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	TOPMed	rs1951664697					12p12.1	12	25245380	C	null	T	S	2	2		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806400					12p12.1	12	25245381	A	null	T	S	2	2		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806390					12p12.1	12	25245376	A	null	E	D	3	3		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense					1	Gliomas	From tissue: Brain, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense					1	KRAS-related disorder				ClinVar:RCV004549360	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		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:RCV000605141	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		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	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		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:RCV000013427	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense					1	Prostate cancer, hereditary, 1 (HPC1)		MIM:601518		pubmed:25394175,pubmed:31829902,pubmed:35924163,ClinVar:RCV002291547	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense					1	RASopathy				ClinVar:RCV000149836	
P01116	KRAS	GTPase KRas	Ensembl	rs2135806379					12p12.1	12	25245371	A	null	K	I	5	5		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013425	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV000623267	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	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:RCV000520745	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	gnomAD	rs1296330213					12p12.1	12	25245369	T	null	L	I	6	6		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806364					12p12.1	12	25245368	G	null	L	P	6	6		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs1296330213		[ClinVar]: RASopathy			12p12.1	12	25245369	C	null	L	V	6	6		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001341946	
P01116	KRAS	GTPase KRas	Ensembl	rs2135806346					12p12.1	12	25245365	T	null	V	E	7	7		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806349					12p12.1	12	25245366	G	null	V	L	7	7		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135806349					12p12.1	12	25245366	T	null	V	M	7	7		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135806332					12p12.1	12	25245363	T	null	V	I	8	8		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806332					12p12.1	12	25245363	A	null	V	L	8	8		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806320					12p12.1	12	25245359	G	null	V	A	9	9		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806320					12p12.1	12	25245359	C	null	V	G	9	9		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951664416					12p12.1	12	25245360	T	null	V	I	9	9		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs1951664416					12p12.1	12	25245360	G	null	V	L	9	9		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806313					12p12.1	12	25245357	A	null	G	*	10	10		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806301					12p12.1	12	25245356	G	null	G	A	10	10		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP	rs606231202		[UniProt]: AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate, [ClinVar]: Acute myeloid leukemia	pubmed:8955068	pubmed:8955068	12p12.1	12	25245356_25245358	p	null	G	GG	10	10		insertion					1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000013415	
P01116	KRAS	GTPase KRas	dbSNP	rs606231202		[UniProt]: AML; expression in 3T3 cell causes cellular transformation; expression in COS cells activates the Ras-MAPK signaling pathway; lower GTPase activity; faster GDP dissociation rate, [ClinVar]: Acute myeloid leukemia	pubmed:8955068	pubmed:8955068	12p12.1	12	25245356_25245358	p	null	G	GG	10	10		insertion					1	Leukemia, acute myelogenous (AML)	A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.	MIM:601626	pubmed:8955068		
P01116	KRAS	GTPase KRas	Ensembl	rs2135806313					12p12.1	12	25245357	T	null	G	R	10	10		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806301					12p12.1	12	25245356	A	null	G	V	10	10		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806273					12p12.1	12	25245353	C	null	A	G	11	11		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	dbSNP	rs1064796748					12p12.1	12	25245353_25245354ins	C	null	A	GP	11	11		-					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806273					12p12.1	12	25245353	A	null	A	V	11	11		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Esophagus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas					
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Connective, subcutaneous and other soft tissues of abdomen				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Corpus uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Gallbladder cancer				ClinVar:RCV001374446	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Gastric cancer		MIM:613659		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	KRAS-related disorder				ClinVar:RCV004549454	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996396,ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984117	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668758	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038266	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		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:RCV004795958	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245350	G	null	G	A	12	12		missense					1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV004795958	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135806256					12p12.1	12	25245351_25245352delin	G	null	G	C	12	12		missense					0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas					
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Unknown				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS;Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Main bronchus				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Splenic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Endometrial carcinoma		MIM:608089		pubmed:24493721,pubmed:24905773,pubmed:24929052,pubmed:33451724,pubmed:33516529,ClinVar:RCV000119791	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Gallbladder cancer				ClinVar:RCV001292543	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Lung adenocarcinoma				pubmed:23562183,pubmed:24627688,pubmed:25311215,pubmed:29355391,pubmed:29398453,ClinVar:RCV000431049	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996092	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Lung carcinoma				pubmed:23562183,pubmed:23667368,pubmed:24627688,pubmed:24846033,pubmed:25311215,pubmed:29355391,pubmed:29398453,pubmed:30813707,ClinVar:RCV000013406	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Mesothelial Neoplasms	From tissue: Pleura, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668721	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038265	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	RASopathy				ClinVar:RCV003654176	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351	A	null	G	C	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000433573,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas					
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Fundus of stomach				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Not Reported;Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Overlapping lesion of lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Extrahepatic bile duct				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Stomach, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Liver				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Prostate gland				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Atypical endometrial hyperplasia				ClinVar:RCV003327361	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144970,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Capillary malformation-arteriovenous malformation 1 (CMAVM1)	Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs.	MIM:608354		pubmed:21348050,ClinVar:RCV001799604	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000013411	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV000585796,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Colorectal Cancer	While the KRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still actively debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort in patients with colorectal and pancreatic cancer, however this hypothesis is in need of further validation. This mutation, along with the mutations affecting the neighboring G13 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations. Overall, the interpretation for KRAS mutations in most clinical scenarios is still undecided.	MIM:114500	pubmed:11050000,pubmed:12483530,pubmed:16497971,pubmed:17409929,pubmed:18316791,pubmed:19029981,pubmed:19223544,pubmed:19284554,pubmed:20619739,pubmed:22025163,pubmed:22246397,pubmed:22392911,pubmed:22948721,pubmed:23014527,pubmed:23524406,pubmed:23565280,pubmed:24265155,pubmed:26161928,pubmed:26352686,pubmed:27010960,pubmed:27010960,pubmed:27959684	Civic:79	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Complex Epithelial Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Kidney, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Corpus uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Congenital Pulmonary Airway Malformations				ClinVar:RCV004554600	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary;Ovary				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS;Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Body of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Tail of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839445	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Endometrial hyperplasia without atypia				ClinVar:RCV003327361	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Epidermal nevus	PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia.	MIM:162900		pubmed:23946963,ClinVar:RCV000022799	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Gastric cancer		MIM:613659		ClinVar:RCV002508117,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Gliomas	From tissue: Brain, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144969	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV000029215,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Lymphoid Leukemias	From tissue: Blood				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668724	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Neoplasms, NOS	From tissue: Breast, NOS;Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150896	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		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:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Ovarian neoplasm				pubmed:19042984,pubmed:22964825,pubmed:23188549,pubmed:29450531,pubmed:33410258,ClinVar:RCV000150897	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Primary low grade serous adenocarcinoma of ovary				ClinVar:RCV000856666	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	RASopathy				ClinVar:RCV000548006	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Schimmelpenning-Feuerstein-Mims syndrome (SFM)	A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.	MIM:163200	pubmed:30891959		
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005007840	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Lateral wall of bladder				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense					1	Vascular Tumors Including Pyogenic Granuloma				ClinVar:RCV000662266	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenoid cystic carcinoma				ClinVar:RCV004813033	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Extrahepatic bile duct				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Prostate gland				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Intrahepatic bile duct				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Body of pancreas				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV000013408	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668722	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154401	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	RASopathy				ClinVar:RCV002513010	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Squamous cell lung carcinoma				ClinVar:RCV000013407	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245351	G	null	G	R	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Lateral wall of bladder				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of pancreas				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Fundus of stomach				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004795403	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Gastric cancer		MIM:613659		ClinVar:RCV000013414	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144971	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668726	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038264	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Ovarian neoplasm				pubmed:19042984,pubmed:22964825,pubmed:23188549,pubmed:29450531,pubmed:33410258,ClinVar:RCV000119790	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	RASopathy				ClinVar:RCV001851824	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense					1	Vascular malformation				ClinVar:RCV004562205	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Acinar Cell Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas					
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Extrahepatic bile duct;Extrahepatic bile duct				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Overlapping lesion of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Splenic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Descending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Fundus uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Thyroid gland				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Adenomas and Adenocarcinomas	From tissue: Tail of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000013413	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV000585801	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Chronic myelogenous leukemia, BCR-ABL1 positive (CML)		MIM:608232		pubmed:24976289,ClinVar:RCV002291496	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Complex Mixed and Stromal Neoplasms	From tissue: Corpus uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Descending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Tail of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Ductal and Lobular Neoplasms	From tissue: Body of pancreas				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Epithelial Neoplasms, NOS	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000150895	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV003455987	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Lung sarcomatoid carcinoma				ClinVar:RCV003322589	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668725	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Neoplasms, NOS	From tissue: Overlapping lesion of colon				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Neoplasms, NOS	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154262	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Osseous and Chondromatous Neoplasms	From tissue: Not Reported				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	RASopathy				ClinVar:RCV003539760	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Lateral wall of bladder				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245350	A	null	G	V	12	12		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116	KRAS	GTPase KRas	gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml)			12p12.1	12	25245347	G	null	G	A	13	13		missense			0.04	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas					
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144972	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	KRAS-related disorder				ClinVar:RCV003335071	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038268	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348	A	null	G	C	13	13		missense	0.997	probably damaging	0.02	deleterious	1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Liver				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Descending colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Fundus of stomach				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Stomach, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Splenic flexure of colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144968	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Breast adenocarcinoma				ClinVar:RCV000013409	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Chronic Myeloproliferative Disorders	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839444	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004813034	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266168	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144967	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	KRAS-related disorder				ClinVar:RCV004549358	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Lymphoid Leukemias	From tissue: Blood				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668723	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Neoplasms, NOS	From tissue: Colon, NOS;Cervix uteri				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038269	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813183	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791297	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	RASopathy				ClinVar:RCV001857340	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense					1	Transitional Cell Papillomas and Carcinomas	From tissue: Posterior wall of bladder				
P01116	KRAS	GTPase KRas	Ensembl	rs2135806127					12p12.1	12	25245345_25245347delins	T	null	GV	DI	13	14		missense					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806161					12p12.1	12	25245346_25245348delins	G	null	G	R	13	13		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense					1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense					1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038267	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense					1	Pilocytic astrocytoma				ClinVar:RCV000013424	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP	rs2135806200					12p12.1	12	25245348_25245349delin	C	null	G	R	13	13		missense					1						
P01116	KRAS	GTPase KRas	gnomAD	rs121913535					12p12.1	12	25245348	T	null	G	S	13	13		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245347	A	null	G	V	13	13		missense	0.98	probably damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245347	A	null	G	V	13	13		missense	0.98	probably damaging	0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038270	
P01116	KRAS	GTPase KRas	Ensembl	rs2135806110					12p12.1	12	25245344	T	null	V	E	14	14		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806110					12p12.1	12	25245344	C	null	V	G	14	14		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000844637	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Endometrial carcinoma		MIM:608089		pubmed:24493721,pubmed:24905773,pubmed:24929052,pubmed:33451724,pubmed:33516529,ClinVar:RCV000119792	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266727	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		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:RCV000521254,ClinVar:RCV000844637	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		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	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		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:RCV000013420	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813184	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	RASopathy				ClinVar:RCV000157945	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense					1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs104894365		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25245345	G	null	V	L	14	14		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs1555195579					12p12.1	12	25245341	G	null	G	A	15	15		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1555195579					12p12.1	12	25245341	T	null	G	D	15	15		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806091					12p12.1	12	25245342	G	null	G	R	15	15		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806091					12p12.1	12	25245342	T	null	G	S	15	15		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1555195579					12p12.1	12	25245341	A	null	G	V	15	15		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806070					12p12.1	12	25245337	G	null	K	N	16	16		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951663808					12p12.1	12	25245335	T	null	S	N	17	17		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs776785730					12p12.1	12	25245334	T	null	S	R	17	17		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951663808					12p12.1	12	25245335	G	null	S	T	17	17		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806030					12p12.1	12	25245332	C	null	A	G	18	18		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806040					12p12.1	12	25245333	G	null	A	P	18	18		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135806040					12p12.1	12	25245333	T	null	A	T	18	18		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135806030		[ClinVar]: Noonan syndrome 3			12p12.1	12	25245332	A	null	A	V	18	18		missense			0.0	deleterious - low confidence	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:RCV002264903	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Mature B-Cell Lymphomas	From tissue: Stomach, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668928	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow From tissue: Blood				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung From tissue: Upper lobe, lung From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839449	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000201922	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	RASopathy				ClinVar:RCV003654222	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs121913538		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis, [UniProt]: OES; somatic mutation, [ClinVar]: Neoplasm	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	G	null	L	F	19	19		missense	0.999	probably damaging	0.01	deleterious	1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs771188508					12p12.1	12	25245330	T	null	L	M	19	19		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135806003		[ClinVar]: Cardiofaciocutaneous syndrome 2			12p12.1	12	25245327	C	null	T	A	20	20		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV001420539	
P01116	KRAS	GTPase KRas	Ensembl	rs2135805997					12p12.1	12	25245326	A	null	T	M	20	20		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805997		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245326	C	null	T	R	20	20		missense	1.0	probably damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	Ensembl	rs2135806003					12p12.1	12	25245327	A	null	T	S	20	20		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805986					12p12.1	12	25245324	A	null	I	L	21	21		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805981		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245323	C	null	I	R	21	21		missense	0.985	probably damaging	0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	Ensembl	rs121913236					12p12.1	12	25245321	A	null	Q	*	22	22		missense					1	Colon Mucinous Adenocarcinoma			pubmed:19661358	Civic:479	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[ClinVar]: RASopathy, [UniProt]: CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors	pubmed:17056636,pubmed:20949621		12p12.1	12	25245321	C	null	Q	E	22	22		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[ClinVar]: RASopathy, [UniProt]: CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors	pubmed:17056636,pubmed:20949621		12p12.1	12	25245321	C	null	Q	E	22	22		missense					0	RASopathy				ClinVar:RCV000654936	
P01116	KRAS	GTPase KRas	gnomAD	rs1951663491					12p12.1	12	25245319	G	null	Q	H	22	22		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Esophagus, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV001078206	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Mature B-Cell Lymphomas	From tissue: Intra-abdominal lymph nodes				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense	0.982	probably damaging	0.01	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25245320	A	null	Q	L	22	22		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000576784,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Gastric cancer		MIM:613659		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Hereditary diffuse gastric adenocarcinoma (HDGC)	Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass.	MIM:137215		pubmed:17392385,pubmed:20065170,pubmed:20301318,pubmed:22388873,pubmed:25394175,pubmed:25645574,pubmed:26324357,pubmed:26389210,pubmed:26389258,pubmed:32758476,ClinVar:RCV001253410	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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:RCV000150893	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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:RCV000576784,ClinVar:RCV001095664,ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	RASopathy				ClinVar:RCV000157946	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV003224112	
P01116	KRAS	GTPase KRas	Ensembl	rs730880472					12p12.1	12	25245317	T	null	L	Q	23	23		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880472		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245317	C	null	L	R	23	23		missense	0.997	probably damaging	0.05	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880472		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245317	C	null	L	R	23	23		missense	0.997	probably damaging	0.05	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2135805957					12p12.1	12	25245318	C	null	L	V	23	23		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805949					12p12.1	12	25245315	A	null	I	F	24	24		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805942		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245314	T	null	I	N	24	24		missense	0.992	probably damaging	0.0	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2135805942		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245314	T	null	I	N	24	24		missense	0.992	probably damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs1951663379					12p12.1	12	25245312	A	null	Q	*	25	25		missense					1						
P01116	KRAS	GTPase KRas	Ensembl	rs1951663379					12p12.1	12	25245312	C	null	Q	E	25	25		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805909					12p12.1	12	25245310	G	null	Q	H	25	25		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2135805919					12p12.1	12	25245311	C	null	Q	R	25	25		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP	rs2135805870					12p12.1	12	25245308_25245313	l	null	QN	null	25	26		inframe deletion					0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs794727277		[ClinVar]: Noonan syndrome 3			12p12.1	12	25245309	G	null	N	H	26	26		missense			0.01	deleterious - low confidence	0	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:RCV001808080	
