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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	89					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:86373300G>A	ENST00000604798.1	-	8	2408	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*	MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	402					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCATTTTGCCGATCTTCT	0.343000													16	34					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACCAGGAGGCGGAGGAGGCG	0.657000													21	59					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124530868	124530868	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:124530868A>G	ENST00000408936.3	+	10	2037	c.1855A>G	c.(1855-1857)Agc>Ggc	p.S619G	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	619					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGAGCTCTCCAGCCTGCACTC	0.637000													25	38					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228381	61228381	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:61228381A>C	ENST00000382768.1	+	4	508	c.508A>C	c.(508-510)Aac>Cac	p.N170H	SERPINB12_ENST00000269491.1_Missense_Mutation_p.N150H			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	150					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTCCAAAAAAACCCTGAAAA	0.368000													8	86					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98935818	98935818	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:98935818C>A	ENST00000262942.5	+	3	203	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448000													3	22					0.00909568	0.00909568	1	1	0
TMEM14E	645843	broad.mit.edu	37	3	152058331	152058331	+	Silent	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:152058331T>C	ENST00000408960.3	-	1	448	c.363A>G	c.(361-363)ggA>ggG	p.G121G	MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000282488.7_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	121						integral to membrane				lung(1)	1						TCTTCATGAGTCCAAGCTGAG	0.348000													6	90					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586723	50586723	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:50586723A>C	ENST00000378182.3	+	2	1385	c.647A>C	c.(646-648)gAc>gCc	p.D216A	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	216					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGCATATGACCCAGAGATC	0.398000													5	28					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166747103	166747103	+	Missense_Mutation	SNP	C	C	T	rs144103331		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:166747103C>T	ENST00000243344.7	-	24	3286	c.3149G>A	c.(3148-3150)cGg>cAg	p.R1050Q	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACGATCTTTCCGAGCTTTATT	0.343000													4	54					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128587366	128587366	+	Silent	SNP	C	C	T	rs60344245		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:128587366C>T	ENST00000402030.2	+	6	588	c.516C>T	c.(514-516)ccC>ccT	p.P172P	IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000249375.4_Silent_p.P172P|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	172				EDVKWPPTLQPPTLR -> DAVQSGPHMTPYSLLKEDVKW (in Ref. 1; AAA96056).	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCAGCCGCCCACTCTGCGGC	0.657000													4	15					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393000													5	165					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153054155	153054155	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:153054155G>C	ENST00000285900.5	+	6	1138	c.795G>C	c.(793-795)aaG>aaC	p.K265N	GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	265					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCGGCCAAGATCATGCAGC	0.527000													4	112					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35153849	35153849	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr21:35153849C>T	ENST00000381318.3	+	15	1969	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	561	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACAGTTTGCACAGTAGGTG	0.408000													4	71					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448000													55	198					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	26					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081033	54081033	+	Silent	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:54081033T>C	ENST00000394705.2	-	2	1131	c.861A>G	c.(859-861)ggA>ggG	p.G287G	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	287						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTTGGTATATCCACGGGTCT	0.562000													4	19					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237890418	237890418	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:237890418T>C	ENST00000366574.2	+	76	11074	c.10757T>C	c.(10756-10758)gTa>gCa	p.V3586A	RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A|RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3586					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAAGGCTGTATGGCATAAA	0.393000													4	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595691	82595691	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:82595691G>T	ENST00000423517.2	-	4	3750	c.3413C>A	c.(3412-3414)cCt>cAt	p.P1138H	PCLO_ENST00000333891.8_Missense_Mutation_p.P1138H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1077					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGGAACAGGCATAGGAGA	0.428000													6	53					0.00307968	0.00322633	1	1	0
PCDHB8	0	broad.mit.edu	37	5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		538	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667000													4	209					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136686877	136686877	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:136686877G>A	ENST00000354570.3	-	10	1679	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	MAP7_ENST00000432797.2_Silent_p.G277G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000438100.2_Silent_p.G408G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	423	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTACCAGGGCCAACTTCTG	0.463000													3	47					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916574	13916574	+	Silent	SNP	G	G	A	rs145281257	by1000genomes	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:13916574G>A	ENST00000285018.4	-	2	472	c.168C>T	c.(166-168)ccC>ccT	p.P56P	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	56					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGATGGCGTCGGGCCGGCTCT	0.602000													6	36					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527000													5	208					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454053	37454053	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr10:37454053G>A	ENST00000374660.1	+	18	1965	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ANKRD30A_ENST00000602533.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	678						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294000													13	14					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547000		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)			17	11					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677012	7677012	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7677012G>A	ENST00000446248.2	+	13	1815	c.1714G>A	c.