Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample GBP2 2634 broad.mit.edu 37 1 89587611 89587611 + Silent SNP G G C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:89587611G>C ENST00000370466.3 - 2 307 c.39C>G c.(37-39)ctC>ctG p.L13L NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 13 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity p.L13L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TGTTATCAATGAGGCTCATTG 0.498 5 252 --- --- --- --- GSTM5 2949 broad.mit.edu 37 1 110256100 110256100 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:110256100A>G ENST00000369813.1 + 2 954 c.49A>G c.(49-51)Atc>Gtc p.I17V GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Missense_Mutation_p.I77V P46439 GSTM5_HUMAN glutathione S-transferase mu 5 59 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity p.?(1) NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTTCCCATCTATCCAGCTGCC 0.592 84 186 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155449745 155449745 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:155449745C>A ENST00000368346.3 - 3 3555 c.2916G>T c.(2914-2916)aaG>aaT p.K972N ASH1L_ENST00000392403.3_Missense_Mutation_p.K972N Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 972 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.K972N(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CATTGTTTCTCTTGGTAATTT 0.343 4 240 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158612201 158612201 + Splice_Site SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:158612201C>T ENST00000368147.4 - 33 4917 c.4737G>A c.(4735-4737)aaG>aaA p.K1579K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.K1579K(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGAGCTTTACCTTCATGGCCT 0.393 9 269 --- --- --- --- SUCO 51430 broad.mit.edu 37 1 172501831 172501831 + Silent SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:172501831C>T ENST00000367723.4 + 1 343 c.219C>T c.(217-219)aaC>aaT p.N73N SUCO_ENST00000608151.1_Silent_p.N73N NM_016227.2 NP_057311.3 SUN domain containing ossification factor p.N73N(1) ACTTCTCTAACAAAACCATGG 0.498 6 78 --- --- --- --- ARID4B 51742 broad.mit.edu 37 1 235345029 235345029 + Missense_Mutation SNP T T C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr1:235345029T>C ENST00000264183.3 - 20 3702 c.3205A>G c.(3205-3207)Att>Gtt p.I1069V ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1069 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.I1069V(1) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCCACCTCAATTGTGCTATCA 0.493 32 54 --- --- --- --- SRSF7 6432 broad.mit.edu 37 2 38976716 38976716 + Missense_Mutation SNP T T A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr2:38976716T>A ENST00000313117.6 - 3 578 c.341A>T c.(340-342)cAt>cTt p.H114L SRSF7_ENST00000446327.2_Missense_Mutation_p.H114L|SRSF7_ENST00000409276.1_Missense_Mutation_p.H114L NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 114 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding p.H114L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ATAAGCATAATGTCCCTTTTC 0.413 27 279 --- --- --- --- CCDC85A 114800 broad.mit.edu 37 2 56603059 56603059 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr2:56603059C>A ENST00000407595.2 + 5 2063 c.1561C>A c.(1561-1563)Cat>Aat p.H521N RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 521 p.H521N(1) breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCTGTGGTACATTCTCTTAA 0.498 32 60 --- --- --- --- CCDC115 84317 broad.mit.edu 37 2 131096732 131096732 + Silent SNP G G C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr2:131096732G>C ENST00000259229.2 - 5 727 c.504C>G c.(502-504)ctC>ctG p.L168L CCDC115_ENST00000409127.1_Silent_p.L163L|CCDC115_ENST00000437688.2_3'UTR NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 168 endosome|lysosome p.L168L(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) GTTTCTCTTGGAGTCCCCGGA 0.612 7 62 --- --- --- --- TLK1 9874 broad.mit.edu 37 2 171862701 171862701 + Silent SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr2:171862701A>G ENST00000442919.2 - 18 2331 c.1716T>C c.(1714-1716)ggT>ggC p.G572G TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000434911.2_Silent_p.G524G|TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000431350.2_Silent_p.G620G NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 620 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.G572G(2)|p.G620G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTCCATCTACACCATAGCTAT 0.398 15 213 --- --- --- --- TTLL3 26140 broad.mit.edu 37 3 9870957 9870957 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:9870957C>A ENST00000383827.1 + 4 3077 c.796C>A c.