P01116	KRAS	GTPase KRas	Ensembl	rs2135805894					12p12.1	12	25245308	A	null	N	I	26	26		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805889					12p12.1	12	25245307	T	null	N	K	26	26		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs794727277					12p12.1	12	25245309	A	null	N	Y	26	26		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805878					12p12.1	12	25245306	C	null	H	D	27	27		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805862					12p12.1	12	25245305	A	null	H	L	27	27		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805878					12p12.1	12	25245306	A	null	H	Y	27	27		missense			0.06	tolerated - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805859					12p12.1	12	25245299	T	null	V	E	29	29		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ExAC,TOPMed,gnomAD	rs113623140					12p12.1	12	25245295	C	null	D	E	30	30		missense			0.09	tolerated - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805846					12p12.1	12	25245297	G	null	D	H	30	30		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805846		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245297	T	null	D	N	30	30		missense	0.843	possibly damaging	0.0	deleterious - low confidence	0	Nevi and Melanomas	From tissue: Skin, NOS;Skin, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2135805846					12p12.1	12	25245297	A	null	D	Y	30	30		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805818					12p12.1	12	25245294	T	null	E	K	31	31		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805818					12p12.1	12	25245294	G	null	E	Q	31	31		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805795					12p12.1	12	25245289	T	null	Y	*	32	32		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805801					12p12.1	12	25245291	C	null	Y	D	32	32		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805801					12p12.1	12	25245291	T	null	Y	N	32	32		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805765		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245286	T	null	D	E	33	33		missense	0.979	probably damaging	0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	G	null	D	H	33	33		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	T	null	D	N	33	33		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805772					12p12.1	12	25245287	A	null	D	V	33	33		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	A	null	D	Y	33	33		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805755					12p12.1	12	25245285	C	null	P	A	34	34		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		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:RCV000150892	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense					1	Noonan syndrome 1 (NS1)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV003450654	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		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	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		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:RCV003152670	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense					1	RASopathy				ClinVar:RCV000232330	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3)	pubmed:17056636		12p12.1	12	25245284	T	null	P	Q	34	34		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	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000850569	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000850569	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000211723	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000043674,ClinVar:RCV000850569	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		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:RCV000211723	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		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:RCV000850569	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense					1	RASopathy				ClinVar:RCV001851825	
P01116	KRAS	GTPase KRas	Ensembl	rs2135805755					12p12.1	12	25245285	A	null	P	S	34	34		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805755		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245285	T	null	P	T	34	34		missense	1.0	probably damaging	0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2135805739					12p12.1	12	25245282	C	null	T	A	35	35		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805733					12p12.1	12	25245281	T	null	T	K	35	35		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805733					12p12.1	12	25245281	C	null	T	R	35	35		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805713					12p12.1	12	25245278	T	null	I	K	36	36		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense					1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000844636	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense					1	Cardiofaciocutaneous syndrome 1 (CFC1)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:115150		pubmed:20301365,pubmed:25173338,ClinVar:RCV000856729	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense					1	KRAS-related disorder				ClinVar:RCV004551310	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		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:RCV000844636	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		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	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense					1	RASopathy				ClinVar:RCV000150891	
P01116	KRAS	GTPase KRas	Ensembl	rs2135805722					12p12.1	12	25245279	C	null	I	V	36	36		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805691					12p12.1	12	25245274	G	null	E	D	37	37		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805697					12p12.1	12	25245276	T	null	E	K	37	37		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2135805697					12p12.1	12	25245276	G	null	E	Q	37	37		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510577					12p12.1	12	25227410	T	null	D	E	38	38		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	G	null	D	H	38	38		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	T	null	D	N	38	38		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510582					12p12.1	12	25227411	A	null	D	V	38	38		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	A	null	D	Y	38	38		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510561					12p12.1	12	25227408	C	null	S	C	39	39		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510561					12p12.1	12	25227408	A	null	S	F	39	39		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510572					12p12.1	12	25227409	T	null	S	T	39	39		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510540					12p12.1	12	25227404	C	null	Y	*	40	40		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510546					12p12.1	12	25227406	G	null	Y	H	40	40		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510521					12p12.1	12	25227401	G	null	R	S	41	41		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510533					12p12.1	12	25227402	G	null	R	T	41	41		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510517					12p12.1	12	25227398	A	null	K	N	42	42		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510513					12p12.1	12	25227397	A	null	Q	*	43	43		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510513					12p12.1	12	25227397	C	null	Q	E	43	43		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510506					12p12.1	12	25227396	A	null	Q	L	43	43		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	G	null	V	A	44	44		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	T	null	V	E	44	44		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	C	null	V	G	44	44		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510495					12p12.1	12	25227394	T	null	V	I	44	44		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510495					12p12.1	12	25227394	G	null	V	L	44	44		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510470					12p12.1	12	25227390	T	null	V	E	45	45		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510473					12p12.1	12	25227391	G	null	V	L	45	45		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510457					12p12.1	12	25227388	G	null	I	L	46	46		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs904755552					12p12.1	12	25227386	C	null	I	M	46	46		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1565885006					12p12.1	12	25227384	C	null	D	G	47	47		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	G	null	D	H	47	47		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	T	null	D	N	47	47		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565885006					12p12.1	12	25227384	A	null	D	V	47	47		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	A	null	D	Y	47	47		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510419					12p12.1	12	25227382	A	null	G	*	48	48		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	G	null	G	A	48	48		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	T	null	G	E	48	48		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510419					12p12.1	12	25227382	G	null	G	R	48	48		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	A	null	G	V	48	48		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510389					12p12.1	12	25227377	A	null	E	D	49	49		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510396					12p12.1	12	25227379	T	null	E	K	49	49		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510396					12p12.1	12	25227379	G	null	E	Q	49	49		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880470		[ClinVar]: RASopathy			12p12.1	12	25227376	C	null	T	A	50	50		missense			0.02	deleterious - low confidence	1	RASopathy				ClinVar:RCV000707607	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs1407509439					12p12.1	12	25227375	A	null	T	I	50	50		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs730880470					12p12.1	12	25227376	G	null	T	P	50	50		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	gnomAD	rs1407509439					12p12.1	12	25227375	C	null	T	S	50	50		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880470					12p12.1	12	25227376	A	null	T	S	50	50		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510348					12p12.1	12	25227371	T	null	C	*	51	51		missense					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	A	null	C	F	51	51		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510359					12p12.1	12	25227373	G	null	C	R	51	51		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	G	null	C	S	51	51		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	T	null	C	Y	51	51		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1555194041		[ClinVar]: RASopathy			12p12.1	12	25227370	A	null	L	F	52	52		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000654951	
P01116	KRAS	GTPase KRas	Ensembl	rs2141510335					12p12.1	12	25227369	T	null	L	H	52	52		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1555194041					12p12.1	12	25227370	C	null	L	V	52	52		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510313					12p12.1	12	25227366	T	null	L	*	53	53		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510303					12p12.1	12	25227365	A	null	L	F	53	53		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510317					12p12.1	12	25227367	T	null	L	M	53	53		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510291					12p12.1	12	25227362	T	null	D	E	54	54		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	G	null	D	H	54	54		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	T	null	D	N	54	54		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	A	null	D	Y	54	54		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510288					12p12.1	12	25227361	A	null	I	F	55	55		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951406889		[ClinVar]: Noonan syndrome			12p12.1	12	25227360	C	null	I	S	55	55		missense			0.0	deleterious - low confidence	0	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:RCV001261056	
P01116	KRAS	GTPase KRas	Ensembl	rs2141510288					12p12.1	12	25227361	C	null	I	V	55	55		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	A	null	L	F	56	56		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510248					12p12.1	12	25227357	T	null	L	H	56	56		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	T	null	L	I	56	56		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510248					12p12.1	12	25227357	G	null	L	P	56	56		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	C	null	L	V	56	56		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951406780					12p12.1	12	25227353	C	null	D	E	57	57		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510226					12p12.1	12	25227354	C	null	D	G	57	57		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510230					12p12.1	12	25227355	G	null	D	H	57	57		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510230		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227355	T	null	D	N	57	57		missense	0.992	probably damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510226					12p12.1	12	25227354	A	null	D	V	57	57		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510230					12p12.1	12	25227355	A	null	D	Y	57	57		missense			0.0	deleterious - low confidence	1						
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						
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense	0.999	probably damaging	0.02	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense	0.999	probably damaging	0.02	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense	0.999	probably damaging	0.02	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense	0.999	probably damaging	0.02	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	C	null	A	G	59	59		missense	0.418	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116	KRAS	GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	C	null	A	G	59	59		missense	0.418	benign	0.01	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs121913528					12p12.1	12	25227349	G	null	A	P	59	59		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227349	A	null	A	S	59	59		missense	0.774	possibly damaging	0.04	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Bladder cancer, transitional cell, somatic				ClinVar:RCV000013410	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs104886029		[ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	A	null	A	V	59	59		missense	0.972	probably damaging	0.0	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV000119371	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs104886029		[ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	A	null	A	V	59	59		missense	0.972	probably damaging	0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	gnomAD	rs727503108					12p12.1	12	25227345	G	null	G	A	60	60		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs104894359		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25227346	A	null	G	C	60	60		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000521390,ClinVar:RCV000844635	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013416	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267316	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		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:RCV000844635	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		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:RCV003313917	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	RASopathy				ClinVar:RCV000157935	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV002470709	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		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	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		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:RCV000013428	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		missense					1	RASopathy				ClinVar:RCV000689097	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000157936	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150889	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	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:RCV000157936	
P01116	KRAS	GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV001850055	
P01116	KRAS	GTPase KRas	Ensembl	rs121913238					12p12.1	12	25227343	A	null	Q	*	61	61		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	C	null	Q	E	61	61		missense	0.509	possibly damaging	0.0	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Unknown primary site				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	C	null	Q	E	61	61		missense	0.509	possibly damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Prostate gland				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV001004043	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668811	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Primary intracranial sarcoma, DICER1-mutant				ClinVar:RCV004698422	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	RASopathy				ClinVar:RCV002514970	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Not Reported;Colon, NOS From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV003445113	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Endometrium From tissue: Unknown primary site				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Myomatous Neoplasms	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154530,ClinVar:RCV000038259	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs17851045		[ClinVar]: Cerebral arteriovenous malformation, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	A	null	Q	H	61	61		missense	0.121	benign	0.0	deleterious	1	Transitional Cell Papillomas and Carcinomas	From tissue: Posterior wall of bladder				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510126					12p12.1	12	25227343_25227344delin	T	null	Q	K	61	61		missense					0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Thyroid gland				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Intrahepatic bile duct				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Colorectal Cancer		MIM:114500	pubmed:20619739	Civic:910	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154402	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	T	null	Q	K	61	61		missense	0.083	benign	0.01	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Medullary thyroid carcinoma (MTC)				pubmed:19469690,pubmed:20664475,pubmed:24493721,pubmed:25810047,ClinVar:RCV004813050	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984128	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668757	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038258	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227342	A	null	Q	L	61	61		missense	0.631	possibly damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227342	G	null	Q	P	61	61		missense	0.168	benign	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227342	G	null	Q	P	61	61		missense	0.168	benign	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227342	G	null	Q	P	61	61		missense	0.168	benign	0.0	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510086					12p12.1	12	25227341_25227342delin	C	null	Q	R	61	61		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Adenomas and Adenocarcinomas	From tissue: Thyroid gland				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Colorectal Cancer		MIM:114500	pubmed:20619739	Civic:909	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996395	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668756	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		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:RCV000038257	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813342	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense					1	RASopathy				ClinVar:RCV001209740	
P01116	KRAS	GTPase KRas	Ensembl	rs2141510060					12p12.1	12	25227340	A	null	E	*	62	62		stop gained					0						
P01116	KRAS	GTPase KRas	TOPMed	rs1407455199					12p12.1	12	25227338	G	null	E	D	62	62		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141510060		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227340	T	null	E	K	62	62		missense	0.669	possibly damaging	0.01	deleterious	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510060		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227340	T	null	E	K	62	62		missense	0.669	possibly damaging	0.01	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510060					12p12.1	12	25227340	G	null	E	Q	62	62		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Gastric cancer		MIM:613659		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	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:RCV005008064	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	RASopathy				ClinVar:RCV000157931	
P01116	KRAS	GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005008064	
P01116	KRAS	GTPase KRas	Ensembl	rs2141510034					12p12.1	12	25227337	A	null	E	*	63	63		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1592808357		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227335	G	null	E	D	63	63		missense			0.0	deleterious - low confidence	0	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:RCV004789187	
P01116	KRAS	GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense	0.904	possibly damaging	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense	0.904	possibly damaging	0.0	deleterious	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense	0.904	possibly damaging	0.0	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141510034					12p12.1	12	25227337	G	null	E	Q	63	63		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509990					12p12.1	12	25227332	C	null	Y	*	64	64		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951405964					12p12.1	12	25227333	C	null	Y	C	64	64		missense			0.05	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951405995		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	C	null	Y	D	64	64		missense	0.991	probably damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs1951405964					12p12.1	12	25227333	A	null	Y	F	64	64		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951405995		[ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	T	null	Y	N	64	64		missense	0.991	probably damaging	0.0	deleterious	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267233	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951405995		[ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	T	null	Y	N	64	64		missense	0.991	probably damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	dbSNP	rs2141509973		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227336_25227337insGGTCCCTCATTGCCCTGT	T	null	YS	RAMRDQY	64	65		insertion					0	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:RCV002264904	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951405964		[ClinVar]: Inborn genetic diseases			12p12.1	12	25227333	G	null	Y	S	64	64		missense			0.0	deleterious - low confidence	0	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266427	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509984					12p12.1	12	25227331	A	null	S	C	65	65		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1555194026		[ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy			12p12.1	12	25227330	A	null	S	I	65	65		missense			0.0	deleterious - low confidence	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:RCV000505640	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1555194026		[ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy			12p12.1	12	25227330	A	null	S	I	65	65		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000680027	
P01116	KRAS	GTPase KRas	Ensembl	rs1555194026					12p12.1	12	25227330	T	null	S	N	65	65		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509952					12p12.1	12	25227329	C	null	S	R	65	65		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1555194026					12p12.1	12	25227330	G	null	S	T	65	65		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP	rs2141509932		[ClinVar]: Capillary Telangiectasia, Brain			12p12.1	12	25227326_25227327insAGCAGG	A	null	AM	DLL	66	67		insertion					1	Capillary Telangiectasia, Brain				ClinVar:RCV001526874	
P01116	KRAS	GTPase KRas	dbSNP	rs2141509708					12p12.1	12	25227303_25227329	p	null	AMRDQYMRT	null	66	74		insertion					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509937					12p12.1	12	25227327	C	null	A	G	66	66		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951405901					12p12.1	12	25227328	G	null	A	P	66	66		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951405901		[ClinVar]: Inborn genetic diseases			12p12.1	12	25227328	A	null	A	S	66	66		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266428	
P01116	KRAS	GTPase KRas	Ensembl	rs1951405901					12p12.1	12	25227328	T	null	A	T	66	66		missense			0.05	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509937					12p12.1	12	25227327	A	null	A	V	66	66		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509890					12p12.1	12	25227323	A	null	M	I	67	67		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509906					12p12.1	12	25227324	T	null	M	K	67	67		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509914					12p12.1	12	25227325	A	null	M	L	67	67		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509906					12p12.1	12	25227324	C	null	M	R	67	67		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509873					12p12.1	12	25227321	T	null	R	K	68	68		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509883					12p12.1	12	25227322	A	null	R	W	68	68		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	dbSNP	rs1951405809		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227321_25227323	l	null	R	null	68	68		inframe deletion					0	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:RCV001264745	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509873		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227321	A	null	R	M	68	68		missense	1.0	probably damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Liver				
P01116	KRAS	GTPase KRas	Ensembl	rs2141509873					12p12.1	12	25227321	G	null	R	T	68	68		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509837					12p12.1	12	25227317	T	null	D	E	69	69		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	G	null	D	H	69	69		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	T	null	D	N	69	69		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509846					12p12.1	12	25227318	A	null	D	V	69	69		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	A	null	D	Y	69	69		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	A	null	Q	*	70	70		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	C	null	Q	E	70	70		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs780492744					12p12.1	12	25227314	G	null	Q	H	70	70		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	T	null	Q	K	70	70		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509796					12p12.1	12	25227311	C	null	Y	*	71	71		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs387907205		[ClinVar]: Cardio-facio-cutaneous syndrome			12p12.1	12	25227313	C	null	Y	D	71	71		missense			0.0	deleterious - low confidence	0	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000221667	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509802					12p12.1	12	25227312	A	null	Y	F	71	71		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs387907205		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25227313	G	null	Y	H	71	71		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs387907205		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25227313	G	null	Y	H	71	71		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000024617	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509802					12p12.1	12	25227312	G	null	Y	S	71	71		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs104886028		[ClinVar]: Sarcoma			12p12.1	12	25227308	T	null	M	I	72	72		missense			0.05	tolerated - low confidence	1	Sarcoma				ClinVar:RCV000119372	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509775					12p12.1	12	25227309	T	null	M	K	72	72		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727504662		[ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25227310	G	null	M	L	72	72		missense			0.03	deleterious - low confidence	0	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:RCV000155926	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727504662		[ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25227310	G	null	M	L	72	72		missense			0.03	deleterious - low confidence	0	RASopathy				ClinVar:RCV001857536,ClinVar:RCV001315183	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509753					12p12.1	12	25227307	C	null	R	G	73	73		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	T	null	R	K	73	73		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	A	null	R	M	73	73		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs104886027					12p12.1	12	25227305	G	null	R	S	73	73		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	G	null	R	T	73	73		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509753					12p12.1	12	25227307	A	null	R	W	73	73		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs770020203					12p12.1	12	25227304	C	null	T	A	74	74		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951405479		[ClinVar]: Noonan syndrome			12p12.1	12	25227303	A	null	T	I	74	74		missense			0.03	deleterious - low confidence	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:RCV001261057	
