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
SGCZ	137868	broad.mit.edu	37	8	14181681	14181681	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr8:14181681C>T	ENST00000382080.1	-	3	982	c.267G>A	c.(265-267)aaG>aaA	p.K89K	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	76					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCGGATTCCCTTCTTGGTGA	0.358000													14	22					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5002336	5002336	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:5002336T>A	ENST00000380051.2	-	2	311	c.267A>T	c.(265-267)aaA>aaT	p.K89N	RPP40_ENST00000319533.5_Splice_Site_p.K89N|RPP40_ENST00000464646.1_Splice_Site_p.K29N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	89					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TTTTCTTACCTTTCTTTATAA	0.408000													10	143					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043104	108043104	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:108043104A>G	ENST00000278612.8	-	13	2712	c.2607T>C	c.(2605-2607)gcT>gcC	p.A869A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	869					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACACAGGTAGCTATCAGAA	0.433000													4	108					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437212	1437212	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:1437212A>G	ENST00000345913.4	+	4	273	c.182A>G	c.(181-183)aAc>aGc	p.N61S	TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000382269.3_Missense_Mutation_p.N61S|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S|TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.N61S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	61					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCATAGAAACCTCAAGAAA	0.363000													3	75					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505472	159505472	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:159505472G>C	ENST00000334857.2	-	1	370	c.326C>G	c.(325-327)aCt>aGt	p.T109S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCAATTATTAGTGGCCAAGAT	0.458000													14	55					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698669	111698669	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:111698669T>C	ENST00000340433.2	+	1	943	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	238							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCTTCCTTGATCCAACAC	0.542000													112	151					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114239726	114239726	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr4:114239726C>T	ENST00000357077.4	+	26	2903	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	ANK2_ENST00000394537.3_Silent_p.G950G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000264366.6_Silent_p.G950G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	950					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCTGGGGCACTGAGAACT	0.403000													10	10					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106229295	106229295	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:106229295A>G	ENST00000355610.4	-	4	718	c.444T>C	c.(442-444)gtT>gtC	p.V148V	MORC4_ENST00000255495.7_Silent_p.V148V|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	148							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATAGAAGTCCAACAGTGAGAG	0.473000													81	113					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30216366	30216366	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:30216366C>T	ENST00000261708.4	-	7	618	c.481G>A	c.(481-483)Gca>Aca	p.A161T	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	161					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGTTGCCTTGCGCTTTCTGAA	0.393000													22	199					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422897	20422897	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:20422897G>C	ENST00000331849.4	+	2	238	c.91G>C	c.(91-93)Gtt>Ctt	p.V31L	ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	31					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCTCTACCTGTTCCTCAGAA	0.577000													13	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	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								25	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_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)			22	4					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285651	130285651	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr3:130285651T>C	ENST00000358511.6	+	4	1419	c.1388T>C	c.(1387-1389)gTa>gCa	p.V463A	COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	463	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGAGGTGGTAGGGATGTTC	0.498000													4	51					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69085759	69085759	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:69085759G>C	ENST00000229179.4	+	5	647	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	105					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACTAATCTGGATGACAGTA	0.368000													5	70					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8341765	8341765	+	Silent	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:8341765C>T	ENST00000381196.4	-	37	5418	c.4875G>A	c.(4873-4875)ttG>ttA	p.L1625L	PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000397606.3_Silent_p.L1218L|PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L|PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000540109.1_Silent_p.L1625L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1625					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAGGCATACAAGTTTCTAG	0.403000										TSP Lung(15;0.13)			78	123					0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708674	131708674	+	Silent	SNP	A	A	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:131708674A>G	ENST00000372586.3	-	1	1224	c.909T>C	c.(907-909)taT>taC	p.Y303Y	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	303					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GCAGAGACCAATAGGCTAGGA	0.602000													20	146					0	0	1	0	0
