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
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871040A>G	uc003qxu.3	+	2	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_uc011ehf.2_Silent_p.Q52Q|TBP_uc003qxt.3_Silent_p.Q72Q|TBP_uc011ehg.1_Silent_p.Q72Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(6)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567000													5	95					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228468	21228468	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:21228468C>A	uc002red.3	-	25	11400	c.11272G>T	c.(11272-11274)Gtt>Ttt	p.V3758F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACGATGGAACCTGAAGATCT	0.388000													28	138					2.4375e-19	2.90178e-19	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													4	175					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756325	75756325	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:75756325G>A	uc003yal.3	+	2	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.R128H	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	128						extracellular region	peptidase inhibitor activity	p.R128H(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408000													14	149					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583285	82583285	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:82583285G>A	uc003uhx.2	-	4	7273	c.6984C>T	c.(6982-6984)gcC>gcT	p.A2328A	PCLO_uc003uhv.2_Silent_p.A2328A|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2259	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2328A(3)|p.E2327D(1)|p.A2259A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTCGTTCGGCCTCCAACT	0.413000													22	135					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:39274415C>T	uc002hvz.3	-	0	192	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(12)|p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	108					0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	G	A	rs114681793	by1000genomes	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000													4	52					0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76074431	76074431	+	Missense_Mutation	SNP	C	C	T	rs149323153	by1000genomes	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:76074431C>T	uc010umm.1	+	7	610	c.533C>T	c.(532-534)tCg>tTg	p.S178L	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;									p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													4	23					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6013017	6013017	+	Silent	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:6013017C>T	uc002meb.3	-	7	1148	c.879G>A	c.(877-879)caG>caA	p.Q293Q	RFX2_uc002mec.3_Silent_p.Q268Q	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTGCATGGGCTGCTGCCGCA	0.612000													34	160					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61891032	61891032	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:61891032G>A	uc002eog.2	-	3	1613	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTGTTTCAGGCTCAATGGAA	0.393000													28	45					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871046	170871046	+	Silent	SNP	A	A	G	rs10592951		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871046A>G	uc003qxu.3	+	2	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_uc011ehf.2_Silent_p.Q54Q|TBP_uc003qxt.3_Silent_p.Q74Q|TBP_uc011ehg.1_Silent_p.Q74Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567000													6	90					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421497	100421497	+	Silent	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:100421497C>A	uc003uwn.1	-	2	671	c.180G>T	c.(178-180)gtG>gtT	p.V60V	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Silent_p.V60V|EPHB4_uc011kkf.1_Silent_p.V60V|EPHB4_uc011kkg.1_Silent_p.V60V|EPHB4_uc011kkh.1_Silent_p.V60V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	60					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGTCACACACTTCGTAGG	0.682000													10	34					2.17888e-05	2.31795e-05	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153244137	153244137	+	Missense_Mutation	SNP	G	G	A	rs140856583	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:153244137G>A	uc003ims.3	-	11	2182	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	FBXW7_uc011cii.2_Missense_Mutation_p.R674W|FBXW7_uc003imt.3_Missense_Mutation_p.R674W|FBXW7_uc011cih.2_Missense_Mutation_p.R498W|FBXW7_uc003imq.3_Missense_Mutation_p.R594W|FBXW7_uc003imr.3_Missense_Mutation_p.R556W	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	674					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R674R(1)|p.?(1)|p.R674Q(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTCTGATCCGCCACACAACT	0.493000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								49	109					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736512	73736512	+	Silent	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:73736512C>T	uc002jpg.3	+	20	2707	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	ITGB4_uc002jph.3_Silent_p.C840C|ITGB4_uc010dgo.3_Silent_p.C840C|ITGB4_uc002jpi.4_Silent_p.C840C|ITGB4_uc010dgp.1_Silent_p.C840C|ITGB4_uc002jpj.3_Silent_p.C840C	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	840					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGGAGTGCGCCCAGCTGC	0.662000													4	66					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192522	133192522	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:133192522T>C	uc003ytj.3	-	3	884	c.659A>G	c.