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs770020203		[ClinVar]: Non-immune hydrops fetalis			12p12.1	12	25227304	G	null	T	P	74	74		missense			0.0	deleterious - low confidence	1	Non-immune hydrops fetalis (NIHF)		MIM:236750		pubmed:25052315,ClinVar:RCV001375978	
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs770020203					12p12.1	12	25227304	A	null	T	S	74	74		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951405479					12p12.1	12	25227303	C	null	T	S	74	74		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	G	null	G	A	75	75		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	T	null	G	E	75	75		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509701					12p12.1	12	25227301	G	null	G	R	75	75		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	A	null	G	V	75	75		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509675					12p12.1	12	25227298	A	null	E	*	76	76		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs727503107					12p12.1	12	25227296	A	null	E	D	76	76		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509675					12p12.1	12	25227298	T	null	E	K	76	76		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	G	null	G	A	77	77		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509652					12p12.1	12	25227295	A	null	G	C	77	77		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	T	null	G	D	77	77		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509652					12p12.1	12	25227295	G	null	G	R	77	77		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2141509652					12p12.1	12	25227295	T	null	G	S	77	77		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	A	null	G	V	77	77		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	T	null	F	I	78	78		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509607					12p12.1	12	25227290	T	null	F	L	78	78		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	G	null	F	L	78	78		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509612					12p12.1	12	25227291	G	null	F	S	78	78		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	C	null	F	V	78	78		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509594					12p12.1	12	25227289	A	null	L	F	79	79		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs868857258					12p12.1	12	25227288	T	null	L	H	79	79		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs868857258					12p12.1	12	25227288	G	null	L	P	79	79		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509594					12p12.1	12	25227289	C	null	L	V	79	79		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509582					12p12.1	12	25227284	T	null	C	*	80	80		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509564					12p12.1	12	25227282	G	null	V	A	81	81		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509564					12p12.1	12	25227282	T	null	V	E	81	81		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509571					12p12.1	12	25227283	T	null	V	I	81	81		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509571					12p12.1	12	25227283	A	null	V	L	81	81		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509552					12p12.1	12	25227280	T	null	F	I	82	82		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509547					12p12.1	12	25227278	T	null	F	L	82	82		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	T	null	A	D	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	C	null	A	G	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	G	null	A	P	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	A	null	A	S	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	T	null	A	T	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	A	null	A	V	83	83		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509504					12p12.1	12	25227273	T	null	I	K	84	84		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509504					12p12.1	12	25227273	G	null	I	T	84	84		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2141509513		[ClinVar]: RASopathy			12p12.1	12	25227274	C	null	I	V	84	84		missense			0.19	tolerated - low confidence	0	RASopathy				ClinVar:RCV002544187	
P01116	KRAS	GTPase KRas	Ensembl	rs2141509492					12p12.1	12	25227270	C	null	N	S	85	85		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1340281106					12p12.1	12	25227268	G	null	N	H	86	86		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509482					12p12.1	12	25227267	C	null	N	S	86	86		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	A	null	T	I	87	87		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	T	null	T	N	87	87		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	C	null	T	S	87	87		missense			0.34	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP	rs397517038					12p12.1	12	25227263	l	null	K	null	88	88		frameshift					1						
P01116	KRAS	GTPase KRas	Ensembl	rs953088090					12p12.1	12	25227262	C	null	K	E	88	88		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509443					12p12.1	12	25227261	A	null	K	I	88	88		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,ExAC,TOPMed,gnomAD	rs370920665					12p12.1	12	25227260	A	null	K	N	88	88		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509407					12p12.1	12	25227258	C	null	S	*	89	89		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509407		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227258	A	null	S	L	89	89		missense	0.998	probably damaging	0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141509393					12p12.1	12	25227256	T	null	F	I	90	90		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509387		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227256	G	null	F	L	90	90		missense	0.147	benign	0.05	tolerated	0	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141509390					12p12.1	12	25227255	T	null	F	Y	90	90		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509373					12p12.1	12	25227251	A	null	E	D	91	91		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509380					12p12.1	12	25227253	G	null	E	Q	91	91		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509346					12p12.1	12	25227248	T	null	D	E	92	92		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1437657227					12p12.1	12	25227250	G	null	D	H	92	92		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1437657227					12p12.1	12	25227250	T	null	D	N	92	92		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1437657227		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227250	A	null	D	Y	92	92		missense	0.963	probably damaging	0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141509341					12p12.1	12	25227247	A	null	I	F	93	93		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509336					12p12.1	12	25227246	T	null	I	N	93	93		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509321					12p12.1	12	25227244	C	null	H	D	94	94		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509306					12p12.1	12	25227243	A	null	H	L	94	94		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509296					12p12.1	12	25227242	C	null	H	Q	94	94		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509306					12p12.1	12	25227243	C	null	H	R	94	94		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1309399018					12p12.1	12	25227241	C	null	H	D	95	95		missense			0.1	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1309399018					12p12.1	12	25227241	T	null	H	N	95	95		missense			0.18	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509277					12p12.1	12	25227239	T	null	H	Q	95	95		missense			1.0	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1309399018		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227241	A	null	H	Y	95	95		missense	0.0	benign	0.5	tolerated - low confidence	0	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141509251					12p12.1	12	25227236	T	null	Y	*	96	96		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509259					12p12.1	12	25227238	G	null	Y	H	96	96		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509259					12p12.1	12	25227238	T	null	Y	N	96	96		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141509245					12p12.1	12	25227235	C	null	R	G	97	97		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs727503106					12p12.1	12	25227234	A	null	R	I	97	97		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs727503106		[ClinVar]: Non-small cell lung carcinoma			12p12.1	12	25227234	T	null	R	K	97	97		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150887	
P01116	KRAS	GTPase KRas	Ensembl	rs2141506565					12p12.1	12	25225773	A	null	R	S	97	97		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs727503106					12p12.1	12	25227234	G	null	R	T	97	97		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506561					12p12.1	12	25225770	A	null	E	D	98	98		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506551					12p12.1	12	25225769	A	null	Q	*	99	99		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506551					12p12.1	12	25225769	C	null	Q	E	99	99		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506533					12p12.1	12	25225764	C	null	I	M	100	100		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506536					12p12.1	12	25225765	T	null	I	N	100	100		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506536					12p12.1	12	25225765	G	null	I	T	100	100		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506530					12p12.1	12	25225763	A	null	K	*	101	101		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506524					12p12.1	12	25225762	A	null	K	I	101	101		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506509					12p12.1	12	25225760	C	null	R	G	102	102		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506503					12p12.1	12	25225759	T	null	R	K	102	102		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506494					12p12.1	12	25225758	A	null	R	S	102	102		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506486					12p12.1	12	25225756	T	null	V	D	103	103		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	A	null	K	*	104	104		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	C	null	K	E	104	104		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506465					12p12.1	12	25225753	A	null	K	M	104	104		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1208266431					12p12.1	12	25225752	G	null	K	N	104	104		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	G	null	K	Q	104	104		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506431					12p12.1	12	25225749	C	null	D	E	105	105		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	G	null	D	H	105	105		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	T	null	D	N	105	105		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506437					12p12.1	12	25225750	A	null	D	V	105	105		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	A	null	D	Y	105	105		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506420					12p12.1	12	25225748	G	null	S	P	106	106		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506420					12p12.1	12	25225748	T	null	S	T	106	106		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506389					12p12.1	12	25225743	A	null	E	D	107	107		missense			1.0	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1951384902					12p12.1	12	25225744	C	null	E	G	107	107		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506402					12p12.1	12	25225745	T	null	E	K	107	107		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506402					12p12.1	12	25225745	G	null	E	Q	107	107		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD,dbSNP	rs1264149117		[ClinVar]: RASopathy			12p12.1	12	25225740	C	null	D	E	108	108		missense			0.15	tolerated - low confidence	0	RASopathy				ClinVar:RCV002023967	
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs763553461					12p12.1	12	25225742	G	null	D	H	108	108		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs763553461					12p12.1	12	25225742	T	null	D	N	108	108		missense			0.04	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506379					12p12.1	12	25225741	A	null	D	V	108	108		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs763553461		[ClinVar]: RASopathy			12p12.1	12	25225742	A	null	D	Y	108	108		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV002564240	
P01116	KRAS	GTPase KRas	Ensembl	rs2141506367					12p12.1	12	25225738	T	null	V	E	109	109		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506370					12p12.1	12	25225739	T	null	V	I	109	109		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506370					12p12.1	12	25225739	G	null	V	L	109	109		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506351					12p12.1	12	25225736	C	null	P	A	110	110		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506351		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225736	A	null	P	S	110	110		missense	0.777	possibly damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	Ensembl	rs2141506320					12p12.1	12	25225731	G	null	M	I	111	111		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951384675					12p12.1	12	25225732	T	null	M	K	111	111		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951384733					12p12.1	12	25225733	A	null	M	L	111	111		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384675		[ClinVar]: RASopathy			12p12.1	12	25225732	G	null	M	T	111	111		missense			0.01	deleterious - low confidence	0	RASopathy				ClinVar:RCV002023088	
P01116	KRAS	GTPase KRas	TOPMed	rs1951384733					12p12.1	12	25225733	C	null	M	V	111	111		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs775836436					12p12.1	12	25225730	T	null	V	I	112	112		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs775836436					12p12.1	12	25225730	G	null	V	L	112	112		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506302					12p12.1	12	25225726	T	null	L	Q	113	113		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506292					12p12.1	12	25225723	T	null	V	E	114	114		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506296					12p12.1	12	25225724	T	null	V	I	114	114		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506296		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225724	G	null	V	L	114	114		missense	0.399	benign	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	G	null	G	A	115	115		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	T	null	G	E	115	115		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506277					12p12.1	12	25225721	T	null	G	R	115	115		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	A	null	G	V	115	115		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2141506264					12p12.1	12	25225718	G	null	N	H	116	116		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506254					12p12.1	12	25225716	T	null	N	K	116	116		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs202247812		[ClinVar]: Noonan syndrome 1			12p12.1	12	25225717	C	null	N	S	116	116		missense			0.0	deleterious - low confidence	0	Noonan syndrome 1 (NS1)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV000144422	
P01116	KRAS	GTPase KRas	Ensembl	rs202247812					12p12.1	12	25225717	G	null	N	T	116	116		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506243		[NCI-TCGA]: Variant assessed as Somatic; HIGH impact.			12p12.1	12	25225715	A	null	K	*	117	117		stop gained					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141506243					12p12.1	12	25225715	C	null	K	E	117	117		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225714	A	null	K	I	117	117		missense	0.52	possibly damaging	0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001731671	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow From tissue: Blood				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS From tissue: Hepatic flexure of colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Cecum From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Descending colon				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668924	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense	0.994	probably damaging	0.01	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs2141506205					12p12.1	12	25225710	T	null	C	*	118	118		stop gained					0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951384421					12p12.1	12	25225711	A	null	C	F	118	118		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Gastric cancer		MIM:613659		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	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:RCV005005867	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001352126	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005005867	
P01116	KRAS	GTPase KRas	TOPMed	rs1951384421		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225711	G	null	C	S	118	118		missense	0.031	benign	0.1	tolerated	1	Squamous Cell Neoplasms	From tissue: Lower lobe, lung				
P01116	KRAS	GTPase KRas	TOPMed	rs1951384421					12p12.1	12	25225711	T	null	C	Y	118	118		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951384352					12p12.1	12	25225707	T	null	D	E	119	119		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs730880471		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	G	null	D	H	119	119		missense	0.998	probably damaging	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl	rs730880471		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	G	null	D	H	119	119		missense	0.998	probably damaging	0.0	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Acute myeloid leukemia (AML)	CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,ClinVar:RCV000850568	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000850568	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000850568	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense	0.995	probably damaging	0.0	deleterious	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:RCV000850568,ClinVar:RCV000999628	
P01116	KRAS	GTPase KRas	Ensembl	rs2141506192					12p12.1	12	25225708	A	null	D	V	119	119		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506171					12p12.1	12	25225705	T	null	L	*	120	120		missense					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506164					12p12.1	12	25225704	G	null	L	F	120	120		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506181					12p12.1	12	25225706	T	null	L	M	120	120		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	C	null	P	A	121	121		missense			0.29	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	T	null	P	H	121	121		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	A	null	P	L	121	121		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	C	null	P	R	121	121		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	A	null	P	S	121	121		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	T	null	P	T	121	121		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	C	null	S	C	122	122		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	A	null	S	F	122	122		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506136					12p12.1	12	25225700	T	null	S	T	122	122		missense			0.77	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	T	null	S	Y	122	122		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506118		[NCI-TCGA]: Variant assessed as Somatic; HIGH impact.			12p12.1	12	25225697	A	null	R	*	123	123		missense					1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	A	null	R	I	123	123		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	T	null	R	K	123	123		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506105					12p12.1	12	25225695	A	null	R	S	123	123		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	G	null	R	T	123	123		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	C	null	T	A	124	124	0.000196232	missense			0.07	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1555193856					12p12.1	12	25225693	A	null	T	I	124	124		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	G	null	T	P	124	124	0.000196232	missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1555193856					12p12.1	12	25225693	C	null	T	R	124	124		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	A	null	T	S	124	124	0.000196232	missense			0.09	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506065					12p12.1	12	25225690	G	null	V	A	125	125		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506065					12p12.1	12	25225690	T	null	V	E	125	125		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506073					12p12.1	12	25225691	T	null	V	I	125	125		missense			0.03	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506073					12p12.1	12	25225691	G	null	V	L	125	125		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1300504131					12p12.1	12	25225686	C	null	D	E	126	126		missense			0.41	tolerated - low confidence	1						
P01116	KRAS	GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	G	null	D	H	126	126		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	T	null	D	N	126	126		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506045					12p12.1	12	25225687	A	null	D	V	126	126		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	A	null	D	Y	126	126		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs781634879					12p12.1	12	25225684	C	null	T	R	127	127		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506032					12p12.1	12	25225685	A	null	T	S	127	127		missense			0.31	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs746609817					12p12.1	12	25225681	A	null	K	I	128	128		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141506000					12p12.1	12	25225680	A	null	K	N	128	128		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs746609817					12p12.1	12	25225681	C	null	K	R	128	128		missense			0.52	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505995					12p12.1	12	25225679	A	null	Q	*	129	129		missense					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505982					12p12.1	12	25225677	A	null	Q	H	129	129		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505990					12p12.1	12	25225678	C	null	Q	R	129	129		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs730880473					12p12.1	12	25225675	T	null	A	D	130	130		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs730880473					12p12.1	12	25225675	C	null	A	G	130	130		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Gastric cancer		MIM:613659		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	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:RCV005005200	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001350656	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005005200	
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	G	null	A	P	130	130		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	A	null	A	S	130	130		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	T	null	A	T	130	130		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	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:RCV000349904	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	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:RCV002478474	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	RASopathy				ClinVar:RCV001368828	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.02	deleterious - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV002478474	
P01116	KRAS	GTPase KRas	Ensembl	rs2141505931					12p12.1	12	25225673	A	null	Q	*	131	131		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505931					12p12.1	12	25225673	C	null	Q	E	131	131		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505910					12p12.1	12	25225671	A	null	Q	H	131	131		missense			0.13	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951383665					12p12.1	12	25225672	A	null	Q	L	131	131		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed	rs1951383665					12p12.1	12	25225672	C	null	Q	R	131	131		missense			0.05	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505889					12p12.1	12	25225669	G	null	D	A	132	132		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505878					12p12.1	12	25225668	C	null	D	E	132	132		missense			0.83	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505902					12p12.1	12	25225670	G	null	D	H	132	132		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505902					12p12.1	12	25225670	T	null	D	N	132	132		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505889					12p12.1	12	25225669	A	null	D	V	132	132		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505858					12p12.1	12	25225666	C	null	L	*	133	133		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505866					12p12.1	12	25225667	T	null	L	I	133	133		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,TOPMed,dbSNP	rs373500216					12p12.1	12	25225663	C	null	A	G	134	134		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565884227					12p12.1	12	25225664	G	null	A	P	134	134		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565884227					12p12.1	12	25225664	A	null	A	S	134	134		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1565884227					12p12.1	12	25225664	T	null	A	T	134	134		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ESP,TOPMed	rs373500216					12p12.1	12	25225663	A	null	A	V	134	134		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505814					12p12.1	12	25225661	A	null	R	*	135	135		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951383559					12p12.1	12	25225660	T	null	R	K	135	135		missense			0.45	tolerated - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs1951383559		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225660	G	null	R	T	135	135		missense	0.007	benign	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs757816355					12p12.1	12	25225657	A	null	S	I	136	136		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	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:RCV005010589	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	RASopathy				ClinVar:RCV001868002	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.04	deleterious - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005010589	
