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 SEMA7A 8482 broad.mit.edu 37 15 74710610 74710610 + Splice_Site SNP C C A TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr15:74710610C>A uc002axv.3 - 3 412 c.372_splice c.e3+1 p.R124_splice SEMA7A_uc010ulk.2_Splice_Site|SEMA7A_uc010ull.2_Intron NM_003612 NP_001139502 O75326 SEM7A_HUMAN Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA. 124 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CCCACTCACCCGCTTATCCAG 0.582000 3 46 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134455701 134455701 + Missense_Mutation SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr9:134455701T>C uc022bos.1 - 22 3245 c.3086A>G c.(3085-3087)aAg>aGg p.K1029R RAPGEF1_uc022bot.1_Missense_Mutation_p.K1011R NM_198679 NP_941372 Q13905 RPGF1_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. 1011 Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CTGCCACCGCTTGGAGAAGTT 0.637000 7 25 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954379 30954379 + Missense_Mutation SNP A A T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr6:30954379A>T uc003nsh.2 + 1 678 c.427A>T c.(427-429)Acc>Tcc p.T143S MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T127S NM_001010909 NP_001010909 Q5SSG8 MUC21_HUMAN Homo sapiens mucin 21, cell surface associated (MUC21), mRNA. 143 28 X 15 AA approximate tandem repeats.|Ser-rich. T -> L (in Ref. 3; AAQ88781 and 4; CAQ08321). integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 CTCCAGCACAACCTCCAGTGG 0.617000 11 251 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877399 39877399 + Missense_Mutation SNP A A T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr1:39877399A>T uc009vvt.1 + 0 2224 c.1462A>T c.(1462-1464)Aat>Tat p.N488Y MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 352 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGAGCTACAGAATCAAATCTC 0.423000 23 69 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100486665 100486665 + Missense_Mutation SNP C C A TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chrX:100486665C>A uc004egz.2 + 2 398 c.29C>A c.(28-30)cCt>cAt p.P10H DRP2_uc011mrh.1_Intron NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 10 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CAGGGATGCCCTTACACCCTC 0.537000 4 181 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377662 49377662 + Missense_Mutation SNP A A G rs142855954 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:49377662A>G uc002pky.4 + 1 1441 c.1172A>G c.(1171-1173)tAt>tGt p.Y391C NM_014330 NP_055145 O75807 PR15A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA. 391 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCCTGGGTCTATCAGCCAGGA 0.527000 4 159 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 13 14 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84089661 84089661 + Missense_Mutation SNP G G T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr16:84089661G>T uc002fhi.3 - 21 3413 c.2911C>A c.(2911-2913)Caa>Aaa p.Q971K MBTPS1_uc002fhh.3_Missense_Mutation_p.Q475K NM_003791 NP_003782 Q14703 MBTP1_HUMAN Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA. 971 cholesterol metabolic process|proteolysis Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane serine-type endopeptidase activity p.Q971H(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGCCTCACTTGAGGGCGATTC 0.493000 25 67 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237294 56237294 + Missense_Mutation SNP C C T rs144814707 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr11:56237294C>T uc010rjk.2 - 0 721 c.680G>A c.(679-681)cGc>cAc p.R227H OR8U8_uc001nit.2_Intron NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TTCTGCTGAGCGCATTCGCAG 0.418000 11 13 0 0 1 0 0 DTNBP1 84062 broad.mit.edu 37 6 15615571 15615571 + Missense_Mutation SNP A A G rs149346386 TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr6:15615571A>G uc003nbm.3 - 5 604 c.415T>C c.(415-417)Tgt>Cgt p.C139R DTNBP1_uc003nbl.3_Missense_Mutation_p.C58R|DTNBP1_uc010jph.3_Missense_Mutation_p.C126R|DTNBP1_uc003nbp.3_Missense_Mutation_p.C139R NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 139 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) CACTGCCCACATAAGTCTTCC 0.383000 Hermansky-Pudlak syndrome 4 91 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38934209 38934209 + Silent SNP C C T rs139629035 byFrequency TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:38934209C>T uc002oit.3 + 3 412 c.282C>T c.(280-282)ggC>ggT p.G94G RYR1_uc002oiu.3_Silent_p.G94G NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 94 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|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 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) CATCCCAGGGCGGGGGACACA 0.632000 16 27 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98501102 98501102 + Missense_Mutation SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr7:98501102T>C uc003upp.3 + 11 1207 c.998T>C c.(997-999)aTt>aCt p.I333T TRRAP_uc011kis.2_Missense_Mutation_p.I333T|TRRAP_uc003upr.3_Missense_Mutation_p.I25T NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 333 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGCTTCTGATTGCTGCCAAA 0.488000 3 111 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33137489 33137489 + Silent SNP T T C TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:33137489T>C uc002ntn.1 - 3 402 c.246A>G c.(244-246)ttA>ttG p.L82L ANKRD27_uc002nto.1_Silent_p.L82L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA. 82 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) AACCAGCTCCTAATTTAATCC 0.473000 3 53 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42754077 42754077 + Missense_Mutation SNP C C T TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:42754077C>T uc002ote.4 - 2 433 c.275G>A c.(274-276)cGc>cAc p.R92H ERF_uc002otd.4_5'UTR NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 92 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GTGCAGAATGCGCTTGTTATA 0.478000 4 162 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369469 56369469 + Missense_Mutation SNP A A G TCGA-FE-A234-01A-11D-A14W-08 TCGA-FE-A234-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx efc43590-024c-4922-a515-5df321643d4f b583c23a-b4cb-4c53-8216-07b7f1e52f6d g.chr19:56369469A>G uc002qmd.4 + 2 1132 c.710A>G c.(709-711)cAg>cGg p.Q237R NLRP4_uc002qmf.3_Missense_Mutation_p.Q162R|NLRP4_uc010etf.3_Missense_Mutation_p.Q68R NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 237 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAGAGCTGCAGGGCGGCTTG 0.542000 4 101 0 0 1 0 0