AiPD: Autoinhibited Protein Database

P42336

Gene name	PIK3CA
Protein name	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Names	PI3-kinase subunit alpha, PI3K-alpha, PI3Kalpha, PtdIns-3-kinase subunit alpha, Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha, PtdIns-3-kinase subunit p110-alpha, p110alpha, Phosphoinositide 3-kinase alpha, Phosphoinositide-3-kinase catalytic alpha polypeptide, Serine/threonine protein kinase PIK3CA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5290
EC number	2.7.1.137: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

427-568 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

427-568 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

933-957 (Activation loop from InterPro)

Target domain	695-1064 (Catalytic domain of Class IA Phosphoinositide 3-kinase alpha)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

99 structures for P42336

Entry ID	Method	Resolution	Chain	Position	Source
2ENQ	NMR	-	A	331-481	PDB
2RD0	X-ray	305 A	A	1-1068	PDB
3HHM	X-ray	280 A	A	1-1068	PDB
3HIZ	X-ray	330 A	A	1-1068	PDB
3ZIM	X-ray	285 A	A	107-1046	PDB
4JPS	X-ray	220 A	A	1-1068	PDB
4L1B	X-ray	259 A	A	1-1068	PDB
4L23	X-ray	250 A	A	1-1068	PDB
4L2Y	X-ray	280 A	A	1-1068	PDB
4OVU	X-ray	296 A	A	1-1068	PDB
4OVV	X-ray	350 A	A	1-1068	PDB
4TUU	X-ray	264 A	A	105-1048	PDB
4TV3	X-ray	285 A	A	105-1048	PDB
4WAF	X-ray	239 A	A	2-1068	PDB
4YKN	X-ray	290 A	A	2-1068	PDB
4ZOP	X-ray	262 A	A	1-1068	PDB
5DXH	X-ray	300 A	A/D	2-1068	PDB
5DXT	X-ray	225 A	A	107-1068	PDB
5FI4	X-ray	250 A	A	1-1068	PDB
5ITD	X-ray	302 A	A	1-1068	PDB
5SW8	X-ray	330 A	A	1-1068	PDB
5SWG	X-ray	311 A	A	1-1068	PDB
5SWO	X-ray	350 A	A	1-1068	PDB
5SWP	X-ray	341 A	A	1-1068	PDB
5SWR	X-ray	331 A	A	1-1068	PDB
5SWT	X-ray	349 A	A	1-1068	PDB
5SX8	X-ray	347 A	A	1-1068	PDB
5SX9	X-ray	352 A	A	1-1068	PDB
5SXA	X-ray	335 A	A	1-1068	PDB
5SXB	X-ray	330 A	A	1-1068	PDB
5SXC	X-ray	355 A	A	1-1068	PDB
5SXD	X-ray	350 A	A	1-1068	PDB
5SXE	X-ray	351 A	A	1-1068	PDB
5SXF	X-ray	346 A	A	1-1068	PDB
5SXI	X-ray	340 A	A	1-1068	PDB
5SXJ	X-ray	342 A	A	1-1068	PDB
5SXK	X-ray	355 A	A	1-1068	PDB
5UBR	X-ray	240 A	A	107-1050	PDB
5UK8	X-ray	250 A	A	1-1068	PDB
5UKJ	X-ray	280 A	A	1-1068	PDB
5UL1	X-ray	300 A	A	1-1068	PDB
5XGH	X-ray	297 A	A	8-1055	PDB
5XGI	X-ray	256 A	A	8-1059	PDB
5XGJ	X-ray	297 A	A	8-1055	PDB
6GVF	X-ray	250 A	A	107-1051	PDB
6GVG	X-ray	300 A	A	107-1068	PDB
6GVH	X-ray	274 A	A	107-1068	PDB
6GVI	X-ray	290 A	A	107-1068	PDB
6NCT	X-ray	335 A	A	1-1068	PDB
6OAC	X-ray	315 A	A	105-1048	PDB
6PYS	X-ray	219 A	A	107-1051	PDB
6VO7	X-ray	231 A	A	157-300	PDB
7JIU	X-ray	212 A	A	107-1052	PDB
7K6M	X-ray	241 A	A	105-1048	PDB
7K6N	X-ray	277 A	A	105-1048	PDB
7K6O	X-ray	274 A	A	105-1048	PDB
7K71	X-ray	290 A	A	105-1048	PDB
7L1B	X-ray	204 A	C	1046-1054	PDB
7L1C	X-ray	196 A	C	1046-1054	PDB
7L1D	X-ray	311 A	C	1046-1054	PDB
7MLK	X-ray	291 A	A	105-1048	PDB
7MYN	EM	279 A	A	1-1068	PDB
7MYO	EM	292 A	A	1-1068	PDB
7PG5	X-ray	220 A	A	1-1068	PDB
7PG6	X-ray	250 A	A	1-1068	PDB
7R9V	X-ray	269 A	A	105-1048	PDB
7R9Y	X-ray	285 A	A	105-1048	PDB
7RRG	X-ray	212 A	C	1046-1054	PDB
7TZ7	X-ray	241 A	A	1-1068	PDB
8AM0	X-ray	282 A	A	1-1068	PDB
8BFU	X-ray	241 A	A	105-1048	PDB
8DCP	EM	241 A	A	1-1068	PDB
8DCX	EM	280 A	A	1-1068	PDB
8DD4	EM	310 A	A	1-1068	PDB
8DD8	EM	340 A	A	1-1068	PDB
8EXL	X-ray	199 A	A	7-1052	PDB
8EXO	X-ray	246 A	A	7-1052	PDB
8EXU	X-ray	268 A	A	7-1052	PDB
8EXV	X-ray	248 A	A	7-1052	PDB
8GUA	EM	277 A	A	1-1068	PDB
8GUB	EM	273 A	A	1-1068	PDB
8GUD	EM	262 A	A	1-1068	PDB
8ILR	EM	305 A	A	1-1068	PDB
8ILS	EM	310 A	A	1-1068	PDB
8ILV	EM	319 A	A	1-1068	PDB
8OW2	X-ray	257 A	A	105-1048	PDB
8SBC	X-ray	230 A	A	1-1068	PDB
8SBJ	X-ray	310 A	A	1-1068	PDB
8TDU	X-ray	311 A	A/C	1-1068	PDB
8TGD	X-ray	293 A	A/C	1-1068	PDB
8TS7	X-ray	271 A	A	2-1053	PDB
8TS8	X-ray	272 A	A	2-1053	PDB
8TS9	X-ray	283 A	A	2-1050	PDB
8TSA	X-ray	251 A	A	2-1050	PDB
8TSB	X-ray	353 A	A	2-1053	PDB
8TSC	X-ray	362 A	A	2-1050	PDB
8TSD	X-ray	270 A	A	2-1053	PDB
8TU6	EM	312 A	A	2-1068	PDB
AF-P42336-F1	Predicted				AlphaFoldDB

