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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:24189688C>T uc001bie.3 - 2 681 c.598G>A c.(598-600)Ggc>Agc p.G200S FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript NM_000147 NP_000138 P04066 FUCO_HUMAN Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA. 200 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:24189727C>T uc001bie.3 - 2 642 c.559G>A c.(559-561)Gag>Aag p.E187K FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript NM_000147 NP_000138 P04066 FUCO_HUMAN Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA. 187 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 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 C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:46745257C>G uc001cpn.3 - 7 2094 c.2050G>C c.(2050-2052)Gag>Cag p.E684Q LRRC41_uc010omb.2_Missense_Mutation_p.E684Q NM_006369 NP_006360 Q15345 LRC41_HUMAN Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA. 684 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GGGCGCTTCTCAAACAGACGG 0.552 IFI16 3428 broad.mit.edu 37 1 158986412 158986412 + Silent SNP C C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:158986412C>G uc001ftg.3 + 3 761 c.471C>G c.(469-471)gcC>gcG p.A157A IFI16_uc010pis.2_Intron|IFI16_uc010pit.2_Silent_p.A157A|IFI16_uc001ftf.1_Silent_p.A157A NM_005531 NP_005522 Q16666 IF16_HUMAN Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA. 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 cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CTGCAGGAGCCGGCATGTCCA 0.522 NR5A2 2494 broad.mit.edu 37 1 200017711 200017711 + Missense_Mutation SNP G G C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:200017711G>C uc001gvb.3 + 4 1081 c.875G>C c.(874-876)aGt>aCt p.S292T NR5A2_uc001gvc.3_Missense_Mutation_p.S246T|NR5A2_uc009wzh.3_Missense_Mutation_p.S252T|NR5A2_uc010pph.2_Missense_Mutation_p.S220T NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 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 cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TATATGGATAGTTACCAGACG 0.488 OR2T3 343173 broad.mit.edu 37 1 248637231 248637231 + Missense_Mutation SNP T T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr1:248637231T>C uc001iel.1 + 0 580 c.580T>C c.(580-582)Tgc>Cgc p.C194R NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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 T G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:56431364T>G uc010rjm.2 + 0 203 c.203T>G c.(202-204)tTt>tGt p.F68C OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 AACCTCTCCTTTGTTGACCTG 0.463 OSBP 5007 broad.mit.edu 37 11 59376014 59376014 + Silent SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:59376014G>A uc001noc.1 - 2 1245 c.765C>T c.(763-765)atC>atT p.I255I NM_002556 NP_002547 P22059 OSBP1_HUMAN Homo sapiens oxysterol binding protein (OSBP), mRNA. 255 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 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 G C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:66333870G>C uc001oip.3 - 4 703 c.613C>G c.(613-615)Cgg>Ggg p.R205G NM_003793 NP_003784 Q9UBX1 CATF_HUMAN Homo sapiens cathepsin F (CTSF), mRNA. 205 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AGGCGCCACCGGGCTTCTGAG 0.587 WNT11 7481 broad.mit.edu 37 11 75907584 75907584 + Missense_Mutation SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr11:75907584G>A uc001oxe.3 - 1 385 c.262C>T c.(262-264)Cgc>Tgc p.R88C WNT11_uc001oxf.1_Missense_Mutation_p.R88C NM_004626 NP_004617 O96014 WNT11_HUMAN Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA. 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 breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 CAGTTCCAGCGCATGTCGGCA 0.632 SLC2A14 144195 broad.mit.edu 37 12 7970576 7970576 + Missense_Mutation SNP C C A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:7970576C>A uc010sgh.2 - 8 1261 c.1240G>T c.(1240-1242)Gcc>Tcc p.A414S SLC2A14_uc001qtk.3_Missense_Mutation_p.A399S|SLC2A14_uc001qtl.3_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.3_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.2_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.3_Missense_Mutation_p.A399S|SLC2A14_uc001qto.3_Missense_Mutation_p.A34S NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA. 399 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TCAAAACAGGCCACAAAGACC 0.498 WIF1 11197 broad.mit.edu 37 12 65460443 65460443 + Missense_Mutation SNP G G T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:65460443G>T uc001ssk.3 - 5 1083 c.708C>A c.(706-708)ttC>ttA p.F236L NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA. 236 EGF-like 2. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.G235E(1) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 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 TRHDE 283392 broad.mit.edu 37 12 72666917 72666917 + Translation_Start_Site SNP C C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:72666917C>T uc001sxa.3 + 0 389 c.359C>T c.