SMARCD3	6604	broad.mit.edu	37	7	150945585	150945585	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr7:150945585G>C	ENST00000262188.8	-	1	474	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	22					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGACCAGAAACTCAAAA	0.647000													88	88					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63563595	63563595	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:63563595C>G	ENST00000374852.3	-	8	938	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	291	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTTCAATTCACAAACTAAG	0.383000													15	18					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39502820	39502820	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:39502820G>A	ENST00000007735.3	-	6	1021	c.977C>T	c.(976-978)gCg>gTg	p.A326V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	326	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCGGATCTCCGCCAGCTGGGA	0.627000													4	83					0	0	1	0	0
SLC25A5	292	broad.mit.edu	37	X	118603879	118603879	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527000													4	151					0	0	1	0	0
CACYBP	27101	broad.mit.edu	37	1	174973950	174973950	+	Splice_Site	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:174973950G>A	ENST00000406752.1	+	2	216	c.216G>A	c.(214-216)acG>acA	p.T72T	CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T|CACYBP_ENST00000367679.2_Silent_p.T72T			Q9HB71	CYBP_HUMAN	calcyclin binding protein	72	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CGGGCTATACGGTGAAAATCA	0.413000													17	64					0	0	1	0	0
UROD	7389	broad.mit.edu	37	1	45480412	45480412	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:45480412T>C	ENST00000246337.4	+	8	898	c.779T>C	c.(778-780)aTc>aCc	p.I260T	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	260			I -> T (in FPCT; decrease of activity).			cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCTAGATCATCTTTGCTAAG	0.522000									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	37					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350457	71350457	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:71350457G>A	ENST00000545866.1	-	1	1301	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	RGAG4_ENST00000609883.1_Missense_Mutation_p.R312C|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	312										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGGGAACGCGCACTTTTCTT	0.483000													15	148					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236175	106236175	+	RNA	SNP	G	G	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr14:106236175G>A	ENST00000390551.2	-	0	628																											CCTCCACGCCGTCCACGTACC	0.607000													90	153					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599148	31599148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:31599148C>T	ENST00000376033.2	+	16	2932	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.R900*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	900	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAAGCAGGCCGAAAGCCTGC	0.667000													5	23					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107938635	107938635	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:107938635T>C	ENST00000328300.6	+	52	5204	c.4960T>C	c.(4960-4962)Tgg>Cgg	p.W1654R	COL4A5_ENST00000361603.2_Missense_Mutation_p.W1648R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1648	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTACAGCTTTTGGCTGGCAAC	0.473000									Alport syndrome with Diffuse Leiomyomatosis				7	115					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102206	29102206	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr18:29102206C>A	ENST00000261590.8	+	6	893	c.684C>A	c.(682-684)gaC>gaA	p.D228E	DSG2_ENST00000585206.1_Missense_Mutation_p.D228E	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	228	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTACCTTGGACAGAGAGGTAA	0.348000													20	41					2.37509e-13	2.50704e-13	1	1	0
SCAF11	9169	broad.mit.edu	37	12	46320027	46320027	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:46320027T>C	ENST00000465950.1	-	1	3721	c.2512A>G	c.(2512-2514)Act>Gct	p.T838A	SCAF11_ENST00000369367.3_Missense_Mutation_p.T1153A|SCAF11_ENST00000549162.1_Missense_Mutation_p.T961A|SCAF11_ENST00000419565.2_Missense_Mutation_p.T1153A			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1153					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GCTGGCAAAGTCTTTCTCACG	0.458000													4	119					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444517	82444517	+	Silent	SNP	G	G	C			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:82444517G>C	ENST00000329203.3	-	1	389	c.255C>G	c.(253-255)ggC>ggG	p.G85G		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	85										large_intestine(1)|lung(2)|prostate(1)	4						GCTTCGACTTGCCCGGCTTGT	0.677000													3	7					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													6	10	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97877449	97877449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:97877449delA	ENST00000420699.2	+	58	3684	c.3440delA	c.(3439-3441)gaafs	p.E1147fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1147fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1147										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGGCCACGGAAAAAAAGGAT	0.333													2	4	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	RNA	DEL	C	C	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488													6	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939469	76939470	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:76939469_76939470delTC	ENST00000373344.5	-	9	1492_1493	c.1278_1279delGA	c.(1276-1281)gagaaafs	p.K427fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K389fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	427					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)	TTGGTATTTTTCTCTTTGTTTA	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						127	240	---	---	---	---					
