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
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								3	66					0	0	1	0	0
TCEB1	6921	broad.mit.edu	37	8	74858991	74858991	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	ENST00000518127.1	-	4	305	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000522337.1_Silent_p.S71S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000284811.8_Silent_p.S71S|TCEB1_ENST00000520242.1_Silent_p.S71S	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398000													3	52					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	ENST00000261574.5	+	17	1805	c.1625A>G	c.(1624-1626)gAa>gGa	p.E542G	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G|IPO5_ENST00000490680.1_Missense_Mutation_p.E524G	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	524					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATACTGCAGAAGAAAAATTT	0.388000													15	150					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	ENST00000348513.6	-	6	1092	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	104					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408000													8	149					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	ENST00000244289.4	-	1	1000	c.724T>A	c.(724-726)Tca>Aca	p.S242T	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	242					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGTGTCTGAAGATGATCCC	0.473000													41	59					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	101					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126075804	126075804	+	Silent	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	ENST00000318410.7	-	11	1717	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_ENST00000517845.1_Silent_p.V308V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	456					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCCTGAAAAGACATCAGCAA	0.423000													58	126					0	0	1	0	0
GJB2	0	broad.mit.edu	37	13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	ENST00000382844.1	-	1	519	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	107					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	1	0	0
AP000346.2	0	broad.mit.edu	37	22	23981016	23981016	+	RNA	SNP	A	A	G	rs111645330		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr22:23981016A>G	ENST00000390329.2	-	0	112				AP000347.4_ENST00000430707.2_RNA																							CCAGGTCACCATCAAGATTCC	0.552000													3	64					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483000													25	51					0	0	1	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	rs2989545	by1000genomes	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602000													3	31					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	ENST00000523207.1	+	3	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	498					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCCAGGAAGGCTCTGTCGGA	0.542000													36	94					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	ENST00000589228.1	+	9	917	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	263					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				13	115					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57147304	57147304	+	Silent	SNP	C	C	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	ENST00000535318.2	+	4	646	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582000													9	53					0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	ENST00000435224.2	-	11	2702	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	574							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCGAGTACCGCGACTGCGAG	0.617000													3	21					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	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								29	85					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	ENST00000431169.1	-	19	1819	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.E507*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	507					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408000													4	71					0.150653	0.150653	1	1	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													4	133					0	0	1	0	0
GJB2	0	broad.mit.edu	37	13	20763148	20763148	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	ENST00000382844.1	-	1	771	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_ENST00000382848.4_Silent_p.F191F			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	191			F -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488000									Keratitis, Ichthyosis and Deafness syndrome				4	66					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957504	49957504	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	ENST00000376056.2	-	5	1983	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E|AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E|AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	620					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463000													9	208					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	ENST00000275820.3	+	1	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGGCGCTTTTAGCGGCGAAC	0.672000													18	62					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	92					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567818	73567818	+	Silent	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	ENST00000392550.3	+	18	2364	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_ENST00000577200.1_Silent_p.V749V|LLGL2_ENST00000167462.5_Silent_p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	749					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTGCGTGTGCCTCCCGCCG	0.672000													7	72					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	ENST00000356327.5	-	10	1113	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000351298.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	348					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413000													34	84					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269773	67269773	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	ENST00000356404.3	-	4	630	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_ENST00000534749.1_Silent_p.Q135Q|PITPNM1_ENST00000436757.2_Silent_p.Q135Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	135					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612000													23	53					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	ENST00000389658.3	-	37	5314	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1741	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAATTCTTCCAGCGGCTTC	0.428000													4	94					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	ENST00000428797.2	+	11	1569	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	405					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCGAAACAAAACCACCAGAA	0.473000													5	118					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61183777	61183777	+	Silent	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	ENST00000340437.4	-	6	974	c.894T>C	c.(892-894)ccT>ccC	p.P298P	CPSF7_ENST00000448745.1_Silent_p.P246P|CPSF7_ENST00000394888.4_Silent_p.P255P|CPSF7_ENST00000439958.3_Silent_p.P246P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	255	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGAGGAGGGACCCCAA	0.617000													3	68					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													3	37					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	ENST00000392650.3	-	15	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	667	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCGTTGACGGCACAAAGACG	0.617000													4	82					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	ENST00000401766.2	-	3	930	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	140					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGGTACTGTCCCAGTGCGAGC	0.507000													64	140					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	ENST00000357742.4	+	1	139	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	47					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTGGACCGCCGTCTCAGCCT	0.592000													6	54					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	ENST00000315765.9	+	12	2203	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	732	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517000													23	65					0	0	1	0	0
RP11-726G1.1	0	broad.mit.edu	37	12	9717870	9717870	+	RNA	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:9717870A>T	ENST00000520314.1	+	0	4299																											CCAACGGATGAATTCCCATGG	0.448000													16	16					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													5	130					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117032912	117032912	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	ENST00000371876.1	-	6	4195	c.1774A>C	c.(1774-1776)Aca>Cca	p.T592P	KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P|KLHL13_ENST00000262820.3_Missense_Mutation_p.T643P			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	643					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418000													12	135					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015610	41015610	+	Silent	SNP	C	C	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000508593.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000513140.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512000													54	142					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930579	42930579	+	Silent	SNP	A	A	T			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	ENST00000244289.4	-	1	999	c.723T>A	c.(721-723)tcT>tcA	p.S241S	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	241					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTCTGAAGATGATCCCA	0.473000													40	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			21	12					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166611	21166611	+	Translation_Start_Site	SNP	T	T	C			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr9:21166611T>C	ENST00000380225.1	-	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACAGGGCCATTGGGATGTTG	0.488000													25	58					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr1:150530506delG	ENST00000271643.4	+	14	2499	c.2263delG	c.(2263-2265)ggfs	p.G758fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	758	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692													8	191	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	ENST00000192788.5	+	7	922	c.751delA	c.(751-753)agfs	p.K251fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	251										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCACAGCTCAAGGCTATGAT	0.493													11	162	---	---	---	---					
NCR2	9436	broad.mit.edu	37	6	41303645	41303647	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:41303645_41303647delCTG	ENST00000373083.4	+	1	253_255	c.31_33delCTG	c.(31-33)del	p.L15del	NCR2_ENST00000373086.3_In_Frame_Del_p.L15del|NCR2_ENST00000373089.5_In_Frame_Del_p.L15del	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	15					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCACTGCTACTGCTGCTGCTGC	0.635													2	4	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													8	63	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													8	114	---	---	---	---					
ACVRL1	94	broad.mit.edu	37	12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	ENST00000550683.1	+	6	915		c.e6-1		ACVRL1_ENST00000388922.4_Splice_Site|ACVRL1_ENST00000419526.2_Splice_Site	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615													8	38	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aafs	p.KE523fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								17	25	---	---	---	---