(1714-1716)Gag>Aag	p.E572K	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E545K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	545					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCCCCATCCGAGGGGTCCCC	0.617000													8	22					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93181751	93181751	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93181751T>C	ENST00000322349.8	-	22	3306	c.3042A>G	c.(3040-3042)atA>atG	p.I1014M		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1014	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAATACTGATATTTTCTCTT	0.378000													3	33					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17641666	17641666	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:17641666C>T	ENST00000335393.4	+	3	389	c.251C>T	c.(250-252)cCg>cTg	p.P84L	FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000449408.2_Intron	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	84										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCTCAGGAGCCGACCGGAAGC	0.637000													6	38					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63579299	63579299	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:63579299G>A	ENST00000374852.3	-	2	200	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTCTTTCCGGGCTGCACCT	0.408000													9	37					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65074523	65074523	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:65074523G>C	ENST00000358691.5	-	33	5840	c.5674C>G	c.(5674-5676)Ccc>Gcc	p.P1892A	HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GACATGGCGGGCTTGCCCCCC	0.627000													4	115					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	742321	742321	+	Silent	SNP	C	C	G			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:742321C>G	ENST00000382303.1	+	14	4465	c.3813C>G	c.(3811-3813)ctC>ctG	p.L1271L	KANK1_ENST00000382293.3_Silent_p.L1113L|KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1271					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCACGGCCCTCATGTGTGCCA	0.602000													3	47					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|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)	CTTCTTCCTTGACTGTGCAGT	0.313000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						16	102					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95686882	95686882	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:95686882C>T	ENST00000376887.4	-	30	3961	c.3847G>A	c.(3847-3849)Gcc>Acc	p.A1283T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1283					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGTGAGGGCAGCGGCTTCT	0.473000													5	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								20	29					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627000													4	22					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290560	57290560	+	Silent	SNP	A	A	C			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:57290560A>C	ENST00000543872.2	+	4	2640	c.2376A>C	c.(2374-2376)acA>acC	p.T792T	SMG8_ENST00000300917.5_Silent_p.T792T|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	792					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTCCAGGAACAAATTATCTTA	0.428000													5	106					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507000													19	50					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460800	12460800	+	Silent	SNP	G	G	A			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:12460800G>A	ENST00000242804.4	-	6	2181	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	ZNF442_ENST00000438182.1_Silent_p.V464V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCTTTCATGGACTTTTAAGT	0.388000													23	38					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817919	77817922	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:77817919_77817922delAGAG	ENST00000334306.2	-	1	1080_1083	c.1081_1084delCTCT	c.(1081-1086)ttfs	p.LF361fs		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	361																	ACAACAGGAAAGAGAGAGTGCGAG	0.578													8	120	---	---	---	---					
ZNF273	10793	broad.mit.edu	37	7	64388965	64388966	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:64388965_64388966delAT	ENST00000476120.1	+	4	1330_1331	c.1259_1260delAT	c.(1258-1260)cfs	p.H420fs	ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTACTAAACATAAGAGAATTT	0.337													7	33	---	---	---	---					
STEAP4	79689	broad.mit.edu	37	7	87913524	87913525	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:87913524_87913525delTC	ENST00000380079.4	-	2	161_162	c.60_61delGA	c.(58-63)gactfs	p.ET20fs	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	20					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATACATACAGTCTCTTGCTTTT	0.347													7	53	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269													7	140	---	---	---	---					
NUDT4	11163	broad.mit.edu	37	12	93793075	93793076	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93793075_93793076delAC	ENST00000337179.5	+	5	906_907	c.466_467delAC	c.(466-468)afs	p.T156fs	NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.T155fs|NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	155					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						TGGAAATTCTACAGTCCCTTCC	0.460													16	151	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67872445	67872446	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:67872445_67872446delAA	ENST00000255674.6	-	2	423_424	c.137_138delTT	c.(136-138)tfs	p.F46fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	46							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAATGAAGAAAAAGTTGCCT	0.455													11	77	---	---	---	---					
SNRNP70	6625	broad.mit.edu	37	19	49611507	49611507	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:49611507delG	ENST00000221448.5	+	10	1290	c.1094delG	c.(1093-1095)ctfs	p.R365fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.R374fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	374	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						gaccgtgaccgtgaccgcgag	0.741													2	4	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56465952	56465954	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:56465952_56465954delCTT	ENST00000291971.3	+	3	599_601	c.528_530delCTT	c.(526-531)gac>ga	p.DF176del	NLRP8_ENST00000590542.1_In_Frame_Del_p.DF176del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	176						cytoplasm	ATP binding	p.F178delF(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAGAGGGACTTCTTCTACCAA	0.483													12	89	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76778806	76778807	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76778806_76778807delAA	ENST00000373344.5	-	31	6986_6987	c.6772_6773delTT	c.(6772-6774)gfs	p.L2258fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2258					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			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)	TTTGTGGTCCAAAAGAGAATCA	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	152	---	---	---	---