566 variants for P42336

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001047554 rs1724332515 RCV001262942 RCV001196519	1	M>V	Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Epidermal nevus [ClinVar]	Yes	ClinVar dbSNP
RCV000690023 rs1560137030	10	L>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA355270487 RCV000805736 rs1576931874	14	H>Y	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1724335079 RCV002374978 RCV001066888	31	I>L	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000436615 RCV000430080 RCV001789775 RCV001861480 rs749415085 RCV000425934 RCV000420206 CA2710497 COSM1041448 RCV000440934 RCV000419353	38	R>C	Malignant neoplasm of body of uterus upper_aerodigestive_tract Neoplasm of uterine cervix Glioblastoma Colorectal cancer endometrium Gastric adenocarcinoma Cowden syndrome ovary Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma large_intestine Neoplasm of the large intestine [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000427069 COSM1736101 CA16602928 rs749415085 RCV000420508 RCV000437732 RCV000436970 RCV000431174 RCV000419739	38	R>G	Malignant neoplasm of body of uterus Squamous cell lung carcinoma Neoplasm of uterine cervix Glioblastoma central_nervous_system Neoplasm of the large intestine Gastric adenocarcinoma [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000443605 RCV000431951 RCV000418734 CA2710498 RCV000425403 COSM1041449 rs772110575 RCV000436118 VAR_026166 RCV000424742	38	R>H	Malignant neoplasm of body of uterus Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma Neoplasm of uterine cervix Glioblastoma central_nervous_system endometrium Gastric adenocarcinoma Neoplasm of the large intestine CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000425565 rs772110575 RCV000432150 RCV000426273 COSM729833 RCV000442897 CA16602927 RCV000442990 RCV000432808	38	R>L	lung Malignant neoplasm of body of uterus Squamous cell lung carcinoma Neoplasm of uterine cervix Glioblastoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Gastric adenocarcinoma [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
COSM1041447 RCV000421528 RCV000424314 CA16602926 RCV000431544 rs749415085 RCV000430901 RCV000441606 RCV000438739	38	R>S	Malignant neoplasm of body of uterus Squamous cell lung carcinoma Neoplasm of uterine cervix Glioblastoma Variant assessed as Somatic; impact. endometrium Gastric adenocarcinoma Neoplasm of the large intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000537569 rs768265254 CA2710501	47	H>Q	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000460046 RCV002223207 CA2710500 rs190372148	47	H>R	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001071905 rs1724336565	47	H>Y	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA355271373 RCV000557885 rs1553820355	52	E>Q	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA355271609 rs1480626654 RCV001205732	59	H>P	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355271601 RCV001204192 rs1266632047	59	H>Y	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs71310379 RCV000631212 CA2710504 RCV000998159	60	Q>K	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201269904 CA2710510 RCV002528307 RCV000529008	71	V>I	Cowden syndrome Variant assessed as Somatic; 9.279e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1560137176 CA355272051 RCV000687483 COSM3364897	72	S>G	Cowden syndrome kidney [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000438199 VAR_069251 CA16602912 RCV001837893 RCV000430702 COSM271871 RCV000426861 RCV000436699 RCV000419439 RCV002524695 rs1057519929 RCV000420013 RCV001542570 RCV000438786 RCV001526599 RCV001327958 RCV000418157 RCV000431022	81	E>K	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma central_nervous_system endometrium Lung adenocarcinoma lung Cowden syndrome kidney Squamous cell carcinoma of the head and neck CLOVES syndrome Medulloblastoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Megalencephaly-capillary malformation-polymicrogyria syndrome breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm MCAP [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000709697 rs1560137208 CA355272265 VAR_081475	83	F>S	Variant assessed as Somatic; impact. CLAPO syndrome CLAPO; unknown pathological significance; somatic mutation [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000443055 RCV002274026 RCV000429274 RCV000418599 RCV000440543 rs121913287 COSM271684 RCV000423359 RCV000429870 RCV001224952 CA16602516 RCV000423992 RCV000439879 RCV001562650 RCV000422647 RCV000434047 RCV002275002 VAR_026167 RCV000785354	88	R>Q	Malignant neoplasm of body of uterus PIK3CA related overgrowth syndrome Glioblastoma urinary_tract endometrium central_nervous_system Gastric adenocarcinoma Prostate adenocarcinoma Cowden syndrome Squamous cell carcinoma of the head and neck Uterine carcinosarcoma pancreas large_intestine Variant assessed as Somatic; impact. Neoplasm of ovary Neoplasm of the large intestine breast Breast neoplasm MCAP; also found in a glioblastoma multiforme sample [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1724341846 RCV001289462	91	D>N	PIK3CA related overgrowth syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1724342021 RCV001034952	92	L>I	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1041456 CA16617846 rs1064793663 RCV000487221 RCV002464207	93	R>Q	Global developmental delay large_intestine Variant assessed as Somatic; impact. endometrium stomach [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1724342655 RCV001300603	101	V>L	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000201238 RCV001221647 COSM1484857 RCV002254285 CA279138 rs863225060	104	P>L	Cowden syndrome PIK3CA related overgrowth syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000427806 RCV000433718 RCV000442359 CA16602914 COSM271872 rs1057519931 RCV000433470 RCV000426242 RCV000443103	106	G>R	Malignant neoplasm of body of uterus kidney Uterine carcinosarcoma Squamous cell lung carcinoma Neoplasm of uterine cervix large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000439354 RCV000432967 rs1057519930 RCV001526649 RCV000422256 COSM729830 RCV000631208 VAR_026168 RCV000438620 RCV000422135 CA16602913 RCV000427943	106	G>V	Malignant neoplasm of body of uterus Neoplasm of uterine cervix urinary_tract endometrium lung Cowden syndrome Uterine carcinosarcoma CLOVES syndrome Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1553820399 RCV000530625	108	R>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001859541 RCV000404833 rs886042002 RCV001353357 RCV002287404 CA10602871 RCV001195259 COSM342716	108	R>H	lung Cowden syndrome large_intestine Variant assessed as Somatic; impact. central_nervous_system endometrium Megalencephaly-capillary malformation-polymicrogyria syndrome breast meninges [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000476644 CA16611285 rs1060500031	109	E>D	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002254349 RCV001289461 RCV001836980 rs1724343994	110	E>missing	PIK3CA related overgrowth syndrome Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [ClinVar]	Yes	ClinVar dbSNP
RCV000436960 COSM1041463 RCV000442739 CA16602916 RCV000431459 RCV003147452 RCV000426940 RCV000437184 RCV000421221 RCV000442136 RCV000442943 RCV000425975 RCV000421413 rs1057519933 RCV000432535	111	K>E	Malignant neoplasm of body of uterus upper_aerodigestive_tract biliary_tract Neoplasm of uterine cervix Glioblastoma Multiple myeloma endometrium urinary_tract Gastric adenocarcinoma Lung adenocarcinoma Neuroblastoma Squamous cell carcinoma of the head and neck Neoplasm of brain Cowden syndrome 5 large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine breast Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM1041464 RCV000438515 CA16602917 RCV002521505 RCV000420617 rs1057519934 COSM582516 RCV000428259 RCV000433094 RCV000420394 RCV000428498 RCV000438262 RCV000439627 RCV000421749 RCV000421970 RCV000430633	111	K>N	Malignant neoplasm of body of uterus upper_aerodigestive_tract Neoplasm of uterine cervix Multiple myeloma Glioblastoma endometrium Gastric adenocarcinoma Lung adenocarcinoma Neuroblastoma lung Cowden syndrome Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine autonomic_ganglia Variant assessed as Somatic; impact. Neoplasm of the large intestine breast Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM1420751 CA16602918 RCV000417780 RCV000433335 RCV000437845 RCV000443094 rs1057519935 RCV000424501 RCV000423063 RCV000426788 RCV000427854 RCV000438066 RCV000443132 RCV000442310	111	K>R	Malignant neoplasm of body of uterus Neoplasm of uterine cervix Multiple myeloma Glioblastoma central_nervous_system Gastric adenocarcinoma Neuroblastoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA213349 RCV000202414 rs863225460 VAR_075634	112	I>N	Megalencephaly-capillary malformation-polymicrogyria syndrome MCAP; increased phosphatidylinositol 3-kinase signaling; decreased interaction with p85 regulatory subunit; no effect on protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs746860750 RCV000470301 CA2710517	114	N>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_081476	115	R>P	CLAPO and MADAC; unknown pathological significance; somatic mutation in CLAPO and MADAC patients [UniProt]	Yes	UniProt
RCV000424957 CA170883 RCV001849317 COSM246588 RCV000419113 VAR_069786 RCV000420426 RCV000144506 RCV002512561 RCV000428959 RCV000437640 RCV000428287 RCV002254279 RCV000417602 RCV000422840 RCV000435685 rs587777790 RCV000439852 RCV001726000 RCV000440522	118	G>D	Angioosteohypertrophic syndrome Malignant neoplasm of body of uterus Neoplasm of uterine cervix Glioblastoma central_nervous_system endometrium Gastric adenocarcinoma Prostate adenocarcinoma Thyroid tumor lung Cowden syndrome kidney Squamous cell carcinoma of the head and neck Neoplasm of brain Cowden syndrome 5 Squamous cell lung carcinoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma prostate breast Breast neoplasm CWS5 [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA2710532 rs371727887 RCV000235809	121	I>V	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002451253 RCV001059879 rs1724359925	123	M>V	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV002358757 CA355273120 rs1553820490 RCV000631211	129	D>G	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2710536 RCV000545394 rs750545881 COSM1420764	134	P>S	Cowden syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA170885 RCV000144507 rs587777791 VAR_069787	135	E>K	Cowden syndrome 5 CWS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000714876 RCV000714877 rs1560137609	137	Q>missing	PIK3CA related overgrowth syndrome Familial cancer of breast [ClinVar]	Yes	ClinVar dbSNP
CA2710540 RCV000764478 RCV000631220 rs755969956	146	V>I	Cowden syndrome Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001250948 rs1724363237	151	V>A	Squamous cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
rs1724363616 RCV001262943	154	R>K	CLAPO syndrome [ClinVar]	Yes	ClinVar dbSNP
rs201705993 CA88557116 RCV000560641	156	L>F	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000704243 CA88557118 rs200001957	157	N>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs200762923 RCV000472843 CA16611291	159	P>L	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001229285 rs1724364548	159	P>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002334399 CA2710548 RCV000708938 rs761264437	167	Y>C	Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA355274708 rs1175225456 RCV001232623	175	P>L	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA355275065 RCV000793301 rs1576932528	187	K>E	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553820520 CA355275069 RCV002343198 RCV000631217	187	K>T	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1560138278 CA355275859 RCV000708939	188	G>E	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2710573 RCV001307944 rs541134560	196	V>I	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001297045 rs1724404532	204	K>R	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001215998 rs1724404532 RCV002356920	204	K>T	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA2710576 rs372610277 RCV000692101	208	T>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs751662352 RCV002365919 RCV001204133 CA2710577	212	N>S	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV003130262 rs1724405220 RCV001315394	215	C>Y	Cowden syndrome Cowden syndrome 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000144508 CA170887 rs587777792 VAR_069788	218	E>K	Cowden syndrome 5 CWS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001313790 rs1724405654	221	I>V	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001293838 rs1724405916	229	T>missing	Colorectal cancer [ClinVar]	Yes	ClinVar dbSNP
