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
SLC35F5	80255	broad.mit.edu	37	2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	uc002tku.1	-	12	1730	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_uc002tkt.3_Non-coding_Transcript|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	439					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308000													36	89					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	C	A	rs112098339		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000													5	37					0.000602214	0.000615306	1	1	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:195515449A>T	uc021xjp.1	-	1	3158	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													4	4					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	uc003svc.3	+	16	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1120	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353000									Kartagener syndrome				13	36					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	uc003zpu.3	-	4	801	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_uc003zps.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpt.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpv.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpw.3_Nonsense_Mutation_p.R176*	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	176	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R176*(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443000													10	127					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	rs149357946	by1000genomes	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	uc002red.3	-	19	3180	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGGTTGCGCTGACAGAA	0.453000													41	77					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050052	44050052	+	Silent	SNP	G	G	A	rs139361486		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	uc002rtn.3	-	9	1487	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	ABCG5_uc002rtm.3_Silent_p.S54S|ABCG5_uc002rto.3_Silent_p.S278S|ABCG5_uc002rtp.3_Silent_p.S54S	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	449	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCCTGGTCGCTGACAGCTC	0.567000													15	23					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	uc001hbr.3	+	22	3315	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607000													8	69					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	uc002zpf.1	-	13	1780	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_uc011agx.1_Missense_Mutation_p.E386D|HIRA_uc010grn.1_Missense_Mutation_p.E520D|HIRA_uc010gro.2_Missense_Mutation_p.E476D|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	520	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582000													82	154					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075050	9075050	+	Silent	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	uc002mkp.3	-	2	12600	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4134	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTTCTCTGAGTATGTAA	0.517000													10	111					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	uc001vde.1	-	4	682	c.421A>G	c.(421-423)Atg>Gtg	p.M141V		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	141					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413000													53	126					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	uc003tvw.4	+	6	1538	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_uc003tvx.4_Missense_Mutation_p.V268A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	268										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCGATTGTCCCCAAGATA	0.537000													18	282					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	uc001fvo.2	-	3	566	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_uc001fvn.2_Missense_Mutation_p.G85V|DCAF8_uc009wth.2_Missense_Mutation_p.G85V|DCAF8_uc010pjb.1_Missense_Mutation_p.G85V|DCAF8_uc010pjc.1_Missense_Mutation_p.G239V|DCAF8_uc001fvq.4_Missense_Mutation_p.G85V|DCAF8_uc001fvp.4_Missense_Mutation_p.G85V	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	85						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537000													8	21					0.000157383	0.000164378	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13602746	13602746	+	Silent	SNP	T	T	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:13602746T>G	uc003gmz.1	-	9	5895	c.5778A>C	c.(5776-5778)gcA>gcC	p.A1926A	BOD1L1_uc010idr.1_Silent_p.A1263A	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1926							DNA binding										TATTTTCATTTGCATTCATGA	0.458000													9	67					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	uc002vgz.2	+	3	904	c.694G>A	c.(694-696)Gga>Aga	p.G232R	CXCR2_uc002vha.2_Missense_Mutation_p.G232R|CXCR2_uc002vhb.2_Missense_Mutation_p.G232R|CXCR2_uc021vwp.1_Missense_Mutation_p.G232R	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	232					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567000													93	224					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	uc003phn.4	-	7	1128	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_uc010kax.3_5'UTR|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.P203S	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	334			P -> R (in ISSD).		anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353000													5	36					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								18	53					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	uc010yqa.2	+	7	1652	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_uc010ypz.2_Missense_Mutation_p.R159W|SLC1A4_uc002sdh.3_Missense_Mutation_p.R237W	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	457					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552000													38	101					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	uc001auo.3	-	2	864	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	264										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACAGGCAGAGGAATGGAGA	0.463000													68	112					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	uc003fry.2	+	7	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_uc003frx.2_Missense_Mutation_p.R343L|TP63_uc003frz.2_Missense_Mutation_p.R343L|TP63_uc010hzc.1_Missense_Mutation_p.R343L|TP63_uc003fsa.2_Missense_Mutation_p.R249L|TP63_uc003fsb.2_Missense_Mutation_p.R249L|TP63_uc003fsc.2_Missense_Mutation_p.R249L|TP63_uc003fsd.2_Missense_Mutation_p.R249L|TP63_uc021xir.1_Missense_Mutation_p.R249L|TP63_uc010hzd.1_Missense_Mutation_p.R164L|TP63_uc003fse.1_Missense_Mutation_p.R224L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	343			R -> Q (in EEC3).|R -> W (in EEC3).		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R343Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTGAGGCCCGGATCTGTGCT	0.488000										HNSCC(45;0.13)			7	72					0.0381472	0.0381472	1	1	0
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	uc002huw.3	-	2	1002	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	309					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567000													8	89					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227660233	227660233	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	uc021vxn.1	-	0	3222	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R	IRS1_uc002voh.4_Silent_p.R1074R	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1074					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGAGGTTCACCCGGGTGAAGG	0.647000													44	91					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	uc001mxi.3	+	23	3381	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V	TTC17_uc010rfj.2_Missense_Mutation_p.A1104V|TTC17_uc001mxl.3_Missense_Mutation_p.A160V	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1104							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGAAAAAGCACTGGTGTGG	0.463000													62	172					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	uc001ydp.3	+	2	864	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_uc001ydo.4_Missense_Mutation_p.K260N|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.K235N|SERPINA3_uc001yds.3_Missense_Mutation_p.K235N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	235					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507000													38	38					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30659555	30659555	+	Silent	SNP	C	C	T	rs112610391		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	uc002wxh.3	+	1	390	c.153C>T	c.