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 CHD9 80205 broad.mit.edu 37 16 53243396 53243396 + Silent SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr16:53243396T>C uc002ehb.3 + 1 1619 c.1455T>C c.(1453-1455)ccT>ccC p.P485P CHD9_uc002egy.3_Silent_p.P485P|CHD9_uc002egz.1_Silent_p.P485P|CHD9_uc002ehc.3_Silent_p.P485P|CHD9_uc002ehd.2_Silent_p.P11P NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 485 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTCTGTAGCCTCCATCTTCCA 0.343000 3 33 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166403472 166403472 + Missense_Mutation SNP G G A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr4:166403472G>A uc003irg.4 + 3 1028 c.751G>A c.(751-753)Gac>Aac p.D251N NM_001873 NP_001864 P16870 CBPE_HUMAN Homo sapiens carboxypeptidase E (CPE), mRNA. 251 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCATGGAGGAGACCTTGTGGC 0.403000 4 151 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156731 20156731 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chrX:20156731C>T uc004czt.3 - 1 234 c.26G>A c.(25-27)gGt>gAt p.G9D SCARNA9L_uc010nfp.3_5'Flank NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 9 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TCTGTTTTTACCTCCTTTACC 0.313000 63 38 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442344 61442344 + Silent SNP A A C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr14:61442344A>C uc001xff.4 - 3 1384 c.1293T>G c.(1291-1293)gtT>gtG p.V431V NM_020810 NP_065861 Q32P41 TRMT5_HUMAN Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA. 431 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CCCTTTGCCGAACATCCTCAG 0.483000 8 148 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 152991197 152991197 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chrX:152991197C>T uc004fif.2 + 0 875 c.476C>T c.(475-477)gCc>gTc p.A159V BCAP31_uc004fid.2_5'Flank|BCAP31_uc011myz.1_5'Flank|BCAP31_uc011mza.1_5'Flank|BCAP31_uc004fie.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA. 159 ABC transmembrane type-1.|Interaction with PEX19. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCAACTGGCCCTGTCGTTC 0.647000 3 39 0 0 1 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998408 8998408 + Missense_Mutation SNP A A T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr8:8998408A>T uc003wsn.4 - 1 919 c.754T>A c.(754-756)Ttg>Atg p.L252M PPP1R3B_uc003wso.4_Missense_Mutation_p.L252M|PPP1R3B_uc022arp.1_Missense_Mutation_p.L252M NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA. 252 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GATATTCCCAAATCCGGTCCA 0.498000 14 90 0 0 1 0 0 GNGT1 2792 broad.mit.edu 37 7 93540201 93540201 + Missense_Mutation SNP G G C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr7:93540201G>C uc003unc.1 + 2 344 c.196G>C c.(196-198)Gag>Cag p.E66Q GNGT1_uc003umx.1_Non-coding_Transcript NM_021955 NP_068774 P63211 GBG1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA. 66 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity p.K65K(1)|p.E66D(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TCCCTTCAAGGAGCTCAAAGG 0.348000 5 84 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101520843 101520843 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr12:101520843C>T uc010svm.1 + 26 3435 c.2863C>T c.(2863-2865)Ccg>Tcg p.P955S ANO4_uc001thw.2_Missense_Mutation_p.P920S|ANO4_uc001thx.2_Missense_Mutation_p.P955S|ANO4_uc001thy.2_Missense_Mutation_p.P475S NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 955 chloride channel complex chloride channel activity p.P920S(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CAACGAGTGGCCGTGACCATG 0.488000 HNSCC(74;0.22) 3 46 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60910087 60910087 + Missense_Mutation SNP A A C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr20:60910087A>C uc002ycq.3 - 19 2539 c.2472T>G c.(2470-2472)ttT>ttG p.F824L LAMA5_uc021wfw.1_Missense_Mutation_p.F824L|MIR4758_uc021wfx.1_5'Flank NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 824 Laminin EGF-like 10. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCGGCAGCCAAAATAGTCAG 0.652000 3 55 0 0 1 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802980 31802980 + Silent SNP C C A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr21:31802980C>A uc011acw.2 + 0 387 c.387C>A c.(385-387)tcC>tcA p.S129S NM_181600 NP_853631 Q3LI77 KR134_HUMAN Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA. 129 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 GTTACGGATCCAGATTCTGCT 0.473000 8 105 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368937 37368937 + Missense_Mutation SNP C C A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr3:37368937C>A uc003cgw.3 + 14 5986 c.5626C>A c.(5626-5628)Caa>Aaa p.Q1876K GOLGA4_uc010hgr.2_Missense_Mutation_p.Q1415K|GOLGA4_uc003cgv.3_Missense_Mutation_p.Q1854K|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.Q1735K NM_001172713 NP_001166184 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 1, mRNA. 1854 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GATTTTGGAGCAAAAGATAAA 0.373000 4 98 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52486124 52486124 + Missense_Mutation SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr15:52486124T>C uc010bff.3 - 40 5366 c.5204A>G c.(5203-5205)aAg>aGg p.K1735R GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 1735 myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AAAGCCTAGCTTGAAACTGCT 0.383000 21 221 0 0 1 0 0 SMUG1 23583 broad.mit.edu 37 12 54576295 54576295 + Missense_Mutation SNP T T A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr12:54576295T>A uc001sfg.2 - 3 545 c.398A>T c.(397-399)cAg>cTg p.Q133L SMUG1_uc001sfa.1_5'Flank|SMUG1_uc009znf.2_Missense_Mutation_p.Q133L|SMUG1_uc001sff.2_Missense_Mutation_p.Q133L|SMUG1_uc001sfc.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfb.4_Missense_Mutation_p.Q133L|SMUG1_uc001sfd.4_Missense_Mutation_p.Q133L|SMUG1_uc021qyn.1_Missense_Mutation_p.Q133L|SMUG1_uc001sfe.2_3'UTR NM_001243787 NP_001230716 Q53HV7 SMUG1_HUMAN Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA. 133 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 CACTTCTGACTGTGGGCACTC 0.562000 Base excision repair (BER), DNA glycosylases 20 313 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36509847 36509847 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr19:36509847C>T uc010eeq.2 - 7 1450 c.1136G>A c.(1135-1137)cGg>cAg p.R379Q BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.R379Q NM_001199570 NP_001186499 Q96DZ5 CLIP3_HUMAN Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA. 379 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAAGTCCATCCGGGGGGTCCG 0.612000 19 135 0 0 1 0 0 DQ595494 0 broad.mit.edu 37 15 100340147 100340147 + Splice_Site SNP T T G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr15:100340147T>G uc021sxo.1 + 1 c.54_splice c.e1+1 DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript|DQ571121_uc021sxm.1_5'Flank|DQ590616_uc002bvp.3_5'Flank|DNM1P46_uc021sxn.1_Non-coding_Transcript|DNM1P46_uc010urz.1_Non-coding_Transcript|DNM1P46_uc010bow.2_Intron|DQ575741_uc002bvt.1_5'Flank Homo sapiens piRNA piR-43213, complete sequence. TTGGTCTGCCTGCTCTGCCGA 0.607000 3 36 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180324339 180324339 + Missense_Mutation SNP C C G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr3:180324339C>G uc003fkk.3 + 8 1252 c.1120C>G c.(1120-1122)Cac>Gac p.H374D TTC14_uc003fkl.3_Missense_Mutation_p.H374D|TTC14_uc003fkm.2_Missense_Mutation_p.H374D NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 374 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTGTCCAACTCACAGAAATGC 0.383000 4 196 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109769507 109769507 + Missense_Mutation SNP A A G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr6:109769507A>G uc011eaq.2 - 12 2102 c.1811T>C c.(1810-1812)gTg>gCg p.V604A MICAL1_uc003ptj.3_Missense_Mutation_p.V585A|MICAL1_uc003ptk.3_Missense_Mutation_p.V585A|MICAL1_uc010kdr.3_Missense_Mutation_p.V499A NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 585 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TGCAGACACCACCGGTGTGAT 0.607000 7 392 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37309574 37309574 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr19:37309574C>T uc021utk.1 - 4 2101 c.1672G>A c.(1672-1674)Gat>Aat p.D558N LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.D558N|ZNF790_uc021utl.1_Missense_Mutation_p.D558N|ZNF790_uc021utm.1_Missense_Mutation_p.D558N NM_001242802 NP_001229731 Q6PG37 ZN790_HUMAN Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA. 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGTTCTGCATCAGTATGAATT 0.358000 8 239 0 0 1 0 0