RCV000695314 RCV000626895 rs1553820694 CA355277790	248	G>S	Cowden syndrome Corpus callosum, agenesis of [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000463724 rs1060500032 CA16611380	255	C>Y	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000692375 rs765030404 RCV002532213 CA2710603	273	I>V	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1576934610 RCV000810012	284	N>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
rs754602413 RCV002375367 CA2710608 RCV001302181	304	M>V	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs201238717 RCV000631213 CA2710610	311	I>V	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000795027 CA355280591 RCV002442631 rs1297000505	316	P>T	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001759395 CA2710611 rs199605762 RCV000700757 RCV002386241	318	M>I	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
rs1724480940 RCV001298752	319	N>D	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000631218 rs1262394031 CA355281159 RCV003162796	332	S>I	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355281155 rs1262394031 RCV002379821 RCV001218205	332	S>N	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001045429 rs1724482664	333	A>S	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002379485 RCV001037060 rs759611407 CA2710616	333	A>V	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000631210 rs1553821123	335	R>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000424496 CA16602931 RCV000440109 RCV000435208 RCV000417995 RCV000428687 RCV000419612 COSM276750 RCV000435882 rs1057519941 RCV000429893	344	V>A	Non-Hodgkin lymphoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix large_intestine Glioblastoma Variant assessed as Somatic; impact. endometrium Neoplasm of the large intestine Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000438355 RCV000438998 RCV000422522 RCV000421854 CA16602929 RCV000439748 RCV000429042 RCV000428317 RCV000417650 COSM258749 rs1057519941 RCV000785595	344	V>G	Malignant neoplasm of body of uterus cervix NS Neoplasm of uterine cervix Glioblastoma skin endometrium Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Neoplasm of ovary haematopoietic_and_lymphoid_tissue Malignant melanoma of skin Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000438004 RCV000444028 RCV000852337 RCV000485942 RCV000443225 RCV000433868 RCV000427369 RCV000631216 RCV000423160 COSM253280 RCV000767535 rs1057519942 RCV000443321 CA16602930 RCV000433184	344	V>M	Malignant neoplasm of body of uterus Neoplasm of uterine cervix Glioblastoma endometrium central_nervous_system Cowden syndrome Non-Hodgkin lymphoma Squamous cell carcinoma of the head and neck ovary Cowden syndrome 5 Variant assessed as Somatic; impact. Neoplasm of the large intestine breast Hypertelorism Breast neoplasm Malignant melanoma of skin [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16602924 RCV000428413 RCV000417635 RCV000437752 RCV000427082 RCV000434861 COSM3846785 RCV000427665 RCV000442437 RCV000443184 RCV000433621 rs1057519939 RCV000423002	345	N>H	Malignant neoplasm of body of uterus Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Glioblastoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Gastric adenocarcinoma Lung adenocarcinoma breast Prostate adenocarcinoma Adenoid cystic carcinoma Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000442174 rs1057519938 COSM94979 RCV000442934 RCV000431093 RCV000432439 RCV000437641 RCV000427010 CA16602922 RCV000422177 RCV000425913 RCV000420462 RCV000436601	345	N>I	Malignant neoplasm of body of uterus Glioblastoma endometrium Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Variant assessed as Somatic; impact. Neoplasm of the large intestine breast Adenoid cystic carcinoma Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000430226 RCV000418844 CA16602518 RCV000442343 RCV001172158 RCV000425343 RCV000436776 RCV000424744 CA16602517 rs121913284 COSM132748 RCV001327959 RCV000442207 RCV000434766 RCV002502454 RCV000419519 RCV000435436 RCV000436059 RCV000426096	345	N>K	Malignant neoplasm of body of uterus Glioblastoma endometrium urinary_tract central_nervous_system Familial cancer of breast stomach Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma lung salivary_gland Uterine carcinosarcoma Squamous cell carcinoma of the head and neck large_intestine Variant assessed as Somatic; impact. prostate Neoplasm of the large intestine breast Adenoid cystic carcinoma Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP NCI-TCGA
COSM446001 RCV000422347 rs1057519938 RCV000417579 RCV000438272 RCV000428271 CA16602923 RCV000433058 RCV000421685 RCV000439528 RCV000438925 RCV002051723 RCV000428856 RCV000444032	345	N>T	Malignant neoplasm of body of uterus Glioblastoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Megalencephaly-capillary malformation-polymicrogyria syndrome breast Adenoid cystic carcinoma Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
COSM271786 RCV000622911 rs1553821144 CA355281594	350	D>G	pancreas large_intestine Variant assessed as Somatic; impact. endometrium breast Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV001849378 rs1064793349 RCV000482573 CA16617847 COSM582510	350	D>N	lung Variant assessed as Somatic; impact. endometrium Megalencephaly-capillary malformation-polymicrogyria syndrome [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1724484731 RCV001303149	352	D>V	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA170889 VAR_069789 RCV000144509 rs587777793	356	V>I	Cowden syndrome 5 CWS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1724506239 RCV002430108 RCV001303425	361	Y>C	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
COSM1041476 VAR_069252 rs1576935161 RCV000998161 CA355282856 RCV001775154	364	G>R	endometrium Megalencephaly-capillary malformation-polymicrogyria syndrome MCAP [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV001526558 RCV000785369 VAR_069253 RCV000484163 RCV002254298 COSM673906 CA16617848 RCV000798360 rs1064793732	365	E>K	Cowden syndrome Angioosteohypertrophic syndrome Variant assessed as Somatic; impact. endometrium urinary_tract Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome MCAP [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs113613074 CA2710648 RCV000764479 RCV000461259	377	P>R	Cowden syndrome Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1724507777 RCV001526537 RCV001265073	378	C>R	CLOVES syndrome Klippel-TrÃ©naunay syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1041478 RCV000032908 CA130469 RCV000806643 VAR_069254 rs397514565 RCV000201233	378	C>Y	Cowden syndrome PIK3CA related overgrowth syndrome Variant assessed as Somatic; impact. endometrium Megalencephaly-capillary malformation-polymicrogyria syndrome MCAP [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000708941 CA355283178 rs202013300	380	N>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001231683 CA2710649 rs202013300	380	N>S	Cowden syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs587777794 RCV000144510 VAR_069790 RCV000782194 CA170891	382	R>K	Cowden syndrome 5 CWS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_026170 rs2230461 RCV001682835 RCV000121811 RCV001517745 CA161490 RCV001725125	391	I>M	Cowden syndrome Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1484862 RCV000469926 rs748197872 CA2710673	398	R>H	Cowden syndrome Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000998162 rs1576938120 RCV001858875 CA355261507	415	A>V	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA136365 COSM673907 rs397517199 RCV000038669 RCV001256198	418	E>K	CLOVES syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16602903 RCV000418990 RCV000429277 RCV000439523 RCV000428442 RCV000421875 RCV000434942 rs121913272 RCV000418205	420	C>G	Malignant neoplasm of body of uterus Squamous cell lung carcinoma Gastric adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Adenoid cystic carcinoma Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000201232 RCV000444019 RCV000433143 RCV001327960 RCV000154512 rs121913272 VAR_026171 RCV000439612 RCV001526612 RCV002054475 RCV000423306 RCV000444813 COSM267862 CA180900 RCV000709694 RCV000024623 RCV000434659 RCV001705599 RCV000427443	420	C>R	Malignant neoplasm of body of uterus Capillary malformation NS PIK3CA related overgrowth syndrome endometrium Gastric adenocarcinoma Prostate adenocarcinoma lung CLOVES syndrome Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. prostate Neoplasm of the large intestine Neoplasm of ovary CLAPO syndrome breast Adenoid cystic carcinoma Breast neoplasm CLOVE, CRC and CLAPO; unknown pathological significance; somatic mutation in CLAPO patients; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA355261791 RCV000708942 RCV001861937 rs1427967136	441	M>V	Cowden syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs200951754 CA2710699 RCV000691275	442	A>P	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200951754 RCV001341676	442	A>T	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16611194 rs201946684 RCV000464910	448	V>I	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001055814 rs1724673930	448	V>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV002254331 rs1724674149 RCV001072146	449	P>S	Megalencephaly-capillary malformation-polymicrogyria syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000445141 CA16602905 RCV000429114 VAR_026172 RCV000424512 COSM1041484 RCV000419906 RCV000435835 RCV000436533 RCV000422834 rs1057519925 RCV000440424 RCV000418841 RCV000430193	453	E>Q	Malignant neoplasm of body of uterus Glioblastoma urinary_tract endometrium Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma lung Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma Variant assessed as Somatic; impact. Breast neoplasm CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000038670 rs397517200	453	E>D	Non-small cell lung carcinoma [ClinVar]	Yes	ClinVar dbSNP
RCV000032910 RCV000598753 rs587776933	453	E>missing	Megalencephaly-capillary malformation-polymicrogyria syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000423873 RCV000434200 RCV000439172 RCV000442046 CA16602906 COSM3408453 RCV000441605 RCV000432477 RCV000431356 RCV000425686 RCV000421529 rs1057519926 RCV000431793	453	E>D	Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma Glioblastoma central_nervous_system Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001526693 RCV000422944 CA16602904 RCV000443243 RCV001861479 rs1057519925 RCV000435327 RCV000425038 RCV000442682 RCV000434215 RCV000423945 RCV000430361 RCV000433137 RCV001775789 RCV000440626 RCV000785580 RCV002472374 COSM446007 RCV001327961 RCV000991209 RCV002244865	453	E>K	Malignant neoplasm of body of uterus liver PIK3CA related overgrowth syndrome Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma lung Cowden syndrome Squamous cell carcinoma of the head and neck CLOVES syndrome Neoplasm of brain Squamous cell lung carcinoma PIK3CA-related disorder Variant assessed as Somatic; impact. Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome breast Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_069255	453	E>del	MCAP [UniProt]	Yes	UniProt
CA355262060 rs1242912405 RCV000708943	462	T>A	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1057519872 CA16602799 RCV000438832 COSM136386	471	P>L	Trabecular adenocarcinoma large_intestine Variant assessed as Somatic; impact. endometrium skin [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000799707 rs772628045 CA2710722	478	D>Y	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1724680844 RCV001230093	483	V>A	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
rs991307659 RCV000808991 CA88522722	483	V>L	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs557949672 CA2710729 RCV001240400	492	I>M	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1060500027 RCV000472697 CA16611195	494	E>G	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002388001 CA2710730 RCV000631219 RCV000708944 rs199563773	497	N>H	Cowden syndrome Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs753879573 CA2710731 RCV000236695	497	N>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1271146910 CA355262688 RCV001205220	498	W>C	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2710734 RCV002393344 RCV001071461 rs751557352	501	S>T	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs199747934 CA88522760 COSM1420833 RCV001764529 RCV000547757	510	H>N	Cowden syndrome large_intestine Familial cancer of breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD
RCV001700181 RCV000458447 CA2710759 rs201371389	515	N>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001050621 rs1724885747	518	A>G	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA269862 RCV000119355 rs104885999	524	R>K	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001235394 RCV002402738 rs1724886930	533	A>G	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA355264870 RCV000686982 rs1560144842	533	A>T	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001336929 rs1724887307	537	R>Q	Cowden syndrome 5 [ClinVar]	Yes	ClinVar dbSNP
rs121913285 COSM446010 RCV001775117 RCV000427264 CA16602696	539	P>R	Variant assessed as Somatic; impact. Megalencephaly-capillary malformation-polymicrogyria syndrome breast Breast neoplasm [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000417967 RCV000426519 rs1057519927 RCV000441350 RCV000421834 RCV001255685 RCV000438466 RCV000430621 RCV000426815 CA16602907 RCV000437064 RCV000432777 RCV000438048 RCV000421246 RCV000419304 RCV000439966 COSM1041494 RCV000420824 RCV000428636 RCV000441904	542	E>A	Malignant neoplasm of body of uterus Carcinoma of esophagus Small cell lung carcinoma Lip and oral cavity carcinoma Neoplasm of uterine cervix Glioblastoma endometrium Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000423683 RCV000423223 rs1057519927 RCV000435067 RCV000425864 RCV000436379 RCV001821146 RCV000422972 RCV000425192 RCV000623233 RCV000434370 COSM446011 CA16602909 RCV000430389 RCV000443286 RCV000428975 RCV000418283 RCV000442694 RCV000440193 RCV000442566 RCV000434554	542	E>G	Malignant neoplasm of body of uterus Carcinoma of esophagus Small cell lung carcinoma Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Inborn genetic diseases Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine breast Papillary renal cell carcinoma, sporadic Breast neoplasm [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000420078 RCV000431000 CA333572 RCV000442348 RCV001836714 RCV000431872 VAR_026173 RCV000426691 RCV000419440 RCV000154513 COSM125369 RCV000419905 RCV000436932 RCV000421639 RCV000425548 RCV001327962 RCV000438815 RCV001728093 rs121913273 RCV000416776 RCV002513230 RCV000441707 RCV000024622 RCV000433007 RCV000709693 RCV001730477 RCV000445059 RCV000435811 RCV000430763 RCV000151649 RCV001255687	542	E>K	Malignant neoplasm of body of uterus upper_aerodigestive_tract CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Lip and oral cavity carcinoma Neoplasm of uterine cervix Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome kidney Neoplasm of brain CLOVES syndrome pancreas Variant assessed as Somatic; impact. Neoplasm of the large intestine CLAPO syndrome cervix Carcinoma of esophagus Small cell lung carcinoma liver endometrium urinary_tract Cerebrofacial Vascular Metameric Syndrome (CVMS) Non-small cell lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck oesophagus Squamous cell lung carcinoma large_intestine prostate Neoplasm of ovary breast Papillary renal cell carcinoma, sporadic Breast neoplasm CLOVE, KERSEB, CRC, BC, CLAPO, MADAC and CCM4; also found in glioblastoma multiforme and endometrial carcinoma; somatic mutation; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000434732 RCV000440003 RCV000417562 RCV000418640 RCV000418838 RCV000435331 RCV000440174 COSM326157 rs121913273 RCV000423606 RCV000444624 RCV000428863 RCV000429976 RCV000441301 RCV000425149 VAR_026174 CA16602697 RCV000435434 RCV000421205 RCV000785596 RCV000433655 RCV000423371	542	E>Q	Malignant neoplasm of body of uterus Carcinoma of esophagus Small cell lung carcinoma Neoplasm of uterine cervix Glioblastoma endometrium Non-small cell lung carcinoma Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma lung Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell lung carcinoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Neoplasm of ovary Papillary renal cell carcinoma, sporadic Breast neoplasm found in an endometrial carcinoma sample; unknown pathological significance [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000427928 RCV000418134 RCV000419045 rs1057519927 CA16602908 RCV000428899 RCV000443002 RCV000433205 COSM1041493 RCV000438103 RCV000435311 RCV000420027 RCV000439562 RCV000438605 RCV000427440 RCV000432513 RCV000426905 RCV000442409 VAR_026175 RCV000427245	542	E>V	Malignant neoplasm of body of uterus Carcinoma of esophagus Small cell lung carcinoma Neoplasm of uterine cervix Glioblastoma central_nervous_system endometrium Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma large_intestine Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Breast neoplasm BC; unknown pathological significance [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
CA123342 RCV000435323 rs121913274 RCV000433952 RCV000438145 RCV000428526 RCV000427271 RCV000436993 RCV000441159 RCV000441944 RCV000432424 RCV000419838 RCV001327964 RCV000431339 RCV000431799 RCV000429810 VAR_026176 RCV000420659 RCV000437065 RCV000154515 RCV000439842 COSM297145 RCV000423900 RCV000439182 RCV000425497 RCV000442696 RCV000144511 RCV000421111 RCV000420012 RCV000014643 RCV000427464	545	E>A	Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Small cell lung carcinoma liver endometrium urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Cowden syndrome 5 Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm Neoplasm of ovary breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Gallbladder carcinoma Malignant melanoma of skin CWS5 and HCC; also found in a glioblastoma multiforme sample [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV000435957 RCV000424034 RCV000431382 rs121913275 RCV000433104 RCV000421936 RCV000430630 RCV001775099 RCV000420376 CA210104 COSM327064 RCV000424819 RCV000444975 RCV000428214 RCV000419411 RCV000201234 RCV000444369 RCV000436209 RCV000441768 RCV000444285 RCV000430430 RCV000444189 RCV000445334 RCV000437183 RCV000438449 RCV000421752 RCV000426549 CA16602698 RCV002517302 RCV000436795 RCV000425942 RCV000431980	545	E>D	Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma Cowden syndrome Neoplasm of brain Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Carcinoma of esophagus Small cell lung carcinoma PIK3CA related overgrowth syndrome endometrium Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm Megalencephaly-capillary malformation-polymicrogyria syndrome Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Malignant melanoma of skin Gallbladder carcinoma [ClinVar, NCI-TCGA, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000443425 RCV000424828 rs121913274 CA123336 RCV000433665 RCV000429663 RCV000434718 COSM125371 RCV000419402 RCV000418281 RCV000429485 RCV000423395 RCV000418146 RCV000418752 RCV000418099 RCV000429420 RCV000434929 RCV000422071 RCV000427900 RCV000442411 RCV000424637 RCV000433644 RCV000440826 RCV000014637 RCV000438613 VAR_026177 RCV000435973 RCV000427099 RCV000439270 RCV000439693 RCV000014638	545	E>G	Malignant neoplasm of body of uterus upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of colon Carcinoma of esophagus Small cell lung carcinoma liver Melanoma endometrium Gastric adenocarcinoma Prostate adenocarcinoma Epidermal nevus lung Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Variant assessed as Somatic; 0.0 impact. Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma KERSEB; also found in an endometrial carcinoma sample [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
CA123334 RCV000438587 RCV000421958 RCV000422210 RCV000429391 RCV000440053 RCV001327963 RCV000119356 RCV001374447 RCV001786329 RCV000014632 RCV000421583 RCV000423327 RCV000425490 RCV000417835 RCV000440694 RCV000438445 RCV000441949 RCV000418058 RCV001730473 RCV000433152 RCV001262721 RCV000420851 RCV000432636 RCV000014636 RCV000441866 VAR_026178 RCV002508125 rs104886003 RCV000038671 RCV000014631 RCV001092440 RCV000427202 RCV000437876 RCV000014633 RCV000055930 RCV000428639 RCV000433976 RCV000438060 RCV001290591 COSM125370 RCV000442569 RCV001705591 RCV000426520 RCV000431416	545	E>K	Malignant neoplasm of body of uterus upper_aerodigestive_tract Neoplasm of uterine cervix central_nervous_system stomach Lung adenocarcinoma kidney CLOVES syndrome OVARIAN CANCER, EPITHELIAL, SOMATIC pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine Gastric cancer Carcinoma of colon liver PIK3CA related overgrowth syndrome Breast adenocarcinoma lung Uterine carcinosarcoma thyroid Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine Nasopharyngeal neoplasm Seborrheic keratosis Malignant melanoma of skin Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Glioblastoma skin Hepatocellular carcinoma Neoplasm of brain Carcinoma of esophagus Small cell lung carcinoma Sarcoma Eccrine Angiomatous Hamartoma urinary_tract endometrium Non-small cell lung carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) Gastric adenocarcinoma Prostate adenocarcinoma Gallbladder cancer Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma prostate Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome breast Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Gallbladder carcinoma MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000436433 RCV000626447 RCV000418587 RCV000431401 RCV000429497 COSM295672 RCV000442485 RCV000423978 RCV000422954 RCV000445019 RCV000441730 CA16602379 RCV000435117 RCV000443141 RCV000425714 RCV000430168 RCV000435795 RCV000434277 RCV000418767 RCV000435310 rs104886003 RCV000423574 RCV000442112 RCV000440189 RCV000434629 RCV000424431 RCV000421622 RCV000442200 RCV000427263 RCV000431018	545	E>Q	Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Head and neck neoplasm Small cell lung carcinoma urinary_tract Non-small cell lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck thyroid oesophagus Squamous cell lung carcinoma large_intestine Nasopharyngeal neoplasm Renal cell carcinoma, papillary, 1 (rccp1) Papillary renal cell carcinoma, sporadic Breast neoplasm Gallbladder carcinoma Malignant melanoma of skin [ClinVar, NCI-TCGA, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA16602380 RCV000440761 RCV000423876 rs121913274	545	E>V	Variant assessed as Somatic; impact. Neoplasm of the large intestine Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm [NCI-TCGA, ClinVar, Ensembl]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV000422486 COSM1566572 RCV000427915 RCV000431151 RCV000437696 RCV000432516 RCV000441411 RCV000420029 RCV000421383 CA123331 RCV000439013 RCV000441934 RCV000442905 VAR_026179 RCV000432772 rs121913286 RCV000421157 RCV000014630	546	Q>E	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Breast adenocarcinoma Neoplasm of uterine cervix Glioblastoma Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Medulloblastoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Malignant melanoma of skin Breast neoplasm BC; unknown pathological significance [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000429064 RCV000418387 RCV000435614 RCV000441318 RCV000429701 RCV000439710 RCV000440379 RCV000443458 RCV000422478 rs1057519940 RCV000434103 RCV000424039 CA16602925 RCV000423418 RCV000434775	546	Q>H	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix Glioblastoma Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of brain Medulloblastoma Variant assessed as Somatic; impact. Neoplasm of the large intestine Malignant melanoma of skin Breast neoplasm [ClinVar, Ensembl, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000442123 RCV000424106 RCV000431921 RCV000201230 RCV000421680 RCV000425454 RCV000430641 RCV000436582 COSM255876 VAR_026180 RCV000419967 rs121913286 RCV000431780 RCV000430236 RCV000014639 RCV000436763 RCV000205164 RCV000426539 RCV000443162 RCV001762046 RCV000441825 RCV000014640 RCV000442141 RCV001705592 CA123338	546	Q>K	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix Glioblastoma central_nervous_system stomach Neoplasm of brain OVARIAN CANCER, EPITHELIAL, SOMATIC Variant assessed as Somatic; impact. Neoplasm of the large intestine Carcinoma of colon PIK3CA related overgrowth syndrome endometrium Lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma ovary Malignant tumor of prostate Medulloblastoma large_intestine prostate Neoplasm of ovary breast Malignant melanoma of skin Breast neoplasm OC; unknown pathological significance [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000429410 RCV000440512 COSM1757082 RCV000425569 RCV000440705 RCV000430443 RCV000441426 CA16602382 RCV000419085 rs397517201 RCV000434648 RCV000423895 RCV000419300 RCV000431372 RCV000435921 RCV000421119	546	Q>L	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix Glioblastoma urinary_tract Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of brain Medulloblastoma Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin [ClinVar, Ensembl, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000438213 RCV000426258 RCV000428386 RCV000428187 RCV000434915 RCV000420570 RCV000418126 COSM1041496 RCV000437376 RCV000439490 RCV000418297 RCV000427118 CA16602381 RCV000785567 RCV000442635 RCV000429432 rs397517201 VAR_026181	546	Q>P	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Neoplasm of uterine cervix Glioblastoma endometrium Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Medulloblastoma Variant assessed as Somatic; impact. Neoplasm of ovary Neoplasm of the large intestine breast Breast neoplasm Malignant melanoma of skin found in an anaplastic astrocytoma sample; unknown pathological significance [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000433168 RCV000434598 RCV000423116 COSM446012 RCV000427826 RCV000417964 RCV000038672 VAR_026182 RCV000442332 RCV000443308 RCV000440779 RCV000422863 RCV001327965 rs397517201 RCV000434246 RCV000439651 RCV000435640 RCV002254273 RCV000424486 CA136371	546	Q>R	Malignant neoplasm of body of uterus Medulloblastoma (mdb) NS Neoplasm of uterine cervix Glioblastoma endometrium Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of brain Medulloblastoma large_intestine Variant assessed as Somatic; impact. Neoplasm of ovary Neoplasm of the large intestine breast Breast neoplasm Malignant melanoma of skin BC; unknown pathological significance [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1057519699 RCV000424830 RCV000443118 CA16602383	549	D>N	Neoplasm of the large intestine Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs587777795 RCV000144511	553	S>missing	Cowden syndrome 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000823690 CA355265291 rs1576942444	554	H>Y	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104886000 CA269865 RCV000119357	555	R>K	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001341778 RCV001295117 CA355265763 rs1302992156 RCV002411937	583	M>I	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP ClinGen gnomAD
