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
CROCCP2	84809	broad.mit.edu	37	1	16946393	16946393	+	RNA	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126																											TCCTGCTGCAGGGCAGCAATC	0.662													3	22	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328894	152328894	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:152328894A>T	ENST00000388718.5	-	3	1440	c.1368T>A	c.(1366-1368)caT>caA	p.H456Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	456	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTAGACTCATGCTGGCCAC	0.493													4	154	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185159704	185159704	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:185159704G>T	ENST00000367500.4	+	10	1618	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	485	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGAGAACAATGATGATCGAGT	0.363													10	30	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	215274874	215274874	+	Silent	SNP	A	A	G			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr2:215274874A>G	ENST00000331683.5	+	16	1826	c.1731A>G	c.(1729-1731)ttA>ttG	p.L577L	AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTCGAGTTTTAGCTCAGGCAA	0.413													3	48	---	---	---	---
ST3GAL6	10402	broad.mit.edu	37	3	98487336	98487336	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr3:98487336G>T	ENST00000394162.1	+	3	519	c.52G>T	c.(52-54)Gta>Tta	p.V18L	ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	18					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCTCTATTATGTACTGCATTG	0.398													41	88	---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123848881	123848881	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr4:123848881G>C	ENST00000274008.4	+	2	325	c.256G>C	c.(256-258)Gtg>Ctg	p.V86L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGGTCGACCAGTGTTGCTTAC	0.343													34	55	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10556756	10556756	+	Nonsense_Mutation	SNP	C	C	T	rs55965450		TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:10556756C>T	ENST00000316170.3	+	1	517	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	35						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCAAGCTTCCAAAGGCTAAA	0.373													36	70	---	---	---	---
CNR1	1268	broad.mit.edu	37	6	88853757	88853757	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr6:88853757G>A	ENST00000537554.1	-	2	4799	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	413					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCACAAGAGGGAAACATGCTC	0.562													33	75	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48776073	48776073	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr8:48776073C>A	ENST00000314191.2	-	43	5690	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1879					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAGAATACATCACGTCTAGAA	0.333								Non-homologous end-joining					35	70	---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132401543	132401543	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr9:132401543C>T	ENST00000277458.4	-	4	614	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	150					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCAGGCGCTCAGGCTC	0.652													25	69	---	---	---	---
ATM	472	broad.mit.edu	37	11	108199783	108199783	+	Silent	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr11:108199783T>C	ENST00000278616.4	+	49	7510	c.7125T>C	c.(7123-7125)agT>agC	p.S2375S	ATM_ENST00000452508.2_Silent_p.S2375S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2375	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGGAGAAAGTAGTGATGAGC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	27	---	---	---	---
CUL4A	8451	broad.mit.edu	37	13	113887612	113887612	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr13:113887612A>C	ENST00000451881.1	+	6	583	c.334A>C	c.(334-336)Agc>Cgc	p.S112R	CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	212					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CGTGGACCGGAGCCTGTTGCG	0.542													13	41	---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54872560	54872560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:54872560C>T	ENST00000391743.3	-	2	553	c.273G>A	c.(271-273)tgG>tgA	p.W91*	LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	109	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCTGCTCAGACCATTTAGGGG	0.557													32	95	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56223890	56223890	+	Silent	SNP	C	C	A			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr19:56223890C>A	ENST00000332836.2	-	7	2595	c.2568G>T	c.(2566-2568)ggG>ggT	p.G856G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	856						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTTCAGTTTCCCATTGCAAA	0.448													10	25	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61541166	61541166	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr20:61541166T>C	ENST00000266070.4	-	4	1371	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	349					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTGTACAATCGGTGCCATC	0.463													30	68	---	---	---	---
ALAS2	212	broad.mit.edu	37	X	55039950	55039950	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chrX:55039950G>T	ENST00000330807.5	-	10	1706	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	523					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGCTGTGGTGGGGGGAGG	0.572													12	7	---	---	---	---
CYP2J2	1573	broad.mit.edu	37	1	60377936	60377936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WL-01A-11D-A377-08	TCGA-V1-A8WL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aca1a7-bdad-4b88-88b7-6c6f7bd62490	ea6da482-f7f1-4a1a-8380-b96418427d42	g.chr1:60377936delT	ENST00000371204.3	-	3	464	c.421delA	c.(421-423)actfs	p.T141fs	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	141					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GCTGTCAGAGTGAACCTTCTT	0.418													9	124	---	---	---	---
