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
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	75					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366954	79366954	+	Silent	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:79366954C>T	ENST00000350881.2	+	13	1861	c.1671C>T	c.(1669-1671)acC>acT	p.T557T	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.T466T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	557					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAAAGACACCGATGGGGATG	0.418000													60	117					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127500647	127500647	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:127500647A>G	ENST00000434178.2	-	3	1113	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	MGLL_ENST00000453507.2_Missense_Mutation_p.F83L|MGLL_ENST00000398104.1_Missense_Mutation_p.F73L|MGLL_ENST00000265052.5_Missense_Mutation_p.F83L			Q99685	MGLL_HUMAN	monoglyceride lipase	73					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCGTGGGCGAACACCAGCAGG	0.607000													11	37					0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354496	23354496	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:23354496T>C	ENST00000267396.4	+	3	590	c.467T>C	c.(466-468)aTc>aCc	p.I156T	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	156					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GAGAGACGCATCATGGTGGAT	0.488000													12	62					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691151	88691151	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:88691151G>T	ENST00000301011.5	+	12	2240	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R704S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	680	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCCCCCAGGAGGTGAGCAC	0.662000													8	8					2.52707e-12	2.67147e-12	1	1	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													5	74					0	0	1	0	0
HPDL	84842	broad.mit.edu	37	1	45793570	45793570	+	Silent	SNP	G	G	A	rs150145508	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:45793570G>A	ENST00000334815.3	+	1	1026	c.750G>A	c.(748-750)cgG>cgA	p.R250R		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	250					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.R250R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCCCGGCACAAGGGGC	0.662000													4	102					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804276	152804276	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr6:152804276G>C	ENST00000367255.5	-	14	1895	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q422E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q432E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	432					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGACCTGTTGAACGGTTATT	0.483000										HNSCC(10;0.0054)			28	99					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8404029	8404029	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:8404029G>C	ENST00000471889.1	+	9	2588	c.2203G>C	c.(2203-2205)Gac>Cac	p.D735H	SLC45A1_ENST00000377479.2_Missense_Mutation_p.D769H|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D735H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	735					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCCAGCGACGCTGCAGA	0.632000													8	33					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239641	65239641	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:65239641C>T	ENST00000389722.3	-	25	5263	c.5210G>A	c.(5209-5211)cGg>cAg	p.R1737Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737Q|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCGGTCTCCCGGGCAAAGTC	0.627000													11	12					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661480	153661480	+	Silent	SNP	C	C	T	rs145546823		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:153661480C>T	ENST00000368680.3	+	16	2941	c.2469C>T	c.(2467-2469)taC>taT	p.Y823Y		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	823					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGAGCAGTACGCGAACAATC	0.622000													32	74					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	52					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10305040	10305040	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:10305040T>A	ENST00000403437.2	-	23	2845	c.2751A>T	c.(2749-2751)caA>caT	p.Q917H	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	917					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGCCTCAAGTTGGATTTTGT	0.428000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				7	163					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624320	123624320	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:123624320T>C	ENST00000327930.2	-	1	933	c.907A>G	c.(907-909)Atg>Gtg	p.M303V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGCAAGTCATTGCCTTTCTT	0.398000													55	126					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425802	179425802	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:179425802C>T	ENST00000589042.1	-	326	85281	c.85057G>A	c.(85057-85059)Gag>Aag	p.E28353K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26712K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19288K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19413K|TTN_ENST00000342992.6_Missense_Mutation_p.E25785K|TTN_ENST00000342175.6_Missense_Mutation_p.E19480K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26712	Fibronectin type-III 106.						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)			CTTGGAGGCTCAACATCATCT	0.443000													48	90					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129279278	129279278	+	Splice_Site	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:129279278C>T	ENST00000393239.1	-	31	5207		c.e31-1		PLXND1_ENST00000324093.4_Splice_Site			Q9Y4D7	PLXD1_HUMAN	plexin D1						axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGGCAGCACCTGGGAGGCCG	0.652000													4	14					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541954	55541954	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr8:55541954C>T	ENST00000220676.1	+	4	5660	c.5512C>T	c.