RCV000525233 CA355265758 RCV002404376 rs1553823608	583	M>V	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1060500028 CA16611386 RCV000467076	589	D>G	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs104886021 CA269878 RCV000119367	590	W>*	Familial cancer of breast [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2710812 RCV000477346 rs768646872	610	M>V	Cowden syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000987362 RCV001344623 rs3865687 CA2710814	617	R>Q	Cowden syndrome Cowden syndrome 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA170893 RCV000144512 rs587777796	632	L>*	Cowden syndrome 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000631209 CA355267200 rs1553823718	650	V>A	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001341935 rs1724953620	681	S>T	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000817986 CA355268811 rs1576943715	683	R>T	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1724954145 RCV001338711	686	L>M	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000822499 RCV002415939 CA355268865 rs1397152286	691	Y>C	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001270431 rs1724954436	692	C>missing	Glycogen storage disease, type II [ClinVar]	Yes	ClinVar dbSNP
rs1060500029 CA16611299 RCV000468341	693	R>C	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200404201 RCV000694267 CA2710876	694	A>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16602519 rs121913282 RCV000440923	701	H>P	Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA88528801 rs3729687 RCV001219242	707	E>K	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000431720 RCV000425307 RCV000441979 COSM1420889 RCV000431948 RCV000421014 rs1057519928 RCV000436009 RCV000442825 CA16602911 RCV000442069	726	E>A	Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Squamous cell lung carcinoma large_intestine Neoplasm of the large intestine Lung adenocarcinoma Breast neoplasm [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000419986 rs867262025 RCV000441124 RCV000431306 RCV000437047 RCV000424090 VAR_069256 RCV001851018 COSM446019 RCV000484330 RCV003152707 RCV000429813 RCV001836817 CA16602910 RCV000624735 RCV000423869 RCV000440466	726	E>K	Neoplasm of uterine cervix urinary_tract Lung adenocarcinoma Inborn genetic diseases Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes lung Cowden syndrome Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Megalencephaly-capillary malformation-polymicrogyria syndrome breast Breast neoplasm MCAP [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001266953 rs1724956832	728	Q>R	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs181194055 COSM1566569 CA2710903 RCV000539180 RCV001836836	733	K>R	Cowden syndrome large_intestine Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000708945 rs1560147074 CA355270365 RCV001868318	740	R>K	Cowden syndrome Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2710940 rs749840319 RCV001093608	770	R>Q	Variant assessed as Somatic; 0.0 impact. Polycystic kidney disease [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000809660 rs1576945593	788	I>missing	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1060500030 RCV000477364 CA16611388	791	E>*	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001246721 rs1430412182 CA355272474	798	E>K	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000458886 rs200671228 RCV003168725 CA16611302	808	R>W	Cowden syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000538378 CA2710959 rs371049193	818	R>H	Cowden syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1725157266 RCV001351792	838	C>S	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1560148927 RCV000685685 CA355277269	842	G>S	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs756890248 CA2710980 RCV001313173 RCV001291738	844	C>R	Cowden syndrome Cowden syndrome 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001210890 CA2710983 rs758795044	852	R>*	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1725159134 RCV001236464	853	N>S	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
COSM1041509 rs1576947658 CA355278421 RCV000987366	866	L>W	Cowden syndrome 1 endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000802405 CA355278722 rs1576947670	876	T>A	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA355278915 rs1395235750 RCV002483778 RCV000631215 RCV002533178 RCV001002425 RCV000734952	884	K>R	Cowden syndrome Familial cancer of breast Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs17849078 COSM1186458 CA2711006 RCV000793688	889	I>M	lung Cowden syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1432181034 RCV001289460	909	F>L	PIK3CA related overgrowth syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1553825421 RCV000531420 CA355279698	910	I>V	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002254272 RCV000414672 RCV001836717 CA130467 RCV001852661 rs587776932 RCV001594376 RCV002274888 COSM3846791 RCV000032907 VAR_069257 RCV001327966	914	G>R	Cowden syndrome Angioosteohypertrophic syndrome Cowden syndrome 5 Variant assessed as Somatic; impact. Megalencephaly-capillary malformation-polymicrogyria syndrome breast Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes MCAP [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs773300933 RCV001297223 CA2711009	926	D>N	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355281523 RCV000792209 rs1576948107	958	Q>K	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA355282164 rs1553825480 RCV000552356	972	T>I	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001267411 rs1725278183	985	Y>H	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1725278653 RCV001309304	990	A>G	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
CA355284596 RCV000706806 rs1560150481	992	R>Q	Cowden syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1725280610 RCV001061096	1019	I>T	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
rs121913288 RCV001327967 CA16602699 COSM276755 RCV001851016 VAR_026184 RCV000426577	1021	Y>C	Cowden syndrome large_intestine Variant assessed as Somatic; impact. endometrium breast Breast neoplasm MCAP; also found in an endometrial carcinoma sample [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_026187	1023	R>Q	CRC; unknown pathological significance [UniProt]	Yes	UniProt
RCV000038673 RCV002254274 RCV001526503 COSM1041519 CA136374 rs397517202 VAR_069258	1025	T>A	CLOVES syndrome large_intestine Variant assessed as Somatic; impact. endometrium Non-small cell lung carcinoma breast MCAP [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM1041520 RCV000587402 rs1553826166 CA355285539	1025	T>S	endometrium Endometrial carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1242945375 VAR_026189 CA355285711	1035	A>V	MCAP; also found in an endometrial carcinoma sample [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV000441596 CA183868 RCV000423694 COSM94985 RCV000155959 RCV000201236 RCV002293423 VAR_026190 RCV000699681 RCV000426516 RCV000433967 RCV000442578 RCV000420209 RCV001526545 RCV000442493 RCV000631214 RCV000433300 COSM446027 RCV000420901 rs121913283 RCV000201237 COSM419700 CA210107 RCV000431600 RCV000438783 RCV000430907	1043	M>I	Malignant neoplasm of body of uterus Glioblastoma Non-small cell lung carcinoma Gastric adenocarcinoma Thyroid tumor Squamous cell carcinoma of the head and neck Neoplasm of brain Pancreatic adenocarcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Adenoid cystic carcinoma Breast neoplasm Cowden syndrome NS PIK3CA related overgrowth syndrome large_intestine Variant assessed as Somatic; impact. urinary_tract endometrium Neoplasm of the large intestine breast MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP UniProt
RCV000441125 RCV000442804 CA16602921 RCV000419689 RCV000440867 RCV000432173 RCV000429768 RCV000430807 RCV000421068 rs1057519936 RCV000424307 RCV000434560 RCV000438701	1043	M>L	Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of brain Glioblastoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Gastric adenocarcinoma Thyroid tumor Adenoid cystic carcinoma Breast neoplasm [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000431470 rs1057519937 COSM1420999 RCV000418334 RCV000443392 RCV000425958 RCV000436034 RCV000434729 RCV000436247 RCV000424578 RCV000443538 RCV000424888 RCV000419432 CA16602920	1043	M>T	Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine Glioblastoma Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Gastric adenocarcinoma Neoplasm of the large intestine Thyroid tumor Adenoid cystic carcinoma Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA16602919 RCV000433627 RCV000439355 RCV000419027 RCV000429331 RCV000429124 RCV000423589 RCV000440154 RCV000435660 RCV000417957 rs1057519936 RCV000423343 COSM94983 RCV000441269	1043	M>V	Malignant neoplasm of body of uterus NS Glioblastoma endometrium central_nervous_system Gastric adenocarcinoma Thyroid tumor Squamous cell carcinoma of the head and neck Neoplasm of brain large_intestine Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine breast Adenoid cystic carcinoma Breast neoplasm [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000821190 CA355285826 COSM1041522 rs1576949960 COSM479741	1044	N>K	Cowden syndrome kidney liver large_intestine endometrium breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000479562 RCV001856831 COSM1421001 CA16617853 rs1064793838	1044	N>S	Cowden syndrome large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs1725283257 RCV001352011	1047	H>I	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000032905 RCV000440269 RCV000709692 RCV001253236 RCV000427664 RCV000418315 RCV000443341 RCV000428229 RCV000425496 RCV000435425 CA123328 RCV000424813 VAR_026191 RCV001807728 RCV000427278 RCV000438270 RCV000435543 RCV000434398 RCV001526597 COSM94987 RCV000014629 RCV000201235 RCV000429614 RCV000434874 RCV000417557 RCV001728092 RCV000442340 RCV000418190 RCV000443510 rs121913279 RCV000423706 RCV000626894 RCV000428866 RCV000423048 RCV002254265 RCV000439524 RCV000433765 RCV000422323 RCV000987367	1047	H>L	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma upper_aerodigestive_tract Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 NS CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Neoplasm of uterine cervix Colorectal cancer Glioblastoma central_nervous_system Hepatocellular carcinoma Lung adenocarcinoma kidney CLOVES syndrome Neoplasm of brain pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine CLAPO syndrome Carcinoma of esophagus Stroke biliary_tract liver PIK3CA related overgrowth syndrome Breast adenocarcinoma urinary_tract endometrium Non-small cell lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma lung Cowden syndrome 1 Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Variant assessed as Somatic; 0.0 impact. Hemihypertrophy Medulloblastoma Squamous cell lung carcinoma large_intestine Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome breast Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm BC, CLAPO, MADAC