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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HEATR8	374977	broad.mit.edu	37	1	55144970	55144970	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:55144970A>G	uc010ooe.1	+	11	2408	c.2084A>G	c.(2083-2085)aAg>aGg	p.K695R	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.K263R|HEATR8_uc010ood.1_Missense_Mutation_p.K213R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.K695R|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	695						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGCAGATAAAGGACCTGCTG	0.577000														138			4		0	0	0.009096	0	0
PTBP2	58155	broad.mit.edu	37	1	97278639	97278639	+	Silent	SNP	T	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:97278639T>A	uc001drq.3	+	12	1689	c.1443T>A	c.(1441-1443)acT>acA	p.T481T	PTBP2_uc001drn.2_Silent_p.T486T|PTBP2_uc001dro.2_Silent_p.T481T|PTBP2_uc010otz.1_Silent_p.T497T|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.T429T|PTBP2_uc001drr.3_Silent_p.T486T|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drs.1_Silent_p.T100T|PTBP2_uc001drt.3_Silent_p.T100T|PTBP2_uc021oqi.1_5'Flank	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTGGGGGCACTGTGAAAGCAT	0.328000														101			3		0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7578502A>C	uc002gim.2	-	4	622	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_uc002gig.1_Missense_Mutation_p.V143G|TP53_uc002gih.3_Missense_Mutation_p.V143G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V11G|TP53_uc010cnf.1_Missense_Mutation_p.V11G|TP53_uc002gii.1_Missense_Mutation_p.V11G|TP53_uc010cni.1_Missense_Mutation_p.V143G|TP53_uc010cnh.1_Missense_Mutation_p.V143G|TP53_uc002gij.2_Missense_Mutation_p.V143G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V50G|TP53_uc002gio.2_Missense_Mutation_p.V11G|TP53_uc010vug.2_Missense_Mutation_p.V104G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(33)|p.V143M(17)|p.V143E(10)|p.P142L(8)|p.0?(8)|p.V143L(4)|p.P142H(3)|p.P142P(3)|p.L137_W146del10(2)|p.P142_Q144delPVQ(2)|p.V11A(2)|p.P142F(2)|p.P142A(2)|p.V50A(2)|p.A138_V143delAKTCPV(2)|p.P142T(2)|p.P142S(2)|p.V143V(2)|p.V143fs*27(2)|p.A138_P142delAKTCP(2)|p.V143G(2)|p.P142fs*28(2)|p.V143_S149del(2)|p.V143fs*29(1)|p.K139fs*4(1)|p.C141_P142insXX(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)		CCACAGCTGCACAGGGCAGGT	0.587000		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)				31			21		0	0	0.003330	0	0
COL2A1	1280	broad.mit.edu	37	12	48370602	48370602	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr12:48370602C>T	uc001rqu.3	-	47	3609	c.3428G>A	c.(3427-3429)gGc>gAc	p.G1143D	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1074D	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1143	Triple-helical region.		G -> S (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACAGGAGGGCCGGGCAGACC	0.647000														9			5		0	0	0.000602	0	0
SCAI	286205	broad.mit.edu	37	9	127734030	127734030	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:127734030C>T	uc004bpd.3	-	16	1684	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	SCAI_uc004bpe.3_Missense_Mutation_p.G498D|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	498					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCCCATAGGCCTCTGCGCAT	0.428000														92			54		0	0	0.014410	0	0
CDH4	1002	broad.mit.edu	37	20	60419868	60419868	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr20:60419868G>A	uc002ybn.2	+	4	809	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CDH4_uc002ybr.2_Missense_Mutation_p.A204T|CDH4_uc002ybp.2_Missense_Mutation_p.A167T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	241	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGCACGCCTCTTACCA	0.672000														19			10		0	0	0.010729	0	0
NLGN2	57555	broad.mit.edu	37	17	7318155	7318155	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7318155C>T	uc002ggt.1	+	3	905	c.832C>T	c.(832-834)Cac>Tac	p.H278Y		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	278					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GATCCTCTCCCACCATTCAGA	0.612000														43			13		0	0	0.013537	0	0
FMN1	342184	broad.mit.edu	37	15	33359620	33359620	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:33359620C>T	uc001zhf.4	-	0	466	c.466G>A	c.(466-468)Gag>Aag	p.E156K	FMN1_uc001zhg.2_Missense_Mutation_p.E156K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTCTGGCTCCTGGCCACCA	0.517000														69			4		0	0	0.009096	0	0