(796-798)Ccc>Acc p.P266T TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 478 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity p.P478T(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CACGATGGCACCCTCCACAGC 0.622 59 91 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41266136 41266136 + Missense_Mutation SNP T T C rs121913407 TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:41266136T>C ENST00000349496.5 + 3 413 c.133T>C c.(133-135)Tct>Cct p.S45P CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 45 Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CACAGCTCCTTCTCTGAGTGG 0.502 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 105 --- --- --- --- ZKSCAN7 55888 broad.mit.edu 37 3 44612332 44612332 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:44612332A>G ENST00000273320.3 + 6 2159 c.1730A>G c.(1729-1731)aAg>aGg p.K577R ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.K577R|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.K577R(1) ACTGGGGAAAAGCCATACAAA 0.433 3 254 --- --- --- --- SACM1L 22908 broad.mit.edu 37 3 45761023 45761023 + Silent SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:45761023A>G ENST00000389061.5 + 8 813 c.609A>G c.(607-609)ggA>ggG p.G203G SACM1L_ENST00000418611.1_Silent_p.G100G|SACM1L_ENST00000541314.1_Silent_p.G142G NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 203 SAC. Golgi apparatus p.G203G(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) CTATTAATGGAAAATACTTTG 0.338 6 77 --- --- --- --- ATP6V1A 523 broad.mit.edu 37 3 113508598 113508598 + Missense_Mutation SNP G G T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:113508598G>T ENST00000273398.3 + 8 1007 c.899G>T c.(898-900)gGt>gTt p.G300V ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V NM_001690.3 NP_001681.2 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A 300 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.G300V(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGGTTGATGGTAAGGTAGAG 0.353 51 103 --- --- --- --- COL6A5 256076 broad.mit.edu 37 3 130159274 130159274 + Missense_Mutation SNP A A T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:130159274A>T ENST00000265379.6 + 35 6586 c.6092A>T c.(6091-6093)gAt>gTt p.D2031V COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2031 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen p.D70V(1)|p.D2031V(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 ACAGAGTTTGATTTCATCACT 0.423 45 100 --- --- --- --- TBL1XR1 79718 broad.mit.edu 37 3 176755961 176755961 + Splice_Site SNP C C G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:176755961C>G ENST00000430069.1 - 12 1307 c.e12-1 TBL1XR1_ENST00000457928.2_Splice_Site Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding p.?(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TTACTTCATTCTAAAAATAAT 0.323 4 57 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184910384 184910384 + Missense_Mutation SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr3:184910384G>A ENST00000231887.3 - 7 1877 c.1802C>T c.(1801-1803)tCa>tTa p.S601L EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 601 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity p.S601L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCTATACCGTGATAGGAATTT 0.428 34 227 --- --- --- --- USP38 84640 broad.mit.edu 37 4 144133502 144133502 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr4:144133502A>G ENST00000307017.4 + 8 2035 c.1529A>G c.(1528-1530)gAg>gGg p.E510G USP38_ENST00000510377.1_Missense_Mutation_p.E510G NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 510 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.E510G(2) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) ATATTCTTTGAGGCTTCCAGA 0.383 3 232 --- --- --- --- TAS2R1 50834 broad.mit.edu 37 5 9629679 9629679 + Silent SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr5:9629679G>A ENST00000382492.2 - 1 784 c.466C>T c.(466-468)Cta>Tta p.L156L CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 156 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity p.L156L(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AATTTCCTTAGGAAGTATGGG 0.393 8 151 --- --- --- --- LINC00518 221718 broad.mit.edu 37 6 10430364 10430364 + RNA SNP T T C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr6:10430364T>C ENST00000496285.1 - 0 671 NR_027793.1 p.S42G(1) atttggtcactctCATTGAGG 0.443 3 178 --- --- --- --- CROT 54677 broad.mit.edu 37 7 86990868 86990868 + Missense_Mutation SNP T T A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:86990868T>A ENST00000331536.3 + 5 588 c.403T>A c.(403-405)Tac>Aac p.Y135N CROT_ENST00000419147.2_Missense_Mutation_p.Y163N|CROT_ENST00000442291.1_Missense_Mutation_p.Y135N NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 135 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.Y135N(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TAACTTGAACTACTGGCAGCT 0.398 6 178 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87082328 87082328 + Silent SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:87082328A>G ENST00000265723.4 - 6 579 c.468T>C c.(466-468)gcT>gcC p.A156A ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000359206.3_Silent_p.A156A NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 156 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.A156A(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GTCGTAGAATAGCATGAAAAA 0.413 3 189 --- --- --- --- GALNT11 63917 broad.mit.edu 37 7 151814291 151814291 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:151814291A>G ENST00000434507.1 + 11 1720 c.1283A>G c.(1282-1284)aAt>aGt p.N428S GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 428 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.N428S(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGCTATGGCAATATCAGTGAG 0.348 104 238 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845758 151845758 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:151845758C>A ENST00000355193.2 - 53 13643 c.13425G>T c.(13423-13425)agG>agT p.R4475S KMT2C_ENST00000262189.6_Missense_Mutation_p.R4418S lysine (K)-specific methyltransferase 2C p.R4418S(1)|p.R4475S(1) GGTTGAGTAGCCTTGCTGGTC 0.488 5 172 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77448983 77448983 + Missense_Mutation SNP T T G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr9:77448983T>G ENST00000451710.3 - 6 837 c.600A>C c.(598-600)agA>agC p.R200S TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 200 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.R200S(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TCCAGATTTTTCTCAAGGAAT 0.403 12 186 --- --- --- --- CUBN 8029 broad.mit.edu 37 10 17032435 17032435 + Silent SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr10:17032435C>T ENST00000377833.4 - 29 4313 c.4248G>A c.(4246-4248)gaG>gaA p.E1416E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1416 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.E1416E(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCAGATACACTCCTTGTTTG 0.517 13 147 --- --- --- --- ZNF518A 9849 broad.mit.edu 37 10 97916435 97916435 + RNA SNP T T G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr10:97916435T>G ENST00000534948.1 + 0 1213 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F119C(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) ATACTCAATTTCAGCTGTTTA 0.388 13 277 --- --- --- --- DAK 26007 broad.mit.edu 37 11 61111398 61111398 + Silent SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr11:61111398G>A ENST00000394900.3 + 12 1282 c.1053G>A c.(1051-1053)cgG>cgA p.R351R NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 351 glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding p.R351R(1) NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AGCGGAGCCGGGTAGCCCCTG 0.602 6 85 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92568131 92568131 + Missense_Mutation SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr11:92568131G>A ENST00000298047.6 + 14 9984 c.9967G>A c.(9967-9969)Gct>Act p.A3323T FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3323 Cadherin 30. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.A3323T(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTCTCAGCGCTGTGGCCAC 0.498 TCGA Ovarian(4;0.039) 17 17 --- --- --- --- METTL25 84190 broad.mit.edu 37 12 82792603 82792603 + Nonsense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr12:82792603C>A ENST00000248306.3 + 4 630 c.561C>A c.(559-561)taC>taA p.Y187* METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 p.Y187*(1) GTAAAGGCTACCTAAGCTCTT 0.318 6 103 --- --- --- --- LHX5 64211 broad.mit.edu 37 12 113909233 113909233 + Missense_Mutation SNP G G A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr12:113909233G>A ENST00000261731.3 - 1 644 c.71C>T c.(70-72)gCg>gTg p.A24V NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 24 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A24V(1) NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 GATGTGCCACGCGCGGTCCAG 0.612 3 16 --- --- --- --- SCARB1 949 broad.mit.edu 37 12 125348169 125348169 + Missense_Mutation SNP G G C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr12:125348169G>C ENST00000339570.5 - 1 294 c.98C>G c.(97-99)cCg>cGg p.P33R SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 33 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 p.P33R(2) 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) GATGAGCGACGGCACCATCAC 0.716 3 15 --- --- --- --- USP12 219333 broad.mit.edu 37 13 27649444 27649444 + Silent SNP T T A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr13:27649444T>A ENST00000282344.6 - 7 1072 c.816A>T c.(814-816)acA>acT p.T272T NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 272 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.T272T(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) AAGAGAGTTTTGTATATCGAT 0.358 42 61 --- --- --- --- PCNXL4 64430 broad.mit.edu 37 14 60591549 60591549 + Missense_Mutation SNP A A G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr14:60591549A>G ENST00000406854.1 + 9 3214 c.2660A>G c.(2659-2661)gAc>gGc p.D887G PCNXL4_ENST00000404681.2_Missense_Mutation_p.D887G|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D653G|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D653G|PCNXL4_ENST00000535349.1_Missense_Mutation_p.D94G pecanex-like 4 (Drosophila) p.D653G(1)|p.D887G(1) CCTGCTGTTGACAAAGGAAAA 0.438 13 384 --- --- --- --- VIPAS39 63894 broad.mit.edu 37 14 77896064 77896064 + Missense_Mutation SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr14:77896064C>T ENST00000553888.1 - 17 1736 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q VIPAS39_ENST00000557658.1_Missense_Mutation_p.R409Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R360Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R435Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R396Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R409Q NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog p.R409Q(1) TTCGACAACCCGATGGAAGCC 0.502 25 414 --- --- --- --- TJP1 7082 broad.mit.edu 37 15 30025006 30025006 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr15:30025006C>A ENST00000346128.6 - 14 2224 c.1750G>T c.(1750-1752)Gcc>Tcc p.A584S TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S|TJP1_ENST00000356107.6_Missense_Mutation_p.A584S NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 584 SH3. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.A584S(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TGTACACTGGCTAGCTGCTCA 0.403 40 45 --- --- --- --- ARHGAP11B 89839 broad.mit.edu 37 15 30925726 30925726 + Missense_Mutation SNP A A C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr15:30925726A>C ENST00000428041.2 + 3 379 c.234A>C c.(232-234)gaA>gaC p.E78D NM_001039841.1 NP_001034930.1 Q3KRB8 RHGBB_HUMAN Rho GTPase activating protein 11B 78 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.E78D(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTTTAGAAGAACATATTCATA 0.373 4 186 --- --- --- --- AFG3L2 10939 broad.mit.edu 37 18 12358924 12358924 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr18:12358924C>A ENST00000269143.3 - 8 1002 c.771G>T c.(769-771)atG>atT p.M257I NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 257 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.M257I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CCGTAGGCAGCATGCTCAGCA 0.552 3 33 --- --- --- --- MED16 10025 broad.mit.edu 37 19 881676 881676 + Missense_Mutation SNP G G T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr19:881676G>T ENST00000312090.6 - 7 1174 c.1024C>A c.(1024-1026)Cta>Ata p.L342I MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000269814.4_Missense_Mutation_p.L342I Q9Y2X0 MED16_HUMAN mediator complex subunit 16 342 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding p.L342I(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCCGATAGGATCCGCCAT 0.577 4 136 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38976722 38976722 + Missense_Mutation SNP C C A TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr19:38976722C>A ENST00000355481.4 + 34 5558 c.5427C>A c.(5425-5427)gaC>gaA p.D1809E RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E|RYR1_ENST00000359596.3_Missense_Mutation_p.D1809E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1809 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.D1809E(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCTGCGGGACAAGGCACTGA 0.711 43 57 --- --- --- --- A1BG 1 broad.mit.edu 37 19 58863782 58863782 + Silent SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr19:58863782C>T ENST00000263100.3 - 4 541 c.480G>A c.(478-480)gaG>gaA p.E160E A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 160 Ig-like V-type 2. extracellular region p.E160E(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CCTCAGGCACCTCCAGAAACT 0.627 12 207 --- --- --- --- PHF20 51230 broad.mit.edu 37 20 34389529 34389529 + Splice_Site SNP T T G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr20:34389529T>G ENST00000374012.3 + 2 212 c.e2+2 PHF20_ENST00000481202.1_Splice_Site|PHF20_ENST00000439301.1_Splice_Site Q9BVI0 PHF20_HUMAN PHD finger protein 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding p.?(1) breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) AAAAAACTGGTACTTTTACAT 0.413 4 74 --- --- --- --- OSER1 51526 broad.mit.edu 37 20 42826279 42826279 + Missense_Mutation SNP T T C TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr20:42826279T>C ENST00000372970.2 - 6 472 c.292A>G c.(292-294)Ata>Gta p.I98V OSER1_ENST00000255174.2_Missense_Mutation_p.I98V oxidative stress responsive serine-rich 1 p.I98V(1) GAAGACGCTATTGTACTGCAA 0.488 21 159 --- --- --- --- APOBEC3D 140564 broad.mit.edu 37 22 39421246 39421246 + Silent SNP C C T TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr22:39421246C>T ENST00000216099.8 + 3 789 c.382C>T c.(382-384)Ctg>Ttg p.L128L APOBEC3D_ENST00000381568.4_Silent_p.L128L|APOBEC3D_ENST00000427494.2_Intron NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding p.L128L(2) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CAATGTCACCCTGACCATCTC 0.572 7 103 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151853293 151853293 + Frame_Shift_Del DEL C C - TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:151853293delC ENST00000355193.2 - 46 12198 c.11980delG c.(11980-11982)gaafs p.E3994fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.E3937fs lysine (K)-specific methyltransferase 2C ATCATACCTTCATGGCTCACT 0.438 22 271 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151859486 151859487 + Frame_Shift_Ins INS - - TT TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr7:151859486_151859487insTT ENST00000355193.2 - 43 11393_11394 c.11175_11176insAA c.(11173-11178)acagagfs p.E3726fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.E3726fs lysine (K)-specific methyltransferase 2C GGGCAGGACTCTGTCTCAGCCT 0.480 196 453 --- --- --- --- DSCC1 79075 broad.mit.edu 37 8 120850633 120850638 + In_Frame_Del DEL CACCAG CACCAG - TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr8:120850633_120850638delCACCAG ENST00000313655.4 - 8 1148_1153 c.934_939delCTGGTG c.(934-939)ctggtgdel p.LV312del NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 312 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTGTCTATCCACCAGCGCTAAACCC 0.364 47 170 --- --- --- --- CYC1 1537 broad.mit.edu 37 8 145151373 145151373 + Frame_Shift_Del DEL A A - TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr8:145151373delA ENST00000318911.4 + 4 660 c.587delA c.(586-588)gacfs p.D196fs NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 196 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TTGCCCCCTGACCTCAGCTAC 0.577 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 145 --- --- --- --- C9orf84 158401 broad.mit.edu 37 9 114489999 114490000 + Frame_Shift_Ins INS - - CCAAA TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr9:114489999_114490000insCCAAA ENST00000394779.3 - 9 1682_1683 c.1438_1439insTTTGG c.(1438-1440)gacfs p.D480fs C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.D480fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.D519fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.D519fs NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 519 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GCTCAAAAGGTCCAAATCATTC 0.332 22 326 --- --- --- --- CDKN1B 1027 broad.mit.edu 37 12 12870803 12870803 + Frame_Shift_Del DEL C C - TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr12:12870803delC ENST00000228872.4 + 1 746 c.30delC c.(28-30)agcfs p.S10fs CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 10 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) CTAACGGGAGCCCTAGCCTGG 0.607 10 77 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46246234 46246241 + Frame_Shift_Del DEL GTGGTACT GTGGTACT - TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx f691ec8f-d3dd-4385-bc02-c29254d37c37 12e9a8b5-35d2-401b-aa04-653ab14c2331 g.chr12:46246234_46246241delGTGGTACT ENST00000334344.6 + 15 4500_4507 c.4328_4335delGTGGTACT c.(4327-4335)agtggtactfs p.SGT1443fs ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1443 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGCAATTTAGTGGTACTGATTTGCTTA 0.418 """N, S, F""" hepatocellular carcinoma 67 315 --- --- --- ---