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 ZFHX3 463 broad.mit.edu 37 16 72845826 72845826 + Missense_Mutation SNP G G C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr16:72845826G>C uc002fck.3 - 5 4314 c.3641C>G c.(3640-3642)gCt>gGt p.A1214G ZFHX3_uc002fcl.3_Missense_Mutation_p.A300G NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1214 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GATCTCCTCAGCTGTTTTTGG 0.542000 123 227 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38251638 38251638 + Silent SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr22:38251638A>G uc003auf.3 + 3 438 c.360A>G c.(358-360)ccA>ccG p.P120P EIF3L_uc011ann.2_Silent_p.P120P|EIF3L_uc003aug.3_Intron NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 120 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCATTGCTCCACAGGTTGGCA 0.448000 10 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 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 29 63 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr4:146059006G>A uc003ika.4 - 20 2864 c.2726C>T c.(2725-2727)aCt>aTt p.T909I NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 4 160 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017837 87017837 + Silent SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:87017837T>C uc003dqn.3 - 2 1204 c.840A>G c.(838-840)acA>acG p.T280T NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GTTCTGTCTTTGTGATGTCAC 0.557000 9 29 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50812344 50812344 + Missense_Mutation SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:50812344G>A uc010enu.1 + 41 5917 c.5870G>A c.(5869-5871)gGc>gAc p.G1957D MYH14_uc002prq.1_Missense_Mutation_p.G1924D|MYH14_uc002prr.1_Missense_Mutation_p.G1916D|MYH14_uc010ycb.2_Missense_Mutation_p.G267D|MYH14_uc002prs.1_Missense_Mutation_p.G267D NM_001145809 NP_001139281 Q7Z406 MYH14_HUMAN Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA. 1916 axon guidance|regulation of cell shape myosin complex ATP binding|actin binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCTCAGGCCGGCCGCCGGAGG 0.627000 3 100 0 0 1 0 0 GGT8P 645367 broad.mit.edu 37 2 91968570 91968570 + RNA SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr2:91968570G>A uc010fho.1 + 1 c.901G>A Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA. CGTGGGCAAGGGCTTGGCAGC 0.667000 10 62 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19750895 19750895 + Splice_Site SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:19750895T>C uc002nnd.3 - 7 654 c.537_splice c.e7+1 p.Q179_splice GMIP_uc010xrb.2_Splice_Site_p.Q179_splice|GMIP_uc010xrc.2_Splice_Site_p.Q179_splice NM_016573 NP_057657 Q9P107 GMIP_HUMAN Homo sapiens GEM interacting protein (GMIP), mRNA. 179 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity|metal ion binding|protein binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CCCCCTCACCTGGTAGTAGTC 0.577000 11 32 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8397110 8397110 + Missense_Mutation SNP C C G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr17:8397110C>G uc002glm.3 - 31 4246 c.4150G>C c.(4150-4152)Gag>Cag p.E1384Q MYH10_uc002gll.3_Missense_Mutation_p.E1353Q|MYH10_uc010cnx.3_Missense_Mutation_p.E1362Q NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1353 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCTCCTCCTCCTGCTGCTCC 0.587000 3 52 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6511719 6511719 + Missense_Mutation SNP G G C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr1:6511719G>C uc001amy.3 + 8 2140 c.1972G>C c.(1972-1974)Gag>Cag p.E658Q ESPN_uc001amz.3_Missense_Mutation_p.E92Q NM_031475 NP_113663 B1AK53 ESPN_HUMAN Homo sapiens espin (ESPN), mRNA. 658 Pro-rich.|WH2. sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium SH3 domain binding|actin filament binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCTACTGGCTGAGATTAAGGC 0.637000 5 22 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151171242 151171242 + Silent SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr3:151171242G>A uc011bod.2 - 2 645 c.645C>T c.(643-645)taC>taT p.Y215Y NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 215 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCCATGCAGGTAAAGGCTGT 0.413000 3 107 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189578 47189578 + Missense_Mutation SNP A A G TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr11:47189578A>G uc001ndt.3 - 11 1359 c.1087T>C c.(1087-1089)Ttt>Ctt p.F363L ARFGAP2_uc010rha.2_Missense_Mutation_p.F94L|ARFGAP2_uc010rhb.2_Missense_Mutation_p.F335L|ARFGAP2_uc001ndu.3_Missense_Mutation_p.F227L|ARFGAP2_uc010rhc.2_Missense_Mutation_p.F94L NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN Homo sapiens ADP-ribosylation factor GTPase activating protein 2 (ARFGAP2), transcript variant 1, mRNA. 363 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CCTAAGGAAAAGGGATTGTCC 0.512000 3 61 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54416099 54416099 + Missense_Mutation SNP G G T TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr19:54416099G>T uc002qcr.2 + 0 109 c.14G>T c.(13-15)aGc>aTc p.S5I CACNG7_uc010era.2_Missense_Mutation_p.S5I NM_031896 NP_114102 P62955 CCG7_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA. 5 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity p.C4S(1) NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) AGTCACTGCAGCAGCCGCGCC 0.637000 OREG0003671 type=REGULATORY REGION|Gene=CACNG7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 72 0 0 1 0 0 TRIM8 81603 broad.mit.edu 37 10 104416787 104416787 + Silent SNP G G A TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr10:104416787G>A uc001kvz.2 + 5 1455 c.1332G>A c.(1330-1332)tcG>tcA p.S444S NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN Homo sapiens tripartite motif containing 8 (TRIM8), mRNA. 444 PML body|cytoplasm ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCCCCCCATCGCAGTATCCCA 0.657000 3 70 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67203680 67203680 + Missense_Mutation SNP T T C TCGA-FK-A3SB-01A-11D-A22D-08 TCGA-FK-A3SB-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5c194a9-c0e9-4c8a-8d3c-01edd70bdbd7 c7f4c035-cf6d-455d-9f91-540c961ceb34 g.chr16:67203680T>C uc002erl.2 + 14 2436 c.1471T>C c.(1471-1473)Tcc>Ccc p.S491P HSF4_uc002erm.2_Missense_Mutation_p.S461P|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript|NOL3_uc010vjc.2_5'Flank NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA. 491 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) AGCCAGTCCCTCCCCCTAAGA 0.662000 OREG0023873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 109 0 0 1 0 0