(5512-5514)Cgc>Tgc	p.R1838C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1838					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGGATGTTCGCAATGAAAC	0.423000													17	25					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620426	10620426	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr20:10620426A>G	ENST00000254958.5	-	26	3892	c.3377T>C	c.(3376-3378)aTt>aCt	p.I1126T	JAG1_ENST00000423891.2_Missense_Mutation_p.I967T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1126					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTTTCTCAATGGGGTTTTT	0.512000									Alagille Syndrome				27	45					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152549245	152549245	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr7:152549245G>A	ENST00000256001.8	+	10	1120	c.986G>A	c.(985-987)aGg>aAg	p.R329K	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R241K|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R241K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	329					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACCATGTTCAGGGATTTCGGA	0.592000													22	48					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434512	31434512	+	Splice_Site	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:31434512G>A	ENST00000389202.2	+	24	2907	c.2859_splice	c.e24+1	p.R953_splice		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	953					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCGATACCGTGTGAGAGTC	0.512000													13	26					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094486	76094486	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:76094486C>G	ENST00000335749.4	+	18	5046	c.4477C>G	c.(4477-4479)Ctg>Gtg	p.L1493V	TNRC6C_ENST00000588847.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.L1457V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.L1493V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA 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)			GCAAGCCTCTCTGTCTCATGA	0.552000													9	23					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	46					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999004	29999004	+	Silent	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:29999004C>T	ENST00000308893.4	+	16	4454	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1024P|TAOK2_ENST00000416441.2_Silent_p.P964P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTAATCCCCGCACCACCC	0.657000													4	169					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4643959	4643959	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:4643959G>A	ENST00000433935.1	+	2	173	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ZMYND15_ENST00000573751.2_Missense_Mutation_p.R39H|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R39H|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R39H	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	39							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTTGAGGGCCGCTGCCGGCAG	0.607000													13	14					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63660945	63660945	+	Silent	SNP	G	G	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:63660945G>T	ENST00000409120.1	-	3	3733	c.183C>A	c.(181-183)gcC>gcA	p.A61A	WDPCP_ENST00000409562.3_Silent_p.A253A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Silent_p.A61A|WDPCP_ENST00000398544.3_Silent_p.A94A|WDPCP_ENST00000272321.7_Silent_p.A253A			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	253					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAGAAATGGGGGCCCAAGGCC	0.423000													17	33					5.3912e-06	5.54096e-06	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115814379	115814379	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:115814379G>A	ENST00000343348.6	-	13	2073	c.1286C>T	c.(1285-1287)gCt>gTt	p.A429V	SEMA6A_ENST00000257414.8_Missense_Mutation_p.A429V|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A429V|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	429	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATATGGCCCAGCAGCTGTGTC	0.408000													4	34					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798095	21798095	+	Silent	SNP	A	A	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:21798095A>G	ENST00000318220.6	+	8	1360	c.312A>G	c.(310-312)cgA>cgG	p.R104R	NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000318249.5_Silent_p.R160R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGGAACGAGAGCTGACCC	0.473000													4	199					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	8					0.004672	0.004672	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	41					0	0	1	0	0
STEAP2-AS1	0	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs138239781	by1000genomes	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA																							GGTGCGGGCCTCCCCCTTCCCC	0.639													4	5	---	---	---	---					
OMP	4975	broad.mit.edu	37	11	76814332	76814351	+	Frame_Shift_Del	DEL	GGAGCCCGCCAACCTCAAGG	GGAGCCCGCCAACCTCAAGG	-			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:76814332_76814351delGGAGCCCGCCAACCTCAAGG	ENST00000529803.1	+	1	447_466	c.447_466delGGAGCCCGCCAACCTCAAGG	c.(445-468)gtccfs	p.VEPANLKA149fs	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	149					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGAGGGTGTGGAGCCCGCCAACCTCAAGGCCTCCGTGGT	0.614													12	58	---	---	---	---					
CCDC144B	0	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs72195768		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243													4	3	---	---	---	---					
SMARCA1	6594	broad.mit.edu	37	X	128624063	128624064	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chrX:128624063_128624064insT	ENST00000371122.4	-	15	2050_2051	c.1921_1922insA	c.(1921-1923)actfs	p.T641fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T629fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T629fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	641	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAATCGAGTCTCAGTTTTATC	0.342													25	12	---	---	---	---