PDE4C	5143	broad.mit.edu	37	19	18329192	18329192	+	Silent	SNP	G	A	A	rs149723522		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr19:18329192G>A	uc010xqc.2	-	9	1662	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	PDE4C_uc002nik.4_Silent_p.A394A|PDE4C_uc002nil.4_Silent_p.A394A|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Silent_p.A164A|PDE4C_uc010ebk.3_Silent_p.A288A|PDE4C_uc002nii.4_Silent_p.A362A|PDE4C_uc002nif.4_Silent_p.A163A|PDE4C_uc010ebl.3_Silent_p.A108A	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	394					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCACGTCGGCGGCATGTA	0.637000														75			42		0	0	0.014410	0	0
N6AMT1	29104	broad.mit.edu	37	21	30254531	30254531	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:30254531T>C	uc002ymo.1	-	2	289	c.263A>G	c.(262-264)gAg>gGg	p.E88G	N6AMT1_uc002ymp.1_Missense_Mutation_p.E88G|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	88					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GCGTGCTGTCTCTAGGGTACA	0.358000														51			19		0	0	0.012319	0	0
MYOF	26509	broad.mit.edu	37	10	95148810	95148810	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr10:95148810A>G	uc001kin.3	-	17	1681	c.1558T>C	c.(1558-1560)Tat>Cat	p.Y520H	MYOF_uc001kio.3_Missense_Mutation_p.Y507H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	520					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTCATCATAGGGGTCTGGG	0.408000														134			3		0	0	0.009096	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893607	78893607	+	Silent	SNP	A	G	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:78893607A>G	uc002bec.3	-	4	1878	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	CHRNA3_uc002beb.3_Silent_p.N459N|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	459					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGGCTTCATTTTGTGCTT	0.408000														97			30		0	0	0.008361	0	0
TP53	7157	broad.mit.edu	37	17	7579362	7579362	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579362A>C	uc002gim.2	-	3	519	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_uc002gig.1_Missense_Mutation_p.F109V|TP53_uc002gih.3_Missense_Mutation_p.F109V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.F109V|TP53_uc010cnh.1_Missense_Mutation_p.F109V|TP53_uc002gij.2_Missense_Mutation_p.F109V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.F70V|TP53_uc010cnk.1_Missense_Mutation_p.F124V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.G108_F109delGF(4)|p.F109fs*16(4)|p.F109_R110delFR(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G108del(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.F109V(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.G108S(1)|p.W91fs*13(1)|p.G108D(1)|p.G108G(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.G108fs*41(1)|p.F109F(1)|p.P13fs*18(1)|p.G108fs*15(1)|p.F109_R110insXX(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)		CCCAGACGGAAACCGTAGCTG	0.612000		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)				38			23		0	0	0.003330	0	0
abParts	0	broad.mit.edu	37	22	22782218	22782218	+	RNA	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr22:22782218C>T	uc021wml.1	+	71		c.7354C>T								Parts of antibodies, mostly variable regions.																		TGTACTACTACTCAGACTCAG	0.532000														45			24		0	0	0.002780	0	0
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr11:92085432G>A	uc001pdj.4	+	0	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	52	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488000										TCGA Ovarian(4;0.039)				35			5		0	0	0.000602	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr12:106820987C>T	uc001tlp.3	+	12	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_uc001tlq.3_Missense_Mutation_p.L314F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000														16			4		0	0	0.009096	0	0
