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 pox qox pox_cutoff isArtifactMode oxoGCut ASTN2 23245 broad.mit.edu 37 9 119770423 119770423 + Silent SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr9:119770423G>A uc004bjt.2 - 5 1487 c.1386C>T c.(1384-1386)ctC>ctT p.L462L ASTN2_uc022bml.1_Silent_p.L162L|ASTN2_uc022bmm.1_Silent_p.L162L NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 513 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TTTGTCCACAGAGGTCCCTCA 0.582000 10 77 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966431 41966431 + Missense_Mutation SNP T T C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr12:41966431T>C uc010skn.2 + 9 1858 c.1850T>C c.(1849-1851)aTt>aCt p.I617T PDZRN4_uc001rmq.4_Missense_Mutation_p.I359T|PDZRN4_uc009zjz.3_Missense_Mutation_p.I357T|PDZRN4_uc001rmr.3_Missense_Mutation_p.I244T NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 617 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TCAGACTGCATTGGCAACCCA 0.473000 20 60 0 0 1 0 0 CXXC4 80319 broad.mit.edu 37 4 105412390 105412390 + Silent SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr4:105412390C>T uc003hxg.3 - 0 78 c.63G>A c.(61-63)ttG>ttA p.L21L AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN Homo sapiens CXXC finger protein 4 (CXXC4), mRNA. 21 Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TTGCCATTTGCAACGACGGCT 0.617000 16 306 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12948874 12948874 + Missense_Mutation SNP T T A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr8:12948874T>A uc003wwm.2 - 13 4252 c.3808A>T c.(3808-3810)Act>Tct p.T1270S DLC1_uc003wwk.1_Missense_Mutation_p.T833S|DLC1_uc003wwl.1_Missense_Mutation_p.T867S|DLC1_uc011kxx.1_Missense_Mutation_p.T759S NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 1270 Rho-GAP. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGCCCTTGAGTGGCAGCTAGG 0.423000 30 81 0 0 1 0 0 TOMM40 10452 broad.mit.edu 37 19 45397111 45397111 + Silent SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr19:45397111C>T uc002paa.4 + 3 706 c.510C>T c.(508-510)ccC>ccT p.P170P TOMM40_uc002ozz.3_Silent_p.P170P|TOMM40_uc002ozx.4_Silent_p.P170P|TOMM40_uc002ozy.4_Silent_p.P170P NM_001128917 NP_006105 O96008 TOM40_HUMAN Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 170 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) AGCTGGGCCCCGGTCTCAGGT 0.647000 20 42 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401462 77401462 + Silent SNP G G A rs113746494 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr16:77401462G>A uc002ffc.4 - 3 1073 c.654C>T c.(652-654)ccC>ccT p.P218P ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 218 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G216_G219del(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGCCAGAGCCGGGGTAGCCAC 0.552000 5 107 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310503 24310503 + Missense_Mutation SNP T T G TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr19:24310503T>G uc002nru.3 + 3 1835 c.1701T>G c.(1699-1701)atT>atG p.I567M ZNF254_uc010xrk.2_Missense_Mutation_p.I482M NM_203282 NP_975011 O75437 ZN254_HUMAN Homo sapiens zinc finger protein 254 (ZNF254), mRNA. 567 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATAAGAGAATTCATACTGGAG 0.333000 13 33 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518546 108518546 + Silent SNP G G C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr13:108518546G>C uc001vql.3 - 0 915 c.399C>G c.(397-399)ccC>ccG p.P133P NM_001080396 NP_001073865 B1AL88 F155A_HUMAN Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA. 133 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCCGGGGAGGGGGGCAGGG 0.721000 8 20 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77637504 77637504 + Silent SNP T T C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr4:77637504T>C uc003hkf.1 + 0 351 c.21T>C c.(19-21)acT>acC p.T7T SHROOM3_uc011cbx.2_Intron|SHROOM3_uc011cbz.1_Intron NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 0 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ATTCCACGACTGAATATGACA 0.453000 4 314 0 0 1 0 0 GGA2 23062 broad.mit.edu 37 16 23498084 23498084 + Missense_Mutation SNP G G T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr16:23498084G>T uc002dlq.3 - 6 690 c.607C>A c.(607-609)Cac>Aac p.H203N GGA2_uc010bxo.2_Non-coding_Transcript NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA. 203 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) TCCTCGGGGTGGTTGCTCTTT 0.507000 68 214 0 0 1 0 0 FAM207A 85395 broad.mit.edu 37 21 46363721 46363721 + Silent SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr21:46363721G>A uc002zgl.3 + 1 270 c.252G>A c.