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
RIMBP2	23504	broad.mit.edu	37	12	130919389	130919389	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr12:130919389C>T	ENST00000261655.4	-	11	2255	c.2092G>A	c.(2092-2094)Gcg>Acg	p.A698T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A606T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A606T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	698						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACTGCCCCGCGCTGCTTCTC	0.592000													16	65					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76888813	76888813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76888813C>T	ENST00000373344.5	-	19	5230	c.5016G>A	c.(5014-5016)tgG>tgA	p.W1672*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W1634*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1672	Helicase ATP-binding.				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)	CATCTTCTTGCCACCTCTGCA	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						57	54					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483617	56483617	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:56483617G>C	ENST00000370765.6	-	23	5322	c.5215C>G	c.(5215-5217)Ctg>Gtg	p.L1739V	DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1118					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGAAACAGAACCATCTTT	0.373000													44	90					0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101331483	101331483	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:101331483T>C	ENST00000296420.4	-	11	959	c.781A>G	c.(781-783)Aac>Gac	p.N261D	EMCN_ENST00000511970.1_Missense_Mutation_p.N248D|EMCN_ENST00000305864.3_Missense_Mutation_p.N178D	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	261						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AGCTGTCAGTTCTTGGTTTTT	0.388000													18	36					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939874	76939874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939874G>A	ENST00000373344.5	-	9	1088	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q254*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	292	ADD.				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)	TTATTTTGCTGCAACAACTGT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	31					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148780	34148780	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:34148780C>T	ENST00000346193.3	-	1	1667	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	539										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACTCGACGAGTCTT	0.642000													32	10					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214087	1214087	+	Missense_Mutation	SNP	C	C	A	rs148139045	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:1214087C>A	ENST00000304460.10	+	6	850	c.794C>A	c.(793-795)cCg>cAg	p.P265Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657000													4	96					0.000602214	0.000684335	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								16	30					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618812	618812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr11:618812G>A	ENST00000358353.3	-	14	2069	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687000													5	164					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40309802	40309802	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr1:40309802C>A	ENST00000316891.5	-	10	1219	c.1205G>T	c.(1204-1206)cGa>cTa	p.R402L	TRIT1_ENST00000545233.1_Missense_Mutation_p.R156L|TRIT1_ENST00000537440.1_Missense_Mutation_p.R98L|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Missense_Mutation_p.R20L|TRIT1_ENST00000441669.2_Missense_Mutation_p.R320L|TRIT1_ENST00000537223.1_Missense_Mutation_p.R98L|TRIT1_ENST00000372818.1_Missense_Mutation_p.R376L	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	402					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGATGATTCGATCACAGAG	0.448000													3	45					0.004672	0.00507826	1	1	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	20					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169845150	169845150	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr1:169845150G>C	ENST00000367772.4	-	4	631	c.434C>G	c.(433-435)aCt>aGt	p.T145S	SCYL3_ENST00000367770.1_Missense_Mutation_p.T145S|SCYL3_ENST00000367771.5_Missense_Mutation_p.T145S|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	145	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTACAAACAGTTTCCATTCC	0.438000													3	50					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	24					0	0	1	0	0
TBC1D27	0	broad.mit.edu	37	17	16831055	16831055	+	RNA	SNP	G	G	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:16831055G>T	ENST00000261651.2	-	0	2714																											ATCTTCCTCCGGCAGATAAAG	0.632000													3	26					1	1	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262043	45262043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:45262043G>A	ENST00000303230.4	-	8	2710	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCAAATCGTGGCTTTTCT	0.453000													37	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; 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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552000		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)			16	24					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522000													8	120					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:78172192C>T	ENST00000369947.2	-	1	1298	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	310					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTGGCTTTGCGCTCCCTAGC	0.522000													4	169					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474792	73474792	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:73474792G>C	ENST00000252034.7	+	25	2107	c.1708G>C	c.(1708-1710)Gga>Cga	p.G570R	ELN_ENST00000320492.7_Missense_Mutation_p.G489R|ELN_ENST00000380575.4_Missense_Mutation_p.G541R|ELN_ENST00000414324.1_Missense_Mutation_p.G546R|ELN_ENST00000380553.4_Missense_Mutation_p.G434R|ELN_ENST00000380562.4_Missense_Mutation_p.G576R|ELN_ENST00000380576.5_Missense_Mutation_p.G551R|ELN_ENST00000458204.1_Missense_Mutation_p.G560R|ELN_ENST00000357036.5_Missense_Mutation_p.G575R|ELN_ENST00000445912.1_Missense_Mutation_p.G570R|ELN_ENST00000320399.6_Missense_Mutation_p.G570R|ELN_ENST00000380584.4_Missense_Mutation_p.G522R|ELN_ENST00000358929.4_Missense_Mutation_p.G605R|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.G556R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	599	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTTCCTGGACTTGGAGT	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						4	77					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128179	152128179	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr1:152128179T>G	ENST00000316073.3	-	3	1460	c.1396A>C	c.(1396-1398)Aca>Cca	p.T466P		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	466	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTGTCTGACCATAG	0.498000													7	855					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1510251	1510252	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:1510251_1510252delCG	ENST00000389470.4	-	49	7145_7146	c.7146_7147delCG	c.(7144-7149)tcagfs	p.SE2382fs	INTS1_ENST00000404767.3_Frame_Shift_Del_p.SE2178fs			Q8N201	INT1_HUMAN	integrator complex subunit 1	2178					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCAGGGCCTCGGAGATCTGCG	0.703													2	4	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104730554	104730573	+	Frame_Shift_Del	DEL	AGACCAGACGGAAAAAAGGA	AGACCAGACGGAAAAAAGGA	-	rs61743286		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:104730554_104730573delAGACCAGACGGAAAAAAGGA	ENST00000334877.4	+	14	1991_2010	c.1457_1476delAGACCAGACGGAAAAAAGGA	c.(1456-1476)gfs	p.ETRRKKG486fs	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Frame_Shift_Del_p.ETRRKKG486fs|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.ETRRKKG486fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.ETRRKKG486fs					lysine (K)-specific methyltransferase 2E																		AGTGGTTATGAGACCAGACGGAAAAAAGGAAAAAAAGACA	0.364													12	90	---	---	---	---					
PYY2	0	broad.mit.edu	37	17	26554375	26554375	+	RNA	DEL	T	T	-			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:26554375delT	ENST00000441253.2	+	0	360					NR_003064.2																						GCCACGGTGCTTTTGGCCCTG	0.672													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939882	76939890	+	In_Frame_Del	DEL	TGTTCTAAA	TGTTCTAAA	-			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939882_76939890delTGTTCTAAA	ENST00000373344.5	-	9	1072_1080	c.858_866delTTTAGAACA	c.(856-867)aag>aa	p.NLEQ286del	ATRX_ENST00000395603.3_In_Frame_Del_p.NLEQ248del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	286	ADD.				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)	CTGCAACAACTGTTCTAAATTCTCAAATA	0.354			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	45	---	---	---	---