P01116	KRAS	GTPase KRas	Ensembl	rs2141505781					12p12.1	12	25225656	T	null	S	R	136	136		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs757816355					12p12.1	12	25225657	G	null	S	T	136	136		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs752731198					12p12.1	12	25225653	T	null	Y	*	137	137		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505766					12p12.1	12	25225654	A	null	Y	F	137	137		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505773					12p12.1	12	25225655	G	null	Y	H	137	137		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	G	null	G	A	138	138		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	T	null	G	E	138	138		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs778702415					12p12.1	12	25225652	T	null	G	R	138	138		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	A	null	G	V	138	138		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	C	null	P	A	140	140		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	T	null	P	H	140	140		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	A	null	P	L	140	140		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	C	null	P	R	140	140		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	A	null	P	S	140	140		missense			0.02	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	T	null	P	T	140	140		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505704					12p12.1	12	25225643	T	null	F	I	141	141		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,ExAC,TOPMed,gnomAD	rs138669124					12p12.1	12	25225641	T	null	F	L	141	141		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505698					12p12.1	12	25225642	T	null	F	Y	141	141		missense			0.53	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1344202459					12p12.1	12	25225639	G	null	I	T	142	142		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	A	null	E	*	143	143		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505650					12p12.1	12	25225635	A	null	E	D	143	143		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505655					12p12.1	12	25225636	C	null	E	G	143	143		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	T	null	E	K	143	143		missense			0.01	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	G	null	E	Q	143	143		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505655					12p12.1	12	25225636	A	null	E	V	143	143		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505644					12p12.1	12	25225634	C	null	T	A	144	144		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505638					12p12.1	12	25225633	A	null	T	I	144	144		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505638					12p12.1	12	25225633	C	null	T	R	144	144		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505644					12p12.1	12	25225634	A	null	T	S	144	144		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505617					12p12.1	12	25225630	T	null	S	*	145	145		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505617					12p12.1	12	25225630	A	null	S	L	145	145		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505627					12p12.1	12	25225631	T	null	S	T	145	145		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1057519725					12p12.1	12	25225627	T	null	A	E	146	146		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1057519725					12p12.1	12	25225627	C	null	A	G	146	146		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV002259922	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984134	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense	1.0	probably damaging	0.0	deleterious	1	RASopathy				ClinVar:RCV001861474	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: RASopathy			12p12.1	12	25225628	A	null	A	S	146	146		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000473918	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Cervix uteri				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS;Colon, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Stomach, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004554743	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Classic Hodgkin lymphoma (CHL)		MIM:236000		ClinVar:RCV002227934	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectosigmoid junction				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Transverse colon				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839448	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Lymphoid Leukemias	From tissue: Blood				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Myeloid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791298	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense					1	RASopathy				ClinVar:RCV001852208	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Cystic, Mucinous and Serous Neoplasms	From tissue: Sigmoid colon				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839452	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004760489	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV003332167	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791299	
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116	KRAS	GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense					1	RASopathy				ClinVar:RCV002524688	
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs387907206		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25225625	C	null	K	E	147	147		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs387907206		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25225625	C	null	K	E	147	147		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000024618	
P01116	KRAS	GTPase KRas	Ensembl	rs2141505570					12p12.1	12	25225623	G	null	K	N	147	147		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1135401776		[ClinVar]: Noonan syndrome 3			12p12.1	12	25225624	C	null	K	R	147	147		missense			0.04	deleterious - low confidence	0	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:RCV000496202	
P01116	KRAS	GTPase KRas	Ensembl	rs2141505559					12p12.1	12	25225621	C	null	T	R	148	148		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505566					12p12.1	12	25225622	A	null	T	S	148	148		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs2141505552		[ClinVar]: Thyroid cancer, nonmedullary, 1			12p12.1	12	25225619	A	null	R	*	149	149		stop gained					1	Thyroid cancer, nonmedullary, 1		MIM:188550		ClinVar:RCV001789706	
P01116	KRAS	GTPase KRas	Ensembl	rs2141505546					12p12.1	12	25225618	T	null	R	K	149	149		missense			0.0	deleterious - low confidence	1						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951382657					12p12.1	12	25225617	A	null	R	S	149	149		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505546					12p12.1	12	25225618	G	null	R	T	149	149		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505533					12p12.1	12	25225616	A	null	Q	*	150	150		missense					1						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505533					12p12.1	12	25225616	C	null	Q	E	150	150		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505516					12p12.1	12	25225614	G	null	Q	H	150	150		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505520					12p12.1	12	25225615	A	null	Q	L	150	150		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141505520					12p12.1	12	25225615	C	null	Q	R	150	150		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489249					12p12.1	12	25215560	A	null	R	*	151	151		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489235					12p12.1	12	25215559	T	null	R	K	151	151		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489227					12p12.1	12	25215558	A	null	R	S	151	151		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489235		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25215559	G	null	R	T	151	151		missense	0.139	benign	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lesser curvature of stomach, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141489206					12p12.1	12	25215556	G	null	V	A	152	152		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489206					12p12.1	12	25215556	T	null	V	E	152	152		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489206					12p12.1	12	25215556	C	null	V	G	152	152		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489216					12p12.1	12	25215557	T	null	V	M	152	152		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1592798693		[ClinVar]: Noonan syndrome			12p12.1	12	25215553	G	null	E	A	153	153		missense			0.0	deleterious - low confidence	0	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:RCV001261058	
P01116	KRAS	GTPase KRas	Ensembl	rs2141489198					12p12.1	12	25215554	T	null	E	K	153	153		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489198					12p12.1	12	25215554	G	null	E	Q	153	153		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1592798693		[ClinVar]: Noonan syndrome 3			12p12.1	12	25215553	A	null	E	V	153	153		missense			0.0	deleterious - low confidence	0	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:RCV000789016	
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs989151052					12p12.1	12	25215550	C	null	D	G	154	154		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951245883					12p12.1	12	25215551	G	null	D	H	154	154		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951245883					12p12.1	12	25215551	T	null	D	N	154	154		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs989151052					12p12.1	12	25215550	A	null	D	V	154	154		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951245883					12p12.1	12	25215551	A	null	D	Y	154	154		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489155		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25215547	T	null	A	D	155	155		missense	0.998	probably damaging	0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116	KRAS	GTPase KRas	Ensembl	rs2141489155					12p12.1	12	25215547	C	null	A	G	155	155		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1951245764					12p12.1	12	25215548	T	null	A	T	155	155		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489155					12p12.1	12	25215547	A	null	A	V	155	155		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489148					12p12.1	12	25215543	T	null	F	L	156	156		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489141					12p12.1	12	25215542	G	null	Y	H	157	157		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs749177256					12p12.1	12	25215538	A	null	T	I	158	158		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1265970615					12p12.1	12	25215539	G	null	T	P	158	158		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs749177256					12p12.1	12	25215538	C	null	T	R	158	158		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs1265970615					12p12.1	12	25215539	A	null	T	S	158	158		missense			0.09	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489101					12p12.1	12	25215534	A	null	L	F	159	159		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951245377					12p12.1	12	25215535	G	null	L	S	159	159		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs539423712					12p12.1	12	25215532	G	null	V	A	160	160		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs755877953					12p12.1	12	25215533	A	null	V	L	160	160		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs755877953					12p12.1	12	25215533	T	null	V	M	160	160		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	dbSNP	rs4362222		[ClinVar]: RASopathy			12p12.1	12	252155	=	null	R	=	161	161		-					0	RASopathy				ClinVar:RCV000149847	
P01116	KRAS	GTPase KRas	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs4362222					12p12.1	12	25215528	G	null	R	S	161	161	0.00235479	missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951245193					12p12.1	12	25215525	G	null	E	D	162	162		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489046					12p12.1	12	25215522	C	null	I	M	163	163		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489060					12p12.1	12	25215523	T	null	I	N	163	163		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489060					12p12.1	12	25215523	C	null	I	S	163	163		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951244924					12p12.1	12	25215524	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs200186819		[NCI-TCGA]: Variant assessed as Somatic; HIGH impact.			12p12.1	12	25215521	A	null	R	*	164	164		stop gained					0	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs200186819					12p12.1	12	25215521	C	null	R	G	164	164		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs758575947					12p12.1	12	25215520	A	null	R	L	164	164		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs758575947					12p12.1	12	25215520	G	null	R	P	164	164		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs758575947		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25215520	T	null	R	Q	164	164		missense	0.586	possibly damaging	0.02	deleterious	0	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs752732542					12p12.1	12	25215518	A	null	Q	*	165	165		stop gained					0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs752732542					12p12.1	12	25215518	C	null	Q	E	165	165		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141489008					12p12.1	12	25215516	A	null	Q	H	165	165		missense			0.09	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,TOPMed,gnomAD	rs368557003					12p12.1	12	25215517	C	null	Q	R	165	165		missense			0.17	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488992					12p12.1	12	25215513	C	null	Y	*	166	166		stop gained					0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs397517476		[ClinVar]: KRAS-related disorder			12p12.1	12	25215515	G	null	Y	H	166	166		missense			0.95	tolerated - low confidence	0	KRAS-related disorder				ClinVar:RCV004551468	
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs397517476					12p12.1	12	25215515	T	null	Y	N	166	166		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488987					12p12.1	12	25215512	C	null	R	G	167	167		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488979					12p12.1	12	25215511	A	null	R	I	167	167		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488979					12p12.1	12	25215511	G	null	R	T	167	167		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs777244909					12p12.1	12	25215508	T	null	L	*	168	168		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488961					12p12.1	12	25215507	A	null	L	F	168	168		missense			0.05	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1388539722					12p12.1	12	25215509	T	null	L	M	168	168		missense			0.42	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1388539722					12p12.1	12	25215509	C	null	L	V	168	168		missense			0.11	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488957					12p12.1	12	25215506	C	null	K	E	169	169		missense			0.32	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1191739287					12p12.1	12	25215503	C	null	K	E	170	170		missense			0.15	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488941					12p12.1	12	25215501	A	null	K	N	170	170		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565880662					12p12.1	12	25215502	G	null	K	T	170	170		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,gnomAD	rs766231905					12p12.1	12	25215498	C	null	I	M	171	171		missense			0.16	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl,dbSNP	rs1057517885		[ClinVar]: RASopathy			12p12.1	12	25215499	G	null	I	T	171	171		missense			0.14	tolerated - low confidence	0	RASopathy				ClinVar:RCV000509244	
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs772985440					12p12.1	12	25215497	A	null	S	C	172	172		missense			0.01	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488902					12p12.1	12	25215496	A	null	S	I	172	172		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488902					12p12.1	12	25215496	T	null	S	N	172	172		missense			0.64	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488892					12p12.1	12	25215495	T	null	S	R	172	172		missense			0.05	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488902					12p12.1	12	25215496	G	null	S	T	172	172		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488887					12p12.1	12	25215493	C	null	K	R	173	173		missense			0.42	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs771629239					12p12.1	12	25215491	A	null	E	*	174	174		stop gained					0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs771629239					12p12.1	12	25215491	T	null	E	K	174	174		missense			0.25	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs771629239					12p12.1	12	25215491	G	null	E	Q	174	174		missense			0.05	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565880650					12p12.1	12	25215488	A	null	E	*	175	175		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs1555192913					12p12.1	12	25215486	G	null	E	D	175	175		missense			0.98	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565880650					12p12.1	12	25215488	T	null	E	K	175	175		missense			0.21	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1565880650					12p12.1	12	25215488	G	null	E	Q	175	175		missense			0.07	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488842					12p12.1	12	25215484	A	null	K	M	176	176		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1951243830					12p12.1	12	25215483	A	null	K	N	176	176		missense			0.13	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488842					12p12.1	12	25215484	C	null	K	R	176	176		missense			0.22	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488831					12p12.1	12	25215482	A	null	T	S	177	177		missense			0.67	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488824					12p12.1	12	25215481	C	null	T	S	177	177		missense			0.67	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,TOPMed	rs374681135					12p12.1	12	25215479	C	null	P	A	178	178		missense			0.08	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488797					12p12.1	12	25215478	A	null	P	L	178	178		missense			0.04	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488797					12p12.1	12	25215478	C	null	P	R	178	178		missense			0.16	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,TOPMed	rs374681135					12p12.1	12	25215479	A	null	P	S	178	178		missense			0.25	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,TOPMed	rs374681135					12p12.1	12	25215479	T	null	P	T	178	178		missense			0.12	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488777					12p12.1	12	25215475	G	null	G	A	179	179		missense			0.02	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs200970347					12p12.1	12	25215476	A	null	G	C	179	179		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488777					12p12.1	12	25215475	T	null	G	D	179	179		missense			0.1	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs200970347					12p12.1	12	25215476	G	null	G	R	179	179		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD	rs200970347		[ClinVar]: KRAS-related disorder			12p12.1	12	25215476	T	null	G	S	179	179		missense			0.05	tolerated - low confidence	0	KRAS-related disorder				ClinVar:RCV004549474	
P01116	KRAS	GTPase KRas	Ensembl	rs2141488777					12p12.1	12	25215475	A	null	G	V	179	179		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,ExAC,TOPMed,dbSNP,gnomAD	rs373169526		[ClinVar]: Cardio-facio-cutaneous syndrome			12p12.1	12	25215471	T	null	C	*	180	180		stop gained					0	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV001526812	
P01116	KRAS	GTPase KRas	Ensembl	rs2141488764					12p12.1	12	25215473	T	null	C	S	180	180		missense			0.18	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488757					12p12.1	12	25215472	G	null	C	S	180	180		missense			0.18	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488757					12p12.1	12	25215472	T	null	C	Y	180	180		missense			0.27	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488743					12p12.1	12	25215469	G	null	V	A	181	181		missense			0.16	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488743					12p12.1	12	25215469	T	null	V	E	181	181		missense			0.09	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488749					12p12.1	12	25215470	T	null	V	M	181	181		missense			1.0	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs1024789250					12p12.1	12	25215467	C	null	K	E	182	182		missense			0.8	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	1000Genomes,ExAC,gnomAD	rs529925358					12p12.1	12	25215464	C	null	I	V	183	183	0.000196232	missense			0.58	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs749267065					12p12.1	12	25215461	A	null	K	*	184	184		stop gained					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488696					12p12.1	12	25215454	G	null	C	S	186	186		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	TOPMed,gnomAD	rs201967696					12p12.1	12	25215453	C	null	C	W	186	186		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488696					12p12.1	12	25215454	T	null	C	Y	186	186		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,gnomAD	rs779951033					12p12.1	12	25215452	A	null	I	F	187	187		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1951243246					12p12.1	12	25215451	T	null	I	N	187	187		missense			0.0	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	gnomAD	rs1951243246					12p12.1	12	25215451	G	null	I	T	187	187		missense			0.2	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,dbSNP,gnomAD	rs779951033		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4			12p12.1	12	25215452	C	null	I	V	187	187		missense			1.0	tolerated - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV001329578	
P01116	KRAS	GTPase KRas	gnomAD	rs1565880628					12p12.1	12	25215447	C	null	I	M	188	188		missense			0.03	deleterious - low confidence	0						
P01116	KRAS	GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs755967833		[ClinVar]: KRAS-related disorder			12p12.1	12	25215449	C	null	I	V	188	188		missense			1.0	tolerated - low confidence	0	KRAS-related disorder				ClinVar:RCV004549859	
P01116	KRAS	GTPase KRas	TOPMed	rs1951243078					12p12.1	12	25215444	G	null	M	I	189	189		missense			0.06	tolerated - low confidence	0						
P01116	KRAS	GTPase KRas	ESP,ExAC,TOPMed,dbSNP,gnomAD	rs201170656		[ClinVar]: KRAS-related disorder			12p12.1	12	25215446	G	null	M	L	189	189		missense			0.69	tolerated - low confidence	0	KRAS-related disorder				ClinVar:RCV004549475	
P01116	KRAS	GTPase KRas	Ensembl	rs2141488642					12p12.1	12	25215442	A	null	*	L	190	190		stop lost					0						
P01116	KRAS	GTPase KRas	Ensembl	rs2141488634					12p12.1	12	25215441	A	null	*	Y	190	190		stop lost					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806400					12p12.1	12	25245381	A	null	T	S	2	2		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951664697					12p12.1	12	25245380	C	null	T	S	2	2		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806390					12p12.1	12	25245376	A	null	E	D	3	3		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	1	Gliomas	From tissue: Brain, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV004549360	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	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:RCV000605141	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	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:RCV000013427	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	1	Prostate cancer, hereditary, 1 (HPC1)		MIM:601518		pubmed:25394175,pubmed:31829902,pubmed:35924163,ClinVar:RCV002291547	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs193929331		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Prostate cancer, hereditary, 1, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder	pubmed:17468812	pubmed:17468812,pubmed:18386799,pubmed:22211815	12p12.1	12	25245372	C	null	K	E	5	5		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000149836	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806379					12p12.1	12	25245371	A	null	K	I	5	5		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013425	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV000623267	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	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:RCV000520745	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs104894361		[UniProt]: GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein, [ClinVar]: Inborn genetic diseases, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:14534542	pubmed:17056636,pubmed:18386799	12p12.1	12	25245370	G	null	K	N	5	5		missense			0.0	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1296330213					12p12.1	12	25245369	T	null	L	I	6	6		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806364					12p12.1	12	25245368	G	null	L	P	6	6		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs1296330213		[ClinVar]: RASopathy			12p12.1	12	25245369	C	null	L	V	6	6		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001341946	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806346					12p12.1	12	25245365	T	null	V	E	7	7		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806349					12p12.1	12	25245366	G	null	V	L	7	7		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135806349					12p12.1	12	25245366	T	null	V	M	7	7		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135806332					12p12.1	12	25245363	T	null	V	I	8	8		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806332					12p12.1	12	25245363	A	null	V	L	8	8		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806320					12p12.1	12	25245359	G	null	V	A	9	9		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806320					12p12.1	12	25245359	C	null	V	G	9	9		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951664416					12p12.1	12	25245360	T	null	V	I	9	9		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951664416					12p12.1	12	25245360	G	null	V	L	9	9		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806313					12p12.1	12	25245357	A	null	G	*	10	10		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806301					12p12.1	12	25245356	G	null	G	A	10	10		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs606231202		[ClinVar]: Acute myeloid leukemia		pubmed:8955068	12p12.1	12	25245356_25245358	p	null	GA	G	10	11		insertion					1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000013415	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806313					12p12.1	12	25245357	T	null	G	R	10	10		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806301					12p12.1	12	25245356	A	null	G	V	10	10		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806273					12p12.1	12	25245353	C	null	A	G	11	11		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1064796748					12p12.1	12	25245353_25245354ins	C	null	A	GP	11	11		-					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806273					12p12.1	12	25245353	A	null	A	V	11	11		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Esophagus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas					
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Connective, subcutaneous and other soft tissues of abdomen				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Complex Mixed and Stromal Neoplasms	From tissue: Corpus uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectosigmoid junction				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Gallbladder cancer				ClinVar:RCV001374446	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV004549454	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996396,ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984117	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668758	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038266	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	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:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[UniProt]: colorectal cancer samples; somatic mutation, [ClinVar]: Gallbladder cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:34820593		12p12.1	12	25245349-25245350AC	G	null	G	A	12	12		missense			0.0	deleterious - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV004795958	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas					