(250-252)tcG>tcA p.S84S FAM207A_uc002zgm.3_Intron NM_058190 NP_478070 Q9NSI2 CU070_HUMAN Homo sapiens family with sequence similarity 207, member A (FAM207A), mRNA. 84 AGGCAGGCTCGAGTGCACGGA 0.602000 18 53 0 0 1 0 0 IL23R 149233 broad.mit.edu 37 1 67705965 67705965 + Splice_Site SNP G G A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr1:67705965G>A uc001ddo.3 + 9 1233 c.1148_splice c.e9+1 p.G383_splice IL23R_uc009waz.3_Splice_Site_p.G180_splice|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.2_Intron|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Splice_Site|IL23R_uc001ddq.3_Splice_Site_p.G129_splice|IL23R_uc010opn.2_Splice_Site_p.G228_splice|IL23R_uc001ddr.3_Intron|IL23R_uc010opo.1_Splice_Site_p.G242_splice|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Splice_Site_p.G212_splice|IL23R_uc010opr.1_Splice_Site|IL23R_uc010oqh.2_Splice_Site_p.G24_splice|IL23R_uc010oqf.2_Splice_Site|IL23R_uc010ops.2_Splice_Site_p.G180_splice|IL23R_uc010opt.2_Splice_Site_p.G24_splice|IL23R_uc010opu.2_Splice_Site_p.G79_splice|IL23R_uc010opv.2_Splice_Site_p.G141_splice|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Splice_Site_p.G24_splice|IL23R_uc010opy.2_Splice_Site_p.G150_splice|IL23R_uc010opz.2_Splice_Site_p.G24_splice|IL23R_uc010oqa.2_Splice_Site_p.G24_splice|IL23R_uc010oqb.2_Splice_Site_p.G212_splice|IL23R_uc010oqc.2_Splice_Site_p.G99_splice|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_Intron|IL23R_uc010oqg.2_Intron|IL23R_uc001dds.3_Splice_Site_p.G128_splice|IL23R_uc001ddt.3_Intron NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN Homo sapiens interleukin 23 receptor (IL23R), mRNA. 383 inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TCCGAACTGGGTAGGTTTTTG 0.323000 4 38 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9355129 9355129 + Missense_Mutation SNP C C T TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr12:9355129C>T uc001qvl.3 - 2 448 c.419G>A c.(418-420)gGa>gAa p.G140E PZP_uc009zgl.3_5'UTR NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ACCTGTCTGTCCTGGTTTATA 0.498000 7 163 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68608012 68608012 + Missense_Mutation SNP G G A rs144599110 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr2:68608012G>A uc002sen.4 + 2 518 c.356G>A c.(355-357)cGa>cAa p.R119Q PLEK_uc010fde.3_Missense_Mutation_p.R119Q NM_002664 NP_002655 P08567 PLEK_HUMAN Homo sapiens pleckstrin (PLEK), mRNA. 119 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGGTCCATTCGACTGCCAGAA 0.458000 6 237 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81609760 81609760 + Missense_Mutation SNP T T C rs121908864 TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr14:81609760T>C uc001xvd.1 + 9 1514 c.1358T>C c.(1357-1359)aTg>aCg p.M453T NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 453 M -> T (in HTNA; sporadic; found in toxic thyroid nodules and hyperfunctioning thyroid adenomas). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.M453T(62) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CGCTTTCTCATGTGCAACCTG 0.527000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 52 105 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411859 130411859 + Missense_Mutation SNP G G C TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chrX:130411859G>C uc004ewe.4 - 12 2589 c.2306C>G c.(2305-2307)cCc>cGc p.P769R IGSF1_uc004ewd.3_Missense_Mutation_p.P764R|IGSF1_uc022cdv.1_Missense_Mutation_p.P755R|IGSF1_uc004ewf.2_Missense_Mutation_p.P744R NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 764 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CGGCTCACTGGGCTCAGACCA 0.527000 7 112 0 0 1 0 0 PEX1 5189 broad.mit.edu 37 7 92120650 92120650 + Missense_Mutation SNP A A G TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr7:92120650A>G uc003uly.3 - 20 3470 c.3374T>C c.(3373-3375)aTg>aCg p.M1125T PEX1_uc011khr.2_Missense_Mutation_p.M917T|PEX1_uc010ley.3_Missense_Mutation_p.M1068T|PEX1_uc011khs.2_Missense_Mutation_p.M803T NM_000466 NP_000457 O43933 PEX1_HUMAN Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA. 1125 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGCCGGTACATATTGAATTT 0.408000 3 116 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191900911 191900911 + Missense_Mutation SNP T T A TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr2:191900911T>A uc002usm.2 - 16 1864 c.1549A>T c.(1549-1551)Atg>Ttg p.M517L STAT4_uc002usn.2_Missense_Mutation_p.M517L|STAT4_uc010zgk.1_Missense_Mutation_p.M362L|STAT4_uc002uso.2_Missense_Mutation_p.M517L NM_003151 NP_003142 Q14765 STAT4_HUMAN Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA. 517 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TCTGCCAGCATATGGAGTTGA 0.458000 6 81 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371142 55371142 + Silent SNP G G A rs146621611 byFrequency TCGA-EM-A2OW-01A-11D-A202-08 TCGA-EM-A2OW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17a66d24-de77-4f2a-a8ad-d2c6a69e7671 a4765371-2387-4002-9887-2615e5136f7b g.chr11:55371142G>A uc010rii.2 - 0 733 c.708C>T c.(706-708)tcC>tcT p.S236S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 ACGTGCAAGCGGAGAGAGCCT 0.413000 4 113 0 0 1 0 0