SYNE2	23224	broad.mit.edu	37	14	64457244	64457244	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr14:64457244C>G	uc001xgl.3	+	19	2659	c.2429C>G	c.(2428-2430)aCt>aGt	p.T810S	SYNE2_uc001xgm.3_Missense_Mutation_p.T810S|SYNE2_uc021ruh.1_Missense_Mutation_p.T810S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	810					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTCTCACAACTGGGCTTCAG	0.378000														111			28		0	0	0.005443	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357209	104357209	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:104357209A>C	uc004bbr.3	-	0	75	c.4T>G	c.(4-6)Tcc>Gcc	p.S2A	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	0							calcium ion binding	p.M1I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCCATTGTGGACATCTGGCAA	0.607000														45			22		0	0	0.002780	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr18:3879577G>A	uc002kmf.3	-	3	1019	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_uc010wyz.2_Silent_p.N164N|DLGAP1_uc002kmk.2_Silent_p.N164N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711000														84			33		0	0	0.013726	0	0
TP53	7157	broad.mit.edu	37	17	7579363	7579363	+	Silent	SNP	A	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579363A>C	uc002gim.2	-	3	518	c.324T>G	c.(322-324)ggT>ggG	p.G108G	TP53_uc002gig.1_Silent_p.G108G|TP53_uc002gih.3_Silent_p.G108G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Silent_p.G108G|TP53_uc010cnh.1_Silent_p.G108G|TP53_uc002gij.2_Silent_p.G108G|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Silent_p.G69G|TP53_uc010cnk.1_Silent_p.G123G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	108	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (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.0?(8)|p.Y107*(8)|p.Y107D(5)|p.G108_F109delGF(4)|p.G108del(4)|p.Y107Y(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.Y107fs*38(2)|p.G108G(2)|p.Y107fs*44(2)|p.Y103_G112>C(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107Q(1)|p.G108S(1)|p.W91fs*13(1)|p.G108D(1)|p.Y107C(1)|p.V73fs*9(1)|p.S33fs*23(1)|p.S106_Y107delSY(1)|p.G108fs*41(1)|p.?_?ins?(1)|p.P13fs*18(1)|p.G108fs*15(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)		CCAGACGGAAACCGTAGCTGC	0.617000		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)				37			23		0	0	0.003330	0	0
C22orf29	79680	broad.mit.edu	37	22	19839287	19839287	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr22:19839287G>C	uc002zqg.3	-	1	1097	c.498C>G	c.(496-498)gaC>gaG	p.D166E	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.D166E|C22orf29_uc002zqi.3_Missense_Mutation_p.D166E|C22orf29_uc021wli.1_Missense_Mutation_p.D166E	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	166										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCTCGTAATCGTCAGGCAGGG	0.597000														98			4		0	0	0.001168	0	0
SHPRH	257218	broad.mit.edu	37	6	146215310	146215310	+	Silent	SNP	T	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:146215310T>C	uc003qlf.3	-	26	5070	c.4671A>G	c.(4669-4671)caA>caG	p.Q1557Q	SHPRH_uc003qle.3_Silent_p.Q1561Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1557	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACGACTGATTTGTGCAAATT	0.313000														32			4		0	0	0.000602	0	0
TEX15	56154	broad.mit.edu	37	8	30702110	30702110	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:30702110T>C	uc003xil.3	-	0	4424	c.4424A>G	c.(4423-4425)tAc>tGc	p.Y1475C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1475										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCTTTTGTAAACAGAATC	0.338000														42			39		0	0	0.005524	0	0
DNAH8	1769	broad.mit.edu	37	6	38893890	38893890	+	Silent	SNP	T	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893890T>A	uc021yzh.1	+	73	11131	c.11022T>A	c.(11020-11022)atT>atA	p.I3674I	DNAH8_uc003ooe.2_Silent_p.I3457I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAATGGCATTATTGTGACAA	0.408000														116			15		0	0	0.004007	0	0
COQ10B	80219	broad.mit.edu	37	2	198338608	198338608	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:198338608T>C	uc002uuh.1	+	4	731	c.677T>C	c.(676-678)aTa>aCa	p.I226T	COQ10B_uc010fsl.1_Missense_Mutation_p.I198T	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	226						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAAACAAATATACCTCGGGAG	0.413000														42			31		0	0	0.004878	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543729	141543729	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr4:141543729G>A	uc010ioj.3	-	20	3693	c.3421C>T	c.(3421-3423)Cgg>Tgg	p.R1141W		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1141						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCGTTGTCCCGGGGCGAGGAG	0.637000														79			20		0	0	0.012319	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									48			28		0	0	0.010818	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:170871082G>A	uc003qxu.3	+	2	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_uc011ehf.2_Silent_p.Q66Q|TBP_uc003qxt.3_Silent_p.Q86Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000														13			4		0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38893891	38893891	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893891A>T	uc021yzh.1	+	73	11132	c.11023A>T	c.(11023-11025)Att>Ttt	p.I3675F	DNAH8_uc003ooe.2_Missense_Mutation_p.I3458F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATGGCATTATTGTGACAAA	0.413000														115			16		0	0	0.004990	0	0