(658-660)aAt>aGt	p.N220S	KCNQ3_uc003yti.3_Missense_Mutation_p.N100S|KCNQ3_uc010mdt.3_Missense_Mutation_p.N220S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	220					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCCAGAACATTGCCTTGGTT	0.597000													11	123					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95914959	95914959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr12:95914959G>A	uc001teg.3	-	4	1897	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	USP44_uc001teh.3_Nonsense_Mutation_p.R585*|USP44_uc009zte.3_Nonsense_Mutation_p.R582*	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	585					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCTTCTCTCGGTTATTACGT	0.423000													18	55					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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								5	40					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000													5	31					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2834097	2834097	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2834097T>A	uc003gfi.4	+	10	1566	c.1446T>A	c.(1444-1446)gaT>gaA	p.D482E	SH3BP2_uc011bvp.2_Missense_Mutation_p.D510E|SH3BP2_uc003gfj.4_Missense_Mutation_p.D539E|SH3BP2_uc003gfk.4_Missense_Mutation_p.D482E|SH3BP2_uc003gfl.4_Missense_Mutation_p.D415E|SH3BP2_uc003gfm.4_Missense_Mutation_p.D457E	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	482	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCCCCAGGATGGACTCTACT	0.592000									Cherubism				7	178					0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003704	57003704	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:57003704G>T	uc001njo.3	-	0	1224	c.775C>A	c.(775-777)Ctg>Atg	p.L259M	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	259						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAGCACAGGGCAAAGGTC	0.612000													7	66					2.0095e-06	2.18424e-06	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65408860	65408860	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:65408860G>A	uc001ofb.2	+	1	635	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SIPA1_uc010rom.1_Silent_p.S156S|SIPA1_uc001ofd.2_Silent_p.S156S	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	156					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCCAGCTCGGACCTGCTGC	0.667000													33	83					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282080	152282080	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:152282080C>T	uc001ezu.1	-	2	5318	c.5282G>A	c.(5281-5283)cGt>cAt	p.R1761H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.602000									Ichthyosis				36	394					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71443880	71443880	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr14:71443880A>T	uc001xmo.2	+	5	1272	c.826A>T	c.(826-828)Aaa>Taa	p.K276*	PCNX_uc001xmn.4_Nonsense_Mutation_p.K276*|PCNX_uc010are.1_Nonsense_Mutation_p.K276*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	276						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCTTATAGAAAAGACCACCG	0.493000													19	55					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:155161799T>G	uc021pap.1	-	1	433	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.T112P|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.T121P|MUC1_uc001fiw.2_Missense_Mutation_p.T112P|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL								11	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			44	14					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136013	55136013	+	Silent	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:55136013C>A	uc010rif.2	+	0	654	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T218N(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTTGCACCAATACCTATG	0.413000													4	84					1	1	1	1	0
CDH4	1002	broad.mit.edu	37	20	60503304	60503304	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr20:60503304G>A	uc002ybn.2	+	11	1916	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	CDH4_uc002ybr.2_Missense_Mutation_p.D573N|CDH4_uc002ybp.2_Missense_Mutation_p.D536N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	610	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACATCAACGACAACGCCCC	0.622000													10	286					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72040864	72040864	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:72040864G>A	uc002atb.1	+	12	2425	c.2346G>A	c.(2344-2346)ccG>ccA	p.P782P	THSD4_uc002ate.2_Silent_p.P422P	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	782	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTCCGGCCGAATGACATTG	0.597000													12	49					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27325300	27325300	+	Splice_Site	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:27325300T>C	uc010eyr.2	-	3	518	c.513_splice	c.e3-1	p.G171_splice	CGREF1_uc010ylf.2_Splice_Site|CGREF1_uc021vez.1_Splice_Site_p.G49_splice|CGREF1_uc002riq.3_Splice_Site_p.G49_splice|CGREF1_uc021vfa.1_Splice_Site_p.G49_splice|CGREF1_uc010eys.2_Splice_Site_p.G49_splice|CGREF1_uc002rir.2_Splice_Site_p.G49_splice	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	49					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGAAGTCTGTCAGAAAAG	0.617000													4	55					