uniprotkb_accession	gene_name	protein_name	data_source	dbsnp_id	cosmic_id	description	evidence_ECO:0000269	evidence_ECO:0000313	cytogenic_band	chromosome_id	position	ref_allele	alt_allele	ref_aa	alt_aa	begin_aa_pos	end_aa_pos	frequency	mutation_type	polyphen_score	polyphen_prediction	sift_score	sift_prediction	somatic_status	disease	disease_description	disease_xrefs	disease_evidence_ECO:0000269	disease_evidence_ECO:0000313	
P01116	KRAS	GTPase KRas	dbSNP	rs2141509791					12p12.1	12	25227313_25227354	p	null	TAGQEEYSAMRDQY	null	58	71		insertion					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510210					12p12.1	12	25227352	C	null	T	A	58	58		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein	pubmed:16474405,pubmed:19396835	pubmed:16474405,pubmed:19396835	12p12.1	12	25227351	A	null	T	I	58	58		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein	pubmed:16474405,pubmed:19396835	pubmed:16474405,pubmed:19396835	12p12.1	12	25227351	A	null	T	I	58	58		missense					1	Noonan syndrome (NS)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:PS163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV000211785	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein	pubmed:16474405,pubmed:19396835	pubmed:16474405,pubmed:19396835	12p12.1	12	25227351	A	null	T	I	58	58		missense					1	Noonan syndrome 3 (NS3)	A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.	MIM:609942	pubmed:16474405,pubmed:16773572,pubmed:17056636,pubmed:17468812,pubmed:19396835,pubmed:20949621		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein	pubmed:16474405,pubmed:19396835	pubmed:16474405,pubmed:19396835	12p12.1	12	25227351	A	null	T	I	58	58		missense					1	Noonan syndrome 3 (NS3)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:609942		pubmed:20301303,pubmed:20876176,ClinVar:RCV000013419	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein	pubmed:16474405,pubmed:19396835	pubmed:16474405,pubmed:19396835	12p12.1	12	25227351	A	null	T	I	58	58		missense					1	RASopathy				ClinVar:RCV000704828	
P01116	KRAS	GTPase KRas	Ensembl	rs104894364		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25227351	C	null	T	R	58	58		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510210					12p12.1	12	25227352	A	null	T	S	58	58		missense			0.0	deleterious - low confidence	0