UBR5	51366	broad.mit.edu	37	8	103359284	103359284	+	Silent	SNP	T	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:103359284T>C	uc003ykr.2	-	5	878	c.423A>G	c.(421-423)ggA>ggG	p.G141G	UBR5_uc003yks.2_Silent_p.G141G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	141					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAGGATCCTCCACCACTTC	0.483000														87			72		0	0	0.014410	0	0
DLC1	10395	broad.mit.edu	37	8	12952306	12952306	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:12952306G>A	uc003wwm.2	-	11	3932	c.3488C>T	c.(3487-3489)aCg>aTg	p.T1163M	DLC1_uc003wwk.1_Missense_Mutation_p.T726M|DLC1_uc003wwl.1_Missense_Mutation_p.T760M|DLC1_uc011kxx.1_Missense_Mutation_p.T652M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1163	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.T1163M(2)|p.T1163T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTTTGTTCGTCATTAGTGG	0.448000														34			31		0	0	0.003755	0	0
PRDM2	7799	broad.mit.edu	37	1	14143064	14143064	+	Splice_Site	SNP	A	G	G			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:14143064A>G	uc001avi.3	+	9	6036	c.5180_splice	c.e9+1		PRDM2_uc001avg.3_Splice_Site_p.A219_splice|PRDM2_uc009voe.3_Splice_Site|PRDM2_uc009vof.3_Splice_Site	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCTCCCTGACAGGTACGAGGC	0.577000														27			6		0	0	0.001984	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86542420	86542420	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr7:86542420G>C	uc011kha.2	-	13	2017	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	KIAA1324L_uc003uie.3_Missense_Mutation_p.S444C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S497C|KIAA1324L_uc003uif.2_Missense_Mutation_p.S363C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	611						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CGACTGTTCAGAACCGAGGGC	0.517000														53			11		0	0	0.010729	0	0
PDIK1L	149420	broad.mit.edu	37	1	26448766	26448766	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:26448766G>A	uc010oew.2	+	2	997	c.724G>A	c.(724-726)Gct>Act	p.A242T	PDIK1L_uc001blj.4_Missense_Mutation_p.A242T|PDIK1L_uc009vsb.3_Missense_Mutation_p.A242T	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	242	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGACATCTTTGCTCTGGGGAT	0.423000														63			30		0	0	0.006320	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	273	---	---	8	---					
ZNF23	7571	broad.mit.edu	37	16	71483441	71483444	+	Frame_Shift_Del	DEL	AATT	-	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr16:71483441_71483444delAATT	uc002faf.3	-	5	1298_1301	c.484_487delAATT	c.(484-489)aattctfs	p.N162fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.N162fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.N104fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.N104fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.N104fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.N201fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S163F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTTTCCTCAGAATTAATTATTTCA	0.402													---	109	---	---	10	---					
ATRX	546	broad.mit.edu	37	X	76938777	76938777	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chrX:76938777delT	uc004ecp.4	-	8	2203	c.1971delA	c.(1969-1971)ccafs	p.P657fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.P619fs|ATRX_uc004eco.4_Frame_Shift_Del_p.P442fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.P589fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.P628fs|ATRX_uc010nly.1_Frame_Shift_Del_p.P602fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	657					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTTTACACGTGGGGATCTTC	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	43	---	---	147	---					
