E1018K|PTPRD_uc003zks.2_Missense_Mutation_p.E1027K|PTPRD_uc003zkl.2_Missense_Mutation_p.E1425K|PTPRD_uc003zkm.2_Missense_Mutation_p.E1421K|PTPRD_uc003zkn.2_Missense_Mutation_p.E1023K|PTPRD_uc003zko.2_Missense_Mutation_p.E1024K NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1434 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAAATGTTTCGGGGAGAGAT 0.418 TSP Lung(15;0.13) SLC28A3 64078 broad.mit.edu 37 9 86924627 86924627 + Missense_Mutation SNP A T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:86924627A>T uc010mpz.2 - 3 284 c.159T>A c.(157-159)GAT>GAA p.D53E SLC28A3_uc011lsy.1_5'UTR|SLC28A3_uc004anu.1_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.2_5'UTR NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 53 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 CCTGTTCTTCATCCTGGAAAT 0.428 KIAA1958 158405 broad.mit.edu 37 9 115336719 115336719 + Missense_Mutation SNP G T T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:115336719G>T uc004bgf.1 + 2 534 c.359G>T c.(358-360)TGT>TTT p.C120F KIAA1958_uc011lwx.1_Missense_Mutation_p.C120F NM_133465 NP_597722 Q8N8K9 K1958_HUMAN hypothetical protein LOC158405 120 skin(1) 1 AGAGACTCTTGTGACTTCTCC 0.473 NUP62CL 54830 broad.mit.edu 37 X 106397360 106397360 + Missense_Mutation SNP G C C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:106397360G>C uc004ena.2 - 5 570 c.311C>G c.(310-312)GCT>GGT p.A104G NUP62CL_uc004enb.2_Intron NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 104 protein transport nuclear pore structural constituent of nuclear pore 0 ATGGTCCCAAGCATTGACCTG 0.388 UBE2NL 389898 broad.mit.edu 37 X 142967486 142967487 + Missense_Mutation DNP AG TA TA TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:142967486_142967487AG>TA uc004fca.2 + 1 314_315 c.284_285AG>TA c.(283-285)AAG>ATA p.K95I NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 95 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) TTGAAAGATAAGTGGTCCCCAG 0.421 GABRQ 55879 broad.mit.edu 37 X 151808911 151808911 + Silent SNP G A A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:151808911G>A uc004ffp.1 + 2 242 c.222G>A c.(220-222)CTG>CTA p.L74L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 74 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCCGCCTGAGACCGAATT 0.463