docm-8-15-14.tsv

chromosome_name	start	stop	reference	variant	type	primary	DOID	disease	pubmed_id	source	source2	url	Description	Effect	Pathway	Association_1	Therapeutic_context_1	Status_1	Evidence_1	PMID_1	Association_2	Therapeutic_context_2	Status_2	Evidence_2	PMID_2	Association_3	Therapeutic_context_3	Status_3	Evidence_3	PMID_3	Association_4	Therapeutic_context_4	Status_4	Evidence_4	PMID_4	Association_5	Therapeutic_context_5	Status_5	Evidence_5	PMID_5	Association_6	Therapeutic_context_6	Status_6	Evidence_6	PMID_6	Jason_Kunisaki_Dientsmann	Reason	Note	Gene	Mutation	gene_name	transcript_name	transcript_species	transcript_source	transcript_version	strand	transcript_status	trv_type	c_position	amino_acid_change	ucsc_cons	domain	all_domains	deletion_substructures	transcript_error	default_gene_name	gene_name_source	ensembl_gene_id
1	11169361	11169361	C	G	SNP	1	DOID:4451	Renal	24631838				missense mutation	gain-of-function	activation	sensitivity	rapamycin	preclinical	emerging	24631838																														MTOR	MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.7514	p.R2505P	1.000	pfscan_PI3/4_kinase_cat_dom	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	11174420	11174420	C	T	SNP	1	DOID:4006	Urothelial	24625776				missense mutation	gain-of-function	activation	sensitivity	everolimus	case report	emerging	24625776																															MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.7255	p.E2419K	1.000	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	11182179	11182179	G	T	SNP	1	DOID:4451	Renal	24622468				missense mutation	gain-of-function	activation	response	everolimus	case report	emerging	24622468																														MTOR	MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.6667	p.Q2223K	1.000	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	11184573	11184573	G	T	SNP	1	DOID:4451	Renal	24631838				missense mutation	gain-of-function	activation	sensitivity	rapamycin	preclinical	emerging	24631838																														MTOR	MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.6644	p.S2215Y	1.000	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	11187857	11187857	C	T	SNP	1	DOID:4006	Urothelial	24625776				missense mutation	gain-of-function	activation	sensitivity	everolimus	case report	emerging	24625776																															MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.6040	p.E2014K	1.000	NULL	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	11217299	11217299	A	G	SNP	1	DOID:4451	renal	24631838				missense mutation	gain-of-function	activation	sensitivity	rapamycin	preclinical	emerging	24631838																														MTOR	MTOR	ENST00000361445	human	ensembl	74_37	-1	known	missense	c.4379	p.L1460P	0.954	superfamily_ARM-type_fold,pfscan_PIK_FAT	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	-	no_errors	MTOR	HGNC	ENSG00000198793
1	16464489	16464489	C	G	SNP	1	DOID:3907	Lung_squamous	20360610				missense mutation	gain-of-function	activation	sensitivity	mTOR inhibitors, dasatinib	preclinical	emerging	20360610																														EPHA2	EPHA2	ENST00000358432	human	ensembl	74_37	-1	known	missense	c.1171	p.G391R	0.022	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	-	no_errors	EPHA2	HGNC	ENSG00000142627
1	16464489	16464489	C	T	SNP	1	DOID:3907	Lung_squamous	20360610				missense mutation	gain-of-function	activation	sensitivity	mTOR inhibitors, dasatinib	preclinical	emerging	20360610																														EPHA2	EPHA2	ENST00000358432	human	ensembl	74_37	-1	known	missense	c.1171	p.G391R	0.022	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	-	no_errors	EPHA2	HGNC	ENSG00000142627
1	36933434	36933434	G	A	SNP	1	DOID:9119	AML	23634996		TimLey																																								CSF3R	ENST00000373103	human	ensembl	74_37	-1	known	missense	c.1853	p.T618I	0.998	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	-	no_errors	CSF3R	HGNC	ENSG00000119535
1	36933434	36933434	G	A	SNP	1	DOID:8552	Atypical CML, CNL	23656643				missense mutation	gain-of-function	activation	response	ruxolitinib	case report	emerging	23656643																														CSF3R	CSF3R	ENST00000373103	human	ensembl	74_37	-1	known	missense	c.1853	p.T618I	0.998	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	-	no_errors	CSF3R	HGNC	ENSG00000119535
1	36933444	36933444	T	C	SNP	1	DOID:8552	Atypical CML, CNL	23656643				missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	23656643																														CSF3R	CSF3R	ENST00000373103	human	ensembl	74_37	-1	known	missense	c.1843	p.T615A	1.000	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	-	no_errors	CSF3R	HGNC	ENSG00000119535
1	43815009	43815009	G	T	SNP	1	DOID:2531	MPN	16834459				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	16834459																														MPL	MPL	ENST00000372470	human	ensembl	74_37	+1	known	missense	c.1544	p.W515L	1.000	NULL	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	-	no_errors	MPL	HGNC	ENSG00000117400
1	65312382	65312382	G	A	SNP	1	DOID:1037	ALL	22955920				missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	22955920																														JAK1	JAK1	ENST00000342505	human	ensembl	74_37	-1	known	missense	c.1937	p.S646F	1.000	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	-	no_errors	JAK1	HGNC	ENSG00000162434
1	115256528	115256528	T	A	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256528	T	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/81	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256528	T	G	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256528	T	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/80	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256528	T	G	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/80																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256529	TT	CA	DNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/83	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183_182	p.Q61L	1.000:1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256528	115256529	TT	CC	DNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/82	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.183_182	p.Q61R	1.000:1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/76	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61L	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	A	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/76																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61L	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	C	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	C	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/77																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	C	SNP	1	DOID:1909	Melanoma	21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/77	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	C	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/77																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	C	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/nras/77																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/98	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61P	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256529	115256529	T	G	SNP	1	DOID:3908	NSCLC	24370118,23515407																																										NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.182	p.Q61P	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	A	SNP	1	DOID:3908	NSCLC	23515407																																										NRAS	ENST00000369535	human	ensembl	74_37	-1	known	nonsense	c.181	p.Q61*	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	C	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/97	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61E	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	T	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	T	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/75																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	T	SNP	1	DOID:1909	Melanoma	21107323,8120410,16291983,2674680,20130576,20179705,23414587,18390968,23414587,18390968,22761467,23538902,23569304,23614898	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/75	missense mutation	gain-of-function	activation	response	MEK inhibitors	late trials	emerging	23414587	response	MEK inhibitors	early trials	emerging	18390968, 22761467	response	MEK inhibitors + CDK4/6 inhibitors	early trials	emerging	ASCO 2014; abstr 9009	sensitivity	HSP90 inhibitors	preclinical	emerging	23538902	resistance	BRAF inhibitors	case report	emerging	23569304	sensitivity	ERK inhibitors	preclinical	emerging	23614898						NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	T	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/75																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115256530	115256530	G	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/nras/75																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258744	115258744	C	A	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.38	p.G13V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258744	115258744	C	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/94																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.38	p.G13V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258744	115258744	C	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/91																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.38	p.G13A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258744	115258744	C	T	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258744	115258744	C	T	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/92																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258745	115258745	C	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/297																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.37	p.G13C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258745	115258745	C	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/93																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.37	p.G13R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	A	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	A	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/90																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/90																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	G	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/85																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/85																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	G	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/85																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	T	SNP	1	DOID:9119	AML	19657110,22407852,19075190,16434492,2278970,3122217		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	T	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/87																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	T	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/87																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258747	115258747	C	T	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/87																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	A	SNP	1	DOID:9119	AML	19657110,22407852,19075190,16434492,2278970,3122217		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	A	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/86																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	A	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/86																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	A	SNP	1	DOID:1909	melanoma	23614898				missense mutation	gain-of-function	activation	sensitivity	ERK inhibitors	preclinical	emerging	23614898																															NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	A	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/86																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	G	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/88																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	G	SNP	1	DOID:3908	NSCLC	12460918,18948947,23515407	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/nras/88																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	T	SNP	1	DOID:9119	AML	19657110		TimLey																																								NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	T	SNP	1	DOID:9256	CC	20619739,20736745,21829508,21305640,21729679,17699718,16273091	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/nras/89																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	T	SNP	1	DOID:1909	Melanoma	8120410,16291983,2674680,20130576,20179705,23414587,18390968	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/nras/89																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	115258748	115258748	C	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/41																																							NRAS	ENST00000369535	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	NRAS	HGNC	ENSG00000213281
1	162724415	162724415	C	G	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																														DDR2	DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.187	p.L63V	1.000	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162729630	162729630	T	G	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																														DDR2	DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.716	p.L239R	1.000	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162729671	162729671	G	T	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																														DDR2	DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.757	p.G253C	0.999	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162741822	162741822	G	A	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																														DDR2	DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.1513	p.G505S	0.701	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162745497	162745497	A	T	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																															DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.1912	p.I638F	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162748390	162748390	T	A	SNP	1	DOID:1749	SQCC	23932362,18938156,22328973	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/ddr2/78	missense mutation	gain-of-function	activation	response	dasatinib + erlotinib	case report	emerging	22328973	sensitivity	dasatinib	preclinical	emerging	22328973																										DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.2304	p.S768R	0.996	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
1	162748407	162748407	G	T	SNP	1	DOID:3907	Lung_squamous	22328973				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	22328973																														DDR2	DDR2	ENST00000367921	human	ensembl	74_37	+1	known	missense	c.2321	p.G774V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	DDR2	HGNC	ENSG00000162733
2	25457242	25457242	C	A	SNP	1	DOID:9119	AML	22160010,22898540	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/296																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2645	p.R882L	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	25457242	25457242	C	G	SNP	1	DOID:9119	AML	21067377,22160010,22898541	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/294																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2645	p.R882P	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	25457242	25457242	C	T	SNP	1	DOID:9119	AML	21067377,22160010,22898539,24656771,24606448,22744846,21518476	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/293																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2645	p.R882H	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	25457243	25457243	G	A	SNP	1	DOID:9119	AML	21067377,22160010,22898539,24606448,22744846,21518476	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/291																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2644	p.R882C	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	25457243	25457243	G	C	SNP	1	DOID:9119	AML	22160010,22898539	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/295																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2644	p.R882G	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	25457243	25457243	G	T	SNP	1	DOID:9119	AML	21067377,22160010,22898540,22744846 ,21518476	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/dnmt3a/292																																							DNMT3A	ENST00000264709	human	ensembl	74_37	-1	known	missense	c.2644	p.R882S	1.000	NULL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	-	no_errors	DNMT3A	HGNC	ENSG00000119772
2	29432655	29432655	T	G	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/184																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3833	p.Y1278S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29432664	29432664	C	T	SNP	1	DOID:1319	Brain	22072639				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	22072639																														ALK	ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3824	p.R1275Q	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29432664	29432664	C	T	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/183																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3824	p.R1275Q	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29432682	29432682	C	G	SNP	1	DOID:3910	lung_adeno	22277784,24670165				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784	response	ceritinib	FDA-approved	consensus	24670165																										ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3806	p.G1269A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29436858	29436858	G	C	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/181																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3735	p.F1245L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29436859	29436859	A	C	SNP	1	DOID:769	Neuroblastoma	21838707,22072639	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/180	missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	22072639																															ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3734	p.F1245C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29436860	29436860	A	C	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/182																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3733	p.F1245V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29436920	29436920	C	T	SNP	1	DOID:3247	Rhabdomyosarcoma	22184391	MyCancerGenome		http://www.mycancergenome.org/content/disease/rhabdomyosarcoma/alk/187																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3673	p.D1225N	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443600	29443600	G	T	SNP	1	DOID:3910	Lung_Adeno	22277784,24670165				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784	response	ceritinib	FDA-approved	consensus	24670165																										ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3617	p.S1206Y	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443613	29443613	C	T	SNP	1	DOID:3910	lung_adeno	22277784				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784																															ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3604	p.G1202R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443631	29443631	G	T	SNP	1	DOID:3910	Lung_adeno	22277784,24670165,24327273				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784	response	ceritinib	FDA-approved	consensus	24670165, 24327273																									ALK	ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3586	p.L1196M	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443642	29443642	C	G	SNP	1	DOID:1319	Brain	22072639				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	22072639																														ALK	ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3575	p.R1192P	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443695	29443695	G	C	SNP	1	DOID:3910	Lung_adeno	22277784,24327273				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784	response	novel ALK inhibiors	preclinical	emerging	24327273																										ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3522	p.F1174L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443695	29443695	G	T	SNP	1	DOID:3910	Lung_adeno	22277784,24327273				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784	response	novel ALK inhibiors	preclinical	emerging	24327273																										ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3522	p.F1174L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443695	29443695	G	T	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/178	missense mutation	gain-of-function	activation	reduced sensitivity	crizotinib	preclinical	emerging	22072639																															ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3522	p.F1174L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443696	29443696	A	C	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/176																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3521	p.F1174C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443697	29443697	A	C	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/179																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3520	p.F1174V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29443697	29443697	A	T	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/177																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3520	p.F1174I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29445213	29445213	A	T	SNP	1	DOID:769	Neuroblastoma	21838707,22072639	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/175	missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	22072639																															ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3512	p.I1171N	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29445270	29445270	A	C	SNP	1	DOID:3910	Lung_adeno	22277784				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	22277784																														ALK	ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3455	p.L1152R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29445273	29445273	G	A	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/174																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3452	p.T1151M	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29445450	29445450	C	G	SNP	1	DOID:1319	Brain	22072639				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	22072639																															ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3383	p.G1128A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	29446296	29446296	C	T	SNP	1	DOID:769	Neuroblastoma	22072639,21838707	MyCancerGenome		http://www.mycancergenome.org/content/disease/neuroblastoma/alk/173																																							ALK	ENST00000389048	human	ensembl	74_37	-1	known	missense	c.3271	p.D1091N	1.000	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ALK	HGNC	ENSG00000171094
2	198266832	198266832	T	A	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2100	p.K700N	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266832	198266832	T	G	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2100	p.K700N	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266833	198266833	T	A	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2099	p.K700I	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266833	198266833	T	C	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2099	p.K700R	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266833	198266833	T	G	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2099	p.K700T	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266834	198266834	T	A	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	nonsense	c.2098	p.K700*	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266834	198266834	T	C	SNP	1	DOID:9119	AML	23395771		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2098	p.K700E	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198266834	198266834	T	G	SNP	1	DOID:9119	AML	23395771																																										SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.2098	p.K700Q	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198267359	198267359	C	A	SNP	1	DOID:9119	AML	23395771		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.1998	p.K666N	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198267359	198267359	C	G	SNP	1	DOID:9119	AML	23395771		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.1998	p.K666N	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198267360	198267360	T	C	SNP	1	DOID:9119	AML	23634996		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.1997	p.K666R	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198267360	198267360	T	G	SNP	1	DOID:9119	AML	23634996		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.1997	p.K666T	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	198267361	198267361	T	C	SNP	1	DOID:9119	AML	23634996		TimLey																																								SF3B1	ENST00000335508	human	ensembl	74_37	-1	known	missense	c.1996	p.K666E	1.000	superfamily_ARM-type_fold	pfam_SF3b_su1,superfamily_ARM-type_fold	-	no_errors	SF3B1	HGNC	ENSG00000115524
2	209113112	209113112	C	A	SNP	1	DOID:9119	AML	22160010,22898539,22417203,22397365	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/264																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.395	p.R132L	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113112	209113112	C	G	SNP	1	DOID:9119	AML	22160010,22898539,22417203	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/265																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.395	p.R132P	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113112	209113112	C	T	SNP	1	DOID:9119	AML	19657110,22160010,22898539,22417203,24606448,22397365	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/263																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.395	p.R132H	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113112	209113112	C	T	SNP	1	DOID:1319	Brain	23558169				missense mutation	switch-of-function	activation	sensitivity	IDH inhibitors	preclinical	emerging	23558169																														IDH1	IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.395	p.R132H	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113113	209113113	G	A	SNP	1	DOID:9119	AML	19657110,22160010,22898539,22417203,22397365,20946881	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/260																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.394	p.R132C	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113113	209113113	G	C	SNP	1	DOID:9119	AML	22160010,22898539,22417203,22397365,20946881	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/261																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.394	p.R132G	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	209113113	209113113	G	T	SNP	1	DOID:9119	AML	19657110,22160010,22898539,22417203	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh1/262																																							IDH1	ENST00000345146	human	ensembl	74_37	-1	known	missense	c.394	p.R132S	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH1	HGNC	ENSG00000138413
2	212295699	212295699	C	T	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																															ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.2614	p.E872K	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
2	212537975	212537975	G	A	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																														ERBB4	ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.1630	p.R544W	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
2	212537981	212537981	C	T	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																															ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.1624	p.E542K	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
2	212566827	212566827	C	T	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																															ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.1354	p.E452K	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
2	212570064	212570064	G	A	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																														ERBB4	ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.1177	p.R393W	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
2	212578308	212578308	C	T	SNP	1	DOID:1909	Melanoma	19718025				missense mutation	gain-of-function	activation	sensitivity	lapatinib	preclinical	emerging	19718025																															ERBB4	ENST00000342788	human	ensembl	74_37	-1	known	missense	c.949	p.E317K	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB4	HGNC	ENSG00000178568
3	12641195	12641195	C	G	SNP	1	DOID:1909	Melanoma	23737487				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors in BRAF mutant tumors	preclinical	emerging	23737487																														RAF1	RAF1	ENST00000442415	human	ensembl	74_37	-1	known	missense	c.1163	p.W388S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	RAF1	HGNC	ENSG00000132155
3	12645700	12645700	A	G	SNP	1	DOID:1909	Melanoma	23737487				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors in BRAF mutant tumors	preclinical	emerging	23737487																														RAF1	RAF1	ENST00000442415	human	ensembl	74_37	-1	known	missense	c.769	p.S257P	1.000	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	RAF1	HGNC	ENSG00000132155
3	38182641	38182641	T	C	SNP	1	DOID:0060058	Lymphoma	21179087				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	21179087																														MYD88	MYD88	ENST00000417037	human	ensembl	74_37	+1	known	missense	c.818	p.L273P	1.000	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom	pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom	-	no_errors	MYD88	HGNC	ENSG00000172936
3	41266113	41266113	C	A	SNP	1	DOID:1909	Melanoma	11950921,11351304,11930117,12124804,10027390,9065403,15133491	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/ctnnb1/105																																							CTNNB1	ENST00000349496	human	ensembl	74_37	+1	known	missense	c.110	p.S37Y	1.000	NULL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	-	no_errors	CTNNB1	HGNC	ENSG00000168036
3	41266113	41266113	C	T	SNP	1	DOID:1909	Melanoma	11950921,11351304,11930117,12124804,10027390,9065403,15133491	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/ctnnb1/104																																							CTNNB1	ENST00000349496	human	ensembl	74_37	+1	known	missense	c.110	p.S37F	1.000	NULL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	-	no_errors	CTNNB1	HGNC	ENSG00000168036
3	41266136	41266136	T	C	SNP	1	DOID:1909	Melanoma	11950921,11351304,11930117,12124804,10027390,9065403,15133491	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/ctnnb1/107																																							CTNNB1	ENST00000349496	human	ensembl	74_37	+1	known	missense	c.133	p.S45P	1.000	NULL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	-	no_errors	CTNNB1	HGNC	ENSG00000168036
3	41266137	41266137	C	A	SNP	1	DOID:1909	Melanoma	11950921,11351304,11930117,12124804,10027390,9065403,15133491	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/ctnnb1/108																																							CTNNB1	ENST00000349496	human	ensembl	74_37	+1	known	missense	c.134	p.S45Y	1.000	NULL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	-	no_errors	CTNNB1	HGNC	ENSG00000168036
3	41266137	41266137	C	T	SNP	1	DOID:1909	Melanoma	11950921,11351304,11930117,12124804,10027390,9065403,15133491	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/ctnnb1/106																																							CTNNB1	ENST00000349496	human	ensembl	74_37	+1	known	missense	c.134	p.S45F	1.000	NULL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	-	no_errors	CTNNB1	HGNC	ENSG00000168036
3	128200113	128200113	G	A	SNP	1	DOID:9119	AML	22147895,21765025		TimLey																																								GATA2	ENST00000341105	human	ensembl	74_37	-1	known	missense	c.1192	p.R398W	1.000	pirsf_TF_GATA-1/2/3	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	-	no_errors	GATA2	HGNC	ENSG00000179348
3	128200744	128200744	G	A	SNP	1	DOID:9119	AML	22147895,21765025		TimLey																																								GATA2	ENST00000341105	human	ensembl	74_37	-1	known	missense	c.1061	p.T354M	1.000	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	-	no_errors	GATA2	HGNC	ENSG00000179348
3	178936082	178936082	G	A	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/7																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1624	p.E542K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936082	178936082	G	A	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/7																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1624	p.E542K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936082	178936082	G	A	SNP	1	DOID:3908	NSCLC	16930767,15016963,15647370,15254419,20453058,18725974,22162589,19513541,19029981,16906227,21430269	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pik3ca/7																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1624	p.E542K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936082	178936082	G	A	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/7																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1624	p.E542K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	A	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/8																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	A	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/8																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	A	SNP	1	DOID:3908	NSCLC	16930767,15016963,15647370,15254419,20453058,18725974,22162589,19513541,19029981,16906227,21430269	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pik3ca/8																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	A	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/8																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	C	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/9																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545Q	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	C	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/9																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545Q	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936091	178936091	G	C	SNP	1	DOID:3908	NSCLC	16930767,15016963,15647370,15254419,20453058,18725974,22162589,19513541,19029981,16906227,21430269	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pik3ca/9																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1633	p.E545Q	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	C	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/12																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545A	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	C	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/12																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545A	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	C	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/12																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545A	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	G	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/13																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545G	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	G	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/13																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545G	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	T	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/14																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545V	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936092	178936092	A	T	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/14																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1634	p.E545V	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936094	178936094	C	A	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/16																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1636	p.Q546K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936094	178936094	C	A	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/16																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1636	p.Q546K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936094	178936094	C	A	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/16																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1636	p.Q546K	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936094	178936094	C	G	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/15																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1636	p.Q546E	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936094	178936094	C	G	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/15																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1636	p.Q546E	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936095	178936095	A	C	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/18																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1637	p.Q546P	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936095	178936095	A	C	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/18																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1637	p.Q546P	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936095	178936095	A	G	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/19																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1637	p.Q546R	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936095	178936095	A	G	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/19																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1637	p.Q546R	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936095	178936095	A	T	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/17																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1637	p.Q546L	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936103	178936103	G	A	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/20																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1645	p.D549N	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178936103	178936103	G	A	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/20																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.1645	p.D549N	1.000	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	G	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/11																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047R	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	G	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/10																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047R	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	G	SNP	1	DOID:3908	NSCLC	16930767,15016963,15647370,15254419,20453058,18725974,22162589,19513541,19029981,16906227,21430269	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pik3ca/11																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047R	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	G	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/11																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047R	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	T	SNP	1	DOID:1612	BRC	20453058,18676830,15805248,15647370,15254419,18725974,22162589,22162582	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pik3ca/10																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047L	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	T	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pik3ca/10																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047L	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	T	SNP	1	DOID:3908	NSCLC	16930767,15016963,15647370,15254419,20453058,18725974,22162589,19513541,19029981,16906227,21430269	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pik3ca/10																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047L	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
3	178952085	178952085	A	T	SNP	1	DOID:2394	OC	15647370,22271473	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pik3ca/10																																							PIK3CA	ENST00000263967	human	ensembl	74_37	+1	known	missense	c.3140	p.H1047L	1.000	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	-	no_errors	PIK3CA	HGNC	ENSG00000121879
4	1806099	1806099	A	G	SNP	1	DOID:0070004	Myeloma	19331127,21273588,22869148				missense mutation	gain-of-function	activation	resistance	bortezomib	preclinical	emerging	19331127, 21273588	sensitivity	FGFR inhibitors	preclinical	emerging	22869148																									FGFR3	FGFR3	ENST00000340107	human	ensembl	74_37	+1	known	missense	c.1124	p.Y375C	0.970	pirsf_FGF_rcpt_fam	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR3	HGNC	ENSG00000068078
4	1807488	1807488	G	A	SNP	1	DOID:0070004	Myeloma	22869148				missense mutation	gain-of-function	activation	resistance	FGFR inhibitors	preclinical	emerging	22869148																														FGFR3	FGFR3	ENST00000340107	human	ensembl	74_37	+1	known	missense	c.1663	p.V555M	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR3	HGNC	ENSG00000068078
4	55141036	55141036	T	A	SNP	1	DOID:9253	GIST	14645423,15928335	MyCancerGenome		http://www.mycancergenome.org/content/disease/gist/pdgfra/48																																							PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.1682	p.V561D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55141083	55141083	C	T	SNP	1	DOID:1909	Melanoma	24132921				missense mutation	gain-of-function	activation	sensitivity	imatinib, crenolanib	preclinical	emerging	24132921																														PDGFRA	PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.1729	p.P577S	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55144144	55144144	T	C	SNP	1	DOID:1909	Melanoma	24132921				missense mutation	gain-of-function	activation	sensitivity	crenolanib	preclinical	emerging	24132921	resistance	imatinib	preclinical	emerging	24132921																									PDGFRA	PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.1973	p.V658A	0.052	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55144148	55144148	C	A	SNP	1	DOID:9253	GIST	14645423,15928335	MyCancerGenome		http://www.mycancergenome.org/content/disease/gist/pdgfra/51																																							PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.1977	p.N659K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55144148	55144148	C	G	SNP	1	DOID:9253	GIST	14645423,15928335	MyCancerGenome		http://www.mycancergenome.org/content/disease/gist/pdgfra/51																																							PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.1977	p.N659K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55152090	55152090	G	A	SNP	1	DOID:1909	Melanoma	24132921				missense mutation	gain-of-function	activation	sensitivity	imatinib, crenolanib	preclinical	emerging	24132921																														PDGFRA	PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.2522	p.R841K	0.992	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55152093	55152093	A	T	SNP	1	DOID:9253	GIST	14645423,15928335,22718859,16638875,18794084,22745105,18794084	MyCancerGenome		http://www.mycancergenome.org/content/disease/gist/pdgfra/45	missense mutation	gain-of-function	activation	resistance	imatinib, sunitinib	late trials, preclinical	emerging	22718859, 16638875	sensitivity	HSP90 inhibitors	preclinical	emerging	18794084	sensitivity	crenolanib	preclinical	emerging	22745105	sensitivity	dasatinib	preclinical	emerging	18794084																PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.2525	p.D842V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55152101	55152101	C	T	SNP	1	DOID:1909	Melanoma	24132921				missense mutation	gain-of-function	activation	sensitivity	imatinib, crenolanib	preclinical	emerging	24132921																														PDGFRA	PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.2533	p.H845Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55152126	55152126	G	A	SNP	1	DOID:1909	Melanoma	24132921				missense mutation	gain-of-function	activation	sensitivity	imatinib, crenolanib	preclinical	emerging	24132921																														PDGFRA	PDGFRA	ENST00000257290	human	ensembl	74_37	+1	known	missense	c.2558	p.G853D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	PDGFRA	HGNC	ENSG00000134853
