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 KIF1B 23095 broad.mit.edu 37 1 10425617 10425617 + Missense_Mutation SNP G C C TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:10425617G>C uc001aqx.3 + 43 4865 c.4663G>C c.(4663-4665)GAA>CAA p.E1555Q KIF1B_uc001aqw.3_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1541Q NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1555 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CACTACCTTTGAAAGCGCCAT 0.552 CLCNKB 1188 broad.mit.edu 37 1 16374889 16374889 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:16374889C>T uc001axw.3 + 6 630 c.550C>T c.(550-552)CGC>TGC p.R184C FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R184C|CLCNKB_uc001axy.3_5'Flank NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 184 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) GGGCCGTGTGCGCACCACGAC 0.662 CTH 1491 broad.mit.edu 37 1 70881655 70881655 + Missense_Mutation SNP G T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:70881655G>T uc001dfd.2 + 2 329 c.185G>T c.(184-186)CGT>CTT p.R62L CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.R62L|CTH_uc010oqq.1_Missense_Mutation_p.R62L NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 62 Substrate. cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GAATATAGCCGTTCTGGAAAT 0.378 SPRR2B 6701 broad.mit.edu 37 1 153043127 153043127 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:153043127G>A uc001fbg.2 - 2 252 c.189C>T c.(187-189)TGC>TGT p.C63C SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron NM_001017418 NP_001017418 P35325 SPR2B_HUMAN small proline-rich protein 2B 63 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACTTTGGCTGGCAGGGTGGGG 0.557 CHRNB2 1141 broad.mit.edu 37 1 154542048 154542048 + Nonsense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:154542048C>T uc001ffg.2 + 2 439 c.175C>T c.(175-177)CAG>TAG p.Q59* NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 59 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GGTGACAGTACAGCTTATGGT 0.557 OBSCN 84033 broad.mit.edu 37 1 228564849 228564849 + Silent SNP A G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:228564849A>G uc009xez.1 + 101 23180 c.23136A>G c.(23134-23136)GCA>GCG p.A7712A OBSCN_uc001hsr.1_Silent_p.A2341A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7712 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACAAGACAGCAGTGCTGCGCG 0.692 ZP4 57829 broad.mit.edu 37 1 238050695 238050695 + Silent SNP A G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:238050695A>G uc001hym.2 - 5 720 c.720T>C c.(718-720)ACT>ACC p.T240T LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 240 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGCCACAGGAAGTAAATGGAA 0.502 C1orf150 148823 broad.mit.edu 37 1 247712494 247712494 + Missense_Mutation SNP A G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr1:247712494A>G uc001idf.2 + 1 46 c.1A>G c.(1-3)ATG>GTG p.M1V C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN hypothetical protein LOC148823 1 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTGTGAAAAGATGGGAAATTA 0.488 PTEN 5728 broad.mit.edu 37 10 89712007 89712007 + Nonsense_Mutation SNP G T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr10:89712007G>T uc001kfb.2 + 7 1656 c.625G>T c.(625-627)GGA>TGA p.G209* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 209 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GTTCAGTGGCGGAACTTGCAG 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PIPSL 266971 broad.mit.edu 37 10 95718836 95718836 + Missense_Mutation SNP A G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr10:95718836A>G uc009xuj.2 - 1 2837 c.2318T>C c.(2317-2319)GTT>GCT p.V773A NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 CATGGCACAAACAATCTTCTC 0.537 SMC3 9126 broad.mit.edu 37 10 112350788 112350788 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr10:112350788G>A uc001kze.2 + 17 1836 c.1710G>A c.(1708-1710)ACG>ACA p.T570T NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 570 Flexible hinge. cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) AAGTCAGCACGAAGATTTTAA 0.363 TRIM44 54765 broad.mit.edu 37 11 35747531 35747531 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr11:35747531G>A uc001mwi.2 + 3 1114 c.807G>A c.(805-807)GTG>GTA p.V269V NM_017583 NP_060053 Q96DX7 TRI44_HUMAN DIPB protein 269 intracellular protein binding|zinc ion binding skin(1) 1 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) TTCAGAAAGTGATTGCTGATG 0.423 MS4A14 84689 broad.mit.edu 37 11 60183896 60183896 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr11:60183896G>A uc001npj.2 + 5 2020 c.1455G>A c.(1453-1455)CGG>CGA p.R485R MS4A14_uc001npi.2_Silent_p.R373R|MS4A14_uc001npn.2_Silent_p.R223R|MS4A14_uc001npk.2_Silent_p.R468R|MS4A14_uc001npl.2_Silent_p.R223R|MS4A14_uc001npm.2_Silent_p.R223R NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 485 Gln-rich. integral to membrane receptor activity breast(1) 1 CCTCAAGACGGCATTCCTTAA 0.393 PRPF19 27339 broad.mit.edu 37 11 60665709 60665709 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr11:60665709G>A uc001nqf.2 - 14 1382 c.1175C>T c.(1174-1176)TCG>TTG p.S392L NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 392 WD 5. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 GATGGGGCCCGAGTGGCCAGG 0.532 HEPHL1 341208 broad.mit.edu 37 11 93778980 93778980 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr11:93778980G>A uc001pep.2 + 2 469 c.312G>A c.(310-312)TTG>TTA p.L104L NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 104 Plastocyanin-like 1.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GCCCCATCTTGAGGGCCGAAG 0.468 OR10G8 219869 broad.mit.edu 37 11 123900691 123900691 + Missense_Mutation SNP G A A rs116699538 byFrequency TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr11:123900691G>A uc001pzp.1 + 1 362 c.362G>A c.(361-363)CGC>CAC p.R121H NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCCTGTGATCGCTACCTGGCC 0.567 DENND5B 160518 broad.mit.edu 37 12 31545306 31545306 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr12:31545306G>A uc001rki.1 - 19 3547 c.3361C>T c.(3361-3363)CTG>TTG p.L1121L DENND5B_uc001rkh.1_Silent_p.L1156L|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1121 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 TCTCCACACAGCAACACGGTG 0.468 MLL2 8085 broad.mit.edu 37 12 49427983 49427983 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr12:49427983C>T uc001rta.3 - 38 10607 c.10607G>A c.(10606-10608)CGC>CAC p.R3536H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3536 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCGGGACTTGCGGTGTACACC 0.557 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OR6C6 283365 broad.mit.edu 37 12 55688853 55688853 + Missense_Mutation SNP G A A rs77411445 TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr12:55688853G>A uc010sph.1 - 1 164 c.164C>T c.(163-165)ACG>ATG p.T55M NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 ATACATTGGCGTCTTGAGCCG 0.398 AVPR1A 552 broad.mit.edu 37 12 63543656 63543656 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr12:63543656C>T uc001sro.1 - 1 2935 c.961G>A c.(961-963)GTC>ATC p.V321I NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 321 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CCGGTCCAGACGGACATGGGA 0.403 NOS1 4842 broad.mit.edu 37 12 117703242 117703242 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr12:117703242C>T uc001twm.1 - 12 2701 c.2015G>A c.(2014-2016)CGC>CAC p.R672H NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 672 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCCCGGCAGCGGTACTCATT 0.602 GPR12 2835 broad.mit.edu 37 13 27332980 27332980 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr13:27332980G>A uc010aal.2 - 2 1207 c.985C>T c.(985-987)CGC>TGC p.R329C GPR12_uc010tdl.1_Missense_Mutation_p.R170C NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 329 Cytoplasmic (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CTGGGCGAGCGCGCTCTCTGG 0.537 ADCY4 196883 broad.mit.edu 37 14 24795366 24795366 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr14:24795366C>T uc001wov.2 - 12 1580 c.1574G>A c.(1573-1575)CGT>CAT p.R525H ADCY4_uc001wow.2_Missense_Mutation_p.R525H|ADCY4_uc010toh.1_Missense_Mutation_p.R211H|ADCY4_uc001wox.2_Missense_Mutation_p.R525H|ADCY4_uc001woy.2_Missense_Mutation_p.R525H NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 525 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CCGGGGGGTACGGCTCCTGCA 0.592 GALC 2581 broad.mit.edu 37 14 88431916 88431916 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr14:88431916G>A uc001xvt.2 - 9 1365 c.966C>T c.(964-966)TGC>TGT p.C322C GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.C296C|GALC_uc010tvy.1_Silent_p.C299C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.1_Silent_p.C322C NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 322 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 TCATCAACCCGCATCTCCCAT 0.448 AHNAK2 113146 broad.mit.edu 37 14 105415138 105415138 + Missense_Mutation SNP A C C TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr14:105415138A>C uc010axc.1 - 7 6770 c.6650T>G c.(6649-6651)GTG>GGG p.V2217G AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2217 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTCACGTCCACCTGGCCAGC 0.627 GOLGA6L6 727832 broad.mit.edu 37 15 20743796 20743796 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr15:20743796C>T uc001ytk.2 - 4 499 c.408G>A c.(406-408)ACG>ACA p.T136T NM_001145004 NP_001138476 A8MZA4 GG6L6_HUMAN golgi autoantigen, golgin subfamily a, 6-like 6 136 Potential. 0 TTTTCTGACACGTAAGGATTC 0.493 MKRN3 7681 broad.mit.edu 37 15 23810982 23810982 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr15:23810982C>T uc001ywh.3 + 1 529 c.53C>T c.(52-54)GCA>GTA p.A18V MKRN3_uc001ywi.2_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 18 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGGGCCCAGGCAGGTGCTGAG 0.637 NEO1 4756 broad.mit.edu 37 15 73562540 73562540 + Nonsense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr15:73562540G>A uc002avm.3 + 17 2826 c.2684G>A c.(2683-2685)TGG>TAG p.W895* NEO1_uc010ukx.1_Nonsense_Mutation_p.W895*|NEO1_uc010uky.1_Nonsense_Mutation_p.W895*|NEO1_uc010ukz.1_Nonsense_Mutation_p.W319*|NEO1_uc002avn.3_Nonsense_Mutation_p.W544* NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 895 Extracellular (Potential).|Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 ACCGTCCGATGGAAAACCAAC 0.448 NOMO1 23420 broad.mit.edu 37 16 14968903 14968903 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr16:14968903G>A uc002dcv.2 + 19 2131 c.2065G>A c.(2065-2067)GAC>AAC p.D689N NM_014287 NP_055102 Q15155 NOMO1_HUMAN nodal modulator 1 precursor 689 Extracellular (Potential). integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding ovary(1) 1 GTCTTCCATCGACAGTGAACC 0.562 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G A A rs150520281 by1000genomes TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr16:21817457G>A uc010vbl.1 - 7 603 c.106C>T c.(106-108)CTG>TTG p.L36L uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 CTTACATCCAGCTTGAGTAGT 0.254 SCNN1B 6338 broad.mit.edu 37 16 23366788 23366788 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr16:23366788G>A uc002dln.2 + 4 930 c.754G>A c.(754-756)GGA>AGA p.G252R NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 252 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CTGCCTATTCGGAGCTGAGCC 0.488 ATP2A1 487 broad.mit.edu 37 16 28914740 28914740 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr16:28914740G>A uc002dro.1 + 21 3143 c.2959G>A c.(2959-2961)GTT>ATT p.V987I uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 987 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTCAAGTTCGTTGCTCGGAA 0.522 C17orf87 388325 broad.mit.edu 37 17 5118261 5118261 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr17:5118261G>A uc002gbh.2 - 4 275 c.242C>T c.(241-243)CCG>CTG p.P81L uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Missense_Mutation_p.P74L|C17orf87_uc002gbi.2_Missense_Mutation_p.P74L NM_207103 NP_996986 Q6UWF3 CQ087_HUMAN hypothetical protein LOC388325 81 integral to membrane ovary(1) 1 TGGCAGAGGCGGTAATTGAAC 0.433 DNAH2 146754 broad.mit.edu 37 17 7722376 7722376 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr17:7722376C>T uc002giu.1 + 70 10824 c.10810C>T c.(10810-10812)CGG>TGG p.R3604W DNAH2_uc010cnm.1_Missense_Mutation_p.R542W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3604 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGACTTGGCGCGGGAGGTAAG 0.607 KRT33A 3883 broad.mit.edu 37 17 39506774 39506774 + Silent SNP C T T rs61736449 byFrequency TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr17:39506774C>T uc002hwk.1 - 1 283 c.246G>A c.(244-246)GCG>GCA p.A82A NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 82 Coil 1A.|Rod. A -> T (in Ref. 3; BAG36784). intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TCTCCAGCTCCGCGTTGTCCC 0.602 ZNF516 9658 broad.mit.edu 37 18 74153649 74153649 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr18:74153649G>A uc010dqx.1 - 2 1597 c.1362C>T c.(1360-1362)CGC>CGT p.R454R ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGACGTACTCGCGCCTGTCCT 0.731 GRIN3B 116444 broad.mit.edu 37 19 1005285 1005285 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr19:1005285C>T uc002lqo.1 + 3 1785 c.1785C>T c.(1783-1785)TAC>TAT p.Y595Y NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 595 Cytoplasmic (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TCACCGTGTACGAGTGGCGTA 0.652 DENND1C 79958 broad.mit.edu 37 19 6472910 6472910 + Missense_Mutation SNP A C C TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr19:6472910A>C uc002mfe.2 - 15 1240 c.1148T>G c.(1147-1149)CTG>CGG p.L383R DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.L339R NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 383 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 CTGTTTGAACAGCTGCAGGTG 0.627 CD209 30835 broad.mit.edu 37 19 7809880 7809880 + Missense_Mutation SNP C T T rs139712001 byFrequency TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr19:7809880C>T uc002mht.2 - 5 914 c.847G>A c.(847-849)GCC>ACC p.A283T CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 283 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 TCTTTGCAGGCGGTGATGGAG 0.582 ZNF761 388561 broad.mit.edu 37 19 53959098 53959098 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr19:53959098C>T uc010eqp.2 + 7 1795 c.1337C>T c.(1336-1338)ACC>ATC p.T446I ZNF761_uc010ydy.1_Missense_Mutation_p.T392I|ZNF761_uc002qbt.1_Missense_Mutation_p.T392I NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 446 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TGTGGAAAGACCTTTAGCCGG 0.383 XDH 7498 broad.mit.edu 37 2 31571198 31571198 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr2:31571198C>T uc002rnv.1 - 28 3162 c.3083G>A c.(3082-3084)GGC>GAC p.G1028D NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1028 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAGCACAGAGCCATCTGTGTA 0.517 SERTAD2 9792 broad.mit.edu 37 2 64863694 64863694 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr2:64863694C>T uc002sde.1 - 2 609 c.312G>A c.(310-312)CCG>CCA p.P104P NM_014755 NP_055570 Q14140 SRTD2_HUMAN SERTA domain containing 2 104 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus 0 TGAAGGCCGGCGGGGCCTCTC 0.697 TTN 7273 broad.mit.edu 37 2 179474028 179474028 + Nonsense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr2:179474028G>A uc010zfg.1 - 222 44529 c.44305C>T c.(44305-44307)CGA>TGA p.R14769* uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15696 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAGAATCTCGGACGCGTAGC 0.453 CEP250 11190 broad.mit.edu 37 20 34092288 34092288 + Missense_Mutation SNP C G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr20:34092288C>G uc002xcm.2 + 31 6762 c.6091C>G c.(6091-6093)CTC>GTC p.L2031V CEP250_uc010zve.1_Missense_Mutation_p.L1399V NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 2031 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGACCAGGATCTCCGATACCA 0.597 SUSD2 56241 broad.mit.edu 37 22 24579586 24579586 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr22:24579586C>T uc002zzn.1 + 3 455 c.411C>T c.(409-411)TCC>TCT p.S137S NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 137 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACGGCCACTCCTTCCCTCGTG 0.642 CCDC157 550631 broad.mit.edu 37 22 30766543 30766543 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr22:30766543G>A uc011aku.1 + 5 1309 c.649G>A c.(649-651)GCC>ACC p.A217T CCDC157_uc011akv.1_Missense_Mutation_p.A217T NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 217 central_nervous_system(1) 1 CATTGAGACGGCCCTGGTGCC 0.622 GAL3ST1 9514 broad.mit.edu 37 22 30951178 30951178 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr22:30951178C>T uc003aig.1 - 4 1174 c.1034G>A c.(1033-1035)TGC>TAC p.C345Y GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 345 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 CCCGTCGATGCAGATGGTCCG 0.711 MFNG 4242 broad.mit.edu 37 22 37882098 37882098 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr22:37882098C>T uc003ass.1 - 1 288 c.118G>A c.(118-120)GAG>AAG p.E40K MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Missense_Mutation_p.E40K|CARD10_uc003ast.1_Intron NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 40 Lumenal (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) TGGCTCAGCTCGGGGGTCCCT 0.657 DCHS2 54798 broad.mit.edu 37 4 155243612 155243612 + Silent SNP G A A rs142864637 byFrequency TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr4:155243612G>A uc003inw.2 - 13 2682 c.2682C>T c.(2680-2682)GAC>GAT p.D894D NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 894 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CATTGTTGGCGTCAATCTTAA 0.358 ZFP42 132625 broad.mit.edu 37 4 188924640 188924640 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr4:188924640G>A uc003izg.1 + 3 924 c.679G>A c.(679-681)GTT>ATT p.V227I ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 227 C2H2-type 2. female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAGCGTTCGTTGAGAGCTC 0.502 PCDHB12 56124 broad.mit.edu 37 5 140590123 140590123 + Silent SNP C T T rs147374257 TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr5:140590123C>T uc003liz.2 + 1 1833 c.1644C>T c.(1642-1644)CGC>CGT p.R548R PCDHB12_uc011dak.1_Silent_p.R211R NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 548 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGGTGCGCGTGCTGGTGC 0.711 GABRA6 2559 broad.mit.edu 37 5 161113339 161113339 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr5:161113339C>T uc003lyu.2 + 2 480 c.142C>T c.(142-144)CGG>TGG p.R48W NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 48 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAATCGGCTGCGGCCGGGATT 0.483 TCGA Ovarian(5;0.080) MICALL2 79778 broad.mit.edu 37 7 1485031 1485031 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr7:1485031C>T uc003skj.3 - 6 822 c.675G>A c.(673-675)GGG>GGA p.G225G MICALL2_uc003ski.3_5'Flank NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 225 LIM zinc-binding. cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCTTGTAGGCCCCCGAGTGCA 0.692 CARD11 84433 broad.mit.edu 37 7 2984147 2984147 + Missense_Mutation SNP G C C TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr7:2984147G>C uc003smv.2 - 5 787 c.383C>G c.(382-384)ACG>AGG p.T128R NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 128 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.T121M(2) haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAGGAAGTGCGTGAGGCCCTC 0.622 Mis DLBCL EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PIK3CG 5294 broad.mit.edu 37 7 106508432 106508432 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr7:106508432G>A uc003vdv.3 + 2 511 c.426G>A c.(424-426)CCG>CCA p.P142P PIK3CG_uc003vdu.2_Silent_p.P142P|PIK3CG_uc003vdw.2_Silent_p.P142P NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 142 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 AGCGGCACCCGCCCTCCGAGG 0.637 ADAM2 2515 broad.mit.edu 37 8 39613418 39613418 + Silent SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr8:39613418G>A uc003xnj.2 - 16 1701 c.1626C>T c.(1624-1626)TGC>TGT p.C542C ADAM2_uc003xnk.2_Silent_p.C523C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 542 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTAATTTTCCGCACTGCAGAT 0.249 LMX1B 4010 broad.mit.edu 37 9 129453336 129453336 + Missense_Mutation SNP A G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chr9:129453336A>G uc004bqj.2 + 3 529 c.479A>G c.(478-480)GAG>GGG p.E160G LMX1B_uc004bqi.2_Missense_Mutation_p.E160G|LMX1B_uc011maa.1_Missense_Mutation_p.E160G NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 160 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCCCCGACGAGTCCGACTCC 0.667 Nail-Patella_Syndrome GYG2 8908 broad.mit.edu 37 X 2799104 2799104 + Silent SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chrX:2799104C>T uc004cqs.1 + 12 1638 c.1356C>T c.(1354-1356)GCC>GCT p.A452A GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc004cqx.1_Silent_p.A350A|GYG2_uc010ndc.1_Silent_p.A230A NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 452 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCGACCTGGCCGTCTCTGTTT 0.542 ASB9 140462 broad.mit.edu 37 X 15266989 15266989 + Nonsense_Mutation SNP C A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chrX:15266989C>A uc004cwl.2 - 6 884 c.637G>T c.(637-639)GAG>TAG p.E213* ASB9_uc004cwk.2_Nonsense_Mutation_p.E213*|ASB9_uc004cwm.2_Nonsense_Mutation_p.E203*|ASB9_uc010ner.2_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184* NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 213 ANK 6. intracellular signal transduction 0 Hepatocellular(33;0.183) CAGGCCAGCTCTTCACTGGCT 0.567 APEX2 27301 broad.mit.edu 37 X 55032975 55032975 + Missense_Mutation SNP C T T TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chrX:55032975C>T uc004dtz.2 + 6 740 c.664C>T c.(664-666)CGC>TGC p.R222C APEX2_uc011mom.1_Missense_Mutation_p.R51C NM_014481 NP_055296 Q9UBZ4 APEX2_HUMAN apurinic/apyrimidinic endonuclease 2 222 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1) 1 GGACCCAGGGCGCAAGTGGAT 0.473 Other_BER_factors ACRC 93953 broad.mit.edu 37 X 70830605 70830605 + Missense_Mutation SNP G A A TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chrX:70830605G>A uc004eae.2 + 11 2187 c.1686G>A c.(1684-1686)ATG>ATA p.M562I BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 562 nucleus ovary(3) 3 Renal(35;0.156) CTGGTGAGATGTGGTACCCAA 0.502 HCFC1 3054 broad.mit.edu 37 X 153236126 153236126 + Missense_Mutation SNP C G G TCGA-76-4931-01A-01D-1486-08 TCGA-76-4931-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx d4a27742-ca69-4f54-9bce-ec33d8481fed e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c g.chrX:153236126C>G uc004fjp.2 - 1 694 c.166G>C c.(166-168)GTG>CTG p.V56L TMEM187_uc004fjq.2_5'Flank NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 56 Kelch 1. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTTCGTCCACTATTCCCTCG 0.532