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 TAGLN2 8407 broad.mit.edu 37 1 159889625 159889625 + Splice_Site SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:159889625C>T ENST00000368097.4 - 3 491 c.181G>A c.(181-183)Gtg>Atg p.V61M TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M|TAGLN2_ENST00000368096.1_Splice_Site_p.V82M NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 61 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TCACATAGCACCTGGATGAGG 0.552 29 112 --- --- --- --- TMCC2 9911 broad.mit.edu 37 1 205240957 205240957 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr1:205240957G>T ENST00000358024.3 + 5 2224 c.1835G>T c.(1834-1836)tGc>tTc p.C612F TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 612 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) GTGGAGTCCTGCCTGACCCGG 0.657 3 69 --- --- --- --- DIRC1 116093 broad.mit.edu 37 2 189599335 189599335 + Nonstop_Mutation SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr2:189599335A>G ENST00000308100.4 - 2 583 c.313T>C c.(313-315)Taa>Caa p.*105Q AC079613.1_ENST00000431708.1_RNA NM_052952.2 NP_443184.1 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 0 large_intestine(1)|lung(6) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) CATTGTAATTAGGTAAGGCTT 0.373 4 118 --- --- --- --- GALNT15 117248 broad.mit.edu 37 3 16261011 16261011 + Silent SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr3:16261011A>G ENST00000339732.5 + 7 1997 c.1494A>G c.(1492-1494)ccA>ccG p.P498P GALNT15_ENST00000437509.1_Silent_p.P498P NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGCTGTACCCATCTGAACCCA 0.537 37 254 --- --- --- --- GABRB1 2560 broad.mit.edu 37 4 47408857 47408857 + Missense_Mutation SNP T T A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr4:47408857T>A ENST00000295454.3 + 8 1286 c.994T>A c.(994-996)Ttt>Att p.F332I GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 332 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTACATCTTCTTTGGGAAAGG 0.393 3 29 --- --- --- --- PRSS12 8492 broad.mit.edu 37 4 119216935 119216935 + Missense_Mutation SNP T T A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr4:119216935T>A ENST00000296498.3 - 10 2196 c.1914A>T c.(1912-1914)ttA>ttT p.L638F PRSS12_ENST00000510903.1_5'UTR NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 638 Peptidase S1. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 ACATTTACCTTAAAGAATTTT 0.363 5 82 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140203081 140203081 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr5:140203081G>T ENST00000529859.1 + 1 1721 c.1721G>T c.(1720-1722)gGc>gTc p.G574V PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCACCGGCGGCGCAGTGAGC 0.687 5 65 --- --- --- --- PCDHGA4 56111 broad.mit.edu 37 5 140735010 140735010 + Silent SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr5:140735010C>T ENST00000571252.1 + 1 243 c.243C>T c.(241-243)agC>agT p.S81S PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCCGCGCAGCGGCACCTTGG 0.612 3 63 --- --- --- --- FRS3 10817 broad.mit.edu 37 6 41738719 41738719 + Missense_Mutation SNP G G A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr6:41738719G>A ENST00000373018.3 - 7 1368 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S FRS3_ENST00000259748.2_Missense_Mutation_p.P373S NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 373 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGCTGGTGGGCTTCTGCAGT 0.662 5 107 --- --- --- --- ALKBH4 54784 broad.mit.edu 37 7 102098332 102098332 + Missense_Mutation SNP C C T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr7:102098332C>T ENST00000292566.3 - 3 457 c.418G>A c.(418-420)Ggc>Agc p.G140S NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) 140 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 GGGTAGAGGCCCATCCTCCGC 0.652 6 36 --- --- --- --- OR13D1 286365 broad.mit.edu 37 9 107456834 107456834 + Missense_Mutation SNP C C G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr9:107456834C>G ENST00000318763.5 + 1 175 c.132C>G c.(130-132)ttC>ttG p.F44L NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGACTGAATTCTTTCTGGTGG 0.443 10 39 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134026129 134026129 + Missense_Mutation SNP T T G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr9:134026129T>G ENST00000359428.5 + 16 2398 c.2254T>G c.(2254-2256)Ttg>Gtg p.L752V RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 752 11 X 5 AA approximate repeats.|Leucine-zipper 1. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TACCTTTCTTTTGGAGATTAA 0.403 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 149 --- --- --- --- LINC00202-1 387644 broad.mit.edu 37 10 27223418 27223418 + RNA SNP T T C TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:27223418T>C ENST00000431296.1 - 0 3186 NR_026795.1 CATCTGTCCATTGGGCTTGGT 0.438 3 73 --- --- --- --- OR52E2 119678 broad.mit.edu 37 11 5080421 5080421 + Missense_Mutation SNP A A T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr11:5080421A>T ENST00000321522.2 - 1 436 c.437T>A c.(436-438)aTt>aAt p.I146N NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) ACCAAGACCAATCACAGAAAC 0.463 4 25 --- --- --- --- CD163L1 283316 broad.mit.edu 37 12 7531609 7531609 + Missense_Mutation SNP C C A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr12:7531609C>A ENST00000313599.3 - 9 2393 c.2336G>T c.(2335-2337)tGt>tTt p.C779F CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR Q9NR16 C163B_HUMAN CD163 molecule-like 1 779 SRCR 7. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ATTTAAATGACACGCAGTCTG 0.368 3 72 --- --- --- --- EEA1 8411 broad.mit.edu 37 12 93247720 93247720 + Missense_Mutation SNP G G T TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr12:93247720G>T ENST00000322349.8 - 6 641 c.377C>A c.(376-378)cCt>cAt p.P126H NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 126 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CAACCCATCAGGTTTGGCCTC 0.294 3 29 --- --- --- --- FAM181A 90050 broad.mit.edu 37 14 94395229 94395229 + Missense_Mutation SNP C C G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr14:94395229C>G ENST00000267594.5 + 3 1091 c.784C>G c.(784-786)Cct>Gct p.P262A FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 262 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCTCAAGATGCCTGGGGTCTC 0.617 2 13 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86284686 86284686 + Missense_Mutation SNP A A G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr15:86284686A>G ENST00000394518.2 + 35 8113 c.8018A>G c.(8017-8019)gAg>gGg p.E2673G AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G|AKAP13_ENST00000560579.1_3'UTR NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2673 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CGGGAGGCAGAGCGGCTCAGC 0.572 5 34 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27475706 27475706 + Missense_Mutation SNP C C A TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr16:27475706C>A ENST00000356183.4 - 34 5822 c.5807G>T c.(5806-5808)aGt>aTt p.S1936I GTF3C1_ENST00000561623.1_Intron NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1936 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GCCTGGGGAACTGAACTCACC 0.667 15 89 --- --- --- --- ZNF599 148103 broad.mit.edu 37 19 35251088 35251088 + Missense_Mutation SNP T T G TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr19:35251088T>G ENST00000329285.8 - 4 991 c.618A>C c.(616-618)aaA>aaC p.K206N NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TGCTAAACCCTTTCCCACATT 0.493 6 146 --- --- --- --- EPC1 80314 broad.mit.edu 37 10 32576086 32576086 + Frame_Shift_Del DEL G G - TCGA-HC-7737-01A-11D-2114-08 TCGA-HC-7737-11A-02D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcf98acc-736b-4af6-bdca-a320a413165a 4adefa84-9ffb-4efe-9a7f-bf1e307f6932 g.chr10:32576086delG ENST00000319778.6 - 7 1394 c.1092delC c.(1090-1092)ttcfs p.F364fs EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs|EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 364 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) CTTTAGCATTGAAGACTGGCA 0.463 11 128 --- --- --- ---