(151-153)taC>taT	p.Y51Y	HCK_uc010gdy.3_Silent_p.Y31Y|HCK_uc021wbv.1_Silent_p.Y30Y|HCK_uc002wxi.3_Silent_p.Y30Y	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	51					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCCTGTGTACGTGCCGGATC	0.582000													9	74					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	uc001whm.1	-	6	735	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5_uc001whl.1_Missense_Mutation_p.N198S|PRMT5_uc010tnf.1_Missense_Mutation_p.N109S|PRMT5_uc010tnh.1_Missense_Mutation_p.N171S|PRMT5_uc010tng.1_Missense_Mutation_p.N154S|PRMT5_uc001whn.1_Intron	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	215					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473000													10	91					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	uc001pnv.3	+	10	986	c.881T>A	c.(880-882)tTt>tAt	p.F294Y	TTC12_uc001pnu.3_Missense_Mutation_p.F288Y|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.F138Y	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	288							binding	p.N294N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438000													7	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	uc002rhk.3	-	36	4706	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_uc010yla.2_Missense_Mutation_p.R257C|OTOF_uc002rhh.3_Missense_Mutation_p.R760C|OTOF_uc002rhi.3_Missense_Mutation_p.R837C|OTOF_uc002rhj.3_Missense_Mutation_p.R760C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1527	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587000													9	81					0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690343	38690343	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	uc003gth.4	+	2	527	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_uc003gtg.2_Silent_p.T65T	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	65	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567000													9	78					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884675	52884675	+	Silent	SNP	G	G	A	rs398542		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:52884675G>A	uc001sam.3	-	3	1088	c.879C>T	c.(877-879)gaC>gaT	p.D293D		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	293	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.D293D(8)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTTGATCTCGTCTGTGAGAG	0.498000													6	44					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000													4	26					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	uc003jhl.3	+	16	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_uc003jhm.3_Missense_Mutation_p.P876R|PDZD2_uc011cnx.1_Missense_Mutation_p.P702R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	876					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCTGGCCCCTTGTCAGAC	0.547000													12	125					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31663038	31663038	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	uc003akh.3	+	8	1255	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_uc003aki.3_Silent_p.Q124Q|LIMK2_uc003akj.3_Silent_p.Q349Q|LIMK2_uc003akk.3_Silent_p.Q349Q|LIMK2_uc011aln.2_Silent_p.Q287Q	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	370	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGACCCAGAAAACTTTTC	0.473000													3	12					0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066844	158066844	+	Silent	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	uc003qqt.3	+	5	1325	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_uc003qqs.3_Silent_p.I276I|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	276						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527000													6	24					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	uc001vxe.3	-	18	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_uc010ahk.3_Missense_Mutation_p.R292C|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R834C	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	942					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCCCCAGCGGAGGTCGATT	0.657000													7	43					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	uc003orx.3	+	4	1003	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.R120C	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582000													34	359					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140762775	140762775	+	Silent	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	uc003lka.2	+	0	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.L103L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	103	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483000													9	86					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	uc003fpn.3	+	3	523	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_uc011brv.2_Missense_Mutation_p.K108E|SENP2_uc011brw.2_Intron	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	118					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368000													14	35					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6635636	6635636	+	Silent	SNP	C	C	G			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	uc001qoo.2	+	20	2635	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_uc009zen.1_Silent_p.L735L|NCAPD2_uc010sfd.1_Silent_p.L818L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	863					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGACCCACTCTGGATCCCAT	0.552000													9	121					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	uc002hwp.1	-	2	672	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627000													29	128					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	uc003ygq.4	+	9	1300	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_uc003ygr.4_Missense_Mutation_p.A373T|ESRP1_uc003ygs.4_Missense_Mutation_p.A373T|ESRP1_uc003ygt.4_Missense_Mutation_p.A373T|ESRP1_uc003ygu.4_Missense_Mutation_p.A373T|ESRP1_uc003ygv.3_Missense_Mutation_p.A213T|ESRP1_uc003ygw.3_Missense_Mutation_p.A213T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	373	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483000													7	90					0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219500985	219500985	+	Silent	SNP	G	G	C			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	uc021vwx.1	+	14	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	684	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATACTGGGGGCAGACACTAT	0.418000													74	161					0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	uc001kto.3	-	2	752	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	136					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ATGAAATTAGCCTGGGATATG	0.458													10	80	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	uc021qss.1	+	18	5311_5312	c.4668_4669delCT	c.(4666-4671)cactctfs	p.H1556fs	WNK1_uc001qio.4_Frame_Shift_Del_p.H1296fs|WNK1_uc021qst.1_Frame_Shift_Del_p.H1548fs|WNK1_uc001qip.4_Frame_Shift_Del_p.H1049fs|WNK1_uc001qir.4_Frame_Shift_Del_p.H469fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1296					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTTGTCTCACTCTGCATCATC	0.431													11	151	---	---	---	---					
CDH13	1012	broad.mit.edu	37	16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	uc010vns.2	+	5	947_948	c.683_684delAT	c.(682-684)gatfs	p.D228fs	CDH13_uc002fgx.3_Frame_Shift_Del_p.D181fs|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Frame_Shift_Del_p.D142fs	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	181	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGGGAGTGGATCAAGAGCCTA	0.455													8	125	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	uc002gim.2	-	5	830	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F212fs*3(17)|p.T211T(9)|p.0?(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.T211N(4)|p.T211fs*4(3)|p.R213fs*35(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.T211fs*5(2)|p.F212S(2)|p.F212I(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.F80fs*3(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F212Y(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CACTATGTCGAAAAGTGTTTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	32	---	---	---	---					