(358-360)aCg>aTg p.T120M LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 120 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CCGGGGACCACGTCGGCCCAG 0.741 SCARB1 949 broad.mit.edu 37 12 125296422 125296422 + Silent SNP C C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:125296422C>T uc001ugp.3 - 4 973 c.720G>A c.(718-720)ctG>ctA p.L240L SCARB1_uc001ugm.4_Silent_p.L240L|SCARB1_uc001ugn.4_Silent_p.L240L|SCARB1_uc010tbd.2_Silent_p.L240L|SCARB1_uc001ugo.4_Silent_p.L240L NM_001082959 NP_001076428 Q8WTV0 SCRB1_HUMAN Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA. 240 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 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 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 G T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr12:126138507G>T uc001uhe.1 + 8 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 Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 830 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 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 A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr13:94680086A>G uc001vlt.3 + 3 1447 c.815A>G c.(814-816)aAc>aGc p.N272S GPC6_uc010tig.1_Missense_Mutation_p.N272S|5S_rRNA_uc021rli.1_5'Flank NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 272 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 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 A T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:45620712A>T uc001wwd.4 + 4 1130 c.1031A>T c.(1030-1032)aAc>aTc p.N344I FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.3_Missense_Mutation_p.N318I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA. 344 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 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 G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:69349623G>A uc001xkl.3 - 14 2095 c.1785C>T c.(1783-1785)atC>atT p.I595I ACTN1_uc001xkk.3_Silent_p.I191I|ACTN1_uc010ttb.2_Silent_p.I530I|ACTN1_uc001xkm.3_Silent_p.I595I|ACTN1_uc001xkn.3_Silent_p.I595I|ACTN1_uc010ttc.2_Silent_p.I180I NM_001102 NP_001093 P12814 ACTN1_HUMAN Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA. 595 Interaction with DDN. 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 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 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 T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr14:95557629T>C uc001ydw.2 - 25 5650 c.5438A>G c.(5437-5439)gAg>gGg p.E1813G DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 1813 RNase III 2. 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 p.E1813G(2)|p.E1813A(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 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""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome LCTL 197021 broad.mit.edu 37 15 66853375 66853375 + Missense_Mutation SNP C C A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:66853375C>A uc002aqc.3 - 5 806 c.674G>T c.(673-675)gGc>gTc p.G225V LCTL_uc002aqd.4_Missense_Mutation_p.G52V|LCTL_uc010bhw.3_Intron NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 225 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.G225V(6) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTGTACAGGCCGGTGCCGCG 0.602 NOX5 79400 broad.mit.edu 37 15 69347743 69347743 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:69347743T>A uc002ars.2 + 14 2110 c.2069T>A c.(2068-2070)cTg>cAg p.L690Q MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.L644Q|NOX5_uc002arp.2_Missense_Mutation_p.L672Q|NOX5_uc010bid.2_Missense_Mutation_p.L655Q|NOX5_uc010bie.2_Missense_Mutation_p.L490Q|NOX5_uc002arr.2_Missense_Mutation_p.L662Q|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 690 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|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(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GCCATTGGCCTGCAGATGGCC 0.597 UNC45A 55898 broad.mit.edu 37 15 91488293 91488293 + Missense_Mutation SNP A A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr15:91488293A>G uc002bqg.3 + 9 1539 c.1199_splice c.e9+1 p.K400_splice UNC45A_uc002bqd.3_Splice_Site_p.K385_splice|UNC45A_uc010uqr.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA. 400 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AACTACATCAAGTAAGGAAGT 0.478 SNX29 84127 broad.mit.edu 37 16 12145796 12145796 + Missense_Mutation SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:12145796G>A uc002dby.4 + 7 SNX29_uc002dbw.2_Missense_Mutation_p.V281M NM_032167 NP_115543 Q8TEQ0 SNX29_HUMAN Homo sapiens sorting nexin 29 (SNX29), mRNA. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CTCTGGGGACGTGTTTAAAAA 0.483 AKTIP 64400 broad.mit.edu 37 16 53528141 53528141 + Nonsense_Mutation SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:53528141G>A uc002ehm.3 - 7 801 c.619C>T c.