and CCM4; somatic mutation [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000436517 rs1057519932 RCV000441288 RCV000418770 RCV000423888 RCV000431246 RCV000433980 COSM1041524 COSM1421007 RCV000436651 RCV000441412 RCV000443463 RCV000419872 RCV000440716 RCV000434142 RCV000431731 RCV000423601 CA16602915 RCV000429930 RCV000418650 RCV000427565 RCV000442558 RCV000425376 RCV000425154 RCV000435397 RCV000430152	1047	H>Q	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus endometrium Gastric adenocarcinoma Prostate adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Medulloblastoma large_intestine Renal cell carcinoma, papillary, 1 (rccp1) Malignant melanoma of skin Breast neoplasm [ClinVar, Ensembl, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV000014624 RCV000201231 RCV000024621 RCV000420562 RCV000428372 RCV001327968 RCV000421855 RCV000426614 RCV000431232 RCV000432506 RCV001807727 RCV000014628 RCV001705590 RCV001255686 RCV001762045 RCV000014626 RCV000437287 RCV000154516 RCV000419938 RCV000014627 RCV000436234 RCV000422442 RCV000426498 RCV000014623 RCV000437153 RCV000437782 RCV001705589 RCV000425956 RCV002508124 RCV000432543 RCV000433127 RCV000430589 RCV001092442 VAR_026192 RCV000438435 rs121913279 RCV000442731 RCV000443546 RCV000442736 COSM94986 RCV001526648 RCV001728091 CA123326 RCV003128082 RCV000442164 RCV000014622 RCV001730472 RCV001836707 RCV001729349 RCV000487449 RCV000709691	1047	H>R	Malignant neoplasm of body of uterus upper_aerodigestive_tract CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Neoplasm of uterine cervix central_nervous_system Familial cancer of breast stomach Lung adenocarcinoma Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes kidney Breast carcinoma CLOVES syndrome OVARIAN CANCER, EPITHELIAL, SOMATIC pancreas Pancreatic adenocarcinoma Neoplasm of the large intestine CLAPO syndrome Gastric cancer Carcinoma of colon liver PIK3CA related overgrowth syndrome Breast adenocarcinoma lung Neoplasm Uterine carcinosarcoma Variant assessed as Somatic; 0.0 impact. oesophagus Medulloblastoma large_intestine Seborrheic keratosis Malignant melanoma of skin MACRODACTYLY, SOMATIC Medulloblastoma (mdb) Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Lip and oral cavity carcinoma Glioblastoma skin Hepatocellular carcinoma Neoplasm of brain Carcinoma of esophagus endometrium urinary_tract Non-small cell lung carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck ovary Squamous cell lung carcinoma Congenital macrodactylia prostate Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm CLOVE, KERSEB, CRC, BC, OC, MADAC and CCM4; also found in an endometrial carcinoma sample; somatic mutation; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; may alter the interaction of the PI3K/PI4K kinase domain with the cell membrane [ClinVar, Cosmic, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV000440398 RCV000420550 CA130471 RCV000763508 VAR_026193 RCV000435399 RCV000432906 RCV000441716 RCV000032909 RCV000435124 RCV002226661 RCV000433635 RCV000425119 RCV000441028 COSM1041523 rs121913281 RCV000428005 RCV000418438 RCV000436090 RCV000432323 RCV000417782 RCV000425540 RCV000442782 RCV000425809 RCV000424877 RCV000038675 RCV000430750 RCV000441963 RCV000422744 RCV000444680 RCV001092441 RCV000423369 RCV000698423 RCV001705625	1047	H>Y	Malignant neoplasm of body of uterus Medulloblastoma (mdb) Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of uterine cervix Glioblastoma Familial cancer of breast Hepatocellular carcinoma Lung adenocarcinoma Cowden syndrome CLOVES syndrome Neoplasm of brain Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus endometrium Non-small cell lung carcinoma Gastric adenocarcinoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Medulloblastoma large_intestine Malignant tumor of floor of mouth Megalencephaly-capillary malformation-polymicrogyria syndrome breast Renal cell carcinoma, papillary, 1 (rccp1) Breast neoplasm Malignant melanoma of skin MCAP; also found in an endometrial carcinoma sample [ClinVar, Ensembl, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
COSM446029 RCV000427562 CA16602520 rs121913277	1049	G>R	kidney large_intestine Malignant tumor of floor of mouth Variant assessed as Somatic; impact. endometrium breast [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs121913277 RCV000437691 CA16602700 COSM1421012 RCV001555377 RCV002051848 VAR_069259	1049	G>S	large_intestine Variant assessed as Somatic; impact. Neoplasm of the large intestine Megalencephaly-capillary malformation-polymicrogyria syndrome MCAP [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
VAR_026196 RCV000699819 COSM3846795 CA355286039 rs1560150596	1065	H>L	Cowden syndrome breast found in an endometrial carcinoma sample; unknown pathological significance [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1253171657 RCV000803359 CA355286053 RCV001772073	1066	A>V	Cowden syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs587776802 RCV000014641 RCV002508126	1068	N>missing	Hepatocellular carcinoma Gastric cancer [ClinVar]	Yes	ClinVar dbSNP
RCV001217513 rs1725284914	1068	N>I	Cowden syndrome [ClinVar]	Yes	ClinVar dbSNP
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355270070 rs1576931853	2	P>S		No	ClinGen Ensembl
COSM2156764 CA88556318 rs1051397	4	R>*	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2710488 rs749956691	4	R>L		No	ClinGen ExAC TOPMed gnomAD
CA355270138 rs749956691	4	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	9	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	9	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	10	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	10	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	10	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710491 rs751930632	15	L>F		No	ClinGen ExAC gnomAD
CA355270616 rs1470180843 COSM1566583	17	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1178810605 CA355270638	18	P>S		No	ClinGen gnomAD
CA2710493 rs781473521	21	L>V		No	ClinGen ExAC TOPMed
rs748316866 CA2710494	22	V>I		No	ClinGen ExAC gnomAD
rs372968114 CA2710495	30	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1289478729 CA355270956	30	M>V		No	ClinGen gnomAD
CA2710496 rs777956032	36	C>R		No	ClinGen ExAC gnomAD
CA355271221 rs1225779973	41	T>A		No	ClinGen gnomAD
CA2710499 VAR_042942 rs1051399	43	I>V		No	ClinGen UniProt ExAC TOPMed dbSNP
CA88556391 rs199892244	45	I>V		No	ClinGen Ensembl
CA355271329 rs1260738276	50	F>C		No	ClinGen gnomAD
RCV000487716 rs1064797300 CA16621810	50	F>L		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	63	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710505 rs772678298	63	Q>H		No	ClinGen ExAC gnomAD
CA2710506 rs762499952	64	D>G		No	ClinGen ExAC gnomAD
rs1431864326 CA355271876	65	E>A		No	ClinGen TOPMed
rs766896653 CA2710507 COSM729831	65	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355271951 rs1456514123	67	S>A		No	ClinGen gnomAD
CA2710511 rs201269904	71	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	81	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	85	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560137217 CA355272348	86	T>A		No	ClinGen Ensembl
rs1432290091 CA355272405	89	L>F		No	ClinGen gnomAD
rs778184105 CA2710513	91	D>E		No	ClinGen ExAC gnomAD
rs140888424 CA88556555	95	F>L		No	ClinGen Ensembl
TCGA novel	101	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553820381 RCV000592860	104	P>missing		No	ClinVar dbSNP
TCGA novel	104	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	108	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	109	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	109	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	111	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	112	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768659103 CA2710518	115	R>*		No	ClinGen ExAC
COSM1041467 CA88556623 rs200018596	115	R>L	upper_aerodigestive_tract ovary Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
rs150075806 CA88556632	117	I>S		No	ClinGen Ensembl
CA2710533 rs754044428	122	G>S		No	ClinGen ExAC gnomAD
rs778808375 CA2710535	130	M>V		No	ClinGen ExAC gnomAD
CA355273240 rs1326663311	132	K>N		No	ClinGen TOPMed
rs754839215 CA2710537	137	Q>R		No	ClinGen ExAC gnomAD
rs1382877640 CA355273521	140	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA88557095 rs200619412	141	R>K		No	ClinGen Ensembl
CA2710538 rs781155625	143	I>M		No	ClinGen ExAC gnomAD
rs1223709697 CA355273584	143	I>T		No	ClinGen TOPMed
CA355273836 rs1433512757	151	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	156	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201705993 CA2710542	156	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2710543 rs770642656	159	P>S		No	ClinGen ExAC gnomAD
CA2710545 rs745427569	162	R>G		No	ClinGen ExAC gnomAD
rs1553820511 RCV000518870 CA355274284	162	R>K		No	ClinGen ClinVar Ensembl dbSNP
rs776203240 CA2710547	165	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355274451 rs1475987837	165	Y>S		No	ClinGen gnomAD
CA2710549 rs764493325	173	S>A		No	ClinGen ExAC gnomAD
CA2710550 rs777154955	175	P>A		No	ClinGen ExAC gnomAD
CA355274880 rs758563093	180	H>D		No	ClinGen ExAC gnomAD
rs758563093 CA2710554	180	H>Y		No	ClinGen ExAC gnomAD
rs1431315886 CA355274932	182	Y>C		No	ClinGen gnomAD
CA88557187 rs1055592960	182	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs767439253 CA2710555	183	N>S		No	ClinGen ExAC gnomAD
rs1410357074 CA355275077	187	K>N		No	ClinGen gnomAD
rs1375011981 CA355275875	189	Q>K		No	ClinGen gnomAD
CA355276003 rs1182102297	194	I>M		No	ClinGen TOPMed
rs773550451 CA2710574	197	I>M		No	ClinGen ExAC gnomAD
CA2710575 rs763090975	200	P>A		No	ClinGen ExAC gnomAD
CA88558221 rs200131834	205	Q>R		No	ClinGen gnomAD
CA355276585 rs1236123346	216	V>A		No	ClinGen TOPMed
CA88558256 rs910287504	216	V>L		No	ClinGen Ensembl
CA355276592 rs1223886939	217	P>S		No	ClinGen gnomAD
CA88558264 rs943131817	223	E>G		No	ClinGen Ensembl
TCGA novel	229	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355277103 rs1482313267	230	R>G		No	ClinGen gnomAD
rs934216391 CA88558327	235	S>C		No	ClinGen Ensembl
TCGA novel	237	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362905343 CA355277461	238	Q>H		No	ClinGen gnomAD
CA355278164 rs1423860200	256	G>*		No	ClinGen gnomAD
rs1164194300 CA355278169	256	G>A		No	ClinGen gnomAD
rs1407807826 CA355278273	258	D>G		No	ClinGen gnomAD
rs1323640980 CA355278372	261	F>Y		No	ClinGen TOPMed
rs778573303 CA2710582	263	E>G		No	ClinGen ExAC TOPMed gnomAD
rs750030185 CA2710583	264	K>N		No	ClinGen ExAC gnomAD
CA2710584 rs758142827	266	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	266	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200765393 CA88558417	269	Q>L		No	ClinGen TOPMed
TCGA novel	269	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88558394 rs200765393	269	Q>R		No	ClinGen TOPMed
rs1227389466 CA355279602	273	I>T		No	ClinGen gnomAD
CA88560565 rs150606403	274	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2710604 rs750214356	275	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1341976696 CA355279709	277	I>V		No	ClinGen gnomAD
rs1197175410 CA355279730	278	M>T		No	ClinGen gnomAD
CA355279725 rs1460491333	278	M>V		No	ClinGen gnomAD
rs1260908401 CA355279751	279	L>F		No	ClinGen gnomAD
rs1320955347 CA355279839	284	N>D		No	ClinGen gnomAD
TCGA novel	292	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355280109 rs1426596111	295	S>F		No	ClinGen gnomAD
rs74639903 CA88560598	296	Q>H		No	ClinGen Ensembl
CA2710607 rs779900475	299	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1576934637 CA355280177	299	M>T		No	ClinGen Ensembl
CA2710606 rs779900475	299	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	300	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200433654 CA88560615	301	C>G		No	ClinGen gnomAD
CA355280256 rs1442481831	302	F>S		No	ClinGen gnomAD
rs1405694312 CA355280373	305	P>S		No	ClinGen gnomAD
rs780572147 CA2710609	310	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1386556878 CA355280546	313	T>S		No	ClinGen gnomAD
rs1328531232 CA355280627	317	Y>H		No	ClinGen gnomAD
rs1231592354 CA355280689	318	M>T		No	ClinGen gnomAD
rs369596123 CA2710612	321	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs372585003 CA2710613	322	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA88560677 rs200751708	323	S>A		No	ClinGen Ensembl
CA355280888 rs1203909224	325	K>Q		No	ClinGen gnomAD
rs1235701540 CA355280978	328	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1204477021 CA355281001	329	V>D		No	ClinGen gnomAD
rs774616938 CA2710615	329	V>I		No	ClinGen ExAC gnomAD
VAR_042943 CA88560714 rs1051407	332	S>R		No	ClinGen UniProt Ensembl dbSNP
CA355281278 rs1428379257	339	L>I	Variant assessed as Somatic; 4.771e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355281384 rs1480850406	342	T>A		No	ClinGen gnomAD
VAR_026169	343	Y>C	found in a cancer sample; unknown pathological significance [UniProt]	No	UniProt
rs1131680 CA88560757	346	V>L		No	ClinGen Ensembl
CA2710619 rs761766361	347	N>I		No	ClinGen ExAC gnomAD
TCGA novel	351	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355282615 rs1249433928	354	I>F		No	ClinGen gnomAD
CA88561387 rs865861691	358	T>K		No	ClinGen Ensembl
CA88561400 rs773901629	361	Y>TT*		No	ClinGen Ensembl
CA355282811 rs1397054832	362	H>R		No	ClinGen TOPMed
COSM1579088 CA88561410 rs759188876	363	G>A	upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2710643 rs759188876	363	G>V		No	ClinGen ExAC gnomAD
rs767117813 CA2710644	365	E>D		No	ClinGen ExAC gnomAD
CA2710646 rs755641133	370	N>H		No	ClinGen ExAC gnomAD
TCGA novel	375	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355283135 rs1405237410	377	P>S		No	ClinGen TOPMed
CA2710650 rs779205139	380	N>K		No	ClinGen ExAC gnomAD
rs989785573 CA88522250	391	I>T		No	ClinGen TOPMed
CA2710670 rs751673551	392	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs781381096 CA2710672	397	P>A		No	ClinGen ExAC gnomAD
rs1401795892 CA355261397	398	R>C		No	ClinGen TOPMed
rs1368278109 CA355261411	400	A>V		No	ClinGen gnomAD
CA355261482 rs1263777602	411	G>A		No	ClinGen gnomAD
rs1038836238 CA88522307	417	E>V		No	ClinGen Ensembl
TCGA novel	418	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000414644 rs1057518041	420	C>R		No	ClinVar dbSNP
TCGA novel	420	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710693 rs756193341	427	I>K		No	ClinGen ExAC gnomAD
CA88522609 rs943535452	427	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	432	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710694 rs777901394	433	T>A		No	ClinGen ExAC gnomAD
rs745847400 CA2710695	435	T>I		No	ClinGen ExAC gnomAD
CA355261721 rs1365836230	436	L>V		No	ClinGen TOPMed
CA2710696 rs772020209	437	V>I		No	ClinGen ExAC gnomAD
CA2710697 rs772020209	437	V>L		No	ClinGen ExAC gnomAD
rs746773689 CA2710698	441	M>T		No	ClinGen ExAC gnomAD
CA355261850 rs1404174283	444	N>S		No	ClinGen gnomAD
rs776202229 CA2710700	446	W>R		No	ClinGen ExAC gnomAD
TCGA novel	446	W>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88522615 rs573490174	447	P>S		No	ClinGen Ensembl
TCGA novel	447	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355261914 rs1278986760 COSM1041482	449	P>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	449	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	450	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	452	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs587776933	453	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	455	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	455	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	461	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	464	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	467	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372316575 CA88522639	467	N>S		No	ClinGen ESP TOPMed
TCGA novel	469	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710721 rs769406397	470	T>S		No	ClinGen ExAC gnomAD
TCGA novel	474	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs959926480 CA355262292	475	L>F		No	ClinGen TOPMed gnomAD
rs1443881743 CA355262355	479	W>R		No	ClinGen gnomAD
CA2710723 rs186076493	480	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA355262424 rs1369948803	481	S>N		No	ClinGen gnomAD
CA355262463 rs1430749145	482	S>N		No	ClinGen TOPMed
CA355262470 rs991307659	483	V>M		No	ClinGen TOPMed
rs1004909638 CA88522726	484	V>L		No	ClinGen Ensembl
CA355262556 rs1187304552	489	M>V		No	ClinGen TOPMed
CA2710727 rs768049386	491	V>M		No	ClinGen ExAC gnomAD
CA355262628 rs1254179775	494	E>D		No	ClinGen TOPMed
CA355262636 rs1475475326	495	H>P		No	ClinGen TOPMed gnomAD
rs376198913 CA2710733	498	W>R		No	ClinGen ESP ExAC gnomAD
rs1220116506 CA355262734	502	R>Q		No	ClinGen TOPMed gnomAD
rs1260684206 CA355262749	503	E>G		No	ClinGen gnomAD
CA355262777 rs1436163100	505	G>E		No	ClinGen gnomAD
rs369950390 CA2710737	508	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2710741 rs201631515	511	A>S		No	ClinGen ExAC gnomAD
COSM1220595 rs201631515 CA2710740	511	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs200031978 CA2710742	512	G>V		No	ClinGen ExAC gnomAD
CA355264693 rs1423200481	523	L>F		No	ClinGen gnomAD
rs1302938521 CA355264772	527	D>G		No	ClinGen gnomAD
CA88527128 rs59971989	528	K>E		No	ClinGen Ensembl
rs1387024511 CA355264856	532	K>Q		No	ClinGen gnomAD
CA355264862 rs1266238180	532	K>R		No	ClinGen TOPMed
rs1466575763 CA355264901	534	I>V		No	ClinGen TOPMed
CA88527179 rs988134846	551	L>V		No	ClinGen TOPMed gnomAD
CA355265386 rs1468005092	556	H>Y		No	ClinGen TOPMed
CA355265419 rs1560145156	560	T>I		No	ClinGen Ensembl
rs758050864 CA2710782	563	E>D		No	ClinGen ExAC gnomAD
rs996189594 CA88527721	566	P>S		No	ClinGen TOPMed
CA88527727 rs1022286541	572	V>I		No	ClinGen TOPMed
CA2710783 rs779700339	577	R>K		No	ClinGen ExAC gnomAD
CA355265821 rs1467831050	587	V>I		No	ClinGen gnomAD
CA355265835 rs1417939490	588	K>Q		No	ClinGen TOPMed
CA355265922 rs1248066956	591	P>L		No	ClinGen TOPMed
rs200694869 CA2710805	593	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778096620 CA2710807	598	A>T		No	ClinGen ExAC gnomAD
TCGA novel	601	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2710811 rs745884068	608	D>E		No	ClinGen ExAC gnomAD
RCV000121809 rs3908108 CA161484	613	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs1560145356 CA355266575	616	V>I		No	ClinGen Ensembl
COSM1041501 rs776503460 CA2710813	617	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773111475 CA2710816	621	K>E		No	ClinGen ExAC gnomAD
CA355266749 rs1334051055	621	K>I		No	ClinGen TOPMed
CA355266799 rs1264814442	622	Y>C		No	ClinGen gnomAD
rs762727422 CA2710817	624	T>A		No	ClinGen ExAC gnomAD
CA355266894 rs1303751906	625	D>N		No	ClinGen TOPMed
CA161487 rs3908109 RCV000121810	626	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA355266951 rs1425290574	627	K>R		No	ClinGen gnomAD
CA355266968 rs1416078027	628	L>F		No	ClinGen gnomAD
TCGA novel	628	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765898315 CA2710818	631	Y>C		No	ClinGen ExAC gnomAD
CA2710819 rs751095740	633	I>L		No	ClinGen ExAC TOPMed gnomAD
CA355267086 rs1258808931	638	V>I		No	ClinGen TOPMed
rs17849072 CA88528234	644	Y>H		No	ClinGen Ensembl
CA355267340 rs1175399043	661	Q>E		No	ClinGen gnomAD
CA2710834 rs748139041	663	I>T		No	ClinGen ExAC gnomAD
TCGA novel	670	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1060503813	671	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	671	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355268748 rs1261422976	674	E>D		No	ClinGen TOPMed
rs887627133 CA88528772	675	M>I		No	ClinGen TOPMed
CA355268754 rs1476951881	675	M>T		No	ClinGen gnomAD
CA2710872 rs759150318	680	V>I		No	ClinGen ExAC gnomAD
rs199700225 CA88528784	681	S>R		No	ClinGen TOPMed
rs1467298802 CA355268803	682	Q>R		No	ClinGen gnomAD
CA355268866 rs1397152286	691	Y>F		No	ClinGen gnomAD
CA355268879 rs1336500564 COSM327063	693	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA2710877 rs754404652	694	A>V		No	ClinGen ExAC gnomAD
CA88528798 rs866824713	697	M>I		No	ClinGen gnomAD
rs41273621 CA88528833	729	K>E		No	ClinGen Ensembl
COSM1420893 CA2710902 rs773463702	732	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766847142 CA2710904	736	V>A		No	ClinGen ExAC gnomAD
CA355270362 rs1408408816	739	M>I		No	ClinGen TOPMed gnomAD
CA355270344 rs1395991996	739	M>V		No	ClinGen gnomAD
rs755226907 CA2710906	740	R>S		No	ClinGen ExAC TOPMed gnomAD
rs893296498 CA88530928	741	R>*		No	ClinGen Ensembl
CA2710907 rs767744576	741	R>Q		No	ClinGen ExAC
CA88530947 rs902302454	742	P>T		No	ClinGen TOPMed
CA355270538 rs1304992271	745	M>T		No	ClinGen gnomAD
rs752782033 CA2710908	747	A>T		No	ClinGen ExAC gnomAD
rs1418345345 CA355270791	752	L>P		No	ClinGen TOPMed
CA88530957 rs1003780665	757	P>S		No	ClinGen TOPMed
CA355270947 rs1355632857	759	H>Y		No	ClinGen gnomAD
CA88530975 rs1022964484	763	N>D		No	ClinGen Ensembl
CA355271089 rs1242872065	764	L>V		No	ClinGen gnomAD
CA355271323 rs1485993106	766	L>V		No	ClinGen TOPMed gnomAD
CA2710939 rs777123905	769	C>*		No	ClinGen ExAC gnomAD
CA355271438 rs1576945574	769	C>G		No	ClinGen Ensembl
CA16617849 RCV000482331 rs771524333	777	R>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	783	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461675237 CA355272094	786	P>S		No	ClinGen TOPMed
CA355272182 rs1356168549	788	I>V		No	ClinGen gnomAD
CA355272565 rs1261983174	801	F>C		No	ClinGen TOPMed
rs780837825 CA2710956	808	R>Q		No	ClinGen ExAC gnomAD
rs1360085333 CA355274146	814	L>V		No	ClinGen gnomAD
CA355274295 rs371049193	818	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405680411 CA355274437	822	N>D		No	ClinGen TOPMed
CA355274703 rs1463675604	828	G>S		No	ClinGen TOPMed
CA88532213 rs199926184	829	L>I		No	ClinGen Ensembl
CA355274788 rs1365628884	832	R>Q		No	ClinGen gnomAD
TCGA novel	841	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355277450 rs1221372660	845	V>G		No	ClinGen TOPMed
rs1195745994 CA355277504	847	L>V		No	ClinGen gnomAD
rs778550145 CA2710981	849	E>G		No	ClinGen ExAC gnomAD
CA355277601 rs1371836681	849	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA88534194 rs199943173	852	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA355278046 rs1160097862	857	I>V		No	ClinGen gnomAD
rs1411811692 CA355278212	859	Q>H		No	ClinGen TOPMed gnomAD
rs74427133 CA88534235	873	N>T		No	ClinGen Ensembl
CA88534249 rs892699659	875	H>Y		No	ClinGen TOPMed
rs1454137650 CA355278728	876	T>I		No	ClinGen TOPMed
TCGA novel	880	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553825266 RCV000479649	883	D>missing		No	ClinVar dbSNP
rs1434775922 CA355278903	884	K>E		No	ClinGen TOPMed
CA355278951 rs1347509342	885	N>K		No	ClinGen gnomAD
rs1454761759 CA355278964	886	K>R		No	ClinGen gnomAD
RCV000486294 rs1064796841 CA16617851	889	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA2711007 rs748411676	894	I>V		No	ClinGen ExAC gnomAD
CA355279327 rs1356990190	895	D>E		No	ClinGen gnomAD
CA88534685 rs985791383	898	T>A		No	ClinGen TOPMed
CA355279386 rs1216178660	899	R>C		No	ClinGen TOPMed gnomAD
CA355279456 rs1448523337	902	A>T		No	ClinGen TOPMed
TCGA novel	903	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA16617852 rs1064795304 RCV000482997	920	N>D		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	929	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	930	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	945	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	953	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	957	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2711023 rs752056112	976	E>K		No	ClinGen ExAC gnomAD
TCGA novel	981	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA88537372 rs369697984	983	M>I		No	ClinGen ESP
CA355284382 rs1272870037	983	M>K		No	ClinGen TOPMed
rs767952819 CA2711047	987	A>S		No	ClinGen ExAC gnomAD
rs753064641 CA2711048	987	A>V		No	ClinGen ExAC gnomAD
CA2711050 rs373295359	994	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160295534 CA355284630	994	H>Y		No	ClinGen TOPMed gnomAD
CA355284682 rs1245520052	996	N>S		No	ClinGen TOPMed
rs1448660730 CA355284989	1007	G>C		No	ClinGen TOPMed
VAR_026183	1007	G>R	found in an endometrial carcinoma sample; unknown pathological significance [UniProt]	No	UniProt
COSM1420943 CA2711053 rs778888233	1009	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1328031338 CA355285366 COSM1420965	1019	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
VAR_026185	1021	Y>H	found in an endometrial carcinoma sample; unknown pathological significance [UniProt]	No	UniProt
VAR_026186	1021	Y>N	found in a glioblastoma multiforme sample; unknown pathological significance [UniProt]	No	UniProt
VAR_026188	1025	T>N	found in a glioblastoma multiforme sample; unknown pathological significance [UniProt]	No	UniProt
CA2711057 rs748089627	1045	D>E		No	ClinGen ExAC gnomAD
RCV000518937 rs1553826184 CA355285849 RCV003156101 COSM479742	1048	H>R	kidney large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
VAR_026194	1050	G>D	found in an endometrial carcinoma sample; unknown pathological significance [UniProt]	No	UniProt
VAR_026195	1052	T>K	found in an endometrial carcinoma sample; unknown pathological significance [UniProt]	No	UniProt
rs267599698 CA88537482	1057	W>*		No	ClinGen Ensembl
COSM479743 CA355285928 rs1576950003 RCV000998163	1058	I>L	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_026197	1065	H>Y	found in brain tumors; unknown pathological significance [UniProt]	No	UniProt
rs587776802	1068	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1069	N>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

12 associated diseases with P42336

[MIM: 114500]: Colorectal cancer (CRC)

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:15930273, ECO:0000269|PubMed:15994075}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 114480]: Breast cancer (BC)

A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:16353168}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 167000]: Ovarian cancer (OC)

The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:15520168}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

[MIM: 114550]: Hepatocellular carcinoma (HCC)

A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269|PubMed:15608678}. Note=The gene represented in this entry may be involved in disease pathogenesis.

[MIM: 182000]: Keratosis, seborrheic (KERSEB)

A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269|PubMed:17673550}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 602501]: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)

A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. {ECO:0000269|PubMed:22729224, ECO:0000269|PubMed:26593112}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 612918]: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE)

A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings

[MIM: 615108]: Cowden syndrome 5 (CWS5)

A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269|PubMed:23246288}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613089]: CLAPO syndrome (CLAPO)

A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth. {ECO:0000269|PubMed:29446767}. Note=The disease may be caused by variants affecting the gene represented in this entry. The tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. {ECO:0000269|PubMed:29446767}.

[MIM: 155500]: Macrodactyly (MADAC)

A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot. {ECO:0000269|PubMed:23100325}. Note=The disease may be caused by variants affecting the gene represented in this entry. The tissue distribution of the clinical manifestations in MADAC seems to follow a pattern of somatic mosaicism. {ECO:0000269|PubMed:23100325}.

[MIM: 619538]: Cerebral cavernous malformations 4 (CCM4)

A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. {ECO:0000269|PubMed:34496175}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:15930273, ECO:0000269|PubMed:15994075}. Note=The gene represented in this entry may be involved in disease pathogenesis.
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:16353168}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:15520168}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269|PubMed:15608678}. Note=The gene represented in this entry may be involved in disease pathogenesis.
A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269|PubMed:17673550}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. {ECO:0000269|PubMed:22729224, ECO:0000269|PubMed:26593112}. Note=The disease is caused by variants affecting the gene represented in this entry.
A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings
A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269|PubMed:23246288}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth. {ECO:0000269|PubMed:29446767}. Note=The disease may be caused by variants affecting the gene represented in this entry. The tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. {ECO:0000269|PubMed:29446767}.
A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot. {ECO:0000269|PubMed:23100325}. Note=The disease may be caused by variants affecting the gene represented in this entry. The tissue distribution of the clinical manifestations in MADAC seems to follow a pattern of somatic mosaicism. {ECO:0000269|PubMed:23100325}.
A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. {ECO:0000269|PubMed:34496175}. Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for P42336

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain	173 - 292	IPR000341
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	765 - 1065	IPR000403
domain	Phosphoinositide 3-kinase, accessory (PIK) domain	517 - 704	IPR001263
domain	C2 phosphatidylinositol 3-kinase-type domain	322 - 487	IPR002420
domain	Phosphatidylinositol 3-kinase, adaptor-binding domain	16 - 108	IPR003113
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	801 - 815	IPR018936-1
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	900 - 920	IPR018936-2
domain	PI3Kalpha, catalytic domain	695 - 1064	IPR037704

Functions

		Description
EC Number	2.7.1.137	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intercalated disc	A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
phosphatidylinositol 3-kinase complex	A protein complex capable of phosphatidylinositol 3-kinase activity and containing subunits of any phosphatidylinositol 3-kinase (PI3K) enzyme. These complexes are divided in three classes (called I, II and III) that differ for their presence across taxonomic groups and for the type of their constituents. Catalytic subunits of phosphatidylinositol 3-kinase enzymes are present in all 3 classes; regulatory subunits of phosphatidylinositol 3-kinase enzymes are present in classes I and III; adaptor proteins have been observed in class II complexes and may be present in other classes too.
phosphatidylinositol 3-kinase complex, class IA	A class I phosphatidylinositol 3-kinase complex that possesses 1-phosphatidylinositol-4-phosphate 3-kinase activity; comprises a catalytic class IA phosphoinositide 3-kinase (PI3K) subunit and an associated SH2 domain-containing regulatory subunit that is a member of a family of related proteins often called p85 proteins. Through the interaction with the SH2-containing adaptor subunits, Class IA PI3K catalytic subunits are linked to tyrosine kinase signaling pathways.
phosphatidylinositol 3-kinase complex, class IB	A class I phosphatidylinositol 3-kinase complex that possesses 1-phosphatidylinositol-4-phosphate 3-kinase activity; comprises a catalytic class IB phosphoinositide 3-kinase (PI3K) subunit and an associated regulatory subunit that is larger than, and unrelated to, the p85 proteins present in class IA complexes. Class IB PI3Ks are stimulated by G-proteins and do not interact with the SH2-domain containing adaptors that bind to Class IA PI3Ks.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

12 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol-3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ADP + 2 H(+).
1-phosphatidylinositol-4-phosphate 3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
insulin receptor substrate binding	Binding to an insulin receptor substrate (IRS) protein, an adaptor protein that bind to the transphosphorylated insulin and insulin-like growth factor receptors, are themselves phosphorylated and in turn recruit SH2 domain-containing signaling molecules to form a productive signaling complex.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
phosphatidylinositol 3-kinase activity	Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring.
phosphatidylinositol kinase activity	Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate.
phosphatidylinositol-3,4-bisphosphate 5-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+).
phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+).
protein kinase activator activity	Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

50 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
adipose tissue development	The process whose specific outcome is the progression of adipose tissue over time, from its formation to the mature structure. Adipose tissue is specialized tissue that is used to store fat.
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
anoikis	Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix.
cardiac muscle cell contraction	The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of a cardiac muscle cell.
cardiac muscle contraction	Muscle contraction of cardiac muscle tissue.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to glucose stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
cellular response to hydrostatic pressure	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrostatic pressure stimulus. Hydrostatic pressure is the force acting on an object in a system where the fluid is at rest (as opposed to moving). The weight of the fluid above the object creates pressure on it.
endothelial cell migration	The orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
glucose metabolic process	The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides.
hypomethylation of CpG island	An decrease in the epigenetic methylation of cytosine and adenosine residues in a CpG island in DNA. CpG islands are genomic regions that contain a high frequency of the CG dinucleotide and are often associated with the transcription start site of genes.
insulin receptor signaling pathway via phosphatidylinositol 3-kinase	An insulin receptor signaling pathway in which the signal is transmitted via the phosphatidylinositol 3-kinase cascade.
liver development	The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes.
negative regulation of actin filament depolymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of actin depolymerization.
negative regulation of anoikis	Any process that stops, prevents or reduces the frequency, rate or extent of anoikis.
negative regulation of fibroblast apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of fibroblast apoptotic process.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of macroautophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of macroautophagy.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
phagocytosis	A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
phosphatidylinositol 3-kinase signaling	A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphatidylinositol-3-phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of lamellipodium assembly	Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of TOR signaling	Any process that activates or increases the frequency, rate or extent of TOR signaling.
protein kinase B signaling	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
regulation of actin filament organization	Any process that modulates the frequency, rate or extent of actin filament organization.
regulation of cellular respiration	Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds.
regulation of genetic imprinting	Any process that modulates the frequency, rate or extent of genetic imprinting.
regulation of multicellular organism growth	Any process that modulates the frequency, rate or extent of growth of the body of an organism so that it reaches its usual body size.
relaxation of cardiac muscle	The process in which the extent of cardiac muscle contraction is reduced.
response to activity	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an activity stimulus.
response to butyrate	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a butyrate stimulus.
response to dexamethasone	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.
response to leucine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leucine stimulus.
response to muscle inactivity	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muscle inactivity stimulus.
response to muscle stretch	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length.
T cell costimulation	The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.
vascular endothelial growth factor signaling pathway	The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
vasculature development	The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32871	PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Bos taurus (Bovine)	PR
P42338	PIK3CB	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Homo sapiens (Human)	PR
P48736	PIK3CG	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	Homo sapiens (Human)	PR
Q9UBF8	PI4KB	Phosphatidylinositol 4-kinase beta	Homo sapiens (Human)	PR
P42356	PI4KA	Phosphatidylinositol 4-kinase alpha	Homo sapiens (Human)	PR
O00443	PIK3C2A	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Homo sapiens (Human)	PR
O00329	PIK3CD	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Homo sapiens (Human)	PR
Q8BTI9	Pik3cb	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Mus musculus (Mouse)	PR
Q9JHG7	Pik3cg	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	Mus musculus (Mouse)	PR
O35904	Pik3cd	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Mus musculus (Mouse)	PR
P42337	Pik3ca	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Mus musculus (Mouse)	PR
O02697	PIK3CG	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	Sus scrofa (Pig)	PR
Q9Z1L0	Pik3cb	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Rattus norvegicus (Rat)	PR
Q94125	age-1	Phosphatidylinositol 3-kinase age-1	Caenorhabditis elegans	PR

10	20	30	40	50	60
MPPRPSSGEL	WGIHLMPPRI	LVECLLPNGM	IVTLECLREA	TLITIKHELF	KEARKYPLHQ
70	80	90	100	110	120
LLQDESSYIF	VSVTQEAERE	EFFDETRRLC	DLRLFQPFLK	VIEPVGNREE	KILNREIGFA
130	140	150	160	170	180
IGMPVCEFDM	VKDPEVQDFR	RNILNVCKEA	VDLRDLNSPH	SRAMYVYPPN	VESSPELPKH
190	200	210	220	230	240
IYNKLDKGQI	IVVIWVIVSP	NNDKQKYTLK	INHDCVPEQV	IAEAIRKKTR	SMLLSSEQLK
250	260	270	280	290	300
LCVLEYQGKY	ILKVCGCDEY	FLEKYPLSQY	KYIRSCIMLG	RMPNLMLMAK	ESLYSQLPMD
310	320	330	340	350	360
CFTMPSYSRR	ISTATPYMNG	ETSTKSLWVI	NSALRIKILC	ATYVNVNIRD	IDKIYVRTGI
370	380	390	400	410	420
YHGGEPLCDN	VNTQRVPCSN	PRWNEWLNYD	IYIPDLPRAA	RLCLSICSVK	GRKGAKEEHC
430	440	450	460	470	480
PLAWGNINLF	DYTDTLVSGK	MALNLWPVPH	GLEDLLNPIG	VTGSNPNKET	PCLELEFDWF
490	500	510	520	530	540
SSVVKFPDMS	VIEEHANWSV	SREAGFSYSH	AGLSNRLARD	NELRENDKEQ	LKAISTRDPL
550	560	570	580	590	600
SEITEQEKDF	LWSHRHYCVT	IPEILPKLLL	SVKWNSRDEV	AQMYCLVKDW	PPIKPEQAME
610	620	630	640	650	660
LLDCNYPDPM	VRGFAVRCLE	KYLTDDKLSQ	YLIQLVQVLK	YEQYLDNLLV	RFLLKKALTN
670	680	690	700	710	720
QRIGHFFFWH	LKSEMHNKTV	SQRFGLLLES	YCRACGMYLK	HLNRQVEAME	KLINLTDILK
730	740	750	760	770	780
QEKKDETQKV	QMKFLVEQMR	RPDFMDALQG	FLSPLNPAHQ	LGNLRLEECR	IMSSAKRPLW
790	800	810	820	830	840
LNWENPDIMS	ELLFQNNEII	FKNGDDLRQD	MLTLQIIRIM	ENIWQNQGLD	LRMLPYGCLS
850	860	870	880	890	900
IGDCVGLIEV	VRNSHTIMQI	QCKGGLKGAL	QFNSHTLHQW	LKDKNKGEIY	DAAIDLFTRS
910	920	930	940	950	960
CAGYCVATFI	LGIGDRHNSN	IMVKDDGQLF	HIDFGHFLDH	KKKKFGYKRE	RVPFVLTQDF
970	980	990	1000	1010	1020
LIVISKGAQE	CTKTREFERF	QEMCYKAYLA	IRQHANLFIN	LFSMMLGSGM	PELQSFDDIA
1030	1040	1050	1060
YIRKTLALDK	TEQEALEYFM	KQMNDAHHGG	WTTKMDWIFH	TIKQHALN