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Hepatic flexure of colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Unknown				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS;Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Main bronchus				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Complex Mixed and Stromal Neoplasms	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Splenic flexure of colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Endometrial carcinoma		MIM:608089		pubmed:24493721,pubmed:24905773,pubmed:24929052,pubmed:33451724,pubmed:33516529,ClinVar:RCV000119791	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Gallbladder cancer				ClinVar:RCV001292543	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Lung adenocarcinoma				pubmed:23562183,pubmed:24627688,pubmed:25311215,pubmed:29355391,pubmed:29398453,ClinVar:RCV000431049	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996092	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Lung carcinoma				pubmed:23562183,pubmed:23667368,pubmed:24627688,pubmed:24846033,pubmed:25311215,pubmed:29355391,pubmed:29398453,pubmed:30813707,ClinVar:RCV000013406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Mesothelial Neoplasms	From tissue: Pleura, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668721	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038265	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV003654176	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Gallbladder cancer, [ClinVar]: Endometrial carcinoma, [UniProt]: lung carcinoma; somatic mutation; also found in metastatic colorectal cancer, [ClinVar]: Lung adenocarcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung carcinoma, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:34820593,pubmed:6320174	pubmed:11745231,pubmed:31666701,pubmed:35658005,pubmed:6320174	12p12.1	12	25245351-25245352CA	C	null	G	C	12	12		missense			0.0	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135806256					12p12.1	12	25245351_25245352delin	G	null	G	C	12	12		missense					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000433573,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS From tissue: Lung, NOS From tissue: Uterus, NOS From tissue: Fundus of stomach From tissue: Pancreas, NOS From tissue: Rectum, NOS From tissue: Endometrium From tissue: Not Reported;Colon, NOS From tissue: Sigmoid colon From tissue: Colon, NOS From tissue: Ascending colon From tissue: Cecum From tissue: Cervix uteri From tissue: Transverse colon From tissue: Upper lobe, lung From tissue: Gastric antrum From tissue: Body of stomach From tissue: Lower lobe, lung From tissue: Overlapping lesion of lung From tissue: Rectosigmoid junction From tissue: Extrahepatic bile duct From tissue: Head of pancreas From tissue: Stomach, NOS From tissue: Middle lobe, lung From tissue: Hepatic flexure of colon From tissue: Liver From tissue: Prostate gland				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Atypical endometrial hyperplasia				ClinVar:RCV003327361	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144970,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Capillary malformation-arteriovenous malformation 1 (CMAVM1)	Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs.	MIM:608354		pubmed:21348050,ClinVar:RCV001799604	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000013411	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV000585796,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Colorectal Cancer	While the KRAS G12 region is a widely studied recurrent region in cancer, its impact on clinical action is still actively debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort in patients with colorectal and pancreatic cancer, however this hypothesis is in need of further validation. This mutation, along with the mutations affecting the neighboring G13 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. The NCCN guidelines for colorectal cancer contain recommendations that the targeted therapies cetuximab and panitumumab should only be used in the context of wild type KRAS. However, cetuximab treatment was shown to extend survival in a single cohort of colorectal patients with G12D mutations. Overall, the interpretation for KRAS mutations in most clinical scenarios is still undecided.	MIM:114500	pubmed:11050000,pubmed:12483530,pubmed:16497971,pubmed:17409929,pubmed:18316791,pubmed:19029981,pubmed:19223544,pubmed:19284554,pubmed:20619739,pubmed:22025163,pubmed:22246397,pubmed:22392911,pubmed:22948721,pubmed:23014527,pubmed:23524406,pubmed:23565280,pubmed:24265155,pubmed:26161928,pubmed:26352686,pubmed:27010960,pubmed:27010960,pubmed:27959684	Civic:79	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Complex Epithelial Neoplasms	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Complex Mixed and Stromal Neoplasms	From tissue: Kidney, NOS From tissue: Corpus uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Congenital Pulmonary Airway Malformations				ClinVar:RCV004554600	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum From tissue: Ovary;Ovary From tissue: Rectum, NOS From tissue: Sigmoid colon From tissue: Hepatic flexure of colon From tissue: Gastric antrum From tissue: Ascending colon From tissue: Colon, NOS From tissue: Endometrium From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS From tissue: Head of pancreas From tissue: Pancreas, NOS;Pancreas, NOS From tissue: Body of pancreas From tissue: Tail of pancreas From tissue: Breast, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839445	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Endometrial hyperplasia without atypia				ClinVar:RCV003327361	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Epidermal nevus	PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia.	MIM:162900		pubmed:23946963,ClinVar:RCV000022799	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV002508117,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Gliomas	From tissue: Brain, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144969	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV000029215,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668724	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Neoplasms, NOS	From tissue: Breast, NOS;Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150896	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	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:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Ovarian neoplasm				pubmed:19042984,pubmed:22964825,pubmed:23188549,pubmed:29450531,pubmed:33410258,ClinVar:RCV000150897	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Primary low grade serous adenocarcinoma of ovary				ClinVar:RCV000856666	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	RASopathy				ClinVar:RCV000548006	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Schimmelpenning-Feuerstein-Mims syndrome (SFM)	A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.	MIM:163200	pubmed:30891959		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005007840	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS From tissue: Lateral wall of bladder				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[ClinVar]: Capillary malformation-arteriovenous malformation 1, [UniProt]: GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer, [ClinVar]: Gastric cancer, [ClinVar]: Acute myeloid leukemia, [ClinVar]: Endometrial hyperplasia without atypia, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Primary low grade serous adenocarcinoma of ovary, [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Vascular Tumors Including Pyogenic Granuloma, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Ovarian neoplasm, [ClinVar]: Epidermal nevus, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Carcinoma of pancreas, [ClinVar]: Congenital Pulmonary Airway Malformations	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:30891959,pubmed:34820593,pubmed:7773929,pubmed:8439212	pubmed:17332249,pubmed:20805368,pubmed:20949522,pubmed:21079152,pubmed:22499344,pubmed:22683711,pubmed:29298116,pubmed:7773929,pubmed:8439212	12p12.1	12	25245350	T	null	G	D	12	12		missense			0.04	deleterious - low confidence	1	Vascular Tumors Including Pyogenic Granuloma				ClinVar:RCV000662266	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenoid cystic carcinoma				ClinVar:RCV004813033	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Extrahepatic bile duct				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Prostate gland				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Intrahepatic bile duct				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Body of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV000013408	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668722	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154401	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	RASopathy				ClinVar:RCV002513010	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Squamous cell lung carcinoma				ClinVar:RCV000013407	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Adenoid cystic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Squamous cell lung carcinoma, [ClinVar]: RASopathy, [UniProt]: lung cancer and bladder cancer; somatic mutation, [ClinVar]: Malignant tumor of urinary bladder, [ClinVar]: Neoplasm	pubmed:6695174	pubmed:6695174	12p12.1	12	25245349-25245351ACC>	T	null	G	R	12	12		missense			0.01	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Lateral wall of bladder				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction From tissue: Colon, NOS From tissue: Upper lobe, lung From tissue: Endometrium From tissue: Cardia, NOS From tissue: Lung, NOS From tissue: Cecum From tissue: Rectum, NOS From tissue: Sigmoid colon From tissue: Body of pancreas From tissue: Fundus of stomach From tissue: Transverse colon From tissue: Lower lobe, lung From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004795403	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV000013414	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144971	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668726	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038264	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Ovarian neoplasm				pubmed:19042984,pubmed:22964825,pubmed:23188549,pubmed:29450531,pubmed:33410258,ClinVar:RCV000119790	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	RASopathy				ClinVar:RCV001851824	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs121913530		[ClinVar]: Ovarian neoplasm, [UniProt]: GASC and JMML; also found in lung carcinoma; somatic mutation, [ClinVar]: Gastric cancer, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Vascular malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: Neoplasm	pubmed:16533793,pubmed:16959974,pubmed:17332249,pubmed:7773929	pubmed:17332249,pubmed:7773929	12p12.1	12	25245351	T	null	G	S	12	12		missense			0.01	deleterious - low confidence	1	Vascular malformation				ClinVar:RCV004562205	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon From tissue: Extrahepatic bile duct;Extrahepatic bile duct From tissue: Rectum, NOS From tissue: Lower lobe, lung From tissue: Upper lobe, lung From tissue: Rectosigmoid junction From tissue: Colon, NOS From tissue: Gastric antrum From tissue: Middle lobe, lung From tissue: Head of pancreas From tissue: Sigmoid colon From tissue: Endometrium From tissue: Uterus, NOS From tissue: Cecum From tissue: Pancreas, NOS From tissue: Overlapping lesion of pancreas From tissue: Kidney, NOS From tissue: Cardia, NOS From tissue: Lung, NOS From tissue: Ascending colon From tissue: Body of pancreas From tissue: Splenic flexure of colon From tissue: Descending colon From tissue: Hepatic flexure of colon From tissue: Fundus uteri From tissue: Thyroid gland From tissue: Tail of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000013413	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV000585801	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Chronic myelogenous leukemia, BCR-ABL1 positive (CML)		MIM:608232		pubmed:24976289,ClinVar:RCV002291496	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Complex Mixed and Stromal Neoplasms	From tissue: Uterus, NOS From tissue: Corpus uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Descending colon From tissue: Lower lobe, lung From tissue: Upper lobe, lung From tissue: Ovary From tissue: Colon, NOS From tissue: Rectum, NOS From tissue: Cervix uteri From tissue: Ascending colon From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS From tissue: Head of pancreas From tissue: Breast, NOS From tissue: Tail of pancreas From tissue: Body of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Epithelial Neoplasms, NOS	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000150895	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV003455987	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Lung sarcomatoid carcinoma				ClinVar:RCV003322589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668725	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Neoplasms, NOS	From tissue: Overlapping lesion of colon From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154262	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Osseous and Chondromatous Neoplasms	From tissue: Not Reported				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	RASopathy				ClinVar:RCV003539760	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Lung, NOS From tissue: Upper lobe, lung From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs121913529		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Lung sarcomatoid carcinoma, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Chronic myelogenous leukemia, BCR-ABL1 positive, [ClinVar]: RASopathy, [Ensembl]: Gastrointestinal stromal tumor (gist), [ClinVar]: Linear nevus sebaceous syndrome, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [UniProt]: GASC; also found in lung carcinoma, pancreatic carcinoma and colon cancer; also found in metastatic colorectal cancer; somatic mutation; it is constitutively activated and stimulates transcription activation of tumor suppressor genes in non-transformed fibroblasts, [ClinVar]: Carcinoma of pancreas	pubmed:14534542,pubmed:16533793,pubmed:16959974,pubmed:22711838,pubmed:24623306,pubmed:3034404,pubmed:34820593,pubmed:6092920,pubmed:8439212	pubmed:22683711,pubmed:29298116,pubmed:8439212	12p12.1	12	25245349-25245350AC	A	null	G	V	12	12		missense			0.01	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Lateral wall of bladder From tissue: Bladder, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml)			12p12.1	12	25245347	G	null	G	A	13	13		missense			0.05	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Middle lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas					
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144972	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV003335071	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038268	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: KRAS-related disorder		pubmed:21079152	12p12.1	12	25245348-25245349CA	T	null	G	C	13	13		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon From tissue: Colon, NOS From tissue: Rectosigmoid junction From tissue: Gastric antrum From tissue: Endometrium From tissue: Uterus, NOS From tissue: Rectum, NOS From tissue: Body of stomach From tissue: Cecum From tissue: Sigmoid colon From tissue: Upper lobe, lung From tissue: Liver From tissue: Descending colon From tissue: Fundus of stomach From tissue: Stomach, NOS From tissue: Cardia, NOS From tissue: Hepatic flexure of colon From tissue: Splenic flexure of colon From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000144968	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Breast adenocarcinoma				ClinVar:RCV000013409	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Chronic Myeloproliferative Disorders	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon From tissue: Cecum From tissue: Gastric antrum From tissue: Endometrium From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839444	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004813034	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266168	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV000144967	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV004549358	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Leukemia, juvenile myelomonocytic (JMML)	An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.	MIM:607785	pubmed:17332249		
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668723	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Neoplasms, NOS	From tissue: Colon, NOS;Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038269	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813183	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791297	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	RASopathy				ClinVar:RCV001857340	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[UniProt]: GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: KRAS-related disorder, [ClinVar]: Neoplasm, [ClinVar]: Inborn genetic diseases, [ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Breast adenocarcinoma, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:14534542,pubmed:16959974,pubmed:17332249,pubmed:25808193,pubmed:3627975	pubmed:17332249,pubmed:21063026,pubmed:25808193,pubmed:3627975	12p12.1	12	25245347	T	null	G	D	13	13		missense			0.04	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Posterior wall of bladder				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806127					12p12.1	12	25245345_25245347delins	T	null	GV	DI	13	14		missense					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806161					12p12.1	12	25245348-25245349CA	T	null	G	R	13	13		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2135806200					12p12.1	12	25245348_25245349delin	C	null	G	R	13	13		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense			0.01	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038267	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense			0.01	deleterious - low confidence	1	Pilocytic astrocytoma				ClinVar:RCV000013424	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913535		[UniProt]: pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Pilocytic astrocytoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:16247081	pubmed:16247081	12p12.1	12	25245348	G	null	G	R	13	13		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs121913535					12p12.1	12	25245348	T	null	G	S	13	13		missense			0.03	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245347	A	null	G	V	13	13		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs112445441		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245347	A	null	G	V	13	13		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038270	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806110					12p12.1	12	25245344	T	null	V	E	14	14		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806110					12p12.1	12	25245344	C	null	V	G	14	14		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000844637	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Endometrial carcinoma		MIM:608089		pubmed:24493721,pubmed:24905773,pubmed:24929052,pubmed:33451724,pubmed:33516529,ClinVar:RCV000119792	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266727	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	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:RCV000521254,ClinVar:RCV000844637	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	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:RCV000013420	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813184	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000157945	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs104894365		[ClinVar]: Inborn genetic diseases, [ClinVar]: Endometrial carcinoma, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; affects activity and impairs responsiveness to GTPase activating proteins; characterized by a strong increase of both intrinsic and guanine nucleotide exchanged factor-catalyzed nucleotide exchange leading to an increased level of the activated state, [ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome	pubmed:16474405	pubmed:16474405	12p12.1	12	25245345	T	null	V	I	14	14		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs104894365		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25245345	G	null	V	L	14	14		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555195579					12p12.1	12	25245341	G	null	G	A	15	15		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555195579					12p12.1	12	25245341	T	null	G	D	15	15		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806091					12p12.1	12	25245342	G	null	G	R	15	15		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806091					12p12.1	12	25245342	T	null	G	S	15	15		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555195579					12p12.1	12	25245341	A	null	G	V	15	15		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806070					12p12.1	12	25245337	G	null	K	N	16	16		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951663808					12p12.1	12	25245335	T	null	S	N	17	17		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs776785730					12p12.1	12	25245334	C	null	S	R	17	17		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951663808					12p12.1	12	25245335	G	null	S	T	17	17		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806030					12p12.1	12	25245332	C	null	A	G	18	18		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806040					12p12.1	12	25245333	G	null	A	P	18	18		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806040					12p12.1	12	25245333	T	null	A	T	18	18		missense			0.04	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135806030		[ClinVar]: Noonan syndrome 3			12p12.1	12	25245332	A	null	A	V	18	18		missense			0.0	deleterious - low confidence	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:RCV002264903	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Acinar Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839449	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000201922	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV003654222	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Bladder, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Mature B-Cell Lymphomas	From tissue: Stomach, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668928	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs121913538		[UniProt]: OES; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:25808193	pubmed:25808193,pubmed:8456858	12p12.1	12	25245328	A	null	L	F	19	19		missense			0.0	deleterious - low confidence	1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs771188508					12p12.1	12	25245330	T	null	L	M	19	19		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135806003		[ClinVar]: Cardiofaciocutaneous syndrome 2			12p12.1	12	25245327	C	null	T	A	20	20		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV001420539	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805997					12p12.1	12	25245326	A	null	T	M	20	20		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805997		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245326	C	null	T	R	20	20		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135806003					12p12.1	12	25245327	A	null	T	S	20	20		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805986					12p12.1	12	25245324	A	null	I	L	21	21		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805981		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245323	C	null	I	R	21	21		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs121913236					12p12.1	12	25245321	A	null	Q	*	22	22		missense					1	Colon Mucinous Adenocarcinoma			pubmed:19661358	Civic:479	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[ClinVar]: RASopathy, [UniProt]: CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors	pubmed:17056636,pubmed:20949621		12p12.1	12	25245321	C	null	Q	E	22	22		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[ClinVar]: RASopathy, [UniProt]: CFC2; exhibits an increase in intrinsic and guanine nucleotide exchange factor catalyzed nucleotide exchange in combination with an impaired GTPase-activating protein-stimulated GTP hydrolysis but functional in interaction with effectors	pubmed:17056636,pubmed:20949621		12p12.1	12	25245321	C	null	Q	E	22	22		missense					0	RASopathy				ClinVar:RCV000654936	
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1951663491					12p12.1	12	25245319	A	null	Q	H	22	22		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Esophagus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV001078206	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Mature B-Cell Lymphomas	From tissue: Intra-abdominal lymph nodes				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Linear nevus sebaceous syndrome			12p12.1	12	25245321	T	null	Q	K	22	22		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25245320	A	null	Q	L	22	22		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000576784,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Gastric cancer		MIM:613659		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Hereditary diffuse gastric adenocarcinoma (HDGC)	Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass.	MIM:137215		pubmed:17392385,pubmed:20065170,pubmed:20301318,pubmed:22388873,pubmed:25394175,pubmed:25645574,pubmed:26324357,pubmed:26389210,pubmed:26389258,pubmed:32758476,ClinVar:RCV001253410	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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:RCV000150893	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		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:RCV000576784,ClinVar:RCV001095664,ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	RASopathy				ClinVar:RCV000157946	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503110		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Hereditary diffuse gastric adenocarcinoma, [UniProt]: NS3; impairs GTPase-activating protein stimulated GTP hydrolysis with unaffected intrinsic functions and a virtually functional effector interaction	pubmed:17056636		12p12.1	12	25245320	C	null	Q	R	22	22		missense					1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV003224112	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs730880472					12p12.1	12	25245317	T	null	L	Q	23	23		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880472		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245317	C	null	L	R	23	23		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880472		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245317	C	null	L	R	23	23		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805957					12p12.1	12	25245318	C	null	L	V	23	23		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805949					12p12.1	12	25245315	A	null	I	F	24	24		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805942		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245314	T	null	I	N	24	24		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805942		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245314	T	null	I	N	24	24		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2135805870					12p12.1	12	25245308_25245313	l	null	QN	null	25	26		inframe deletion					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951663379					12p12.1	12	25245312	A	null	Q	*	25	25		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951663379					12p12.1	12	25245312	C	null	Q	E	25	25		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805909					12p12.1	12	25245310	G	null	Q	H	25	25		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2135805919					12p12.1	12	25245311	C	null	Q	R	25	25		missense			0.04	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs794727277		[ClinVar]: Noonan syndrome 3			12p12.1	12	25245309	G	null	N	H	26	26		missense			0.01	deleterious - low confidence	0	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:RCV001808080	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805894					12p12.1	12	25245308	A	null	N	I	26	26		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805889					12p12.1	12	25245307	C	null	N	K	26	26		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs794727277					12p12.1	12	25245309	A	null	N	Y	26	26		missense			0.03	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805878					12p12.1	12	25245306	C	null	H	D	27	27		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805862					12p12.1	12	25245305	A	null	H	L	27	27		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805878					12p12.1	12	25245306	A	null	H	Y	27	27		missense			0.05	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805859					12p12.1	12	25245299	T	null	V	E	29	29		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,ExAC,TOPMed,gnomAD	rs113623140					12p12.1	12	25245295	C	null	D	E	30	30		missense			0.11	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805846					12p12.1	12	25245297	G	null	D	H	30	30		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805846		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245297	T	null	D	N	30	30		missense			0.0	deleterious - low confidence	0	Nevi and Melanomas	From tissue: Skin, NOS;Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805846					12p12.1	12	25245297	A	null	D	Y	30	30		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805818					12p12.1	12	25245294	T	null	E	K	31	31		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805818					12p12.1	12	25245294	G	null	E	Q	31	31		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805795					12p12.1	12	25245289	T	null	Y	*	32	32		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805801					12p12.1	12	25245291	C	null	Y	D	32	32		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805801					12p12.1	12	25245291	T	null	Y	N	32	32		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805765		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245286	C	null	D	E	33	33		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	G	null	D	H	33	33		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	T	null	D	N	33	33		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805772					12p12.1	12	25245287	A	null	D	V	33	33		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805778					12p12.1	12	25245288	A	null	D	Y	33	33		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805755					12p12.1	12	25245285	C	null	P	A	34	34		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	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:RCV000150892	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	1	Noonan syndrome 1 (NS1)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV003450654	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	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:RCV003152670	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: NS3; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:17056636		12p12.1	12	25245284	A	null	P	L	34	34		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000232330	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3)	pubmed:17056636		12p12.1	12	25245284	T	null	P	Q	34	34		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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000850569	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000850569	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000211723	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000043674,ClinVar:RCV000850569	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	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:RCV000211723	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	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:RCV000850569	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894366		[Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474405,pubmed:20949621	pubmed:16474405	12p12.1	12	25245284	C	null	P	R	34	34		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV001851825	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805755					12p12.1	12	25245285	A	null	P	S	34	34		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805755		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25245285	T	null	P	T	34	34		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805739					12p12.1	12	25245282	C	null	T	A	35	35		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805733					12p12.1	12	25245281	T	null	T	K	35	35		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805733					12p12.1	12	25245281	C	null	T	R	35	35		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805713					12p12.1	12	25245278	T	null	I	K	36	36		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000844636	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 1 (CFC1)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:115150		pubmed:20301365,pubmed:25173338,ClinVar:RCV000856729	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV004551310	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	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:RCV000844636	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503109		[UniProt]: NS3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Cardiofaciocutaneous syndrome 1, [ClinVar]: KRAS-related disorder	pubmed:17056636		12p12.1	12	25245277	C	null	I	M	36	36		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000150891	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805722					12p12.1	12	25245279	C	null	I	V	36	36		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805691					12p12.1	12	25245274	G	null	E	D	37	37		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805697					12p12.1	12	25245276	T	null	E	K	37	37		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2135805697					12p12.1	12	25245276	G	null	E	Q	37	37		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510577					12p12.1	12	25227410	T	null	D	E	38	38		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	G	null	D	H	38	38		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	T	null	D	N	38	38		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510582					12p12.1	12	25227411	A	null	D	V	38	38		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510590					12p12.1	12	25227412	A	null	D	Y	38	38		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510561					12p12.1	12	25227408	C	null	S	C	39	39		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510561					12p12.1	12	25227408	A	null	S	F	39	39		missense			0.04	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510572					12p12.1	12	25227409	T	null	S	T	39	39		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510540					12p12.1	12	25227404	C	null	Y	*	40	40		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510546					12p12.1	12	25227406	G	null	Y	H	40	40		missense			0.04	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510521					12p12.1	12	25227401	A	null	R	S	41	41		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510533					12p12.1	12	25227402	G	null	R	T	41	41		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510517					12p12.1	12	25227398	G	null	K	N	42	42		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510513					12p12.1	12	25227397	A	null	Q	*	43	43		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510513					12p12.1	12	25227397	C	null	Q	E	43	43		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510506					12p12.1	12	25227396	A	null	Q	L	43	43		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	G	null	V	A	44	44		missense			0.07	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	T	null	V	E	44	44		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510488					12p12.1	12	25227393	C	null	V	G	44	44		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510495					12p12.1	12	25227394	T	null	V	I	44	44		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510495					12p12.1	12	25227394	G	null	V	L	44	44		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510470					12p12.1	12	25227390	T	null	V	E	45	45		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510473					12p12.1	12	25227391	G	null	V	L	45	45		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510457					12p12.1	12	25227388	G	null	I	L	46	46		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs904755552					12p12.1	12	25227386	C	null	I	M	46	46		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1565885006					12p12.1	12	25227384	C	null	D	G	47	47		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	G	null	D	H	47	47		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	T	null	D	N	47	47		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565885006					12p12.1	12	25227384	A	null	D	V	47	47		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510444					12p12.1	12	25227385	A	null	D	Y	47	47		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510419					12p12.1	12	25227382	A	null	G	*	48	48		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	G	null	G	A	48	48		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	T	null	G	E	48	48		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510419					12p12.1	12	25227382	T	null	G	R	48	48		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565885000					12p12.1	12	25227381	A	null	G	V	48	48		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510389					12p12.1	12	25227377	A	null	E	D	49	49		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510396					12p12.1	12	25227379	T	null	E	K	49	49		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510396					12p12.1	12	25227379	G	null	E	Q	49	49		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880470		[ClinVar]: RASopathy			12p12.1	12	25227376	C	null	T	A	50	50		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000707607	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs1407509439					12p12.1	12	25227375	A	null	T	I	50	50		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs730880470					12p12.1	12	25227376	G	null	T	P	50	50		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1407509439					12p12.1	12	25227375	C	null	T	S	50	50		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880470					12p12.1	12	25227376	A	null	T	S	50	50		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510348					12p12.1	12	25227371	T	null	C	*	51	51		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	A	null	C	F	51	51		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510359					12p12.1	12	25227373	G	null	C	R	51	51		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	G	null	C	S	51	51		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510355					12p12.1	12	25227372	T	null	C	Y	51	51		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555194041		[ClinVar]: RASopathy			12p12.1	12	25227370	A	null	L	F	52	52		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000654951	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510335					12p12.1	12	25227369	T	null	L	H	52	52		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555194041					12p12.1	12	25227370	C	null	L	V	52	52		missense			0.04	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510313					12p12.1	12	25227366	T	null	L	*	53	53		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510303					12p12.1	12	25227365	G	null	L	F	53	53		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510317					12p12.1	12	25227367	T	null	L	M	53	53		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510291					12p12.1	12	25227362	T	null	D	E	54	54		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	G	null	D	H	54	54		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	T	null	D	N	54	54		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510296					12p12.1	12	25227364	A	null	D	Y	54	54		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510288					12p12.1	12	25227361	A	null	I	F	55	55		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951406889		[ClinVar]: Noonan syndrome			12p12.1	12	25227360	C	null	I	S	55	55		missense			0.0	deleterious - low confidence	0	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:RCV001261056	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510288					12p12.1	12	25227361	C	null	I	V	55	55		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	A	null	L	F	56	56		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510248					12p12.1	12	25227357	T	null	L	H	56	56		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	T	null	L	I	56	56		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510248					12p12.1	12	25227357	G	null	L	P	56	56		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510259					12p12.1	12	25227358	C	null	L	V	56	56		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1951406780					12p12.1	12	25227353	C	null	D	E	57	57		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510226					12p12.1	12	25227354	C	null	D	G	57	57		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510230					12p12.1	12	25227355	G	null	D	H	57	57		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510230		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227355	T	null	D	N	57	57		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510226					12p12.1	12	25227354	A	null	D	V	57	57		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510230					12p12.1	12	25227355	A	null	D	Y	57	57		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of 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			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of 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			0.0	deleterious - low confidence	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	
P01116-2	KRAS	Isoform 2B of 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			0.0	deleterious - low confidence	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		
P01116-2	KRAS	Isoform 2B of 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			0.0	deleterious - low confidence	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	
P01116-2	KRAS	Isoform 2B of 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			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000704828	
P01116-2	KRAS	Isoform 2B of 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						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510210					12p12.1	12	25227352	A	null	T	S	58	58		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2141509791					12p12.1	12	25227313_25227354	p	null	TAGQEEYSAMRDQY	null	58	71		insertion					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510210					12p12.1	12	25227352	C	null	T	A	58	58		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense			0.01	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense			0.01	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense			0.01	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	T	null	A	E	59	59		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	C	null	A	G	59	59		missense			0.04	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Kidney, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs104886029		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	C	null	A	G	59	59		missense			0.04	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs121913528					12p12.1	12	25227349	G	null	A	P	59	59		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227349	A	null	A	S	59	59		missense			0.05	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Bladder cancer, transitional cell, somatic				ClinVar:RCV000013410	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Gastric cancer (GASC)	A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease.	MIM:613659	pubmed:14534542,pubmed:3034404,pubmed:7773929		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913528		[UniProt]: GASC; also found in bladder cancer; somatic mutation, [ClinVar]: Bladder cancer, transitional cell, somatic, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.	pubmed:14534542,pubmed:1553789	pubmed:1553789	12p12.1	12	25227349	T	null	A	T	59	59		missense			0.03	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs104886029		[ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	A	null	A	V	59	59		missense			0.0	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV000119371	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs104886029		[ClinVar]: Familial cancer of breast, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227348	A	null	A	V	59	59		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs727503108					12p12.1	12	25227345	G	null	G	A	60	60		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs104894359		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25227346	A	null	G	C	60	60		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000521390,ClinVar:RCV000844635	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013416	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267316	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		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:RCV000844635	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		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:RCV003313917	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[ClinVar]: Cardio-facio-cutaneous syndrome, [ClinVar]: Inborn genetic diseases, [Ensembl]: Noonan syndrome 3 (ns3), [UniProt]: CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors, [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16474404,pubmed:20949621	pubmed:16474404	12p12.1	12	25227346	G	null	G	R	60	60		missense					1	RASopathy				ClinVar:RCV000157935	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV002470709	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		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		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		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:RCV000013428	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894359		[UniProt]: NS3, [Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:19396835	pubmed:19396835	12p12.1	12	25227346	T	null	G	S	60	60		missense					1	RASopathy				ClinVar:RCV000689097	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000157936	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150889	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	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:RCV000157936	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP,gnomAD	rs727503108		[ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227345	A	null	G	V	60	60		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV001850055	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs121913238					12p12.1	12	25227343	A	null	Q	*	61	61		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	C	null	Q	E	61	61		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Unknown primary site				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343	C	null	Q	E	61	61		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV003445113	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Myomatous Neoplasms	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Transitional Cell Papillomas and Carcinomas	From tissue: Posterior wall of bladder				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS From tissue: Not Reported;Colon, NOS From tissue: Cardia, NOS From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS From tissue: Colon, NOS From tissue: Endometrium From tissue: Ascending colon From tissue: Pancreas, NOS From tissue: Prostate gland				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Unknown primary site From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Juvenile myelomonocytic leukemia (JMML)		MIM:607785		pubmed:24493721,ClinVar:RCV001004043	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668811	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038259,ClinVar:RCV000154530	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	Primary intracranial sarcoma, DICER1-mutant				ClinVar:RCV004698422	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs17851045		[Ensembl]: Juvenile myelomonocytic leukemia (jmml), [ClinVar]: Primary intracranial sarcoma, DICER1-mutant, [ClinVar]: Juvenile myelomonocytic leukemia, [ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [UniProt]: lung carcinoma, [ClinVar]: Neoplasm, [ClinVar]: Cerebral arteriovenous malformation	pubmed:15489334,pubmed:16533793,UniProt:Ref.7		12p12.1	12	25227341	G	null	Q	H	61	61		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV002514970	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Thyroid gland				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Intrahepatic bile duct				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Colorectal Cancer		MIM:114500	pubmed:20619739	Civic:910	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000154402	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913238		[ClinVar]: Non-small cell lung carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227343-25227344GA	T	null	Q	K	61	61		missense			0.01	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510126					12p12.1	12	25227343_25227344delin	T	null	Q	K	61	61		missense					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung From tissue: Endometrium From tissue: Rectum, NOS From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Ovary				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS From tissue: Breast, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Medullary thyroid carcinoma (MTC)				pubmed:19469690,pubmed:20664475,pubmed:24493721,pubmed:25810047,ClinVar:RCV004813050	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984128	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668757	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000038258	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[ClinVar]: Medullary thyroid carcinoma, [ClinVar]: Non-small cell lung carcinoma, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm			12p12.1	12	25227341-25227342TT	A	null	Q	L	61	61		missense			0.02	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227341-25227342TT	G	null	Q	P	61	61		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227341-25227342TT	G	null	Q	P	61	61		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227341-25227342TT	G	null	Q	P	61	61		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510086					12p12.1	12	25227341-25227342TT	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Thyroid gland				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Colorectal Cancer		MIM:114500	pubmed:20619739	Civic:909	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Pancreas, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Head of pancreas				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV003996395	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668756	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	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:RCV000038257	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813342	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs121913240		[UniProt]: a colorectal cancer sample; somatic mutation; promotes interaction with SHOC2 and PP1C, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Lung cancer, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: Neoplasm	pubmed:16959974,pubmed:35830882,pubmed:35831509		12p12.1	12	25227342	C	null	Q	R	61	61		missense			0.04	deleterious - low confidence	1	RASopathy				ClinVar:RCV001209740	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510060					12p12.1	12	25227340	A	null	E	*	62	62		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1407455199					12p12.1	12	25227338	A	null	E	D	62	62		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510060		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227340	T	null	E	K	62	62		missense			0.0	deleterious - low confidence	1	Nevi and Melanomas	From tissue: Skin, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510060		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227340	T	null	E	K	62	62		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510060					12p12.1	12	25227340	G	null	E	Q	62	62		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Gastric cancer		MIM:613659		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	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:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	RASopathy				ClinVar:RCV000157931	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs730880469		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25227335CTC	]	null	E	null	63	63		inframe deletion					0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005008064	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510034					12p12.1	12	25227337	A	null	E	*	63	63		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1592808357		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227335	G	null	E	D	63	63		missense			0.0	deleterious - low confidence	0	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:RCV004789187	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense			0.0	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510034		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227337	T	null	E	K	63	63		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141510034					12p12.1	12	25227337	G	null	E	Q	63	63		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509990					12p12.1	12	25227332	C	null	Y	*	64	64		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405964					12p12.1	12	25227333	C	null	Y	C	64	64		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405995		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	C	null	Y	D	64	64		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405964					12p12.1	12	25227333	A	null	Y	F	64	64		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951405995		[ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	T	null	Y	N	64	64		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267233	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951405995		[ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227334	T	null	Y	N	64	64		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2141509973		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227336_25227337insGGTCCCTCATTGCCCTGT	T	null	YS	RAMRDQY	64	65		insertion					0	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:RCV002264904	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951405964		[ClinVar]: Inborn genetic diseases			12p12.1	12	25227333	G	null	Y	S	64	64		missense			0.0	deleterious - low confidence	0	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266427	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509984					12p12.1	12	25227331	A	null	S	C	65	65		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555194026		[ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy			12p12.1	12	25227330	A	null	S	I	65	65		missense			0.0	deleterious - low confidence	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:RCV000505640	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555194026		[ClinVar]: Noonan syndrome 3, [ClinVar]: RASopathy			12p12.1	12	25227330	A	null	S	I	65	65		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000680027	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555194026					12p12.1	12	25227330	T	null	S	N	65	65		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509952					12p12.1	12	25227329	C	null	S	R	65	65		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555194026					12p12.1	12	25227330	G	null	S	T	65	65		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509937					12p12.1	12	25227327	C	null	A	G	66	66		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405901					12p12.1	12	25227328	G	null	A	P	66	66		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951405901		[ClinVar]: Inborn genetic diseases			12p12.1	12	25227328	A	null	A	S	66	66		missense			0.0	deleterious - low confidence	1	Inborn genetic diseases				pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266428	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2141509708					12p12.1	12	25227303_25227329	p	null	AMRDQYMRT	null	66	74		insertion					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs2141509932		[ClinVar]: Capillary Telangiectasia, Brain			12p12.1	12	25227326_25227327insAGCAGG	A	null	AM	DLL	66	67		insertion					1	Capillary Telangiectasia, Brain				ClinVar:RCV001526874	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405901					12p12.1	12	25227328	T	null	A	T	66	66		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509937					12p12.1	12	25227327	A	null	A	V	66	66		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509890					12p12.1	12	25227323	G	null	M	I	67	67		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509906					12p12.1	12	25227324	T	null	M	K	67	67		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509914					12p12.1	12	25227325	A	null	M	L	67	67		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509906					12p12.1	12	25227324	C	null	M	R	67	67		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509873					12p12.1	12	25227321	T	null	R	K	68	68		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509873		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227321	A	null	R	M	68	68		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Liver				
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1951405809		[ClinVar]: Noonan syndrome 3			12p12.1	12	25227321_25227323	l	null	R	null	68	68		inframe deletion					0	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:RCV001264745	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509873					12p12.1	12	25227321	G	null	R	T	68	68		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509883					12p12.1	12	25227322	A	null	R	W	68	68		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509837					12p12.1	12	25227317	C	null	D	E	69	69		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	G	null	D	H	69	69		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	T	null	D	N	69	69		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509846					12p12.1	12	25227318	A	null	D	V	69	69		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509850					12p12.1	12	25227319	A	null	D	Y	69	69		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	A	null	Q	*	70	70		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	C	null	Q	E	70	70		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs780492744					12p12.1	12	25227314	G	null	Q	H	70	70		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509824					12p12.1	12	25227316	T	null	Q	K	70	70		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509796					12p12.1	12	2522731	>	null	Y	*	71	71		stop gained					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs387907205		[ClinVar]: Cardio-facio-cutaneous syndrome			12p12.1	12	25227313	C	null	Y	D	71	71		missense			0.0	deleterious - low confidence	0	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000221667	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509802					12p12.1	12	25227312	A	null	Y	F	71	71		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs387907205		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25227313	G	null	Y	H	71	71		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs387907205		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25227313	G	null	Y	H	71	71		missense					0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000024617	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509802					12p12.1	12	25227312	G	null	Y	S	71	71		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104886028		[ClinVar]: Sarcoma			12p12.1	12	25227308	T	null	M	I	72	72		missense			0.05	deleterious - low confidence	1	Sarcoma				ClinVar:RCV000119372	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509775					12p12.1	12	25227309	T	null	M	K	72	72		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727504662		[ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227310	A	null	M	L	72	72		missense			0.03	deleterious - low confidence	0	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:RCV000155926	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727504662		[ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25227310	A	null	M	L	72	72		missense			0.03	deleterious - low confidence	0	RASopathy				ClinVar:RCV001315183,ClinVar:RCV001857536	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509753					12p12.1	12	25227307	C	null	R	G	73	73		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	T	null	R	K	73	73		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	A	null	R	M	73	73		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs104886027					12p12.1	12	25227305	A	null	R	S	73	73		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509739					12p12.1	12	25227306	G	null	R	T	73	73		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509753					12p12.1	12	25227307	A	null	R	W	73	73		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs770020203					12p12.1	12	25227304	C	null	T	A	74	74		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951405479		[ClinVar]: Noonan syndrome			12p12.1	12	25227303	A	null	T	I	74	74		missense			0.03	deleterious - low confidence	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:RCV001261057	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs770020203		[ClinVar]: Non-immune hydrops fetalis			12p12.1	12	25227304	G	null	T	P	74	74		missense			0.0	deleterious - low confidence	1	Non-immune hydrops fetalis (NIHF)		MIM:236750		pubmed:25052315,ClinVar:RCV001375978	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs770020203					12p12.1	12	25227304	A	null	T	S	74	74		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951405479					12p12.1	12	25227303	C	null	T	S	74	74		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	G	null	G	A	75	75		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	T	null	G	E	75	75		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509701					12p12.1	12	25227301	T	null	G	R	75	75		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs780974222					12p12.1	12	25227300	A	null	G	V	75	75		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509675					12p12.1	12	25227298	A	null	E	*	76	76		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs727503107					12p12.1	12	25227296	A	null	E	D	76	76		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509675					12p12.1	12	25227298	T	null	E	K	76	76		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	G	null	G	A	77	77		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509652					12p12.1	12	25227295	A	null	G	C	77	77		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	T	null	G	D	77	77		missense			0.03	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509652					12p12.1	12	25227295	G	null	G	R	77	77		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141509652					12p12.1	12	25227295	T	null	G	S	77	77		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs756890312					12p12.1	12	25227294	A	null	G	V	77	77		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	T	null	F	I	78	78		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	G	null	F	L	78	78		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509607					12p12.1	12	25227290	T	null	F	L	78	78		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509612					12p12.1	12	25227291	G	null	F	S	78	78		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509620					12p12.1	12	25227292	C	null	F	V	78	78		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509594					12p12.1	12	25227289	A	null	L	F	79	79		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs868857258					12p12.1	12	25227288	T	null	L	H	79	79		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs868857258					12p12.1	12	25227288	G	null	L	P	79	79		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509594					12p12.1	12	25227289	C	null	L	V	79	79		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509582					12p12.1	12	25227284	T	null	C	*	80	80		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509564					12p12.1	12	25227282	G	null	V	A	81	81		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509564					12p12.1	12	25227282	T	null	V	E	81	81		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509571					12p12.1	12	25227283	T	null	V	I	81	81		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509571					12p12.1	12	25227283	A	null	V	L	81	81		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509552					12p12.1	12	25227280	T	null	F	I	82	82		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509547					12p12.1	12	25227278	T	null	F	L	82	82		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	T	null	A	D	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	C	null	A	G	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	G	null	A	P	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	A	null	A	S	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509535					12p12.1	12	25227277	T	null	A	T	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509524					12p12.1	12	25227276	A	null	A	V	83	83		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509504					12p12.1	12	25227273	T	null	I	K	84	84		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509504					12p12.1	12	25227273	G	null	I	T	84	84		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141509513		[ClinVar]: RASopathy			12p12.1	12	25227274	C	null	I	V	84	84		missense			0.3	tolerated - low confidence	0	RASopathy				ClinVar:RCV002544187	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509492					12p12.1	12	25227270	C	null	N	S	85	85		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1340281106					12p12.1	12	25227268	G	null	N	H	86	86		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509482					12p12.1	12	25227267	C	null	N	S	86	86		missense			0.11	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	A	null	T	I	87	87		missense			0.07	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	T	null	T	N	87	87		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509469					12p12.1	12	25227264	C	null	T	S	87	87		missense			0.37	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs397517038					12p12.1	12	25227263	l	null	K	null	88	88		frameshift					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs953088090					12p12.1	12	25227262	C	null	K	E	88	88		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509443					12p12.1	12	25227261	A	null	K	I	88	88		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,ExAC,TOPMed,gnomAD	rs370920665					12p12.1	12	25227260	A	null	K	N	88	88		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509407					12p12.1	12	25227258	T	null	S	*	89	89		stop gained					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509407		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227258	A	null	S	L	89	89		missense			0.0	deleterious - low confidence	1	Squamous Cell Neoplasms	From tissue: Lung, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509393					12p12.1	12	25227256	T	null	F	I	90	90		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509387					12p12.1	12	25227254	T	null	F	L	90	90		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509390					12p12.1	12	25227255	T	null	F	Y	90	90		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509373					12p12.1	12	25227251	A	null	E	D	91	91		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509380					12p12.1	12	25227253	G	null	E	Q	91	91		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509346					12p12.1	12	25227248	T	null	D	E	92	92		missense			0.04	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1437657227					12p12.1	12	25227250	G	null	D	H	92	92		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1437657227					12p12.1	12	25227250	T	null	D	N	92	92		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1437657227		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227250	A	null	D	Y	92	92		missense			0.0	deleterious - low confidence	1	Ductal and Lobular Neoplasms	From tissue: Breast, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509341					12p12.1	12	25227247	A	null	I	F	93	93		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509336					12p12.1	12	25227246	T	null	I	N	93	93		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509321					12p12.1	12	25227244	C	null	H	D	94	94		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509306					12p12.1	12	25227243	A	null	H	L	94	94		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509296					12p12.1	12	25227242	C	null	H	Q	94	94		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509306					12p12.1	12	25227243	C	null	H	R	94	94		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1309399018					12p12.1	12	25227241	C	null	H	D	95	95		missense			0.12	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1309399018					12p12.1	12	25227241	T	null	H	N	95	95		missense			0.22	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509277					12p12.1	12	25227239	T	null	H	Q	95	95		missense			1.0	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1309399018		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25227241	A	null	H	Y	95	95		missense			0.58	tolerated - low confidence	0	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509251					12p12.1	12	25227236	T	null	Y	*	96	96		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509259					12p12.1	12	25227238	G	null	Y	H	96	96		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509259					12p12.1	12	25227238	T	null	Y	N	96	96		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141509245					12p12.1	12	25227235	C	null	R	G	97	97		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs727503106					12p12.1	12	25227234	A	null	R	I	97	97		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs727503106		[ClinVar]: Non-small cell lung carcinoma			12p12.1	12	25227234	T	null	R	K	97	97		missense			0.0	deleterious - low confidence	1	Non-small cell lung carcinoma (NSCLC)				pubmed:23667368,pubmed:24627688,pubmed:24673736,pubmed:24868098,pubmed:30813707,ClinVar:RCV000150887	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506565					12p12.1	12	25225773	A	null	R	S	97	97		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs727503106					12p12.1	12	25227234	G	null	R	T	97	97		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506561					12p12.1	12	25225770	G	null	E	D	98	98		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506551					12p12.1	12	25225769	A	null	Q	*	99	99		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506551					12p12.1	12	25225769	C	null	Q	E	99	99		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506533					12p12.1	12	25225764	C	null	I	M	100	100		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506536					12p12.1	12	25225765	T	null	I	N	100	100		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506536					12p12.1	12	25225765	G	null	I	T	100	100		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506530					12p12.1	12	25225763	A	null	K	*	101	101		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506524					12p12.1	12	25225762	A	null	K	I	101	101		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506509					12p12.1	12	25225760	C	null	R	G	102	102		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506503					12p12.1	12	25225759	T	null	R	K	102	102		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506494					12p12.1	12	25225758	A	null	R	S	102	102		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506486					12p12.1	12	25225756	T	null	V	D	103	103		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	A	null	K	*	104	104		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	C	null	K	E	104	104		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506465					12p12.1	12	25225753	A	null	K	M	104	104		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1208266431					12p12.1	12	25225752	G	null	K	N	104	104		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506470					12p12.1	12	25225754	G	null	K	Q	104	104		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506431					12p12.1	12	25225749	C	null	D	E	105	105		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	G	null	D	H	105	105		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	T	null	D	N	105	105		missense			0.06	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506437					12p12.1	12	25225750	A	null	D	V	105	105		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506445					12p12.1	12	25225751	A	null	D	Y	105	105		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506420					12p12.1	12	25225748	G	null	S	P	106	106		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506420					12p12.1	12	25225748	T	null	S	T	106	106		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506389					12p12.1	12	25225743	A	null	E	D	107	107		missense			1.0	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1951384902					12p12.1	12	25225744	C	null	E	G	107	107		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506402					12p12.1	12	25225745	T	null	E	K	107	107		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506402					12p12.1	12	25225745	G	null	E	Q	107	107		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD,dbSNP	rs1264149117		[ClinVar]: RASopathy			12p12.1	12	25225740	C	null	D	E	108	108		missense			0.18	tolerated - low confidence	0	RASopathy				ClinVar:RCV002023967	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs763553461					12p12.1	12	25225742	G	null	D	H	108	108		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs763553461					12p12.1	12	25225742	T	null	D	N	108	108		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506379					12p12.1	12	25225741	A	null	D	V	108	108		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,dbSNP,gnomAD	rs763553461		[ClinVar]: RASopathy			12p12.1	12	25225742	A	null	D	Y	108	108		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV002564240	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506367					12p12.1	12	25225738	T	null	V	E	109	109		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506370					12p12.1	12	25225739	T	null	V	I	109	109		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506370					12p12.1	12	25225739	G	null	V	L	109	109		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506351					12p12.1	12	25225736	C	null	P	A	110	110		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506351		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225736	A	null	P	S	110	110		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506320					12p12.1	12	25225731	T	null	M	I	111	111		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951384675					12p12.1	12	25225732	T	null	M	K	111	111		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384733					12p12.1	12	25225733	A	null	M	L	111	111		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384675		[ClinVar]: RASopathy			12p12.1	12	25225732	G	null	M	T	111	111		missense			0.02	deleterious - low confidence	0	RASopathy				ClinVar:RCV002023088	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384733					12p12.1	12	25225733	C	null	M	V	111	111		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs775836436					12p12.1	12	25225730	T	null	V	I	112	112		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs775836436					12p12.1	12	25225730	G	null	V	L	112	112		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506302					12p12.1	12	25225726	T	null	L	Q	113	113		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506292					12p12.1	12	25225723	T	null	V	E	114	114		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506296					12p12.1	12	25225724	T	null	V	I	114	114		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506296					12p12.1	12	25225724	G	null	V	L	114	114		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	G	null	G	A	115	115		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	T	null	G	E	115	115		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506277					12p12.1	12	25225721	T	null	G	R	115	115		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506270					12p12.1	12	25225720	A	null	G	V	115	115		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141506264					12p12.1	12	25225718	G	null	N	H	116	116		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506254					12p12.1	12	25225716	T	null	N	K	116	116		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs202247812		[ClinVar]: Noonan syndrome 1			12p12.1	12	25225717	C	null	N	S	116	116		missense			0.0	deleterious - low confidence	0	Noonan syndrome 1 (NS1)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV000144422	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs202247812					12p12.1	12	25225717	G	null	N	T	116	116		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506243		[NCI-TCGA]: Variant assessed as Somatic; HIGH impact.			12p12.1	12	25225715	A	null	K	*	117	117		stop gained					1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506243					12p12.1	12	25225715	C	null	K	E	117	117		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506236		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225714	A	null	K	I	117	117		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001731671	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS From tissue: Hepatic flexure of colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cecum From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Descending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Neoplasm				pubmed:22918138,pubmed:23619274,pubmed:34131312,ClinVar:RCV004668924	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs770248150		[UniProt]: colorectal cancer samples; somatic mutation, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Neoplasm, [ClinVar]: Encephalocraniocutaneous lipomatosis	pubmed:16959974,pubmed:34820593		12p12.1	12	25225713	A	null	K	N	117	117		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506205					12p12.1	12	25225710	T	null	C	*	118	118		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384421					12p12.1	12	25225711	A	null	C	F	118	118		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Gastric cancer		MIM:613659		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	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:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001352126	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951384485		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225712	G	null	C	R	118	118		missense			0.0	deleterious - low confidence	0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005005867	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384421		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225711	G	null	C	S	118	118		missense			0.05	tolerated - low confidence	1	Squamous Cell Neoplasms	From tissue: Lower lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384421					12p12.1	12	25225711	T	null	C	Y	118	118		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951384352					12p12.1	12	25225707	T	null	D	E	119	119		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs730880471		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	G	null	D	H	119	119		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs730880471		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	G	null	D	H	119	119		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Acute myeloid leukemia (AML)	CEBPA-associated familial acute myeloid leukemia (AML) is defined as the presence of a heterozygous germline CEBPA pathogenic variant in an individual with AML and/or family in which more than one individual has AML.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,ClinVar:RCV000850568	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000850568	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000850568	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs730880471		[ClinVar]: Noonan syndrome 3, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225709	T	null	D	N	119	119		missense			0.0	deleterious - low confidence	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:RCV000850568,ClinVar:RCV000999628	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506192					12p12.1	12	25225708	A	null	D	V	119	119		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506171					12p12.1	12	25225705	T	null	L	*	120	120		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506164					12p12.1	12	25225704	G	null	L	F	120	120		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506181					12p12.1	12	25225706	T	null	L	M	120	120		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	C	null	P	A	121	121		missense			0.36	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	T	null	P	H	121	121		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	A	null	P	L	121	121		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506147					12p12.1	12	25225702	C	null	P	R	121	121		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	A	null	P	S	121	121		missense			0.07	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506158					12p12.1	12	25225703	T	null	P	T	121	121		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	C	null	S	C	122	122		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	A	null	S	F	122	122		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506136					12p12.1	12	25225700	T	null	S	T	122	122		missense			0.73	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506126					12p12.1	12	25225699	T	null	S	Y	122	122		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506118		[NCI-TCGA]: Variant assessed as Somatic; HIGH impact.			12p12.1	12	25225697	A	null	R	*	123	123		missense					1	Squamous Cell Neoplasms	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	A	null	R	I	123	123		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	T	null	R	K	123	123		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506105					12p12.1	12	25225695	A	null	R	S	123	123		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951384303					12p12.1	12	25225696	G	null	R	T	123	123		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	C	null	T	A	124	124	0.000196232	missense			0.15	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555193856					12p12.1	12	25225693	A	null	T	I	124	124		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	G	null	T	P	124	124	0.000196232	missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1555193856					12p12.1	12	25225693	C	null	T	R	124	124		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,ExAC,gnomAD	rs575569675					12p12.1	12	25225694	A	null	T	S	124	124	0.000196232	missense			0.11	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506065					12p12.1	12	25225690	G	null	V	A	125	125		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506065					12p12.1	12	25225690	T	null	V	E	125	125		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506073					12p12.1	12	25225691	T	null	V	I	125	125		missense			0.03	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506073					12p12.1	12	25225691	G	null	V	L	125	125		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1300504131					12p12.1	12	25225686	C	null	D	E	126	126		missense			0.36	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	G	null	D	H	126	126		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	T	null	D	N	126	126		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506045					12p12.1	12	25225687	A	null	D	V	126	126		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1363431968					12p12.1	12	25225688	A	null	D	Y	126	126		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs781634879					12p12.1	12	25225684	C	null	T	R	127	127		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506032					12p12.1	12	25225685	A	null	T	S	127	127		missense			0.34	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs746609817					12p12.1	12	25225681	A	null	K	I	128	128		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141506000					12p12.1	12	25225680	A	null	K	N	128	128		missense			0.09	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs746609817					12p12.1	12	25225681	C	null	K	R	128	128		missense			0.58	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505995					12p12.1	12	25225679	A	null	Q	*	129	129		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505982					12p12.1	12	25225677	A	null	Q	H	129	129		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505990					12p12.1	12	25225678	C	null	Q	R	129	129		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,gnomAD	rs730880473					12p12.1	12	25225675	T	null	A	D	130	130		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,gnomAD	rs730880473					12p12.1	12	25225675	C	null	A	G	130	130		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Gastric cancer		MIM:613659		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	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:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001350656	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1951383854		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225675_25225676delin	T	null	A	I	130	130		missense			0.0	deleterious - low confidence	0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005005200	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	G	null	A	P	130	130		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	A	null	A	S	130	130		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1463850736					12p12.1	12	25225676	T	null	A	T	130	130		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	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:RCV000349904	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	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:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	RASopathy				ClinVar:RCV001368828	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs730880473		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy, [ClinVar]: Noonan syndrome			12p12.1	12	25225675	A	null	A	V	130	130		missense			0.04	deleterious - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV002478474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505931					12p12.1	12	25225673	A	null	Q	*	131	131		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505931					12p12.1	12	25225673	C	null	Q	E	131	131		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505910					12p12.1	12	25225671	A	null	Q	H	131	131		missense			0.15	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951383665					12p12.1	12	25225672	A	null	Q	L	131	131		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951383665					12p12.1	12	25225672	C	null	Q	R	131	131		missense			0.12	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505889					12p12.1	12	25225669	G	null	D	A	132	132		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505878					12p12.1	12	25225668	C	null	D	E	132	132		missense			0.88	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505902					12p12.1	12	25225670	G	null	D	H	132	132		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505902					12p12.1	12	25225670	T	null	D	N	132	132		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505889					12p12.1	12	25225669	A	null	D	V	132	132		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505858					12p12.1	12	25225666	T	null	L	*	133	133		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505866					12p12.1	12	25225667	T	null	L	I	133	133		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,TOPMed,dbSNP	rs373500216					12p12.1	12	25225663	C	null	A	G	134	134		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565884227					12p12.1	12	25225664	G	null	A	P	134	134		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565884227					12p12.1	12	25225664	A	null	A	S	134	134		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1565884227					12p12.1	12	25225664	T	null	A	T	134	134		missense			0.02	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,TOPMed	rs373500216					12p12.1	12	25225663	A	null	A	V	134	134		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505814					12p12.1	12	25225661	A	null	R	*	135	135		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951383559					12p12.1	12	25225660	T	null	R	K	135	135		missense			0.57	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951383559		[NCI-TCGA]: Variant assessed as Somatic; MODERATE impact.			12p12.1	12	25225660	G	null	R	T	135	135		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Body of stomach				
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,gnomAD	rs757816355					12p12.1	12	25225657	A	null	S	I	136	136		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Gastric cancer		MIM:613659		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	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:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	RASopathy				ClinVar:RCV001868002	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs757816355		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25225657	T	null	S	N	136	136		missense			0.07	tolerated - low confidence	1	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005010589	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505781					12p12.1	12	25225656	T	null	S	R	136	136		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,gnomAD	rs757816355					12p12.1	12	25225657	G	null	S	T	136	136		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,gnomAD	rs752731198					12p12.1	12	25225653	T	null	Y	*	137	137		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505766					12p12.1	12	25225654	A	null	Y	F	137	137		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505773					12p12.1	12	25225655	G	null	Y	H	137	137		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	G	null	G	A	138	138		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	T	null	G	E	138	138		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs778702415					12p12.1	12	25225652	T	null	G	R	138	138		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs754870563					12p12.1	12	25225651	A	null	G	V	138	138		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	C	null	P	A	140	140		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	T	null	P	H	140	140		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	A	null	P	L	140	140		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505721					12p12.1	12	25225645	C	null	P	R	140	140		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	A	null	P	S	140	140		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505727					12p12.1	12	25225646	T	null	P	T	140	140		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505704					12p12.1	12	25225643	T	null	F	I	141	141		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,ExAC,TOPMed,gnomAD	rs138669124					12p12.1	12	25225641	T	null	F	L	141	141		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505698					12p12.1	12	25225642	T	null	F	Y	141	141		missense			0.5	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1344202459					12p12.1	12	25225639	G	null	I	T	142	142		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	A	null	E	*	143	143		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505650					12p12.1	12	25225635	A	null	E	D	143	143		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505655					12p12.1	12	25225636	C	null	E	G	143	143		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	T	null	E	K	143	143		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505672					12p12.1	12	25225637	G	null	E	Q	143	143		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505655					12p12.1	12	25225636	A	null	E	V	143	143		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505644					12p12.1	12	25225634	C	null	T	A	144	144		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505638					12p12.1	12	25225633	A	null	T	I	144	144		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505638					12p12.1	12	25225633	C	null	T	R	144	144		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505644					12p12.1	12	25225634	A	null	T	S	144	144		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505617					12p12.1	12	25225630	C	null	S	*	145	145		stop gained					0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505617					12p12.1	12	25225630	A	null	S	L	145	145		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505627					12p12.1	12	25225631	T	null	S	T	145	145		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1057519725					12p12.1	12	25225627	T	null	A	E	146	146		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1057519725					12p12.1	12	25225627	C	null	A	G	146	146		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Upper lobe, lung				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV002259922	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Multiple myeloma (MM)		MIM:254500		ClinVar:RCV000984134	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Autoimmune lymphoproliferative syndrome type 4, [ClinVar]: Multiple myeloma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy			12p12.1	12	25225628	G	null	A	P	146	146		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV001861474	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: RASopathy			12p12.1	12	25225628	A	null	A	S	146	146		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000473918	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cervix uteri				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Ascending colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectum, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS;Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Sigmoid colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Cardia, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Stomach, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Rectosigmoid junction				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Gastric antrum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV004554743	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Classic Hodgkin lymphoma (CHL)		MIM:236000		ClinVar:RCV002227934	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Rectosigmoid junction				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Transverse colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Cecum				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839448	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Myeloid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791298	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs121913527		[ClinVar]: Classic Hodgkin lymphoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: RASopathy, [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [UniProt]: OES; somatic mutation; also found in colorectal cancer samples, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:16959974,pubmed:26970110,pubmed:30891959,pubmed:34820593	pubmed:25251940,pubmed:26970110,pubmed:30891959	12p12.1	12	25225628	T	null	A	T	146	146		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV001852208	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Acute Lymphoblastic Leukemia	From tissue: Blood				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Colon, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Endometrium				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Adenomas and Adenocarcinomas	From tissue: Uterus, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Cystic, Mucinous and Serous Neoplasms	From tissue: Sigmoid colon				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Encephalocraniocutaneous lipomatosis (ECCL)	Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies.	MIM:613001		pubmed:35099867,ClinVar:RCV001839452	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV004760489	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Germ Cell Neoplasms	From tissue: Testis, NOS				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Lymphoid Leukemias	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV003332167	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	OCULOECTODERMAL SYNDROME, SOMATIC				ClinVar:RCV000791299	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Oculoectodermal syndrome (OES)	A syndrome characterized by the association of epibulbar dermoids and aplasia cutis congenita. Affected individuals show multiple, asymmetric, atrophic, non-scarring and hairless regions that may be associated with hamartomas. Ectodermal changes include linear hyperpigmentation that may follow the lines of Blaschko and rarely epidermal nevus-like lesions. Epibulbar dermoids may be uni-or bilateral. Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. The phenotypic expression is highly variable, and various other abnormalities have occasionally been reported including growth failure, lymphedema, cardiovascular defects, as well as neurodevelopmental symptoms like developmental delay, epilepsy, learning difficulties, and behavioral abnormalities. Benign tumor-like lesions such as nonossifying fibromas of the long bones and giant cell granulomas of the jaws have repeatedly been observed and appear to be age-dependent, becoming a common manifestation in individuals aged 5 years or older.	MIM:600268	pubmed:25808193,pubmed:26970110,pubmed:30891959		
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	Plasma Cell Tumors	From tissue: Bone marrow				
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1057519725		[UniProt]: OES; somatic mutation, [ClinVar]: Familial pancreatic carcinoma, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: OCULOECTODERMAL SYNDROME, SOMATIC, [ClinVar]: RASopathy, [ClinVar]: Encephalocraniocutaneous lipomatosis, [ClinVar]: Malignant tumor of urinary bladder	pubmed:26970110,pubmed:30891959	pubmed:26970110,pubmed:30891959	12p12.1	12	25225627	A	null	A	V	146	146		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV002524688	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs387907206		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25225625	C	null	K	E	147	147		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.	MIM:615278	pubmed:16474404,pubmed:16474405,pubmed:17056636,pubmed:20949621,pubmed:21797849		
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs387907206		[UniProt]: CFC2, [ClinVar]: Cardiofaciocutaneous syndrome 2	pubmed:21797849	pubmed:21797849,pubmed:23059812	12p12.1	12	25225625	C	null	K	E	147	147		missense					1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000024618	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505570					12p12.1	12	25225623	G	null	K	N	147	147		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1135401776		[ClinVar]: Noonan syndrome 3			12p12.1	12	25225624	C	null	K	R	147	147		missense			0.03	deleterious - low confidence	0	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:RCV000496202	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505559					12p12.1	12	25225621	C	null	T	R	148	148		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505566					12p12.1	12	25225622	A	null	T	S	148	148		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141505552		[ClinVar]: Thyroid cancer, nonmedullary, 1			12p12.1	12	25225619	A	null	R	*	149	149		stop gained					1	Thyroid cancer, nonmedullary, 1		MIM:188550		ClinVar:RCV001789706	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505546					12p12.1	12	25225618	T	null	R	K	149	149		missense			0.0	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1951382657					12p12.1	12	25225617	A	null	R	S	149	149		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505546					12p12.1	12	25225618	G	null	R	T	149	149		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505533					12p12.1	12	25225616	A	null	Q	*	150	150		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505533					12p12.1	12	25225616	C	null	Q	E	150	150		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505516					12p12.1	12	25225614	G	null	Q	H	150	150		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505520					12p12.1	12	25225615	A	null	Q	L	150	150		missense			0.03	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141505520					12p12.1	12	25225615	C	null	Q	R	150	150		missense			0.02	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141481755					12p12.1	12	25209911	A	null	G	C	151	151		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,gnomAD	rs104894367		[Ensembl]: Noonan syndrome 3 (ns3)			12p12.1	12	25209907	G	null	V	A	152	152		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs397517041		[ClinVar]: Noonan syndrome			12p12.1	12	25209908	A	null	V	F	152	152		missense			0.01	deleterious - low confidence	0	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:RCV000038273	
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,dbSNP,gnomAD	rs104894367		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3		pubmed:16773572	12p12.1	12	25209907	C	null	V	G	152	152		missense			0.01	deleterious - low confidence	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:RCV000013422	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: KRAS-related disorder			12p12.1	12	25209904	C	null	D	G	153	153		missense			0.02	deleterious - low confidence	0	KRAS-related disorder				ClinVar:RCV004739314	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: KRAS-related disorder			12p12.1	12	25209904	C	null	D	G	153	153		missense			0.02	deleterious - low confidence	0	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:RCV000038274	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: KRAS-related disorder			12p12.1	12	25209904	C	null	D	G	153	153		missense			0.02	deleterious - low confidence	0	RASopathy				ClinVar:RCV000526276	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1565878932					12p12.1	12	25209905	T	null	D	N	153	153		missense			0.01	deleterious - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Acute myeloid leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues.	MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Carcinoma of pancreas				pubmed:17060676,pubmed:24493721,pubmed:25394175,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000844634	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013417,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Hereditary diffuse gastric adenocarcinoma (HDGC)	Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma that infiltrates into the stomach wall causing thickening of the wall (linitis plastica) without forming a distinct mass.	MIM:137215		pubmed:17392385,pubmed:20065170,pubmed:20301318,pubmed:22388873,pubmed:25394175,pubmed:25645574,pubmed:26324357,pubmed:26389210,pubmed:26389258,pubmed:32758476,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Lung carcinoma				pubmed:23562183,pubmed:23667368,pubmed:24627688,pubmed:24846033,pubmed:25311215,pubmed:29355391,pubmed:29398453,pubmed:30813707,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	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:RCV000523200,ClinVar:RCV000844634	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	Noonan syndrome 1 (NS1)	Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree.	MIM:163950		pubmed:20301303,pubmed:20876176,pubmed:25173338,ClinVar:RCV003450634	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	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:RCV000013418,ClinVar:RCV000763307	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894360		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 1, [ClinVar]: Noonan syndrome 3, [ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2		pubmed:16474404,pubmed:16474405	12p12.1	12	25209904	A	null	D	V	153	153		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV000157940	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1565878932					12p12.1	12	25209905	A	null	D	Y	153	153		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141481712		[ClinVar]: Hereditary breast ovarian cancer syndrome			12p12.1	12	25209901	C	null	D	G	154	154		missense			0.01	deleterious - low confidence	0	Hereditary breast ovarian cancer syndrome	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.			pubmed:12692171,pubmed:15604628,pubmed:17392385,pubmed:17508274,pubmed:18163131,pubmed:19305347,pubmed:20065170,pubmed:20301425,pubmed:23188549,pubmed:23788249,pubmed:23918944,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:24493721,pubmed:25356965,pubmed:26324357,pubmed:26389258,pubmed:27854360,pubmed:31429903,pubmed:31479213,pubmed:33410258,ClinVar:RCV001374475	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs755177746					12p12.1	12	25209898	C	null	A	G	155	155		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs397517042		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome			12p12.1	12	25209896	T	null	F	I	156	156		missense			0.0	deleterious - low confidence	0	Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:PS115150		pubmed:20301365,ClinVar:RCV000150884	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs397517042		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome			12p12.1	12	25209896	T	null	F	I	156	156		missense			0.0	deleterious - low confidence	0	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:RCV000150884	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs397517042		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome 3, [ClinVar]: Noonan syndrome			12p12.1	12	25209896	T	null	F	I	156	156		missense			0.0	deleterious - low confidence	0	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:RCV001813760	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894362		[ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: KRAS-related disorder		pubmed:17056636,pubmed:18386799	12p12.1	12	25209894	T	null	F	L	156	156		missense			0.02	deleterious - low confidence	1	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV000013426	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894362		[ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: KRAS-related disorder		pubmed:17056636,pubmed:18386799	12p12.1	12	25209894	T	null	F	L	156	156		missense			0.02	deleterious - low confidence	1	KRAS-related disorder				ClinVar:RCV004549359	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs104894362		[ClinVar]: RASopathy, [ClinVar]: Cardiofaciocutaneous syndrome 2, [ClinVar]: KRAS-related disorder		pubmed:17056636,pubmed:18386799	12p12.1	12	25209894	T	null	F	L	156	156		missense			0.02	deleterious - low confidence	1	RASopathy				ClinVar:RCV001205658	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs397517042		[Ensembl]: Noonan syndrome 3 (ns3), [ClinVar]: Noonan syndrome			12p12.1	12	25209896	C	null	F	V	156	156		missense			0.01	deleterious - low confidence	0	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:RCV000038275	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs794727720		[ClinVar]: RASopathy			12p12.1	12	25209892	C	null	Y	C	157	157		missense			0.0	deleterious - low confidence	1	RASopathy				ClinVar:RCV002517746	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951184637					12p12.1	12	25209889	A	null	T	I	158	158		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs757674707					12p12.1	12	25209884	T	null	V	I	160	160		missense			0.01	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1951184515					12p12.1	12	25209881	A	null	R	*	161	161		missense					1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141481655		[ClinVar]: RASopathy			12p12.1	12	25209880	T	null	R	Q	161	161		missense			0.0	deleterious - low confidence	0	RASopathy				ClinVar:RCV001873056	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Gastric cancer		MIM:613659		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	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:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	RASopathy				ClinVar:RCV001204022	
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1470495974		[ClinVar]: Familial cancer of breast, [ClinVar]: RASopathy			12p12.1	12	25209875	C	null	I	V	163	163		missense			0.02	deleterious - low confidence	0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005012598	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs1555192443		[ClinVar]: Noonan syndrome 3			12p12.1	12	25209872	A	null	R	*	164	164		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:RCV000659837	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,ExAC,TOPMed,dbSNP,gnomAD	rs372793780		[ClinVar]: RASopathy			12p12.1	12	25209871	T	null	R	Q	164	164		missense			0.02	deleterious - low confidence	1	RASopathy				ClinVar:RCV000693941	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs1951184282					12p12.1	12	25209869	G	null	K	Q	165	165		missense			0.9	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1417039463					12p12.1	12	25209862	C	null	K	R	167	167		missense			0.43	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,ExAC,dbSNP,gnomAD	rs369501492		[ClinVar]: RASopathy			12p12.1	12	25209854	A	null	M	L	170	170		missense			1.0	tolerated - low confidence	0	RASopathy				ClinVar:RCV001030089	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ESP,ExAC,gnomAD	rs369501492					12p12.1	12	25209854	C	null	M	V	170	170		missense			0.3	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141481590					12p12.1	12	25209849	T	null	S	R	171	171		missense			0.12	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl,dbSNP	rs2141481585					12p12.1	12	25209846	G	null	K	N	172	172		missense			0.14	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	1000Genomes,ESP,ExAC,TOPMed,gnomAD	rs1137282					12p12.1	12	25209843	T	null	D	E	173	173		missense			0.76	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141481569					12p12.1	12	25209841	T	null	G	D	174	174		missense			0.67	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs900508259					12p12.1	12	25209842	T	null	G	S	174	174		missense			0.33	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,TOPMed,dbSNP,gnomAD	rs763736188		[ClinVar]: RASopathy			12p12.1	12	25209826	C	null	K	R	179	179		missense			0.44	tolerated - low confidence	0	RASopathy				ClinVar:RCV001910390	
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs762532538					12p12.1	12	25209822	G	null	K	N	180	180		missense			0.54	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs749587181		[ClinVar]: RASopathy			12p12.1	12	25209822CTT	]	null	K	null	180	180		inframe deletion					0	RASopathy				ClinVar:RCV001441177	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs397517043		[ClinVar]: Primary familial hypertrophic cardiomyopathy			12p12.1	12	25209831CTT	]	null	K	KK	180	180		insertion					0	Primary familial hypertrophic cardiomyopathy (HCM)		MIM:PS192600		pubmed:14607462,pubmed:20301725,pubmed:21810866,pubmed:25173338,ClinVar:RCV000143908	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1373386042		[ClinVar]: Toriello-Lacassie-Droste syndrome			12p12.1	12	25209828_25209830	l	null	K	null	180	180		inframe deletion					0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV001197454	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs397517043		[ClinVar]: RASopathy, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: KRAS-related disorder			12p12.1	12	25209831CTT	]	null	K	null	180	180		inframe deletion					0	KRAS-related disorder				ClinVar:RCV004549455	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs397517043		[ClinVar]: RASopathy, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: KRAS-related disorder			12p12.1	12	25209831CTT	]	null	K	null	180	180		inframe deletion					0	Noonan syndrome and Noonan-related syndrome				ClinVar:RCV001813343	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs397517043		[ClinVar]: RASopathy, [ClinVar]: Noonan syndrome and Noonan-related syndrome, [ClinVar]: KRAS-related disorder			12p12.1	12	25209831CTT	]	null	K	null	180	180		inframe deletion					0	RASopathy				ClinVar:RCV000465001	
P01116-2	KRAS	Isoform 2B of GTPase KRas	Ensembl	rs2141481522					12p12.1	12	25209821	T	null	S	T	181	181		missense			0.69	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Acute myeloid leukemia (AML)		MIM:601626		pubmed:20963938,pubmed:22138009,pubmed:23970018,pubmed:32171751,pubmed:33226740,pubmed:33661592,pubmed:34723452,ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Autoimmune lymphoproliferative syndrome type 4		MIM:614470		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Cardiofaciocutaneous syndrome 2 (CFC2)	Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis).	MIM:615278		pubmed:20301365,ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Cerebral arteriovenous malformation (BAVM)		MIM:108010		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Familial cancer of breast	BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (including fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant.	MIM:114480		pubmed:15604628,pubmed:17508274,pubmed:18163131,pubmed:20301425,pubmed:24366376,pubmed:24366402,pubmed:24432435,pubmed:26389210,pubmed:26389258,pubmed:31429903,pubmed:31479213,pubmed:34012068,pubmed:34242744,pubmed:35802134,ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Familial pancreatic carcinoma		MIM:260350		pubmed:25645574,pubmed:31672839,ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Gastric cancer		MIM:613659		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Linear nevus sebaceous syndrome	Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al.	MIM:163200		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Lung cancer		MIM:211980		pubmed:29398453,ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Malignant tumor of urinary bladder		MIM:109800		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	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:RCV000761136	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	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:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	RASopathy				ClinVar:RCV000804507	
P01116-2	KRAS	Isoform 2B of GTPase KRas	dbSNP	rs1339924833		[ClinVar]: Familial cancer of breast, [ClinVar]: Noonan syndrome, [ClinVar]: RASopathy			12p12.1	12	25209815_25209820	l	null	TK	null	183	184		inframe deletion					0	Toriello-Lacassie-Droste syndrome		MIM:600268		ClinVar:RCV005004406	
P01116-2	KRAS	Isoform 2B of GTPase KRas	gnomAD	rs1256144582					12p12.1	12	25209814	T	null	T	K	183	183		missense			0.66	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	ExAC,gnomAD	rs775000854					12p12.1	12	25209808	T	null	C	Y	185	185		missense			0.0	deleterious - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1432921036					12p12.1	12	25209806	T	null	V	I	186	186		missense			0.55	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,dbSNP,gnomAD	rs1432921036					12p12.1	12	25209806	A	null	V	L	186	186		missense			0.09	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed	rs1233599652					12p12.1	12	25209803	C	null	I	V	187	187		missense			0.84	tolerated - low confidence	0						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1336314580					12p12.1	12	25209798	T	null	M	I	188	188		missense			0.09	tolerated - low confidence	1						
P01116-2	KRAS	Isoform 2B of GTPase KRas	TOPMed,gnomAD	rs1274851618					12p12.1	12	25209800	C	null	M	V	188	188		missense			0.03	deleterious - low confidence	0