(619-621)Cag>Tag p.Q207* AKTIP_uc002ehk.3_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehl.3_Nonsense_Mutation_p.Q207* NM_022476 NP_071921 Q9H8T0 AKTIP_HUMAN Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA. 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 large_intestine(1)|lung(2)|prostate(2) 5 all_cancers(37;0.14) TTAAAAAGCTGAATATCTTTT 0.308 CDH16 1014 broad.mit.edu 37 16 66946227 66946227 + Missense_Mutation SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:66946227G>A uc002eql.3 - 11 1660 c.1466C>T c.(1465-1467)gCc>gTc p.A489V CDH16_uc010cdy.3_Missense_Mutation_p.A489V|CDH16_uc021tjx.1_Missense_Mutation_p.A489V|CDH16_uc002eqm.3_Missense_Mutation_p.A392V NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 489 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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 T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr16:69973830T>C uc002exu.1 + 24 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 Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA. 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 breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCGAGGGCTTTGGACAGGAG 0.612 TP53 7157 broad.mit.edu 37 17 7577035 7577036 + Frame_Shift_Ins INS - - G rs72661120 TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:7577035_7577036insG uc002gim.2 - 7 1096_1097 c.902_903insC c.(901-903)ccafs p.P301fs TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 301 Interaction with CARM1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:29557336C>T uc002hgg.3 + 22 3432 c.3049C>T c.(3049-3051)Caa>Taa p.Q1017* NF1_uc002hgh.3_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.2_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 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.0?(8)|p.?(4)|p.Q1017*(2)|p.C1016fs*4(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 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 C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:34072639C>G uc002hjv.2 - 5 1905 c.1877G>C c.(1876-1878)aGg>aCg p.R626T NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 626 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 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 A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:40817702A>G uc010wgr.2 + 7 956 c.700A>G c.(700-702)Acc>Gcc p.T234A TUBG2_uc002iap.3_Missense_Mutation_p.T81A NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN Homo sapiens tubulin, gamma 2 (TUBG2), mRNA. 234 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 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 C A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr17:40939868C>A uc002ibj.3 + 7 1882 c.1814C>A c.(1813-1815)cCt>cAt p.P605H WNK4_uc010wgx.2_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 605 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity p.L605I(1) NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 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 T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr18:30873224T>A uc010xbr.1 - 10 1217 c.1075A>T c.(1075-1077)Ata>Tta p.I359L C18orf34_uc002kxn.2_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.3_Missense_Mutation_p.I359L NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 359 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 TTAACATTTATCACTGATGAA 0.279 URI1 8725 broad.mit.edu 37 19 30476136 30476136 + Silent SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:30476136G>A uc002nsr.3 + 2 468 c.159G>A c.(157-159)aaG>aaA p.K53K URI1_uc002nsq.3_Silent_p.K35K|URI1_uc002nss.3_Silent_p.K13K|URI1_uc002nst.3_5'UTR NM_003796 NP_003787 O94763 RMP_HUMAN Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA. 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 ACAGGAAGAAGGTAGATAATG 0.249 WDR88 126248 broad.mit.edu 37 19 33651345 33651345 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:33651345T>A uc002nui.3 + 7 1101 c.1023T>A c.(1021-1023)ttT>ttA p.F341L NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN Homo sapiens WD repeat domain 88 (WDR88), mRNA. 341 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CTGGAGGGTTTGATAGGACTG 0.493 LRP3 4037 broad.mit.edu 37 19 33695616 33695616 + Silent SNP A A C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:33695616A>C uc010edh.3 + 3 426 c.333A>C c.(331-333)ccA>ccC p.P111P LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.4_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA. 111 CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity p.P111P(2) breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CAGCAGCCCCACCCCGCCAGG 0.662 KCTD15 79047 broad.mit.edu 37 19 34292103 34292103 + Missense_Mutation SNP C C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:34292103C>T uc002nuy.4 + 3 366 c.98C>T c.