4	55592144	55592144	G	A	SNP	1	DOID:3284	Thymic Cancer	22357254,21325067	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/218																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1468	p.E490K	0.942	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55592186	55592186	T	C	SNP	1	DOID:1909	Melanoma	21131919	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1510	p.F504L	0.993	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593584	55593584	A	C	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1650	p.K550N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593584	55593584	A	T	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1650	p.K550N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593591	55593591	T	A	SNP	1	DOID:1909	Melanoma	21969494,22357254	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1657	p.Y553N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593591	55593591	T	A	SNP	1	DOID:3284	Thymic Cancer	21969494,22357254,23375402	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/124	missense mutation	gain-of-function	activation	response	imatinib	case report	emerging	21969494	response	sunitinib	case report	emerging	23375402																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1657	p.Y553N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593594	55593594	GAAGTACAGTGGAAG	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1660	p.EVQW554in_frame_delKYSG	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593594	55593594	GAAGTACAGTGGAAGGTT	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1660	p.EVQW554in_frame_delKYSG	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	CTA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.Q556in_frame_insPK	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	CTC	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.556in_frame_insP	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	CTG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.Q556in_frame_insPE	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	CTT	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.QWKV556in_frame_insP*	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	TTA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.Q556in_frame_insLK	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593600	55593601	-	TTG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1666_1667	p.Q556in_frame_insLE	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593603	55593603	T	A	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,17372901,18980976,21642685,18421059,18510589,19812602,22261812,19671763,18936790,21690468	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1669	p.W557R	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593603	55593603	T	C	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,17372901,18980976,21642685,18421059,18510589,19812602,22261812,19671763,18936790,21690468	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1669	p.W557R	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593603	55593603	T	C	SNP	1	DOID:3284	Thymic Cancer	12960119,22357254	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/110																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1669	p.W557R	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593608	55593608	G	C	SNP	1	DOID:1909	Melanoma	22160160	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1674	p.K558N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593608	55593608	G	T	SNP	1	DOID:1909	Melanoma	22160160	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1674	p.K558N	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593609	55593609	G	A	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1675	p.V559I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593609	55593609	G	A	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason: read 3rd article	3rd article		KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1675	p.V559I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593609	55593611	GTT	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1675_1677	p.V560in_frame_del	1.000:1.000:0.959	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593610	55593610	T	A	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason: read 3rd article and 2nd article	3rd and 2nd article		KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1676	p.V559D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593610	55593610	T	A	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,17372901,18980976,16908931,19812602,19671763,18936790,21690468,21642685	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1676	p.V559D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593610	55593610	T	C	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,17372901,18980976,16908931,19812602,19671763,18936790,21690468,21642685,24755198																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1676	p.V559A	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593610	55593610	T	C	SNP	1	DOID:3284	Thymic Cancer	20736294,12960119,22357254	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/112																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1676	p.V559A	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593610	55593610	T	G	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1676	p.V559G	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593612	55593612	GTT	-	DEL	1	DOID:3284	Thymic Cancer	19861435,15201427,17372901,15201427,15930355,15201427	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/123	deletion mutation	gain-of-function	activation	response	imatinib	case report	emerging	15201427																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1678	p.VEEI560in_frame_delLRR	0.999	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593613	55593613	T	A	SNP	1	DOID:1909	Melanoma	18936790	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1679	p.V560D	0.998	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593613	55593613	T	C	SNP	1	DOID:1909	Melanoma	18936790	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1679	p.V560A	0.998	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593613	55593613	T	G	SNP	1	DOID:1909	Melanoma	18936790	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1679	p.V560G	0.998	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593628	55593628	G	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1694	p.G565V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593630	55593630	A	G	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1696	p.N566D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593630	55593647	AACAATTATGTTACAGAC	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1696_1713	p.NNYVYI566in_frame_del	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.897:1.000:1.000:1.000:1.000:1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593630	55593656	AACAATTATGTTACAGACCCAACA	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1696_1722	p.NNYVYIDPT566in_frame_del	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.897:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.993:1.000:1.000:0.366	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593640	55593640	T	G	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1706	p.V569G	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCAGAA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPRK	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCAGAG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPRE	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCCGAA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPRK	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCCGAG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPRE	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCGGAA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPGK	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCGGAG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.Q575in_frame_insPGE	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCTGAA	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.QLPY575in_frame_insP*	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593657	55593658	-	CCTGAG	INS	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_ins	c.1723_1724	p.QLPY575in_frame_insP*	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593661	55593661	T	C	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509, 17372901,18980976,16908931,21642685,19996579,19671763,22261812,22261812,21690468	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/96																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1727	p.L576P	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593661	55593661	T	C	SNP	1	DOID:3284	Thymic Cancer	22357254,17372901,18448188	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/96																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1727	p.L576P	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593664	55593664	CTTATGATC	-	DEL	1	DOID:3284	Thymic Cancer	20970876	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/122																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1730	p.PYDH577in_frame_delLMIT	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55593669	55593671	GAT	-	DEL	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	in_frame_del	c.1735_1737	p.D579in_frame_del	1.000:1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594197	55594197	C	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1900	p.R634W	0.211	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594221	55594221	A	G	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,17372901,18980976,16908931,21642685,18510589,20545949,20545949	MyCancerGenome																																									KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1924	p.K642E	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594258	55594258	T	A	SNP	1	DOID:1909	Melanoma	22932406																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1961	p.V654E	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594258	55594258	T	C	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1961	p.V654A	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594258	55594258	T	C	SNP	1	DOID:9253	GIST	16751810				missense mutation	gain-of-function	activation	decreased sensitivity	imatinib	preclinical	emerging	16751810																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1961	p.V654A	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594258	55594258	T	C	SNP	1	DOID:1909	Melanoma	22932406,22355224	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1961	p.V654A	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594261	55594261	A	G	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1964	p.N655S	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594262	55594262	T	A	SNP	1	DOID:1909	Melanoma	24661573,24531699	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1965	p.N655K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55594262	55594262	T	G	SNP	1	DOID:1909	Melanoma	21569090	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.1965	p.N655K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55595519	55595519	C	T	SNP	1	DOID:9253	GIST	24687822				missense mutation	gain-of-function	activation	resistance	imatinib	case report	emerging	24687822																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2009	p.T670I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55595519	55595519	C	T	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason: "T670I c-Kit mutation showed resistance to imatinib, nilotinib and dasatinib, but responded to sunitinib.	1st article		KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2009	p.T670I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55595599	55595599	C	T	SNP	1	DOID:3284	Thymic Cancer	19861435	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/121	missense mutation	gain-of-function	activation	sensitivity	sunitinib	preclinical	emerging	19861435																															KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2089	p.H697Y	0.859	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599320	G	C	SNP	1	DOID:9253	GIST	19164557																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446	p.D816H	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599320	G	C	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,15790786,18955458,21690468,21642685	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/84																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446	p.D816H	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599320	G	T	SNP	1	DOID:9119	AML	19164557,23714533	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/kit/274																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446	p.D816Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599320	G	T	SNP	1	DOID:9253	GIST	19164557																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446	p.D816Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599320	G	T	SNP	1	DOID:1909	Melanoma	16741525																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446	p.D816Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599320	55599321	GA	AT	DNP	1	DOID:9119	AML	23714533,19164557	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/kit/276																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2446_2447	p.D816I	1.000:1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599321	55599321	A	T	SNP	1	DOID:9119	AML	19164557,23714533,24045550,18986703	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/kit/275	missense mutation	gain-of-function	activation	response	dasatinib	case report	emerging	18986703																															KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2447	p.D816V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599321	55599321	A	T	SNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																										Jason Kunisaki	Reason: "confers high degree of resistance to imatinib and other KIT inhibitors			KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2447	p.D816V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599321	55599321	A	T	SNP	1	DOID:9253	GIST	19164557																																										KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2447	p.D816V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599321	55599321	A	T	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason:			KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2447	p.D816V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599321	55599321	A	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2447	p.D816V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599332	55599332	G	C	SNP	1	DOID:1909	Melanoma	15790786,9438854,11276010,7530509,15790786,18955458,21690468,21642685	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/84																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2458	p.D820H	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599332	55599332	G	T	SNP	1	DOID:1909	Melanoma	20088873,21642685,23775962	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132	missense mutation	gain-of-function	activation	response	imatinib	case report	emerging	23775962																															KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2458	p.D820Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599333	55599333	A	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2459	p.D820V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599333	55599333	A	T	SNP	1	DOID:349	Systemic mastocytosis	18559612				missense mutation	gain-of-function	activation	response	dasatinib	early trials	emerging	18559612																															KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2459	p.D820V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599334	55599334	T	A	SNP	1	DOID:3284	Thymic Cancer	19461405,22357254,17699867	MyCancerGenome		http://www.mycancergenome.org/content/disease/thymic-carcinoma/kit/120	missense mutation	gain-of-function	activation	response	sorafenib	case report	emerging	19461405																															KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2460	p.D820E	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599338	55599338	A	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2464	p.N822Y	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599339	55599339	A	T	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason: KIT-N822I constitutively activated KIT tyrosine phosphorylation. In vitro assays on KIT-N822I-expressing Ba/F3 cells confirmed that the N822I mutant is resistant to imatinib mesylate.			KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2465	p.N822I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599339	55599339	A	T	SNP	1	DOID:1909	Melanoma	21159146	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2465	p.N822I	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599340	55599340	T	A	SNP	1	DOID:9119	AML	23149070				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	23149070																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2466	p.N822K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599340	55599340	T	A	SNP	1	DOID:1909	Melanoma	21642685,22932406	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2466	p.N822K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599340	55599340	T	G	SNP	1	DOID:9119	AML	23149070				missense mutation	gain-of-function	activation	sensitivity	dasatinib	preclinical	emerging	23149070																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2466	p.N822K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599340	55599340	T	G	SNP	1	DOID:1909	Melanoma	21642685,22932406	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2466	p.N822K	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599341	55599341	T	G	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2467	p.Y823D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55599341	55599341	T	G	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2467	p.Y823D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55602664	55602664	G	C	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																														KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2485	p.A829P	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55602664	55602664	G	C	SNP	1	DOID:9253	GIST	23582185,21689725,17259998				missense mutation	gain-of-function	activation	resistance	imatinib	preclinical	emerging	23582185, 21689725, 17259998																										Jason Kunisaki	Reason: "The secondary A829P c-Kit mutation rendered cells resistant to imatinib, but did not suppress the activity of the tyrosine kinase inhibitors nilotinib and dasatinib	1st article		KIT	KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2485	p.A829P	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55602664	55602664	G	C	SNP	1	DOID:1909	Melanoma	23582185	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2485	p.A829P	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55602700	55602700	A	G	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2521	p.I841V	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
4	55602770	55602770	C	T	SNP	1	DOID:1909	Melanoma		MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/kit/132																																							KIT	ENST00000288135	human	ensembl	74_37	+1	known	missense	c.2591	p.S864F	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	KIT	HGNC	ENSG00000157404
5	35873597	35873597	A	T	SNP	1	DOID:1037	ALL	22897847,22955920				mutation	gain-of-function	activation	sensitivity	ruxolitinib (in SH2B3 deleted)	preclinical	emerging	22897847, 22955920	sensitivity	mTOR inhibitors  (in SH2B3 deleted)	preclinical	emerging	22955920																										IL7R	ENST00000303115	human	ensembl	74_37	+1	known	missense	c.553	p.S185C	0.001	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	-	no_errors	IL7R	HGNC	ENSG00000168685
5	149441328	149441328	A	C	SNP	1	DOID:2531	MPN	18971950				missense mutation	gain-of-function	activation	sensitivity	imatinib	preclinical	emerging	18971950																														CSF1R	CSF1R	ENST00000286301	human	ensembl	74_37	-1	known	missense	c.1711	p.Y571D	1.000	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,superfamily_Kinase-like_dom	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	CSF1R	HGNC	ENSG00000182578
5	170837546	170837547	-	CATG	INS	1	DOID:9119	AML	19657110		TimLey																																								NPM1	ENST00000296930	human	ensembl	74_37	+1	known	frame_shift_ins	c.862_863	p.W288fs	1.000:1.000	NULL	superfamily_Nucleoplasmin_core_dom	-	no_errors	NPM1	HGNC	ENSG00000181163
5	170837546	170837547	-	CCTG	INS	1	DOID:9119	AML	19657110		TimLey																																								NPM1	ENST00000296930	human	ensembl	74_37	+1	known	frame_shift_ins	c.862_863	p.W288fs	1.000:1.000	NULL	superfamily_Nucleoplasmin_core_dom	-	no_errors	NPM1	HGNC	ENSG00000181163
5	170837546	170837547	-	TCAG	INS	1	DOID:9119	AML	19657110		TimLey																																								NPM1	ENST00000296930	human	ensembl	74_37	+1	known	frame_shift_ins	c.862_863	p.W288fs	1.000:1.000	NULL	superfamily_Nucleoplasmin_core_dom	-	no_errors	NPM1	HGNC	ENSG00000181163
5	170837546	170837547	-	TCTG	INS	1	DOID:9119	AML	19657110		TimLey																																								NPM1	ENST00000296930	human	ensembl	74_37	+1	known	frame_shift_ins	c.862_863	p.W288fs	1.000:1.000	NULL	superfamily_Nucleoplasmin_core_dom	-	no_errors	NPM1	HGNC	ENSG00000181163
5	176522416	176522416	C	A	SNP	1	DOID:3247	Rhabdomyosarcoma	24124571				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	24124571																										Jason Kunisaki	Reason: the drug ponatinib was tested with to detemrine how effective it is against RMS mutations in FGFR4			FGFR4	FGFR4	ENST00000292408	human	ensembl	74_37	+1	known	missense	c.1605	p.N535K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR4	HGNC	ENSG00000160867
5	176522416	176522416	C	G	SNP	1	DOID:3247	Rhabdomyosarcoma	24124571				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	24124571																										Jason Kunisaki	Reason: the drug ponatinib was tested with to detemrine how effective it is against RMS mutations in FGFR4			FGFR4	FGFR4	ENST00000292408	human	ensembl	74_37	+1	known	missense	c.1605	p.N535K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR4	HGNC	ENSG00000160867
5	176522552	176522552	T	A	SNP	1	DOID:3247	Rhabdomyosarcoma	24124571				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	24124571																										Jason Kunisaki	Reason: the drug ponatinib was tested with to detemrine how effective it is against RMS mutations in FGFR4	Note: other variants might be specified in other articles on page 2		FGFR4	FGFR4	ENST00000292408	human	ensembl	74_37	+1	known	missense	c.1649	p.V550E	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR4	HGNC	ENSG00000160867
6	117638347	117638347	C	T	SNP	1	DOID:3910	Lung_adeno	23724914				missense mutation	gain-of-function	activation	resistance	crizotinib	case report	emerging	23724914																															ROS1	ENST00000368508	human	ensembl	74_37	-1	known	missense	c.6094	p.G2032R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	ROS1	HGNC	ENSG00000047936
6	152332832	152332832	G	C	SNP	1	DOID:1612	Breast	24185512,24185510,24398047				missense mutation	gain-of-function	activation	resistance	anti-estrogens	early trials	emerging	24185512, 24185510, 24398047																															ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1138	p.E380Q	1.000	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152415537	152415537	T	C	SNP	1	DOID:0060077	Breast Cancer	24185512	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1387	p.S463P	1.000	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419914	152419914	T	A	SNP	1	DOID:0060077	Breast Cancer	24185512	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1601	p.V534E	1.000	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419917	152419917	C	A	SNP	1	DOID:0060077	Breast Cancer	24185512	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/	missense mutation	gain-of-function	activation	resistance	anti-estrogens	early trials	emerging	24185512																															ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1604	p.P535H	1.000	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419920	152419920	T	G	SNP	1	DOID:0060077	Breast Cancer	24185512,24185510	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/	missense mutation	gain-of-function	activation	resistance	anti-estrogens	early trials	emerging	24185512, 24185510																															ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1607	p.L536R	0.995	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419922	152419922	T	A	SNP	1	DOID:0060077	Breast Cancer	24185512,24398047	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1609	p.Y537N	0.998	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419923	152419923	A	C	SNP	1	DOID:0060077	Breast Cancer	24185512,24398047,24185510	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1610	p.Y537S	0.999	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419923	152419923	A	G	SNP	1	DOID:0060077	Breast Cancer	24185512,24398047	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1610	p.Y537C	0.999	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
6	152419926	152419926	A	G	SNP	1	DOID:0060077	Breast Cancer	24185512,24398047,24185510,24217577	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/er/314/																																							ESR1	ENST00000206249	human	ensembl	74_37	+1	known	missense	c.1613	p.D538G	1.000	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	-	no_errors	ESR1	HGNC	ENSG00000091831
7	6426892	6426892	C	T	SNP	1	DOID:1909	Melanoma					missense mutation	gain-of-function	activation	resistance	BRAF inhibitors in BRAF mutant tumors	case report	emerging	J Clin Oncol 31, 2013 (suppl; abstr 11009)																														RAC1	RAC1	ENST00000356142	human	ensembl	74_37	+1	known	missense	c.85	p.P29S	1.000	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	RAC1	HGNC	ENSG00000136238
7	55211080	55211080	G	A	SNP	1	DOID:1319	Brain	17177598				missense mutation	gain-of-function	activation	sensitivity	erlotinib	preclinical	emerging	17177598																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.323	p.R108K	0.998	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55221743	55221743	A	C	SNP	1	DOID:1319	Brain	17177598				missense mutation	gain-of-function	activation	sensitivity	erlotinib	preclinical	emerging	17177598																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.787	p.T263P	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55221822	55221822	C	T	SNP	1	DOID:1319	Brain	17177598				missense mutation	gain-of-function	activation	sensitivity	erlotinib	preclinical	emerging	17177598																															EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.866	p.A289V	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55233043	55233043	G	T	SNP	1	DOID:1319	Brain	17177598				missense mutation	gain-of-function	activation	sensitivity	erlotinib	preclinical	emerging	17177598																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.1793	p.G598V	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55228007	55228007	A	G	SNP	1	DOID:9256	Colorectal	22270724				missense mutation	gain-of-function	activation	resistance	cetuximab	case report	emerging	22270724	response	panitumumab	case report	emerging	22270724																									EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.1474	p.S492G	0.963	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55231430	55231430	C	T	SNP	1	DOID:162	Head Neck	23578570				missense mutation	gain-of-function	activation	response	cetuximab	case report	emerging	23578570																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.1636	p.P546S	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55241620	55241620	G	A	SNP	1	DOID:1380	Endometrial	22885469				missense mutation	gain-of-function	activation	response	lapatinib	case report	emerging	22885469																															EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2068	p.E690K	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55241707	55241707	G	A	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,19922469,15710947,16011858,16115929,20479403,22753918,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/3	missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2155	p.G719S	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55241707	55241707	G	T	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,19922469,15710947,16011858,16115929,20479403,22753918,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/2	missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2155	p.G719C	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55241708	55241708	G	A	SNP	1	DOID:3907	Lung_adeno_squamous	22753918,23102728				missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728										EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2156	p.G719D	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55241708	55241708	G	C	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,19922469,15710947,16011858,16115929,20479403,22753918,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/1	missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2156	p.G719A	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55242470	55242470	T	C	SNP	1	DOID:3907	Lung_adeno_squamous	22753918,23102728				missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728										EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2240	p.L747S	0.990	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55242487	55242487	C	T	SNP	1	DOID:162	Head Neck	24934779				missense mutation	gain-of-function	activation	response	cetuximab plus sirolimus	case report	emerging	24934779																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2257	p.P753S	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55249005	55249005	G	T	SNP	1	DOID:3907	Lung_adeno_squamous	22753918,23102728				missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728										EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2303	p.S768I	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55249071	55249071	C	T	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,16912157,15728811,15737014,21430269,21194487,21531810,20068085,16258541,22588155,22452896,23816963,24729716,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/4	missense mutation	gain-of-function	activation	resistance	erlotinib, afatinib	NCCN/ CAP guidelines	consensus	NCCN	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	response	irreversible EGFR T790M inhibitors	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr 2524), ASCO 2014; abstr 8009	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2369	p.T790M	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55259469	55259469	G	A	SNP	1	DOID:162	Head Neck	21274259				missense mutation	gain-of-function	activation	no response	gefitinib	case report	emerging	21274259																														EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2527	p.V843I	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55259515	55259515	T	G	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,19922469,21670455,20573926,20022809,19692680,19692684,22285168,23816960,22452895,21783417,19096302,18303429,23948351,22753918,20479403,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/5	missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2573	p.L858R	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55259524	55259524	T	A	SNP	1	DOID:3908	NSCLC	15118073,15118125,15329413,19922469,22753918,23102728	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/egfr/6	missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728											EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2582	p.L861Q	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55259524	55259524	T	C	SNP	1	DOID:3907	Lung_adeno_squamous	22753918,23102728				missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728										EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2582	p.L861P	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	55259524	55259524	T	G	SNP	1	DOID:3907	Lung_adeno_squamous	22753918,23102728				missense mutation	gain-of-function	activation	response	erlotinib, afatinib	FDA-approved	consensus	FDA	response	irreversible EGFR TKIs	late trials	emerging	22753918	response	afatinib + cetuximab	early trials	emerging	Annals Oncol 2012;23(Suppl 9):1289	response	HSP90 inhibitors	early trials	emerging	Annals Oncol 2012;23(Suppl 9):4380	sensitivity	MEK inhibitors (alone or in combination)	preclinical	emerging	23102728										EGFR	EGFR	ENST00000275493	human	ensembl	74_37	+1	known	missense	c.2582	p.L861R	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	EGFR	HGNC	ENSG00000146648
7	116411923	116411923	C	T	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.2962	p.R988C	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116411990	116411990	C	T	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3029	p.T1010I	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116417457	116417457	G	A	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3328	p.V1110I	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116417464	116417464	A	G	SNP	1	DOID:4451	Renal	23213094				missense mutation	gain-of-function	activation	response	MET inhibitors	early trials	emerging	23213094																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3335	p.H1112R	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423414	116423414	A	G	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	reduced sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3743	p.Y1248C	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423428	116423428	T	G	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	reduced sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3757	p.Y1253D	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423474	116423474	T	C	SNP	1	DOID:4451	Renal	23610116				missense mutation	gain-of-function	activation	response	MET inhibitors	case report	emerging	23610116																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3803	p.M1268T	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423475	116423475	G	A	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3804	p.M1268I	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423475	116423475	G	C	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3804	p.M1268I	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	116423475	116423475	G	T	SNP	1	DOID:162	Cancer	17483355				missense mutation	gain-of-function	activation	sensitivity	crizotinib	preclinical	emerging	17483355																														MET	MET	ENST00000318493	human	ensembl	74_37	+1	known	missense	c.3804	p.M1268I	1.000	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	-	no_errors	MET	HGNC	ENSG00000105976
7	128829195	128829196	CC	TT	DNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/164																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.203_204	p.A68V	0.997:0.999	superfamily_Frizzled_dom,pfscan_Frizzled_dom	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128845101	128845101	C	T	SNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/165																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.595	p.R199W	0.962	NULL	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128846116	128846117	CC	TT	DNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/166																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1046_1047	p.T349I	1.000:1.000	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128849189	128849189	G	C	SNP	1	DOID:2513	BCC	19726788,22679179	MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/163																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1417	p.D473H	1.000	pfam_Frizzled,pfscan_GPCR_2-like	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128849189	128849189	G	C	SNP	1	DOID:0050902	Medulloblastoma	19726788,22679179	MyCancerGenome		http://www.mycancergenome.org/content/disease/medulloblastoma/smo/163	missense mutation	gain-of-function	activation	resistance	vismodegib	case report	emerging	19726788																															SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1417	p.D473H	1.000	pfam_Frizzled,pfscan_GPCR_2-like	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128849224	128849225	CC	TT	DNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/167																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1452_1453	p.R485W	1.000:1.000	pfam_Frizzled,pfscan_GPCR_2-like	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128850279	128850280	CC	TT	DNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/168																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1542_1543	p.L515F	1.000:1.000	pfam_Frizzled	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128850341	128850341	G	T	SNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/169																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1604	p.W535L	1.000	pfam_Frizzled,prints_Frizzled	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128850838	128850838	G	A	SNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/170																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1685	p.R562Q	1.000	NULL	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128851883	128851883	C	T	SNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/171																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.1955	p.A652V	1.000	NULL	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	128852191	128852192	CC	TT	DNP	1	DOID:2513	BCC		MyCancerGenome		http://www.mycancergenome.org/content/disease/basal-cell-carcinoma/smo/172																																							SMO	ENST00000249373	human	ensembl	74_37	+1	known	missense	c.2263_2264	p.P755F	0.101:0.106	NULL	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	-	no_errors	SMO	HGNC	ENSG00000128602
7	148508728	148508728	A	G	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1936	p.Y646H	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508728	148508728	A	T	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1936	p.Y646N	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508727	148508727	T	A	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1937	p.Y646F	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508727	148508727	T	G	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1937	p.Y646S	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148506467	148506467	G	C	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.2045	p.A682G	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	140453133	140453133	T	C	SNP	1	DOID:1909	Melanoma	23248257				missense mutation	gain-of-function	activation	response	MEK inhibitors	case report	emerging	23248257																														BRAF	BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1802	p.K601R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453134	140453134	T	C	SNP	1	DOID:1909	Melanoma	14679157,12068308,22798288,20818844,21639808,22356324,22663011,22663011,22805292,22048237,22972589	MyCancerGenome																																									BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1801	p.K601E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453135	140453136	CA	AT	DNP	1	DOID:1909	Melanoma	12068308,14679157,22048237,22972589,22663011,22805292,20630094,21639808,22608338,23020132,20818844,22735384,22356324,20551065	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/114																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1800_1799	p.V600D	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	C	SNP	1	DOID:1909	Melanoma	12068308,14679157,21639808,22608338,23020132,20818844,22735384,22356324,22663011,22805292,22048237,22972589	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/115																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600G	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:9256	CC	19537845,21129611,20350999,12068308,21163703,20857202,20413299,21426297,22281684,22448344,22180495,20619739,21163703,23325582,22608338,22281684,23251002,23549875,24107445,24163374	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/54	missense mutation	gain-of-function	activation	resistance	cetuximab, panitumumab	late trials	emerging	20619739, 21163703, 23325582	response	BRAF inhibitors +/- MEK inhibitors	early trials	emerging	22608338, J Clin Oncol 2010;28:(suppl; abstr 3534), J Clin Oncol 2012;30:(suppl; abstr 3528)	sensitivity	BRAF inhibitors + EGFR inhibitors	preclinical	emerging	22281684	sensitivity	BRAF inhibitors + PI3K pathway inhibitors	preclinical	emerging	23251002, 23549875	sensitivity	proteosome inhibitors	preclinical	emerging	24107445	sensitivity	mTOR inhibitors + BH3 mimetics	preclinical	emerging	24163374						BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:9253	GIST	19561230,12068308,20818844,21639808,23470635,22608338	MyCancerGenome		http://www.mycancergenome.org/content/disease/gist/braf/54	missense mutation	gain-of-function	activation	response	dabrafenib	case report	emerging	23470635, 22608338																															BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22743296,23524406,22773810,23524406,22608338,22743296,19010912	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/54	missense mutation	gain-of-function	activation	resistance	EGFR TKIs	case report	emerging	22773810	response	dabrafenib	early trials	emerging	23524406, 22608338, J Clin Oncol 2013;31: (suppl; abstr 8009)	response	vemurafenib	case report	emerging	22743296	sensitivity	BRAF inhibitors +/- MEK inhibitors	preclinical	emerging	19010912																BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:1909	Melanoma	12068308,14679157,22536370,20630094,21639808,22608338,23020132,20818844,22735384,22356324,22663011,22805292,22048237,22972589,19404918,22389471,21156289,22351686,22997239,23614898,22997239	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/54	missense mutation	gain-of-function	activation	response	vemurafenib, dabrafenib, trametinib, dabrafenib + trametinib	FDA-approved	consensus	FDA	response	BRAF inhibitors	early trials	emerging	J Clin Oncol 2013;31 (suppl; abstr 9028)	sensitivity	BRAF inhibitors + PI3K pathway inhibitors	preclinical	emerging	22389471, 21156289	sensitivity	BRAF inhibitors + HSP90 inhibitors	preclinical	emerging	22351686	sensitivity	BRAF inhibitors + CDK2/4 inhibitors	preclinical	emerging	22997239	sensitivity	ERK inhibitors	preclinical	emerging	23614898, 22997239						BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:2394	OC	21683865,21975775,12068308,20818844,21639808,22608338,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/braf/54	missense mutation	gain-of-function	activation	response	BRAF inhibitors	case report	emerging	22608338	sensitivity	MEK inhibitors	preclinical	emerging	19018267																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:2394	OC	21683865,21975775,12068308,20818844,21639808,22608338	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/braf/54	mutation	gain-of-function	activation	response	dabrafenib	case report	emerging	22608338																															BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:1781	Thyroid Cancer	20818844,19255327,19773371,12068308,18541894,19255327,20368568,19773371,22608338,20818844,23489023,22241789,23406027	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/braf/54	missense mutation	gain-of-function	activation	response	vemurafenib, dabrafenib	early trials	emerging	22608338, 20818844, 23489023	response	MEK inhibitors	early trials	emerging	22241789	response	MEK-enhanced radioiodine uptake	early trials	emerging	23406027	response	BRAF inhibitors + MEK inhibitors	early trials	emerging	J Clin Oncol 2013;31(suppl; abstr 9029)																BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453137	AC	CT	DNP	1	DOID:1909	Melanoma	12068308,14679157,23237741,20551065,21639808,22608338,23020132,20818844,22735384,22356324,22663011,22805292,22048237,22972589,23237741,23248257	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/118	missense mutation	gain-of-function	activation	response	BRAF inhibitors	early trials	emerging	23237741	response	MEK inhibitors	case report	emerging	23248257																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799_1798	p.V600R	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453137	AC	TT	DNP	1	DOID:1909	Melanoma	12068308,14679157,22536370,20630094,12068308,22608338,20818844,22735384,22356324,21639808,22663011,22805292,22972589,22048237,FDA,22356324	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/116	missense mutation	gain-of-function	activation	response	trametinib, dabrafenib + trametinib	FDA-approved	consensus	FDA	response	vemurafenib	late trials	emerging	22356324																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799_1798	p.V600K	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:1319	Brain	22038996,22586120				missense mutation	gain-of-function	activation	sensitivity	BRAF inhibitors	preclinical	emerging	22038996, 22586120																														BRAF	BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453136	140453136	A	T	SNP	1	DOID:0070004	Myeloma	23612012				missense mutation	gain-of-function	activation	response	vemurafenib	case report	emerging	23612012																														BRAF	BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1799	p.V600E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453137	140453137	C	A	SNP	1	DOID:1909	Melanoma	21750866,19404918																																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1798	p.V600L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453137	140453137	C	T	SNP	1	DOID:1909	Melanoma	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22743296,23524406	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/117																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1798	p.V600M	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453145	140453145	A	C	SNP	1	DOID:1909	Melanoma	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22798288,22805292,22798288,23715574	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/138	missense mutation	gain-of-function	activation	response	trametinib, MEK inhibitors	case report	emerging	22805292, 22798288	response	BRAF inhibitors	case report	emerging	23715574																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1790	p.L597R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453145	140453145	A	C	SNP	1	DOID:2394	OC	21683865,21975775,12068308,22798288	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/braf/138																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1790	p.L597R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453145	140453145	A	T	SNP	1	DOID:1909	Melanoma	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22798288,22805292,22798288,23715574	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/188	missense mutation	gain-of-function	activation	response	trametinib, MEK inhibitors	case report	emerging	22805292, 22798288	response	BRAF inhibitors	case report	emerging	23715574																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1790	p.L597Q	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453145	140453146	AG	GA	DNP	1	DOID:1909	Melanoma	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22798288,22805292,22798288,23715574	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/189	missense mutation	gain-of-function	activation	response	trametinib, MEK inhibitors	case report	emerging	22805292, 22798288	response	BRAF inhibitors	case report	emerging	23715574																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1790_1789	p.L597S	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453146	140453146	G	C	SNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22798288	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/73																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1789	p.L597V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453146	140453146	G	C	SNP	1	DOID:1909	Melanoma	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22798288,22805292,22798288,23715574	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/73	missense mutation	gain-of-function	activation	response	trametinib, MEK inhibitors	case report	emerging	22805292, 22798288	response	BRAF inhibitors	case report	emerging	23715574																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1789	p.L597V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453149	140453149	C	G	SNP	1	DOID:9256	CC	19537845,21129611,20350999,12068308,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/150																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1786	p.G596R	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453153	140453153	A	C	SNP	1	DOID:1909	Melanoma	12068308,14679157	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/302																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1782	p.D594E	0.996	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453153	140453153	A	T	SNP	1	DOID:1909	Melanoma	12068308,14679157	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/301																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1782	p.D594E	0.996	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453154	140453154	T	A	SNP	1	DOID:9256	CC	19537845,21129611,20350999,12068308,14678966,15035987,12438234,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/149																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1781	p.D594V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453154	140453154	T	A	SNP	1	DOID:1909	Melanoma	12068308,14679157	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/149																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1781	p.D594V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453154	140453154	T	C	SNP	1	DOID:9256	CC	19537845,21129611,20350999,12068308,22310681,20619739	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/148																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1781	p.D594G	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453154	140453154	T	C	SNP	1	DOID:1909	Melanoma	12068308,14679157,18794803	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/148	missense mutation	gain-of-function (low activity)	activation	sensitivity	sorafenib	preclinical	emerging	18794803																															BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1781	p.D594G	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453154	140453154	T	G	SNP	1	DOID:1909	Melanoma	2872605																																										BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1781	p.D594A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453155	140453155	C	A	SNP	1	DOID:1909	Melanoma																																											BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1780	p.D594Y	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453155	140453155	C	G	SNP	1	DOID:1909	Melanoma	12068308,14679157	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/300																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1780	p.D594H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453155	140453155	C	T	SNP	1	DOID:1909	Melanoma	12068308,14679157	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/298																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1780	p.D594N	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140453155	140453156	CA	TC	DNP	1	DOID:1909	Melanoma	12068308,14679157,20141835	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/braf/299																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1780_1779	p.D594N	1.000:0.999	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481393	140481393	T	C	SNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210,22649091	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/209	missense mutation	reduced kinase activity	activation	response	dasatinib	case report	emerging	22649091																															BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1415	p.Y472C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	A	SNP	1	DOID:9256	CC	19537845,21129611,20350999,18186519,12068308,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/147																																							BRAF	ENST00000496384	human	ensembl	74_37	-1	putative	nonsense	c.229	p.E77*	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	G	SNP	1	DOID:9256	CC	19537845,21129611,20350999,18186519,12068308,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/71																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1406	p.G469A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	G	SNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,22649091,19238210	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/71																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1406	p.G469A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	G	SNP	1	DOID:3910	Lung_adeno	22773810				missense mutation	gain-of-function	activation	resistance	EGFR TKIs	case report	emerging	22773810	sensitivity	EGFR TKIs + MEK inhibitors in EGFR mutant	preclinical	emerging	22773810																									BRAF	BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1406	p.G469A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	T	SNP	1	DOID:9256	CC	19537845,21129611,20350999,18186519,12068308,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/146																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1406	p.G469E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481402	C	T	SNP	1	DOID:1909	Melanoma	18794803				missense mutation	gain-of-function (low activity)	activation	sensitivity	sorafenib	preclinical	emerging	18794803																														BRAF	BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1406	p.G469E	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481402	140481403	CC	AA	DNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,24035431,22649091,19238210	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/310																																							BRAF	ENST00000496384	human	ensembl	74_37	-1	putative	nonsense	c.229_228	p.LEQ76F*	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	BRAF	HGNC	ENSG00000157764
7	140481411	140481411	C	A	SNP	1	DOID:9256	CC	19537845,21129611,20350999,18186519,12068308,22310681	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/braf/70																																							BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1397	p.G466V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	140481411	140481411	C	A	SNP	1	DOID:1324	LC	12460918,23833300,12068308,12460919,21483012,19010912,12068308,22649091,19238210,19010912,22649091,22649091	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/braf/70	missense mutation	reduced kinase activity	activation	sensitivity	dasatinib	preclinical	emerging	22649091																															BRAF	ENST00000288602	human	ensembl	74_37	-1	known	missense	c.1397	p.G466V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	BRAF	HGNC	ENSG00000157764
7	148506467	148506467	G	C	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																														EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.2045	p.A682G	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508727	148508727	T	A	SNP	1	DOID:0060058	Lymphoma	24563539				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	24563539																														EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1937	p.Y646F	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508727	148508727	T	A	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1937	p.Y646F	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
7	148508728	148508728	A	T	SNP	1	DOID:0060058	Lymphoma	23023262				missense mutation	gain-of-function	activation	sensitivity	EZH2 inhibitor	preclinical	emerging	23023262																										Jason Kunisaki	Reason: mutations change "substrate specificity of EZH2", which causes hypertrimethylation of H3K27			EZH2	EZH2	ENST00000320356	human	ensembl	74_37	-1	known	missense	c.1936	p.Y646N	1.000	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	-	no_errors	EZH2	HGNC	ENSG00000106462
9	5073770	5073770	G	T	SNP	1	DOID:9119	AML	24404189,23115274,22829971,22818858,22571758,22041374,21689158,21120162,20339092,20631743,22422826,22829971		TimLey		missense mutation	gain-of-function	activation	response	ruxolitinib	early trials	emerging	22422826	response	JAK inhibitors (alone or in combination)	preclinical	emerging	22829971																										JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.1849	p.V617F	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	5073770	5073770	G	T	SNP	1	DOID:4971	Myelofibrosis	24986690				missense mutation	gain-of-function	activation	response	ruxolitinib	FDA-approved	consensus	FDA																														JAK2	JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.1849	p.V617F	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	5078360	5078360	A	G	SNP	1	DOID:1037	ALL	19470474,22368270,18805579,22955920	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-lymphoblastic-leukemia/jak2/200	missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	18805579, 22955920																															JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.2047	p.R683G	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	5078361	5078361	G	C	SNP	1	DOID:1037	ALL	19470474,22368270,18805579,22955920	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-lymphoblastic-leukemia/jak2/203	missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	18805579, 22955920																															JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.2048	p.R683T	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	5078362	5078362	A	C	SNP	1	DOID:1037	ALL	19470474,22368270,18805579,22955920	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-lymphoblastic-leukemia/jak2/202	missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	18805579, 22955920																															JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.2049	p.R683S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	5078362	5078362	A	T	SNP	1	DOID:1037	ALL	19470474,22368270,18805579,22955920	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-lymphoblastic-leukemia/jak2/201	missense mutation	gain-of-function	activation	sensitivity	ruxolitinib	preclinical	emerging	18805579, 22955920																															JAK2	ENST00000381652	human	ensembl	74_37	+1	known	missense	c.2049	p.R683S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK2	HGNC	ENSG00000096968
9	80409488	80409488	T	A	SNP	1	DOID:1909	Melanoma	18719078,19078957,21083380,1328859,2549426,19078957,22733540,22808163,22653968,22253748	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/gnaq/100	missense mutation	gain-of-function	activation	response	selumetinib	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr CRA9003)	response	PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	22733540, 22808163	sensitivity	PKC inhibitor	preclinical	emerging	22653968, 22253748																					GNAQ	ENST00000286548	human	ensembl	74_37	-1	known	missense	c.626	p.Q209L	1.000	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	-	no_errors	GNAQ	HGNC	ENSG00000156052
9	80409488	80409488	T	C	SNP	1	DOID:1909	Melanoma	18719078,19078957,21083380,1328859,2549426,19078957,22733540,22808163,22653968,22253748	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/gnaq/103	missense mutation	gain-of-function	activation	response	selumetinib	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr CRA9003)	response	PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	22733540, 22808163	sensitivity	PKC inhibitor	preclinical	emerging	22653968, 22253748																					GNAQ	ENST00000286548	human	ensembl	74_37	-1	known	missense	c.626	p.Q209R	1.000	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	-	no_errors	GNAQ	HGNC	ENSG00000156052
9	80409488	80409488	T	G	SNP	1	DOID:1909	Melanoma	18719078,19078957,21083380,1328859,2549426,19078957,22733540,22808163,22653968,22253748	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/gnaq/102	missense mutation	gain-of-function	activation	response	selumetinib	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr CRA9003)	response	PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	22733540, 22808163	sensitivity	PKC inhibitor	preclinical	emerging	22653968, 22253748																					GNAQ	ENST00000286548	human	ensembl	74_37	-1	known	missense	c.626	p.Q209P	1.000	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	-	no_errors	GNAQ	HGNC	ENSG00000156052
9	133738306	133738306	G	A	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.763	p.E255K	1.000	superfamily_Kinase-like_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133738306	133738306	G	A	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	dasatinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.763	p.E255K	1.000	superfamily_Kinase-like_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133738307	133738307	A	T	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.764	p.E255V	1.000	superfamily_Kinase-like_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133738357	133738357	T	C	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.814	p.Y272H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133738357	133738357	T	C	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	dasatinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.814	p.Y272H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133747588	133747588	G	C	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.952	p.V318L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133747588	133747588	G	C	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	21562040																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.952	p.V318L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748282	133748282	A	G	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1000	p.T334A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748282	133748282	A	G	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1000	p.T334A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748283	133748283	C	T	SNP	1	DOID:1037	ALL	22772060				missense mutation	gain-of-function	activation	response	ponatinib	NCCN guidelines	consensus	NCCN	response	AURK inhibitors + BCR-ABL1 inhibitors	case report	emerging	22772060																									BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1001	p.T334I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748283	133748283	C	T	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	ponatinib	NCCN guidelines	consensus	21562040																														BCR-ABL1	ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1001	p.T334I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748288	133748288	T	A	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1006	p.F336I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748288	133748288	T	A	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1006	p.F336I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748288	133748288	T	G	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1006	p.F336V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748288	133748288	T	G	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1006	p.F336V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748289	133748289	T	G	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1007	p.F336C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748289	133748289	T	G	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1007	p.F336C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748290	133748290	C	A	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1008	p.F336L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748290	133748290	C	A	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1008	p.F336L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748290	133748290	C	G	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	nilotinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1008	p.F336L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748290	133748290	C	G	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	nilotinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1008	p.F336L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748414	133748414	T	A	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1132	p.F378I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748414	133748414	T	A	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	dasatinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1132	p.F378I	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748414	133748414	T	C	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1132	p.F378L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748414	133748414	T	C	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	dasatinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1132	p.F378L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748415	133748415	T	G	SNP	1	DOID:1037	ALL					missense mutation	gain-of-function	activation	response	dasatinib, ponatinib	NCCN guidelines	consensus	NCCN																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1133	p.F378C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
9	133748415	133748415	T	G	SNP	1	DOID:8552	CML	21562040				missense mutation	gain-of-function	activation	response	dasatinib, bosutinib, ponatinib	NCCN guidelines	consensus	21562040																															ABL1	ENST00000372348	human	ensembl	74_37	+1	known	missense	c.1133	p.F378C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	-	no_errors	ABL1	HGNC	ENSG00000097007
10	43609950	43609950	C	G	SNP	1	DOID:1781	Thyroid	20065189,22025146,21470995,23056499				missense mutation	gain-of-function	activation	response	vandetanib	FDA-approved	consensus	20065189, 22025146	sensitivity	cabozantinib, sunitinib	preclinical	emerging	21470995	sensitivity	RET inhibitors	preclinical	emerging	23056499																					RET	ENST00000355710	human	ensembl	74_37	+1	known	missense	c.1902	p.C634W	1.000	pirsf_Tyr_kinase_Ret_rcpt	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	-	no_errors	RET	HGNC	ENSG00000165731
10	43617416	43617416	T	C	SNP	1	DOID:1781	Thyroid Cancer	9681850,18541894,19255327,20368568,20847059,20065189,22025146,21455200,20368568,20065189,22025146,21470995,23056499	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/ret/128	missense mutation	gain-of-function	activation	response	vandetanib	FDA-approved	consensus	20065189, 22025146	sensitivity	cabozantinib, sunitinib	preclinical	emerging	21470995	sensitivity	RET inhibitors	preclinical	emerging	23056499																					RET	ENST00000355710	human	ensembl	74_37	+1	known	missense	c.2753	p.M918T	1.000	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	-	no_errors	RET	HGNC	ENSG00000165731
10	89692904	89692904	C	G	SNP	1	DOID:2394	OC	18767981,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pten/145																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	missense	c.388	p.R130G	1.000	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89692904	89692904	C	T	SNP	1	DOID:2394	OC	18767981,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pten/137																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	nonsense	c.388	p.R130*	1.000	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89692905	89692905	G	A	SNP	1	DOID:2394	OC	18767981,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/pten/144																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	missense	c.389	p.R130Q	1.000	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89692993	89692993	G	T	SNP	1	DOID:1612	BRC	20453058,10555148,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pten/24																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	missense	c.477	p.R159S	1.000	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89692993	89692993	G	T	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pten/24																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	missense	c.477	p.R159S	1.000	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89717672	89717672	C	T	SNP	1	DOID:1612	BRC	20453058,10555148,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pten/25																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	nonsense	c.697	p.R233*	0.984	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89717672	89717672	C	T	SNP	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pten/25																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	nonsense	c.697	p.R233*	0.984	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89717672	89717672	C	T	SNP	1	DOID:3908	NSCLC	20018398,9598803,20881644,10555148,20085938,11504908,19351834	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/pten/25																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	nonsense	c.697	p.R233*	0.984	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89717775	89717775	A	-	DEL	1	DOID:1612	BRC	20453058,10555148,20085938,11504908	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/pten/26																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	frame_shift_del	c.800	p.K267fs	1.000	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	89717775	89717775	A	-	DEL	1	DOID:9256	CC	15016963,15647370,15254419,20453058,18725974,22162589,22162582,19903786,20619739,19366826	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/pten/26																																							PTEN	ENST00000371953	human	ensembl	74_37	+1	known	frame_shift_del	c.800	p.K267fs	1.000	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	-	no_errors	PTEN	HGNC	ENSG00000171862
10	123247516	123247516	T	C	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1978	p.K660E	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123256060	123256060	A	T	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1852	p.L618M	0.997	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123256215	123256215	T	C	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1697	p.E566G	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123256219	123256219	C	T	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																					Jason Kunisaki	Reason:	DOUBLE CHECK THIS ONE		FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1693	p.V565I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258034	123258034	A	C	SNP	1	DOID:1380	Endometrial	18552176,22238366,23002168				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	18552176, 22238366, 23002168																														FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1650	p.N550K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258034	123258034	A	C	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1650	p.N550K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258034	123258034	A	T	SNP	1	DOID:1380	Endometrial	18552176,22238366,23002168				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	18552176, 22238366, 23002168																														FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1650	p.N550K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258034	123258034	A	T	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																					Jason Kunisaki	Reason:	DOUBLE CHECK THIS ONE		FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1650	p.N550K	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258036	123258036	T	G	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																					Jason Kunisaki	Reason:	DOUBLE CHECK THIS ONE		FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1648	p.N550H	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258042	123258042	T	C	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1642	p.I548V	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258042	123258042	T	C	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1642	p.I548V	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258070	123258070	C	A	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1614	p.M538I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258070	123258070	C	G	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1614	p.M538I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258070	123258070	C	T	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1614	p.M538I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258076	123258076	C	A	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1608	p.M536I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258076	123258076	C	G	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1608	p.M536I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123258076	123258076	C	T	SNP	1	DOID:1380	Endometrial	23908597				missense mutation	gain-of-function	activation	resistance	dovitinib	preclinical	emerging	23908597	sensitivity	ponatinib	preclinical	emerging	23908597																									FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.1608	p.M536I	1.000	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123279677	123279677	G	C	SNP	1	DOID:1380	Endometrial	18552176,22238366,23002168				missense mutation	gain-of-function	sensitivity	FGFR inhibitors	preclinical	emerging	18552176, 22238366, 23002168																														FGFR2	W290C	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.755	p.S252W	1.000	pirsf_FGF_rcpt_fam	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123278324	123278324	G	C	SNP	1	DOID:3907	Lung_squamous	23786770				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	23786770																														FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.959	p.S320C	1.000	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123279562	123279562	C	G	SNP	1	DOID:3907	Lung_squamous	23786770				missense mutation	gain-of-function	activation	sensitivity	FGFR inhibitors	preclinical	emerging	23786770																														FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.870	p.W290C	1.000	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
10	123279674	123279674	G	C	SNP	1	DOID:162	Head Neck	23786770				missense mutation	gain-of-function	activation	response	pazopanib	case report	emerging	23786770																														FGFR2	FGFR2	ENST00000457416	human	ensembl	74_37	-1	known	missense	c.758	p.P253R	1.000	pirsf_FGF_rcpt_fam	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FGFR2	HGNC	ENSG00000066468
11	533874	533874	T	C	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/hras/307																																							HRAS	ENST00000311189	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	HRAS	HGNC	ENSG00000174775
11	534286	534286	C	A	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/hras/305																																							HRAS	ENST00000311189	human	ensembl	74_37	-1	known	missense	c.37	p.G13C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	HRAS	HGNC	ENSG00000174775
11	534286	534286	C	G	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/hras/306																																							HRAS	ENST00000311189	human	ensembl	74_37	-1	known	missense	c.37	p.G13R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	HRAS	HGNC	ENSG00000174775
11	534288	534288	C	A	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/hras/304																																							HRAS	ENST00000311189	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	0.998	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	HRAS	HGNC	ENSG00000174775
11	534289	534289	C	G	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/hras/303																																							HRAS	ENST00000311189	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	0.998	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	HRAS	HGNC	ENSG00000174775
11	32417909	32417910	-	ACCGTACA	INS	1	DOID:9119	AML	24659740,24671364,24667279,24521058,24422723,24374862		TimLey																																								WT1	ENST00000332351	human	ensembl	74_37	-1	known	frame_shift_ins	c.1143_1142	p.A382fs	0.010:0.999	pfam_Wilms_tumour_N	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	-	no_errors	WT1	HGNC	ENSG00000184937
11	119148891	119148891	T	C	SNP	1	DOID:2531	MPN	23696637				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors, dasatinib	preclinical	emerging	23696637																														CBL	CBL	ENST00000264033	human	ensembl	74_37	+1	known	missense	c.1111	p.Y371H	1.000	NULL	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	-	no_errors	CBL	HGNC	ENSG00000110395
11	119148930	119148930	T	C	SNP	1	DOID:2531	MPN	23696637				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors, dasatinib	preclinical	emerging	23696637																															CBL	ENST00000264033	human	ensembl	74_37	+1	known	missense	c.1150	p.C384R	1.000	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	-	no_errors	CBL	HGNC	ENSG00000110395
12	25378561	25378561	G	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/29																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.437	p.A146V	1.000	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25378561	25378561	G	A	SNP	1	DOID:1781	Thyroid Cancer	23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/29																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.437	p.A146V	1.000	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25378562	25378562	C	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/27																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.436	p.A146P	1.000	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25378562	25378562	C	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/28																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.436	p.A146T	1.000	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25378647	25378647	T	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/161																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.351	p.K117N	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25378647	25378647	T	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/160																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.351	p.K117N	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	A	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/31																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	A	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/31																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	G	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/30																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380275	25380275	T	G	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/30																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.183	p.Q61H	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/42																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61L	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	A	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/42																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61L	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	A	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/42																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61L	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	C	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/43																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	C	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/43																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	C	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/43																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380276	25380276	T	G	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/308																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.182	p.Q61P	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380277	25380277	G	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/41																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380277	25380277	G	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/41																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25380277	25380277	G	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/41																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.181	p.Q61K	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/159																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/68																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	G	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/68																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	T	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462,22734028,20978259,22392911	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/39	missense mutation	gain-of-function	activation	resistance	panitumumab	FDA-rejected	consensus	FDA	response	cetuximab	late trials	emerging	22734028, 20978259	sensitivity	MEK inhibitors + PI3K pathway inhibitors	preclinical	emerging	22392911																					KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/39																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	T	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/39																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398281	25398281	C	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/39																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.38	p.G13D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/38																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	A	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/38																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/40																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	G	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/40																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	G	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/40																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/69																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/69																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398282	25398282	C	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/69																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.37	p.G13S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	A	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/37																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	A	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/37																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	A	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/37																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12V	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/32																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	G	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/32																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	G	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/32																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12A	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	T	SNP	1	DOID:9119	AML	22407852,19075190,16434492,2278970,3122217		TimLey																																								KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/34																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/34																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	T	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/34																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398284	25398284	C	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/34																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.35	p.G12D	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	A	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/33																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	A	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/33																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	A	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/33																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	A	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/33																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12C	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	G	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/35																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	G	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/35																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	G	SNP	1	DOID:2394	OC	21975775,19018267	MyCancerGenome		http://www.mycancergenome.org/content/disease/ovarian-cancer/kras/35																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	G	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/35																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12R	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	T	SNP	1	DOID:9256	CC	18316791,19679400,16361624,19114683,21228335,20921465,16618717,20921462	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/kras/36																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	T	SNP	1	DOID:3908	NSCLC	12460918,18794081	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/kras/36																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	25398285	25398285	C	T	SNP	1	DOID:1781	Thyroid Cancer	17384584,23406027,19773371,19255327	MyCancerGenome		http://www.mycancergenome.org/content/disease/thyroid-cancer/kras/36																																							KRAS	ENST00000256078	human	ensembl	74_37	-1	known	missense	c.34	p.G12S	1.000	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	-	no_errors	KRAS	HGNC	ENSG00000133703
12	56481857	56481857	C	A	SNP	1	DOID:162	Cancer	23680147				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, pertuzumab, lapatinib, anti-HER3 mAbs, PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	23680147																														ERBB3	ERBB3	ENST00000267101	human	ensembl	74_37	+1	known	missense	c.785	p.P262H	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB3	HGNC	ENSG00000065361
12	56481922	56481922	G	A	SNP	1	DOID:219	colon cancer	23680147				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, pertuzumab, lapatinib, anti-HER3 mAbs, PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	23680147																														ERBB3	ERBB3	ENST00000267101	human	ensembl	74_37	+1	known	missense	c.850	p.G284R	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB3	HGNC	ENSG00000065361
12	56481922	56481922	G	A	SNP	1	DOID:10534	gastric cancer	23680147				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, pertuzumab, lapatinib, anti-HER3 mAbs, PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	23680147																														ERBB3	ERBB3	ENST00000267101	human	ensembl	74_37	+1	known	missense	c.850	p.G284R	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB3	HGNC	ENSG00000065361
12	56490980	56490980	A	G	SNP	1	DOID:162	Cancer	23680147				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, lapatinib, PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	23680147																														ERBB3	ERBB3	ENST00000267101	human	ensembl	74_37	+1	known	missense	c.2426	p.Q809R	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB3	HGNC	ENSG00000065361
13	28592620	28592620	T	C	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "Y842 substitutions confer intermediate resistance to these inhibitors [ponatib]	2nd article and 3rd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2525	p.Y842C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592621	28592621	A	G	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "Y842 substitutions confer intermediate resistance to these inhibitors [ponatib]	2nd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2524	p.Y842H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592629	28592629	T	C	SNP	1	DOID:9119	AML	15667533		TimLey																																								FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2516	p.D839G	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592637	28592637	G	C	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504186	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/290																																							FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2508	p.I836M	0.082	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592639	28592639	T	G	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504186	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/284																																							FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2506	p.I836L	0.998	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592640	28592640	A	C	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504183,15256420,11290608,19657110,22504184,23430109,22368270,20733134,16857985	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/283	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2505	p.D835E	0.968	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592640	28592640	A	T	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504183,15256420,11290608,19657110,22504184,23430109,22368270,20733134,16857985	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/288	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2505	p.D835E	0.968	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592641	28592641	T	A	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504183,15256420,11290608,19657110,22504184,23430109,22368270,20733134,16857985	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/282	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2504	p.D835V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592641	28592641	T	A	SNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																										Jason Kunisaki	Reason: idk, FLT3 mutations are "resistance-conferring mutations at relapse", study done with only "8 paired pre-treatment and relapse" patients, "substitutions at F691 and D835 in FLT3-ITD will pose substantial barriers to disease control in AML patients treated with either AC220 or soradenib, and therefore represent high value targets for novel FLT3 inhibitor development efforts			FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2504	p.D835V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592641	28592641	T	G	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504183,22504184,23430109,22368270,20733134,16857985	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/281	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2504	p.D835A	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592641	28592642	TC	AA	DNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																										Jason Kunisaki	Reason: idk, FLT3 mutations are "resistance-conferring mutations at relapse", study done with only "8 paired pre-treatment and relapse" patients, "substitutions at F691 and D835 in FLT3-ITD will pose substantial barriers to disease control in AML patients treated with either AC220 or soradenib, and therefore represent high value targets for novel FLT3 inhibitor development efforts	Not normal (GAU to UUU or UUC)		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2504_2503	p.D835F	1.000:1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592642	28592642	C	A	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504183,15256420,11290608,19657110,22504184,23430109,22368270,20733134,16857985	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/280	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2503	p.D835Y	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592642	28592642	C	A	SNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																										Jason Kunisaki	Reason: idk, FLT3 mutations are "resistance-conferring mutations at relapse", study done with only "8 paired pre-treatment and relapse" patients, "substitutions at F691 and D835 in FLT3-ITD will pose substantial barriers to disease control in AML patients treated with either AC220 or soradenib, and therefore represent high value targets for novel FLT3 inhibitor development efforts			FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2503	p.D835Y	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592642	28592642	C	G	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504184,15256420,11290608,22504184,23430109,22368270,20733134,16857985	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/278	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2503	p.D835H	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28592642	28592642	C	T	SNP	1	DOID:9119	AML	23261068,23783394,23321257,22368270,23714533,22504185,15256420,11290608,22504184,23430109,22368270,20733134,16857985	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/flt3/279	missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	resistance	sorafenib	case report	emerging	22368270	response	midostaurin	case report	emerging	20733134	response	lestaurtinib	case report	emerging	16857985											FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2503	p.D835N	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28601359	28601359	A	C	SNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																														FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2073	p.F691L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28601359	28601359	A	T	SNP	1	DOID:9119	AML	22504184				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184																														FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2073	p.F691L	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28601373	28601373	T	A	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "These results suggested that a mutation in either TKD was sufficient to provide resistance to sorafenib-induced apoptosis, and that a mutational alteration in TKD2 was more important to the acquired resistance compared to an analogous alteration in the TKD1. Furthermore, cells with compound mutations in both TKDs (e.g., the Ba/F3-ITD-Res and the engineered Ba/F3-ITD+676/842 cells) in addition to the ITD mutations displayed even greater resistance (EC50 of 4.2 ± 1.50 and 6.6 ± 0.53 μmol/L, respectively; Fig. 1B), indicating a pivotal role for the integrity of both TKDs in maintaining sensitivity of FLT3-ITD AML cells to sorafenib.	3rd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2059	p.I687F	0.015	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28602340	28602340	G	C	SNP	1	DOID:9119	AML	23878140,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	23878140	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																									FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2028	p.N676K	0.547	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28602340	28602340	G	T	SNP	1	DOID:9119	AML	23878140,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	23878140	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																					Jason Kunisaki	Reason: "the FLT3 N676K mutation was identified in 5 and 1 patients, respectively (5 [6%] of 84; 1 [3%] of 36). The FLT3-N676K mutant alone leads to factor-independent growth in Ba/F3 cells and, together with a concurrent FLT3-ITD (internal tandem duplication), confers resistance to the FLT3 protein tyrosine kinase inhibitors (PTKIs", small sample size, not much evidence to support that it should be put in DoCM?, "patients regularly develop resistance to FLT3 inhibitors suggesting that targeted combination drug strategies are needed to enhance AML therapy efficacy." (second article)			FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2028	p.N676K	0.547	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28602342	28602342	T	C	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "We screened for acquired mutations of the FLT3 gene in the sorafenib-resistant cell line Ba/F3-ITD-Res developed by long-term exposure of Ba/F3-ITD cells to low doses of sorafenib in vitro, and identified N676D and Y842C mutations in TKD1 and TKD2, respectively (Fig. 1A).	3rd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.2026	p.N676D	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28602416	28602416	T	C	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "These results suggested that a mutation in either TKD was sufficient to provide resistance to sorafenib-induced apoptosis, and that a mutational alteration in TKD2 was more important to the acquired resistance compared to an analogous alteration in the TKD1. Furthermore, cells with compound mutations in both TKDs (e.g., the Ba/F3-ITD-Res and the engineered Ba/F3-ITD+676/842 cells) in addition to the ITD mutations displayed even greater resistance (EC50 of 4.2 ± 1.50 and 6.6 ± 0.53 μmol/L, respectively; Fig. 1B), indicating a pivotal role for the integrity of both TKDs in maintaining sensitivity of FLT3-ITD AML cells to sorafenib.	3rd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.1952	p.D651G	0.996	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
13	28608111	28608111	C	A	SNP	1	DOID:9119	AML	22504184,23430109,24619500				missense mutation	gain-of-function	activation	resistance	quizartinib	preclinical	emerging	22504184	resistance	ponatinib	preclinical	emerging	23430109	sensitivity	crenolanib, PKC412	preclinical	emerging	24619500																Jason Kunisaki	Reason: "These results suggested that a mutation in either TKD was sufficient to provide resistance to sorafenib-induced apoptosis, and that a mutational alteration in TKD2 was more important to the acquired resistance compared to an analogous alteration in the TKD1. Furthermore, cells with compound mutations in both TKDs (e.g., the Ba/F3-ITD-Res and the engineered Ba/F3-ITD+676/842 cells) in addition to the ITD mutations displayed even greater resistance (EC50 of 4.2 ± 1.50 and 6.6 ± 0.53 μmol/L, respectively; Fig. 1B), indicating a pivotal role for the integrity of both TKDs in maintaining sensitivity of FLT3-ITD AML cells to sorafenib.	3rd article		FLT3	FLT3	ENST00000380982	human	ensembl	74_37	-1	known	missense	c.1855	p.G619C	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	-	no_errors	FLT3	HGNC	ENSG00000122025
14	105243048	105243048	G	T	SNP	1	DOID:1909	Melanoma	24265152				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors	preclinical	emerging	24265152																														AKT1	AKT1	ENST00000349310	human	ensembl	74_37	-1	known	missense	c.235	p.Q79K	1.000	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	-	no_errors	AKT1	HGNC	ENSG00000142208
14	105246551	105246551	C	T	SNP	1	DOID:1612	BRC	20453058,17611497,21464312,17611497	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/akt1/23	missense mutation	gain-of-function	activation	sensitivity	allosteric AKT inhibitors	preclinical	emerging	21464312, 17611497																															AKT1	ENST00000349310	human	ensembl	74_37	-1	known	missense	c.49	p.E17K	1.000	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	-	no_errors	AKT1	HGNC	ENSG00000142208
14	105246551	105246551	C	T	SNP	1	DOID:9256	CC	17611497,20233444,18392055	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/akt1/23																																							AKT1	ENST00000349310	human	ensembl	74_37	-1	known	missense	c.49	p.E17K	1.000	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	-	no_errors	AKT1	HGNC	ENSG00000142208
14	105246551	105246551	C	T	SNP	1	DOID:3908	NSCLC	18504432,18611285,18256540,17611497	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/akt1/23																																							AKT1	ENST00000349310	human	ensembl	74_37	-1	known	missense	c.49	p.E17K	1.000	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	-	no_errors	AKT1	HGNC	ENSG00000142208
14	105246551	105246551	C	T	SNP	1	DOID:2394	Ovarian					missense mutation	gain-of-function	activation	response	non-allosteric AKT inhibitors	case report	emerging	AACR 2013; abstr LB-66																															AKT1	ENST00000349310	human	ensembl	74_37	-1	known	missense	c.49	p.E17K	1.000	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	-	no_errors	AKT1	HGNC	ENSG00000142208
15	28505962	28505962	CAGGTCAGGACCGTT	-	DEL	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/242																																							HERC2	ENST00000261609	human	ensembl	74_37	-1	known	in_frame_del	c.2277	p.DTKH759in_frame_delEPNT	0.996	superfamily_RCC1/BLIP-II	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	-	no_errors	HERC2	HGNC	ENSG00000128731
15	28505975	28505975	A	G	SNP	1	DOID:1612	BRC	23220880	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/246	missense mutation	gain-of-function	activation	sensitivity	neratinib	preclinical	emerging	23220880																															HERC2	ENST00000261609	human	ensembl	74_37	-1	known	missense	c.2264	p.L755S	0.996	superfamily_RCC1/BLIP-II	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	-	no_errors	HERC2	HGNC	ENSG00000128731
15	28517518	28517518	G	C	SNP	1	DOID:1612	BRC	23220880	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/239																																							HERC2	ENST00000261609	human	ensembl	74_37	-1	known	missense	c.926	p.A309G	1.000	NULL	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	-	no_errors	HERC2	HGNC	ENSG00000128731
15	66727441	66727441	T	C	SNP	1	DOID:1909	Melanoma	22197931	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/210																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.157	p.F53L	1.000	NULL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727451	66727451	A	C	SNP	1	DOID:1909	Melanoma	23569304,19915144				missense mutation	gain-of-function	activation	resistance	vemurafenib	case report	emerging	23569304	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	19915144																									MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.167	p.Q56P	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727451	66727451	A	C	SNP	1	DOID:3908	NSCLC	18632602,7651428	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/mek1/74																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.167	p.Q56P	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727453	66727453	A	G	SNP	1	DOID:1909	Melanoma	23569304				missense mutation	gain-of-function	activation	resistance	vemurafenib	case report	emerging	23569304																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.169	p.K57E	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727455	66727455	G	C	SNP	1	DOID:1909	Melanoma	23444215				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	case report	emerging	23444215																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.171	p.K57N	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727455	66727455	G	T	SNP	1	DOID:1909	Melanoma	23444215				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	case report	emerging	23444215																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.171	p.K57N	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727455	66727455	G	T	SNP	1	DOID:3908	NSCLC	18632602	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/mek1/72																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.171	p.K57N	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66727483	66727483	G	A	SNP	1	DOID:3908	NSCLC	18060073,18632602	MyCancerGenome		http://www.mycancergenome.org/content/disease/lung-cancer/mek1/60																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.199	p.D67N	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729088	66729088	T	C	SNP	1	DOID:162	Cancer	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.296	p.I99T	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729100	66729100	T	A	SNP	1	DOID:162	Cancer	19915144,23614898				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144	sensitivity	ERK inhibitors	preclinical	emerging	23614898																									MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.308	p.I103N	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729124	66729124	T	A	SNP	1	DOID:162	Cancer	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.332	p.I111N	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729124	66729124	T	G	SNP	1	DOID:1909	Melanoma	22197931,22588879	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/211	missense mutation	gain-of-function	activation	sensitivity	BRAF inhibitors in BRAF mutant tumor	case report	emerging	22588879																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.332	p.I111S	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729148	66729148	A	C	SNP	1	DOID:162	Cancer	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.356	p.H119P	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729152	66729152	G	C	SNP	1	DOID:162	CANCER	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.360	p.E120D	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729152	66729152	G	T	SNP	1	DOID:162	CANCER	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.360	p.E120D	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729154	66729154	G	C	SNP	1	DOID:1909	Melanoma	22197931,21383288,22588879,21383288,24448821	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/212	missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	case report	emerging	21383288	sensitivity	novel MEK inhibitors	preclinical	emerging	24448821																										MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.362	p.C121S	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729162	66729162	C	T	SNP	1	DOID:1909	Melanoma	22197931,22588879	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/214	missense mutation	gain-of-function	activation	sensitivity	BRAF inhibitors in BRAF mutant tumor	case report	emerging	22588879																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.370	p.P124S	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729163	66729163	C	T	SNP	1	DOID:1909	Melanoma	22197931,19915144,21107320	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/213	missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	case report	emerging	19915144																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.371	p.P124L	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729175	66729175	G	A	SNP	1	DOID:1909	melanoma	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																															MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.383	p.G128D	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66729177	66729177	T	C	SNP	1	DOID:1909	melanoma	19915144,23614898				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144	sensitivity	ERK inhibitors	preclinical	emerging	23614898																										MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.385	p.F129L	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66774131	66774131	G	A	SNP	1	DOID:1909	Melanoma	22197931,23569304,19915144	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/215	missense mutation	gain-of-function	activation	resistance	vemurafenib	case report	emerging	23569304	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	19915144																										MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.607	p.E203K	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66774156	66774156	T	A	SNP	1	DOID:162	Cancer	19915144				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144																														MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.632	p.V211D	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66774168	66774168	T	C	SNP	1	DOID:162	Cancer	19915144,23614898				missense mutation	gain-of-function	activation	resistance	MEK inhibitors	preclinical	emerging	19915144	sensitivity	ERK inhibitors	preclinical	emerging	23614898																									MAP2K1	MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.644	p.L215P	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66777424	66777424	C	T	SNP	1	DOID:1909	Melanoma	22197931,22622578	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/216																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.790	p.P264S	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	66782915	66782915	A	C	SNP	1	DOID:1909	Melanoma	22197931	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/mek1/217																																							MAP2K1	ENST00000307102	human	ensembl	74_37	+1	known	missense	c.1144	p.N382H	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K1	HGNC	ENSG00000169032
15	90631837	90631837	C	G	SNP	1	DOID:9119	AML	22160010,22898539,22417203,24606448	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/272																																							IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.516	p.R172S	0.970	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
15	90631838	90631838	C	A	SNP	1	DOID:9119	AML	22160010,22898539,22417203	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/271																																							IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.515	p.R172M	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
15	90631838	90631838	C	T	SNP	1	DOID:9119	AML	22160010,22417203,24606448,23949315,22397365,20946881	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/270	missense mutation	switch-of-function	activation	response	IDH inhibitor	early trials	emerging	AACR 2014; abstr CT103																															IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.515	p.R172K	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
15	90631934	90631934	C	A	SNP	1	DOID:9119	AML	22160010,22417203	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/268																																							IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.419	p.R140L	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
15	90631934	90631934	C	T	SNP	1	DOID:9119	AML	22160010,24606448,23949315,23815907,22397365,20946881	MyCancerGenome	TimLey	http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/266	missense mutation	switch-of-function	activation	response	IDH inhibitor	early trials	emerging	AACR 2014; abstr CT103																															IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.419	p.R140Q	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
15	90631935	90631935	G	A	SNP	1	DOID:9119	AML	22160010,22898539,22417203	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/idh2/267																																							IDH2	ENST00000330062	human	ensembl	74_37	-1	known	missense	c.418	p.R140W	1.000	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	-	no_errors	IDH2	HGNC	ENSG00000182054
16	81946260	81946260	C	T	SNP	1	DOID:1612	CLL	24869598				missense mutation	gain-of-function	activation	resistance	ibrutinib	early trials	emerging	24869598																														PLCG2	PLCG2	ENST00000359376	human	ensembl	74_37	+1	known	missense	c.1993	p.R665W	1.000	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	-	no_errors	PLCG2	HGNC	ENSG00000197943
16	81962183	81962183	A	C	SNP	1	DOID:1612	CLL	24869598				missense mutation	gain-of-function	activation	resistance	ibrutinib	early trials	emerging	24869598																														PLCG2	PLCG2	ENST00000359376	human	ensembl	74_37	+1	known	missense	c.2535	p.L845F	1.000	superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	-	no_errors	PLCG2	HGNC	ENSG00000197943
16	81962183	81962183	A	T	SNP	1	DOID:1612	CLL	24869598				missense mutation	gain-of-function	activation	resistance	ibrutinib	early trials	emerging	24869598																														PLCG2	PLCG2	ENST00000359376	human	ensembl	74_37	+1	known	missense	c.2535	p.L845F	1.000	superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SH3_domain,smart_Pleckstrin_homology,pirsf_PLC-gamma	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	-	no_errors	PLCG2	HGNC	ENSG00000197943
17	7577120	7577120	C	T	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.818	p.R273H	0.864	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7577121	7577121	G	A	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.817	p.R273C	0.830	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7577535	7577535	C	G	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.746	p.R249T	1.000	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7577536	7577536	T	A	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.745	p.R249W	0.998	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7577538	7577538	C	T	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.743	p.R248Q	1.000	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7578190	7578190	T	C	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.659	p.Y220C	0.998	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7578412	7578412	A	C	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.518	p.V173G	0.995	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	7578412	7578412	A	G	SNP	1	DOID:9119	AML	24641375,24487413,24381225		TimLey																																								TP53	ENST00000269305	human	ensembl	74_37	-1	known	missense	c.518	p.V173A	0.995	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	-	no_errors	TP53	HGNC	ENSG00000141510
17	37868205	37868205	G	A	SNP	1	DOID:3910	lung_adeno	22908275				missense mutation	gain-of-function	activation	sensitivity	ERBB2 TKIs, trastuzumab	preclinical	emerging	22908275																														ERBB2	ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.926	p.G309E	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37868205	37868205	G	C	SNP	1	DOID:1612	Breast	23220880				missense mutation	gain-of-function	activation	sensitivity	lapatinib, neratinib	preclinical	emerging	23220880																														ERBB2	ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.926	p.G309A	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37868208	37868208	C	A	SNP	1	DOID:162	Cancer	22908275				missense mutation	gain-of-function	activation	sensitivity	ERBB2 TKIs, trastuzumab	preclinical	emerging	22908275																														ERBB2	ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.929	p.S310Y	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37868208	37868208	C	T	SNP	1	DOID:162	Cancer	22908275				missense mutation	gain-of-function	activation	sensitivity	ERBB2 TKIs, trastuzumab	preclinical	emerging	22908275																														ERBB2	ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.929	p.S310F	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37880219	37880219	TTGAGGGAAAACACA	-	DEL	1	DOID:1612	BRC	23220880	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/242/																																							ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	in_frame_del	c.2263	p.LREN755in_frame_del*	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37880261	37880261	G	C	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/240																																							ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2305	p.D769H	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37880261	37880261	G	C	SNP	1	DOID:1612	BRC	23220880				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2305	p.D769H	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37880261	37880261	G	T	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/241																																							ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2305	p.D769Y	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37880261	37880261	G	T	SNP	1	DOID:1612	BRC	23220880				missense mutation	gain-of-function	activation	sensitivity	trastuzumab, lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2305	p.D769Y	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881000	37881000	G	T	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/247	missense mutation	gain-of-function	activation	sensitivity	lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2329	p.V777L	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881003	37881004	-	GGCTCCCCA	INS	1	DOID:1612	BRC	23220880	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/243/																																							ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	in_frame_ins	c.2332_2333	p.779in_frame_insLPS	1.000:1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881332	37881332	G	A	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/244	missense mutation	gain-of-function	activation	sensitivity	lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2524	p.V842I	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881332	37881332	G	A	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/244																																							ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2524	p.V842I	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881616	37881616	C	T	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/245	missense mutation	gain-of-function	activation	sensitivity	trastuzumab, lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2686	p.R896C	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
17	37881616	37881616	C	T	SNP	1	DOID:1612	BRC	23220880,16397024	MyCancerGenome		http://www.mycancergenome.org/content/disease/breast-cancer/her2/245	missense mutation	gain-of-function	activation	sensitivity	trastuzumab, lapatinib, neratinib	preclinical	emerging	23220880																															ERBB2	ENST00000269571	human	ensembl	74_37	+1	known	missense	c.2686	p.R896C	1.000	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	ERBB2	HGNC	ENSG00000141736
18	48591826	48591826	A	C	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/151																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.989	p.E330A	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591888	48591888	G	A	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/154																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1051	p.D351N	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591888	48591888	G	C	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/152																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1051	p.D351H	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591902	48591902	C	A	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/155																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1065	p.D355E	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591918	48591918	C	A	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/156																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1081	p.R361S	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591918	48591918	C	T	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/157																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1081	p.R361C	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48591919	48591919	G	A	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/158																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1082	p.R361H	1.000	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
18	48604787	48604787	G	T	SNP	1	DOID:9256	CC	14715079,10479724,12821112,8898652,9679244,17994767,10775259	MyCancerGenome		http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4/153																																							SMAD4	ENST00000342988	human	ensembl	74_37	+1	known	missense	c.1609	p.D537Y	1.000	superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	-	no_errors	SMAD4	HGNC	ENSG00000141646
19	1220489	1220489	C	A	SNP	1	DOID:3247	Pancreatic	21189378				missense mutation	loss-of-function	activation	response	everolimus	case report	emerging	21189378																															STK11	ENST00000326873	human	ensembl	74_37	+1	known	missense	c.582	p.D194E	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	STK11	HGNC	ENSG00000118046
19	1220489	1220489	C	G	SNP	1	DOID:3247	Pancreatic	21189378				missense mutation	loss-of-function	activation	response	everolimus	case report	emerging	21189378																															STK11	ENST00000326873	human	ensembl	74_37	+1	known	missense	c.582	p.D194E	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	-	no_errors	STK11	HGNC	ENSG00000118046
19	3118942	3118942	A	C	SNP	1	DOID:1909	Melanoma	21083380,2549426,1328859,22733540,22808163	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/gna11/101	missense mutation	gain-of-function	activation	response	selumetinib	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr CRA9003)	response	PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	22733540, 22808163																										GNA11	ENST00000078429	human	ensembl	74_37	+1	known	missense	c.626	p.Q209P	1.000	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	-	no_errors	GNA11	HGNC	ENSG00000088256
19	3118942	3118942	A	T	SNP	1	DOID:1909	Melanoma	21083380,2549426,1328859,22733540,22808163	MyCancerGenome		http://www.mycancergenome.org/content/disease/melanoma/gna11/99	missense mutation	gain-of-function	activation	response	selumetinib	early trials	emerging	J Clin Oncol 2013;31: (suppl; abstr CRA9003)	response	PI3K pathway inhibitors + MEK inhibitors	preclinical	emerging	22733540, 22808163																										GNA11	ENST00000078429	human	ensembl	74_37	+1	known	missense	c.626	p.Q209L	1.000	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	-	no_errors	GNA11	HGNC	ENSG00000088256
19	4110581	4110581	T	C	SNP	1	DOID:1909	Melanoma	24265153				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	24265153	sensitivity	ERK inhibitors	preclinical	emerging	24265153																									MAP2K2	MAP2K2	ENST00000262948	human	ensembl	74_37	-1	known	missense	c.376	p.N126D	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K2	HGNC	ENSG00000126934
19	4110584	4110584	A	T	SNP	1	DOID:1909	Melanoma	24265153				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	24265153	sensitivity	ERK inhibitors	preclinical	emerging	24265153																									MAP2K2	MAP2K2	ENST00000262948	human	ensembl	74_37	-1	known	missense	c.373	p.C125S	1.000	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K2	HGNC	ENSG00000126934
19	4117541	4117541	T	G	SNP	1	DOID:1909	Melanoma	24265154				missense mutation	gain-of-function	activation	resistance	BRAF + MEK inhibitors	case report	emerging	24265154	sensitivity	ERK inhibitors	preclinical	emerging	24265154																									MAP2K2	MAP2K2	ENST00000262948	human	ensembl	74_37	-1	known	missense	c.179	p.Q60P	1.000	superfamily_Kinase-like_dom	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K2	HGNC	ENSG00000126934
19	4117584	4117584	G	A	SNP	1	DOID:1909	Melanoma	24265153				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	24265153	sensitivity	ERK inhibitors	preclinical	emerging	24265153																									MAP2K2	MAP2K2	ENST00000262948	human	ensembl	74_37	-1	known	missense	c.136	p.L46F	0.997	NULL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K2	HGNC	ENSG00000126934
19	4117617	4117617	C	T	SNP	1	DOID:1909	Melanoma	24265153				missense mutation	gain-of-function	activation	resistance	BRAF inhibitors, MEK inhibitors	preclinical	emerging	24265153	sensitivity	ERK inhibitors	preclinical	emerging	24265153																									MAP2K2	MAP2K2	ENST00000262948	human	ensembl	74_37	-1	known	missense	c.103	p.V35M	1.000	NULL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	MAP2K2	HGNC	ENSG00000126934
19	17945969	17945969	C	T	SNP	1	DOID:8761	Megakaryoblastic leukemia	18397343				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	18397343																														JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.1970	p.R657Q	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	17948006	17948006	G	A	SNP	1	DOID:0050743	Natural killer T cell lymphoma																																										JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.1718	p.A573V	0.995	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	17948009	17948009	G	A	SNP	1	DOID:0050743	Natural killer T cell lymphoma																																										JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.1715	p.A572V	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	17949138	17949138	C	A	SNP	1	DOID:8761	Megakaryoblastic leukemia	18397343				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	18397343																														JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.1503	p.Q501H	0.388	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	17949138	17949138	C	G	SNP	1	DOID:8761	Megakaryoblastic leukemia	18397343				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	18397343																														JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.1503	p.Q501H	0.388	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	17954634	17954634	A	G	SNP	1	DOID:8761	Megakaryoblastic leukemia	18397343				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	18397343																														JAK3	JAK3	ENST00000458235	human	ensembl	74_37	-1	known	missense	c.260	p.I87T	1.000	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	-	no_errors	JAK3	HGNC	ENSG00000105639
19	18271909	18271909	C	T	SNP	1	DOID:1380	Endometrial																																										PIK3R2	PIK3R2	ENST00000222254	human	ensembl	74_37	+1	known	missense	c.512	p.A171V	0.000	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	-	no_errors	PIK3R2	HGNC	ENSG00000105647
19	18278061	18278061	A	G	SNP	1	DOID:1380	Endometrial	21984976				missense mutation	loss-of-function	activation	sensitivity	mTOR inhibitors	preclinical	emerging	21984976																														PIK3R2	PIK3R2	ENST00000222254	human	ensembl	74_37	+1	known	missense	c.1681	p.N561D	1.000	prints_PI3kinase_P85	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	-	no_errors	PIK3R2	HGNC	ENSG00000105647
20	57484420	57484420	C	T	SNP	1	DOID:162	Cancer	21835143				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	21835143																										Jason Kunisaki	Reason: "These results confirmed thatGNASR201Cmutation activates the inflammatory pathway in HuH7 andHep3B cell lines.", "159T also exhibited a ß-catenin-activating mutation.All the 7 identified mutations (R201C, R201L and R201H,Table1) were heterozygous and they have been previously described toactivate Gsasubunit in MCA syndrome, and sporadic pituitary orthyroid adenoma[6]. TheGNASlocus is usually imprinted inendocrine tissues; consequently, pituitary, and thyroid tumorsonly expressed the mutatedGNASallele			GNAS	GNAS	ENST00000354359	human	ensembl	74_37	+1	known	missense	c.604	p.R202C	1.000	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	-	no_errors	GNAS	HGNC	ENSG00000087460
20	57484421	57484421	G	A	SNP	1	DOID:162	Cancer	21835143				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	21835143																										Jason Kunisaki	Reason: "These results confirmed thatGNASR201Cmutation activates the inflammatory pathway in HuH7 andHep3B cell lines.", "159T also exhibited a ß-catenin-activating mutation.All the 7 identified mutations (R201C, R201L and R201H,Table1) were heterozygous and they have been previously described toactivate Gsasubunit in MCA syndrome, and sporadic pituitary orthyroid adenoma[6]. TheGNASlocus is usually imprinted inendocrine tissues; consequently, pituitary, and thyroid tumorsonly expressed the mutatedGNASallele			GNAS	GNAS	ENST00000354359	human	ensembl	74_37	+1	known	missense	c.605	p.R202H	1.000	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	-	no_errors	GNAS	HGNC	ENSG00000087460
20	57484421	57484421	G	T	SNP	1	DOID:162	Cancer	21835143				missense mutation	gain-of-function	activation	sensitivity	JAK inhibitors	preclinical	emerging	21835143																										Jason Kunisaki	Reason: "These results confirmed thatGNASR201Cmutation activates the inflammatory pathway in HuH7 andHep3B cell lines.", "159T also exhibited a ß-catenin-activating mutation.All the 7 identified mutations (R201C, R201L and R201H,Table1) were heterozygous and they have been previously described toactivate Gsasubunit in MCA syndrome, and sporadic pituitary orthyroid adenoma[6]. TheGNASlocus is usually imprinted inendocrine tissues; consequently, pituitary, and thyroid tumorsonly expressed the mutatedGNASallele			GNAS	GNAS	ENST00000354359	human	ensembl	74_37	+1	known	missense	c.605	p.R202L	1.000	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	-	no_errors	GNAS	HGNC	ENSG00000087460
21	36231783	36231783	G	A	SNP	1	DOID:9119	AML	10508512		TimLey																																								RUNX1	ENST00000300305	human	ensembl	74_37	-1	known	nonsense	c.601	p.R201*	1.000	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	-	no_errors	RUNX1	HGNC	ENSG00000159216
21	36252876	36252876	C	A	SNP	1	DOID:9119	AML	24659740,24616160,24374719		TimLey																																								RUNX1	ENST00000300305	human	ensembl	74_37	-1	known	missense	c.486	p.R162S	1.000	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	-	no_errors	RUNX1	HGNC	ENSG00000159216
21	36252876	36252876	C	G	SNP	1	DOID:9119	AML	24659740,24616160,24374719		TimLey																																								RUNX1	ENST00000300305	human	ensembl	74_37	-1	known	missense	c.486	p.R162S	1.000	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	-	no_errors	RUNX1	HGNC	ENSG00000159216
21	36252877	36252877	C	T	SNP	1	DOID:9119	AML	24659740,19357396		TimLey																																								RUNX1	ENST00000300305	human	ensembl	74_37	-1	known	missense	c.485	p.R162K	1.000	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	-	no_errors	RUNX1	HGNC	ENSG00000159216
21	36252878	36252878	T	C	SNP	1	DOID:9119	AML	24659740,19357396		TimLey																																								RUNX1	ENST00000300305	human	ensembl	74_37	-1	known	missense	c.484	p.R162G	1.000	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	-	no_errors	RUNX1	HGNC	ENSG00000159216
21	44514777	44514777	T	C	SNP	1	DOID:9119	AML	22158538		TimLey																																								U2AF1	ENST00000291552	human	ensembl	74_37	-1	known	missense	c.470	p.Q157R	1.000	pfam_Znf_CCCH,smart_Znf_CCCH	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	-	no_errors	U2AF1	HGNC	ENSG00000160201
21	44514777	44514777	T	G	SNP	1	DOID:9119	AML	22158538		TimLey																																								U2AF1	ENST00000291552	human	ensembl	74_37	-1	known	missense	c.470	p.Q157P	1.000	pfam_Znf_CCCH,smart_Znf_CCCH	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	-	no_errors	U2AF1	HGNC	ENSG00000160201
21	44524456	44524456	G	A	SNP	1	DOID:9119	AML	22158538,24498085		TimLey																																								U2AF1	ENST00000291552	human	ensembl	74_37	-1	known	missense	c.101	p.S34F	1.000	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	-	no_errors	U2AF1	HGNC	ENSG00000160201
21	44524456	44524456	G	T	SNP	1	DOID:9119	AML	22158538,24498085		TimLey																																								U2AF1	ENST00000291552	human	ensembl	74_37	-1	known	missense	c.101	p.S34Y	1.000	pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	-	no_errors	U2AF1	HGNC	ENSG00000160201
X	1314966	1314966	A	C	SNP	1	DOID:1037	ALL	19907440,19965641,20018760,22368272	MyCancerGenome		http://www.mycancergenome.org/content/disease/acute-lymphoblastic-leukemia/crlf2/199																																							CRLF2	ENST00000381567	human	ensembl	74_37	-1	known	missense	c.695	p.F232C	0.004	NULL	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	-	no_errors	CRLF2	HGNC	ENSG00000205755
X	47426121	47426121	C	G	SNP	1	DOID:3910	Lung_adeno	24569458				missense mutation	gain-of-function	activation	response	sorafenib	case report	emerging	24569458																														ARAF	ARAF	ENST00000377045	human	ensembl	74_37	+1	known	missense	c.641	p.S214C	1.000	NULL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	-	no_errors	ARAF	HGNC	ENSG00000078061
X	100611164	100611164	C	G	SNP	1	DOID:1612	CLL	24869598				missense mutation	gain-of-function	activation	resistance	ibrutinib	early trials	emerging	24869598																															BTK	ENST00000308731	human	ensembl	74_37	-1	known	missense	c.1442	p.C481S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	-	no_errors	BTK	HGNC	ENSG00000010671
X	100611165	100611165	A	T	SNP	1	DOID:1612	CLL	24869598				missense mutation	gain-of-function	activation	resistance	ibrutinib	early trials	emerging	24869598																															BTK	ENST00000308731	human	ensembl	74_37	-1	known	missense	c.1441	p.C481S	1.000	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	-	no_errors	BTK	HGNC	ENSG00000010671