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2073954	2073954	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2073954G>A	uc003ger.2	-	23	2602	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S	POLN_uc010icg.1_Missense_Mutation_p.P303S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	864					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.G863C(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGGCGGAGGGCCCCAGGCC	0.692000								DNA polymerases (catalytic subunits)					8	64					0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90160999	90160999	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:90160999C>T	uc002fqq.3	+	2	229	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		GGACTCCGTGCGCTCGGGGCC	0.687000													19	116					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343709	248343709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:248343709G>T	uc010pzf.2	+	0	422	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTAAAATTTGTGGACTTATG	0.423000													12	283					2.27111e-07	2.52346e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179430063	179430063	+	Silent	SNP	A	A	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:179430063A>T	uc021vsy.1	-	274	73317	c.73092T>A	c.(73090-73092)gcT>gcA	p.A24364A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A18059A|TTN_uc021vta.1_Silent_p.A17992A|TTN_uc021vtb.1_Silent_p.A17867A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25291	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGAGGTAGCTGTTTCTT	0.398000													4	127					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310051	56310051	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:56310051T>C	uc010rjl.2	-	0	683	c.683A>G	c.(682-684)aAa>aGa	p.K228R	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTCTGCTGATTTGATCCGGAG	0.498000													28	62					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	21					0.115264	0.117616	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:186276640A>C	uc001gru.4	+	6	1840	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T556P|PRG4_uc009wyl.3_Missense_Mutation_p.T504P|PRG4_uc009wym.3_Missense_Mutation_p.T463P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652000													8	146					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94480119	94480119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480119C>A	uc001dqh.3	-	37	5544	c.5440G>T	c.(5440-5442)Gaa>Taa	p.E1814*	ABCA4_uc009wdp.1_Nonsense_Mutation_p.E82*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1814					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAATAATTCCAAGATGAAG	0.438000													32	169					6.00712e-18	6.82628e-18	1	1	0
ABCA4	24	broad.mit.edu	37	1	94480120	94480120	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480120C>A	uc001dqh.3	-	37	5543	c.5439G>T	c.(5437-5439)ttG>ttT	p.L1813F	ABCA4_uc009wdp.1_Missense_Mutation_p.L81F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438000													32	172					6.00712e-18	6.82628e-18	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18829917	18829917	+	Silent	SNP	G	G	A			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:18829917G>A	uc003zne.4	+	22	4343	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	ADAMTSL1_uc003znf.4_Silent_p.V98V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1397	Ig-like C2-type 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCTTCAGTGCTGACGTCTC	0.572000													6	46					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													8	8	---	---	---	---					
LRIT2	340745	broad.mit.edu	37	10	85984831	85984832	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr10:85984831_85984832insG	uc010qmc.2	-	1	157_158	c.149_150insC	c.(148-150)cctfs	p.P50fs	LRIT2_uc001kcy.3_Frame_Shift_Ins_p.P50fs	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAAGGTTCCCAGGGATCTTTCC	0.455													18	76	---	---	---	---					
ARRDC4	91947	broad.mit.edu	37	15	98504133	98504133	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:98504133delG	uc010bom.3	+	0	201	c.42delG	c.(40-42)gagfs	p.E14fs	ARRDC4_uc002bui.4_Intron	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	14					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGGTGCCGAGGGCCGCGTGA	0.741													2	4	---	---	---	---					
TNRC6C	57690	broad.mit.edu	37	17	76047335	76047335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:76047335delG	uc002jud.2	+	3	2792	c.2192delG	c.(2191-2193)tggfs	p.W731fs	TNRC6C_uc002juf.2_Frame_Shift_Del_p.W731fs|TNRC6C_uc002jue.2_Frame_Shift_Del_p.W731fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	731	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCAGCTTGGGGGGACCCA	0.507													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939387	76939387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chrX:76939387delT	uc004ecp.4	-	8	1593	c.1361delA	c.(1360-1362)aagfs	p.K454fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K416fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K239fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K415fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K454fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K399fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	454					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	AATATCCTTCTTTTCCAAAGC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						97	98	---	---	---	---					