(97-99)aCc>aTc p.T33I KCTD15_uc002nuv.3_Missense_Mutation_p.T33I|KCTD15_uc002nuw.4_Missense_Mutation_p.T33I|KCTD15_uc010xrt.2_Missense_Mutation_p.T33I|KCTD15_uc002nux.4_Missense_Mutation_p.T33I NM_001129994 NP_001123467 Q96SI1 KCD15_HUMAN Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA. 33 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1) 5 Esophageal squamous(110;0.162) CTGTCTCTCACCCGGTCGCCT 0.582 ZNF470 388566 broad.mit.edu 37 19 57088457 57088457 + Silent SNP A A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:57088457A>G uc002qnl.4 + 5 1336 c.660A>G c.(658-660)caA>caG p.Q220Q ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 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 G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr19:58983498G>A uc002qsw.2 + 3 1784 c.1639G>A c.(1639-1641)Gtc>Atc p.V547I NM_014347 NP_055162 O75467 Z324A_HUMAN Homo sapiens zinc finger protein 324 (ZNF324), mRNA. 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 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 C T rs148190577 byFrequency TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:21247830C>T uc002red.3 - 15 2539 c.2411G>A c.(2410-2412)cGc>cAc p.R804H NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 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 NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 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 TCC - TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:29295647_29295649delTCC uc002rmt.2 - 0 1479_1481 c.1479_1481delGGA c.(1477-1482)gaggaa>gaa p.493_494EE>E NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 493 response to stimulus|visual perception photoreceptor outer segment p.E492K(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 NRXN1 9378 broad.mit.edu 37 2 50765702 50765702 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:50765702T>A uc021vhh.1 - 8 2753 c.1832A>T c.(1831-1833)gAt>gTt p.D611V NRXN1_uc002rxb.4_Missense_Mutation_p.D283V|NRXN1_uc021vhg.1_Missense_Mutation_p.D651V|NRXN1_uc021vhi.1_Missense_Mutation_p.D647V|NRXN1_uc021vhj.1_Missense_Mutation_p.D607V|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 611 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 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 T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:69046427T>C uc010fdg.3 + 8 1595 c.1176T>C c.(1174-1176)tcT>tcC p.S392S ARHGAP25_uc010yql.2_Silent_p.S352S|ARHGAP25_uc002sev.3_Silent_p.S385S|ARHGAP25_uc002sew.3_Silent_p.S384S|ARHGAP25_uc002sex.3_Silent_p.S385S NM_001007231 NP_001007232 P42331 RHG25_HUMAN Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA. 391 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 TCCGAATTTCTAGGACAGACA 0.532 LMAN2L 81562 broad.mit.edu 37 2 97400183 97400183 + Silent SNP G G C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:97400183G>C uc002swv.3 - 2 423 c.387C>G c.(385-387)ggC>ggG p.G129G LMAN2L_uc002swu.3_Silent_p.G129G|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_Missense_Mutation_p.A12G|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_Missense_Mutation_p.A12G|LMAN2L_uc010yux.2_Missense_Mutation_p.A12G NM_001142292 NP_001135764 Q9H0V9 LMA2L_HUMAN Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA. 129 L-type lectin-like. 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 NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 AGATTGCCAAGCCATCCCCAT 0.473 MFSD9 84804 broad.mit.edu 37 2 103340253 103340253 + Missense_Mutation SNP G G C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:103340253G>C uc002tcb.2 - 4 611 c.543C>G c.(541-543)atC>atG p.I181M MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.I120M NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 181 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CGGGGCCCAAGATGAAGCCCA 0.502 FIGN 55137 broad.mit.edu 37 2 164466661 164466661 + Missense_Mutation SNP C C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:164466661C>T uc002uck.1 - 2 1992 c.1681G>A c.(1681-1683)Gga>Aga p.G561R NM_018086 NP_060556 Q5HY92 FIGN_HUMAN Homo sapiens fidgetin (FIGN), mRNA. 561 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TCTGCTTCTCCTAACCACTTG 0.493 CPO 130749 broad.mit.edu 37 2 207827161 207827161 + Missense_Mutation SNP A A T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:207827161A>T uc002vby.2 + 6 646 c.600A>T c.(598-600)caA>caT p.Q200H NM_173077 NP_775100 Q8IVL8 CBPO_HUMAN Homo sapiens carboxypeptidase O (CPO), mRNA. 200 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 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 C T rs150119101 TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr2:228881144C>T uc002vpq.2 - 6 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 Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1476 cytoplasm protein binding p.A1475V(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 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 C A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr21:46047750C>A uc002zfp.4 + 0 711 c.662C>A c.(661-663)aCc>aAc p.T221N TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA. 221 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GCTTGCTGCACCACCTCCTGC 0.657 COL7A1 1294 broad.mit.edu 37 3 48612126 48612126 + Missense_Mutation SNP C C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:48612126C>G uc003ctz.2 - 76 6378 c.6377G>C c.(6376-6378)gGt>gCt p.G2126A NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2126 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 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 G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:88205314G>A uc003dqw.3 + 2 829 c.519G>A c.(517-519)tgG>tgA p.W173* NM_173824 NP_776185 Q5JPI3 CC038_HUMAN Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA. 173 apoptosis p.W171*(1) breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:113847759C>T uc003ebd.2 - 8 1430 c.1007_splice c.e8-1 p.G336_splice DRD3_uc010hqn.1_Splice_Site_p.G336_splice|DRD3_uc003ebb.1_Splice_Site_p.G303_splice|DRD3_uc003ebc.1_Splice_Site_p.G336_splice NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 336 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 central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AATGAAGGCCCCTAAGTTGCC 0.478 PPM1L 151742 broad.mit.edu 37 3 160786689 160786689 + Missense_Mutation SNP A A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:160786689A>G uc003fdr.3 + 3 928 c.827A>G c.(826-828)aAc>aGc p.N276S PPM1L_uc003fds.3_Missense_Mutation_p.N97S|PPM1L_uc003fdt.3_Missense_Mutation_p.N149S|PPM1L_uc010hwf.3_Non-coding_Transcript NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA. 276 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)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 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 A C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr3:195969479A>C uc003fwg.3 - 6 692 c.519T>G c.(517-519)taT>taG p.Y173* PCYT1A_uc003fwh.3_Nonsense_Mutation_p.Y173* NM_005017 NP_005008 P49585 PCY1A_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA. 173 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:108866315C>T uc003hyp.3 + 1 763 c.680C>T c.(679-681)gCc>gTc p.A227V CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V NM_183075 NP_898898 Q7Z449 CP2U1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA. 227 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.A227A(1) breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 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 T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:114279919T>C uc003ibe.4 + 37 10245 c.10145T>C c.(10144-10146)aTc>aCc p.I3382T ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3349 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 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 A G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr4:185631267A>G uc003iwq.3 - 7 826 c.756T>C c.(754-756)aaT>aaC p.N252N MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.N252N NM_024629 NP_078905 Q71F23 CENPU_HUMAN Homo sapiens MLF1 interacting protein (MLF1IP), mRNA. 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 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 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 0.348 MTRR 4552 broad.mit.edu 37 5 7875377 7875377 + Missense_Mutation SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:7875377G>A uc003jed.3 + 3 401 c.371G>A c.(370-372)gGt>gAt p.G124D MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA. 124 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CTAGGTCTCGGTGATTCAGAA 0.348 MARCH6 10299 broad.mit.edu 37 5 10423856 10423857 + Frame_Shift_Ins INS - - T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:10423856_10423857insT uc003jet.1 + 22 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 Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 765 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 GGACTGGGCACTTGGAGTCCTG 0.361 RAB24 53917 broad.mit.edu 37 5 176729179 176729179 + Missense_Mutation SNP T T C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr5:176729179T>C uc003mfv.3 - 7 803 c.434_splice c.e7-1 p.N145_splice RAB24_uc003mfw.3_Splice_Site_p.N145_splice|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank NM_130781 NP_570137 Q969Q5 RAB24_HUMAN Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA. 145 autophagy|protein transport|small GTPase mediated signal transduction cytosol|membrane GTP binding|protein binding 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 G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:656375G>A uc003mtg.3 - 0 590 c.570C>T c.(568-570)acC>acT p.T190T EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA. 190 endometrium(3)|large_intestine(1)|lung(7) 11 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 G T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:43250498G>T uc003ouq.1 + 13 2299 c.2020G>T c.(2020-2022)Ggc>Tgc p.G674C TTBK1_uc021yzs.1_5'UTR NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 674 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.G674G(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 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 C G TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr6:152779932C>G uc021zhb.1 - 19 2751 c.2528G>C c.(2527-2529)cGt>cCt p.R843P SYNE1_uc003qot.4_Missense_Mutation_p.R850P|SYNE1_uc003qou.4_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.3_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 Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 843 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 NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 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 C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr7:150390248C>T uc003who.3 + 2 962 c.874C>T c.(874-876)Cac>Tac p.H292Y NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 292 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTGCATACTGCACAGCATGTG 0.328 GIMAP1-GIMAP5 55340 broad.mit.edu 37 7 150440111 150440111 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr7:150440111T>A uc022apw.1 + 5 1636 c.1496T>A c.(1495-1497)cTt>cAt p.L499H GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.L295H NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. TGCAGCATACTTTTTTTCATT 0.368 XKR5 389610 broad.mit.edu 37 8 6681094 6681094 + Missense_Mutation SNP T T A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr8:6681094T>A uc022aqv.1 - 3 737 c.586A>T c.(586-588)Agt>Tgt p.S196C XKR5_uc003wqq.3_Missense_Mutation_p.S33C NM_207411 NP_997294 Q6UX68 XKR5_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA. 196 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGAACCAGACTCAGCACGCGG 0.542 LOC392232 392232 broad.mit.edu 37 8 73150397 73150397 + Missense_Mutation SNP A A T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr8:73150397A>T uc022avu.1 - 5 c.775T>A Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA. GTTATCCACAAAGTTGATGTG 0.403 PTPRD 5789 broad.mit.edu 37 9 8389318 8389318 + Missense_Mutation SNP C C T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:8389318C>T uc003zkk.3 - 36 5043 c.4300G>A c.(4300-4302)Gaa>Aaa p.E1434K PTPRD_uc003zkp.3_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1018K|PTPRD_uc003zks.3_Missense_Mutation_p.E1027K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1024K NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1434 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 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 A T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:86924627A>T uc010mpz.3 - 2 305 c.159T>A c.(157-159)gaT>gaA p.D53E SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.3_5'UTR NM_001199633 NP_001186562 Q9HAS3 S28A3_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA. 53 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 CCTGTTCTTCATCCTGGAAAT 0.428 KIAA1958 158405 broad.mit.edu 37 9 115336719 115336719 + Missense_Mutation SNP G G T TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chr9:115336719G>T uc011lwx.1 + 1 534 c.359G>T c.(358-360)tGt>tTt p.C120F KIAA1958_uc004bgf.1_Missense_Mutation_p.C120F NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 120 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGAGACTCTTGTGACTTCTCC 0.473 NUP62CL 54830 broad.mit.edu 37 X 106397360 106397360 + Missense_Mutation SNP G G C TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:106397360G>C uc004ena.3 - 4 570 c.311C>G c.(310-312)gCt>gGt p.A104G NUP62CL_uc004enb.3_Intron NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA. 104 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 ATGGTCCCAAGCATTGACCTG 0.388 UBE2NL 389898 broad.mit.edu 37 X 142967486 142967487 + Missense_Mutation DNP AG AG TA TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:142967486_142967487AG>TA uc004fca.3 + 0 314_315 c.284_285AG>TA c.(283-285)aag>aTA p.K95I NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 95 acid-amino acid ligase activity p.K95*(1) breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) TTGAAAGATAAGTGGTCCCCAG 0.421 GABRQ 55879 broad.mit.edu 37 X 151808911 151808911 + Silent SNP G G A TCGA-14-0871-01A-01W-0424-08 TCGA-14-0871-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cc45f48-0967-42dc-8035-e76c6bd0a3fd 7b4f35d6-c654-4632-9738-9e80fc483b97 g.chrX:151808911G>A uc004ffp.1 + 1 242 c.222G>A c.(220-222)ctG>ctA p.L74L NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 74 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 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCCGCCTGAGACCGAATT 0.463