AiPD: Autoinhibited Protein Database

P48736

Gene name	PIK3CG
Protein name	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
Names	PI3-kinase subunit gamma, PI3K-gamma, PI3Kgamma, PtdIns-3-kinase subunit gamma, Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma, PtdIns-3-kinase subunit p110-gamma, p110gamma, Phosphoinositide-3-kinase catalytic gamma polypeptide, Serine/threonine protein kinase PIK3CG, p120-PI3K
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5294
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)

722-799 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

722-799 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

964-988 (Activation loop from InterPro)

Target domain	797-1094 (Phosphatidylinositol 3-/4-kinase, catalytic domain)
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

106 structures for P48736

Entry ID	Method	Resolution	Chain	Position	Source
1E8Y	X-ray	200 A	A	144-1102	PDB
1E8Z	X-ray	240 A	A	144-1102	PDB
1HE8	X-ray	300 A	A	144-1102	PDB
2A4Z	X-ray	290 A	A	144-1102	PDB
2A5U	X-ray	270 A	A	144-1102	PDB
2CHW	X-ray	260 A	A	144-1102	PDB
2CHX	X-ray	250 A	A	144-1102	PDB
2CHZ	X-ray	260 A	A	144-1102	PDB
2V4L	X-ray	250 A	A	144-1102	PDB
3APC	X-ray	254 A	A	144-1102	PDB
3APD	X-ray	255 A	A	144-1102	PDB
3APF	X-ray	282 A	A	144-1102	PDB
3CSF	X-ray	280 A	A	144-1102	PDB
3CST	X-ray	320 A	A	144-1102	PDB
3DBS	X-ray	280 A	A	144-1102	PDB
3DPD	X-ray	285 A	A	144-1102	PDB
3ENE	X-ray	240 A	A	144-1102	PDB
3IBE	X-ray	280 A	A	144-1102	PDB
3L08	X-ray	270 A	A	144-1102	PDB
3L13	X-ray	300 A	A	144-1102	PDB
3L16	X-ray	290 A	A	144-1102	PDB
3L17	X-ray	300 A	A	144-1102	PDB
3L54	X-ray	230 A	A	144-1102	PDB
3LJ3	X-ray	243 A	A	144-1102	PDB
3MJW	X-ray	287 A	A	144-1102	PDB
3ML8	X-ray	270 A	A	144-1102	PDB
3ML9	X-ray	255 A	A	144-1102	PDB
3NZS	X-ray	275 A	A	147-1094	PDB
3NZU	X-ray	260 A	A	147-1094	PDB
3OAW	X-ray	275 A	A	144-1102	PDB
3P2B	X-ray	320 A	A	144-1102	PDB
3PRE	X-ray	291 A	A	144-1102	PDB
3PRZ	X-ray	260 A	A	144-1102	PDB
3PS6	X-ray	260 A	A	144-1102	PDB
3QAQ	X-ray	290 A	A	144-1102	PDB
3QAR	X-ray	265 A	A	144-1102	PDB
3QJZ	X-ray	290 A	A	144-1102	PDB
3QK0	X-ray	285 A	A	144-1102	PDB
3R7Q	X-ray	250 A	A	144-1102	PDB
3R7R	X-ray	290 A	A	144-1102	PDB
3S2A	X-ray	255 A	A	144-1102	PDB
3SD5	X-ray	320 A	A	144-1102	PDB
3T8M	X-ray	250 A	A	144-1102	PDB
3TJP	X-ray	270 A	A	144-1102	PDB
3TL5	X-ray	279 A	A	144-1102	PDB
3ZVV	X-ray	250 A	A	144-1102	PDB
3ZW3	X-ray	280 A	A	144-1102	PDB
4ANU	X-ray	281 A	A	144-1102	PDB
4ANV	X-ray	213 A	A	144-1102	PDB
4ANW	X-ray	231 A	A	144-1102	PDB
4ANX	X-ray	273 A	A	144-1102	PDB
4AOF	X-ray	330 A	A	144-1102	PDB
4DK5	X-ray	295 A	A	144-1102	PDB
4EZJ	X-ray	267 A	A	144-1102	PDB
4EZK	X-ray	280 A	A	144-1102	PDB
4EZL	X-ray	294 A	A	144-1102	PDB
4F1S	X-ray	300 A	A	144-1102	PDB
4FA6	X-ray	270 A	A	144-1102	PDB
4FAD	X-ray	270 A	A	144-1102	PDB
4FHJ	X-ray	260 A	A	144-1102	PDB
4FHK	X-ray	300 A	A	144-1102	PDB
4FJY	X-ray	290 A	A	144-1102	PDB
4FJZ	X-ray	300 A	A	144-1102	PDB
4FLH	X-ray	260 A	A	144-1102	PDB
4FUL	X-ray	247 A	A	144-1102	PDB
4G11	X-ray	340 A	A	144-1102	PDB
4GB9	X-ray	244 A	A	144-1102	PDB
4HLE	X-ray	278 A	A	144-1102	PDB
4HVB	X-ray	235 A	A	144-1102	PDB
4J6I	X-ray	290 A	A	144-1102	PDB
4KZ0	X-ray	287 A	A	144-1102	PDB
4KZC	X-ray	325 A	A	144-1102	PDB
4PS3	X-ray	290 A	A	144-1102	PDB
4PS7	X-ray	269 A	A	144-1102	PDB
4PS8	X-ray	299 A	A	144-1102	PDB
4URK	X-ray	290 A	A	144-1102	PDB
4WWN	X-ray	270 A	A	144-1102	PDB
4WWO	X-ray	230 A	A	144-1102	PDB
4WWP	X-ray	240 A	A	144-1102	PDB
4XX5	X-ray	276 A	A	144-1102	PDB
4XZ4	X-ray	260 A	A	144-1102	PDB
5EDS	X-ray	280 A	A	144-1102	PDB
5G2N	X-ray	268 A	A	144-1102	PDB
5G55	X-ray	245 A	A	144-1102	PDB
5JHA	X-ray	251 A	A	144-1102	PDB
5JHB	X-ray	248 A	A	144-1102	PDB
5KAE	X-ray	265 A	A	144-1102	PDB
5OQ4	X-ray	270 A	A	144-1102	PDB
5T23	X-ray	278 A	A	144-1102	PDB
6AUD	X-ray	202 A	A	144-1102	PDB
6C1S	X-ray	231 A	A	144-1102	PDB
6FH5	X-ray	284 A	A	144-1102	PDB
6GQ7	X-ray	284 A	A	144-1102	PDB
6T3B	X-ray	301 A	A	144-1102	PDB
6T3C	X-ray	262 A	A	144-1102	PDB
6XRL	X-ray	299 A	A	144-1091	PDB
6XRM	X-ray	288 A	A	144-1091	PDB
6XRN	X-ray	296 A	A	144-1091	PDB
7JWE	X-ray	255 A	A	144-1102	PDB
7JWZ	X-ray	265 A	A	144-1102	PDB
7JX0	X-ray	315 A	A	144-1102	PDB
7KKE	X-ray	281 A	A	144-1102	PDB
7MEZ	EM	289 A	A	1-1102	PDB
7Z61	X-ray	274 A	A	144-1102	PDB
8DP0	EM	296 A	A	1-1102	PDB
AF-P48736-F1	Predicted				AlphaFoldDB

891 variants for P48736

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4429087 VAR_087092 rs774060880	49	R>S	IMD97; loss-of-function variant unable to rescue reduced T-cell activation when expressed in Jurkat PIK3CG-deficient cells [UniProt]	Yes	ClinGen ExAC TOPMed gnomAD UniProt
CA204155 RCV000190177 rs796052174	192	D>N	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000678669 rs767360862	238	D>missing	Keratoconus [ClinVar]	Yes	ClinVar dbSNP
CA350436 rs864622026 RCV000206396	472	R>C	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_087093 rs376453517 CA164129242	1021	R>P	IMD97; loss of phosphatidylinositol-3,4-bisphosphate 5-kinase activity [UniProt]	Yes	ClinGen ExAC TOPMed gnomAD UniProt
VAR_087094	1085	N>S	IMD97; loss-of-function variant unable to rescue reduced T-cell activation when expressed in Jurkat PIK3CG-deficient cells [UniProt]	Yes	UniProt
rs1425001374 CA368820669	2	E>G		No	ClinGen TOPMed
CA164159740 rs777512949	2	E>K		No	ClinGen TOPMed gnomAD
CA164159744 rs777512949	2	E>Q		No	ClinGen TOPMed gnomAD
rs1562952748 CA368820676	3	L>P		No	ClinGen Ensembl
CA368820678 rs1421718017	4	E>K		No	ClinGen TOPMed gnomAD
CA4429053 rs757965197	5	N>T		No	ClinGen ExAC gnomAD
COSM1312563 rs757808746 CA4429055	6	Y>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4429054 rs559570764	6	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368820719 rs1199243117	9	P>L		No	ClinGen TOPMed
CA4429057 rs746307759	9	P>S		No	ClinGen ExAC TOPMed gnomAD
CA164159791 COSM744254 rs927963993	10	V>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1273593548 CA368820729	11	V>G		No	ClinGen gnomAD
rs747163273 CA4429060	11	V>M		No	ClinGen ExAC TOPMed gnomAD
rs376062046 CA164159797	12	L>P		No	ClinGen ESP TOPMed
rs777538453 CA164159808	13	R>I		No	ClinGen ExAC gnomAD
rs777538453 CA4429062	13	R>K		No	ClinGen ExAC gnomAD
CA368820736 rs777538453	13	R>T		No	ClinGen ExAC gnomAD
TCGA novel CA368820741 rs1584314339	14	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA4429064 rs761955149	15	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1404417772 CA368820751	15	D>V		No	ClinGen TOPMed
CA164159839 rs145459032	16	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429065 rs145459032	16	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA368820759 rs1231633674	16	N>K		No	ClinGen TOPMed gnomAD
CA368820755 rs1584314379	16	N>T		No	ClinGen Ensembl
CA368820764 rs3729673	17	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA164159861 rs952660801	17	C>G		No	ClinGen TOPMed
rs773009910 CA4429066	17	C>Y		No	ClinGen ExAC gnomAD
rs142380460 CA4429069	18	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM43062 rs142380460 CA4429068	18	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4429071 rs767132637	19	R>K		No	ClinGen ExAC gnomAD
rs759138938 CA4429070	19	R>W		No	ClinGen ExAC gnomAD
rs1326957848 CA368820777	20	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4429073 rs755613711	21	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771734598 CA4429072 COSM1262198	21	R>W	liver oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	22	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368820785 rs1293906030	22	R>K		No	ClinGen gnomAD
CA164159921 rs893866491	23	M>I		No	ClinGen Ensembl
rs779528508 CA4429074	23	M>R		No	ClinGen ExAC gnomAD
CA368820803 rs1584314486	24	K>N		No	ClinGen Ensembl
rs750834144 CA4429075	25	P>R		No	ClinGen ExAC gnomAD
rs1339698935 CA368820813	26	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368820819 rs1270295206	27	S>N		No	ClinGen gnomAD
CA368820827 rs1341469233	28	A>D		No	ClinGen gnomAD
TCGA novel	28	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61757719 CA368820839	30	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61757719 CA4429079	30	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368820837 TCGA novel rs1212203463	30	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368820836 rs1212203463	30	A>T		No	ClinGen gnomAD
rs1196336571 CA368820853	31	S>I		No	ClinGen gnomAD
rs996071905 CA164159995	33	S>P		No	ClinGen TOPMed gnomAD
rs748296401 CA4429081	34	S>P		No	ClinGen ExAC gnomAD
rs938181734 CA164160012	35	M>T		No	ClinGen TOPMed gnomAD
rs142342118 CA164160033	36	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA164160047 rs1030013667	36	E>G		No	ClinGen TOPMed
CA4429083 rs142342118	36	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs915508347 CA164160062	37	L>F		No	ClinGen TOPMed gnomAD
CA4429084 rs762757718	40	I>F		No	ClinGen ExAC TOPMed gnomAD
CA368820972 rs1226250464	41	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA164160082 rs796408783	42	F>L		No	ClinGen Ensembl
rs1268105045 CA368820994	42	F>S		No	ClinGen gnomAD
CA368821002 rs1346474355	43	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368821001 rs1346474355	43	V>M		No	ClinGen gnomAD
CA368821024 rs1234431076	45	P>R		No	ClinGen gnomAD
rs1584314673 CA368821044	46	T>I		No	ClinGen Ensembl
CA368821030 rs1584314669	46	T>P		No	ClinGen Ensembl
rs1014717088 CA164160102	47	S>T		No	ClinGen TOPMed
CA4429086 rs774060880	49	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1644892 CA368821082 rs1446853033	49	R>H	salivary_gland [Cosmic]	No	ClinGen cosmic curated gnomAD
CA368821096 rs1191287143	50	K>R		No	ClinGen gnomAD
CA164160127 rs144650421	51	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs144650421 CA4429088	51	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173131572 CA368821120	52	K>Q		No	ClinGen gnomAD
CA4429090 rs559302651	52	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA164160154 rs540366635 COSM1447096	53	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4429092 rs750966470	54	P>A		No	ClinGen ExAC TOPMed gnomAD
rs758881061 CA4429093	54	P>H		No	ClinGen ExAC gnomAD
CA368821169 rs1158811657	55	E>G		No	ClinGen TOPMed
CA368821160 rs1381484125	55	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1315748037 CA368821187	56	T>K		No	ClinGen gnomAD
rs1315748037 COSM1447097 CA368821191	56	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4429095 rs752039271 COSM375344	57	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs370485774 CA4429097	58	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA368821257 rs373644334	63	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373644334 CA4429101	63	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429100 rs373644334	63	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4429102 rs749364940	65	G>R		No	ClinGen ExAC TOPMed gnomAD
CA164160251 rs749364940	65	G>S		No	ClinGen ExAC TOPMed gnomAD
CA368821295 rs1269689685	66	N>D		No	ClinGen gnomAD
TCGA novel	68	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429103 rs770811999	68	E>K		No	ClinGen ExAC gnomAD
CA368821330 rs1193027172	69	Q>E		No	ClinGen gnomAD
rs201310075 CA164160268	70	M>L		No	ClinGen gnomAD
CA368821345 rs201310075	70	M>V		No	ClinGen gnomAD
CA368821369 rs1183868916	72	A>T		No	ClinGen gnomAD
CA4429105 rs745718171	73	Q>K		No	ClinGen ExAC gnomAD
CA4429108 rs775123876	74	V>A		No	ClinGen ExAC TOPMed
rs1396145798 CA368821403	74	V>L		No	ClinGen TOPMed gnomAD
rs1368134057 CA368821429	75	W>C		No	ClinGen gnomAD
rs1448416221 CA368821444	77	R>*		No	ClinGen gnomAD
CA368821452 rs1308301660	78	A>T		No	ClinGen gnomAD
CA4429110 rs763784435 COSM1220606	79	L>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1335642291 CA368821475	81	T>I		No	ClinGen gnomAD
rs1335642291 CA368821473	81	T>N		No	ClinGen gnomAD
CA368821476 rs761383890	82	S>C		No	ClinGen ExAC gnomAD
CA4429112 rs761383890	82	S>G		No	ClinGen ExAC gnomAD
CA368821488 rs1196484764	83	V>L		No	ClinGen gnomAD
CA368821502 rs766854286	84	A>G		No	ClinGen ExAC TOPMed gnomAD
rs766854286 COSM2157216 CA4429113	84	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752055614 CA4429114	85	A>E		No	ClinGen ExAC TOPMed gnomAD
rs928194932 CA164160347	85	A>S		No	ClinGen Ensembl
rs1179314827 CA368821520	86	D>N		No	ClinGen TOPMed gnomAD
rs1034199475 CA164160370	86	D>V		No	ClinGen TOPMed
CA368821556 rs1584315105	87	F>V		No	ClinGen Ensembl
CA368821586 rs147631551	88	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429117 rs147631551	88	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429120 rs749392283	90	R>Q	Variant assessed as Somatic; 4.821e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368821628 rs778022267 COSM98949	90	R>W	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1390175513 CA368821646	91	L>V		No	ClinGen gnomAD
CA4429122 rs778832310	92	G>E		No	ClinGen ExAC gnomAD
CA4429123 rs745734727	94	H>R		No	ClinGen ExAC TOPMed gnomAD
CA368821692 rs1233096819	94	H>Y		No	ClinGen gnomAD
rs1324641766 CA368821729	95	H>D		No	ClinGen TOPMed
CA368821756 rs1205233694	96	F>S		No	ClinGen gnomAD
TCGA novel	99	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429127 rs768263067	100	Y>C		No	ClinGen ExAC gnomAD
rs1186998186 CA368821895	104	G>A		No	ClinGen TOPMed gnomAD
rs1186998186 CA368821894	104	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1429946228 CA368821904	105	Q>*		No	ClinGen TOPMed gnomAD
CA164160487 rs931789610	106	W>R		No	ClinGen TOPMed
rs769318398 CA4429130	108	E>*		No	ClinGen ExAC gnomAD
rs769318398 CA164160502	108	E>K		No	ClinGen ExAC gnomAD
CA368821951 rs769318398	108	E>Q		No	ClinGen ExAC gnomAD
rs372642077 CA164160504	109	I>T		No	ClinGen ESP TOPMed
CA4429132 rs760070255	111	D>H		No	ClinGen ExAC gnomAD
CA368821994 rs760070255	111	D>N		No	ClinGen ExAC gnomAD
rs1562953435 CA368822022	112	K>N		No	ClinGen Ensembl
rs768114937 CA4429134	115	V>L		No	ClinGen ExAC gnomAD
rs768114937 CA4429133	115	V>M		No	ClinGen ExAC gnomAD
rs890365557 CA164160539	116	V>M		No	ClinGen Ensembl
CA164160544 rs1004588139	118	T>N		No	ClinGen gnomAD
CA368822094 rs1399987535	118	T>S		No	ClinGen gnomAD
CA4429135 rs761095585	120	D>V		No	ClinGen ExAC gnomAD
CA164160567 rs1014970881	121	C>G		No	ClinGen Ensembl
rs372102021 CA4429137	121	C>Y		No	ClinGen ESP ExAC gnomAD
COSM1083774 CA4429138 rs200423506	123	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1584315430 CA368822169	124	Y>C		No	ClinGen Ensembl
rs778920416 CA4429139 CA164160586	125	W>R		No	ClinGen ExAC TOPMed
CA368822196 rs1295197342	126	K>E		No	ClinGen gnomAD
rs758375337 CA4429141	128	T>M		No	ClinGen ExAC gnomAD
CA4429142 rs758375337	128	T>R		No	ClinGen ExAC gnomAD
rs1584315459 CA368822221	128	T>S		No	ClinGen Ensembl
CA368822248 CA4429145 rs780713089	129	H>Q		No	ClinGen ExAC gnomAD
COSM1471953 rs747797529 CA4429146	130	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA368822252 rs1462095883	130	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4429148 rs772898129	131	S>G		No	ClinGen ExAC gnomAD
CA4429149 rs762519363	131	S>I		No	ClinGen ExAC
rs776125025 CA4429152	131	S>R		No	ClinGen ExAC gnomAD
rs762519363 CA4429150	131	S>T		No	ClinGen ExAC
CA4429153 rs760958737	132	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1213482934 CA368822292	133	G>C		No	ClinGen TOPMed
CA368822302 rs1174993618	134	Q>E		No	ClinGen gnomAD
CA164160703 rs772173250	134	Q>R		No	ClinGen Ensembl
CA368822335 rs1584315597	136	H>Q		No	ClinGen Ensembl
CA4429159 rs140339749	138	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140339749 CA4429158	138	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429160 rs779981774	139	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4429162 rs754761135	140	R>Q		No	ClinGen ExAC gnomAD
COSM1732791 CA368822353 rs751449393	140	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA368822356 rs367817179	141	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1355038664 CA368822358	141	H>L		No	ClinGen TOPMed
CA4429163 rs367817179	141	H>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1233472525 CA368822362	141	H>Q		No	ClinGen TOPMed gnomAD
CA368822357 rs367817179	141	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs769610777 CA4429165	143	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777561628 CA4429166	144	S>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	145	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368822382 rs770504377	145	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4429168 rs770504377	145	E>G		No	ClinGen ExAC TOPMed gnomAD
CA368822380 rs1484695035	145	E>Q		No	ClinGen TOPMed gnomAD
CA368822383 rs770504377	145	E>V		No	ClinGen ExAC TOPMed gnomAD
CA4429170 rs200355499	146	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA368822401 rs1459319198	148	Q>K		No	ClinGen TOPMed
rs768921216 CA4429171	149	A>D		No	ClinGen ExAC TOPMed gnomAD
CA368822410 rs768921216	149	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1192283060 CA368822407	149	A>T		No	ClinGen gnomAD
CA368822411 rs768921216	149	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777098032 CA4429172	150	F>C		No	ClinGen ExAC
rs1305328458 CA368822414	150	F>V		No	ClinGen TOPMed
CA368822429 rs762164881	152	R>P		No	ClinGen ExAC gnomAD
CA4429173 rs762164881	152	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1463222028 COSM3431069 CA368822450	155	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368822455 rs1370328855	156	A>G		No	ClinGen gnomAD
CA368822456 COSM1579094 rs1370328855	156	A>V	upper_aerodigestive_tract central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4429177 rs138562997	158	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751474737 CA4429178	161	D>Y		No	ClinGen ExAC gnomAD
CA368822500 rs1224069164	163	T>I		No	ClinGen TOPMed gnomAD
CA368822499 rs1224069164	163	T>S		No	ClinGen TOPMed gnomAD
CA4429180 rs767326273	164	D>G		No	ClinGen ExAC gnomAD
rs755959035 CA4429182	165	V>A		No	ClinGen ExAC TOPMed gnomAD
rs752602335 COSM598228 CA4429181	165	V>I	lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777578185 CA4429183	166	S>C		No	ClinGen ExAC gnomAD
rs1237154085 CA368822519	167	N>H		No	ClinGen gnomAD
CA368822531 rs778434743	168	V>A		No	ClinGen ExAC gnomAD
rs778434743 CA4429186	168	V>G		No	ClinGen ExAC gnomAD
rs1176924685 CA368822539	169	H>Q		No	ClinGen gnomAD
CA164160949 rs959746575	170	D>G		No	ClinGen TOPMed gnomAD
CA368822540 rs1406220505	170	D>N		No	ClinGen gnomAD
rs1381068249 CA368822552	171	D>E		No	ClinGen TOPMed gnomAD
CA4429189 rs549157001	171	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA368822554 rs1459908368	172	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371603478 CA164160966	172	E>V		No	ClinGen Ensembl
CA4429191 rs569219747	173	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA368822564 rs569219747	173	L>R		No	ClinGen 1000Genomes ExAC gnomAD
rs569878043 CA164160996	175	F>L		No	ClinGen Ensembl
CA4429192 rs773456619	176	T>M		No	ClinGen ExAC gnomAD
CA4429195 rs774529326	177	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1157393554 CA368822592	178	R>C		No	ClinGen gnomAD
CA368822598 rs1248922498	179	G>R		No	ClinGen TOPMed
CA368822614 rs1584316054	181	V>G		No	ClinGen Ensembl
CA164161029 rs368836634	182	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA368822618 rs368836634	182	T>N		No	ClinGen ESP
CA4429199 rs755975307	183	P>L		No	ClinGen ExAC gnomAD
rs752518004 CA4429198	183	P>S		No	ClinGen ExAC gnomAD
CA368822625 rs1189118505	184	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763939338 CA4429200	184	R>P		No	ClinGen ExAC gnomAD
CA368822629 rs1169929563	185	M>V		No	ClinGen gnomAD
rs1415434072 CA368822638	186	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757016725 CA4429202	186	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4429204 rs745445867	187	E>A		No	ClinGen ExAC gnomAD
CA368822652 rs1584316145	188	V>G		No	ClinGen Ensembl
rs946794098 CA164161062	188	V>M		No	ClinGen TOPMed gnomAD
rs757791576 CA4429205	190	S>C		No	ClinGen ExAC gnomAD
CA368822666 rs781726578 CA4429206	190	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748616034 CA4429207	191	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1445337101 CA368822669	191	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368822674 rs1584316191	192	D>G		No	ClinGen Ensembl
CA164161087 rs796052174	192	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs771251636 CA4429211	193	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749620239 CA4429210	193	P>S		No	ClinGen ExAC
rs749620239 CA368822678	193	P>T		No	ClinGen ExAC
rs867096990 CA368822682	194	K>E		No	ClinGen gnomAD
rs867096990 CA164161142	194	K>Q		No	ClinGen gnomAD
CA4429213 rs370215200	194	K>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	194	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257245065 CA368822688	195	L>I		No	ClinGen gnomAD
rs771976712 CA368822692	195	L>P		No	ClinGen ExAC gnomAD
rs771976712 CA4429214	195	L>R		No	ClinGen ExAC gnomAD
rs760638407 CA368822699	196	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs182921583 CA4429217	197	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753756610 CA4429218	197	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4429219 rs761502843	198	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1584316291 CA368822741	202	V>G		No	ClinGen Ensembl
rs1301597142 CA368822743	203	T>A		No	ClinGen TOPMed
rs1377001952 CA368822746	203	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1562954034 CA368822748	204	S>T		No	ClinGen Ensembl
CA4429221 rs749980101	205	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4429224 rs751048583	208	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778247720 CA4429226	209	E>V		No	ClinGen ExAC gnomAD
rs1417633134 CA368822803	212	W>*		No	ClinGen TOPMed
rs533928881 CA4429227	212	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs771142900 CA4429228	215	I>T		No	ClinGen ExAC gnomAD
CA164161226 rs1036047016	216	A>G		No	ClinGen TOPMed gnomAD
CA4429229 rs779200246	217	N>I		No	ClinGen ExAC gnomAD
rs1280292901 CA368822845	218	N>T		No	ClinGen gnomAD
rs746034757 CA4429230	219	C>Y		No	ClinGen ExAC gnomAD
CA368822863 rs1277722558	220	I>M		No	ClinGen gnomAD
COSM1547858 CA4429232 rs554272230	223	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA368822897 rs554272230	223	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1186687728 CA368822906	224	I>L		No	ClinGen gnomAD
rs1254950243 CA368822911	224	I>T		No	ClinGen gnomAD
COSM1239843 CA4429235 rs760803722	226	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4429234 rs760803722	226	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1490061702 CA368822930	226	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	227	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761676385 CA4429238	229	T>A		No	ClinGen ExAC gnomAD
TCGA novel	231	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750113758 CA4429240	236	S>L		No	ClinGen ExAC gnomAD
rs778266273 CA4429246	238	D>E		No	ClinGen ExAC gnomAD
CA4429244 COSM200485 rs149432307	238	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4429245 rs149432307	238	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
COSM289750 CA4429247 rs754275924	239	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368823155 rs754275924	239	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1222820137 CA368823169	240	T>A		No	ClinGen TOPMed
rs1280517942 CA368823202	242	G>S		No	ClinGen gnomAD
CA368823222 rs1207051578	243	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1383953795 CA368823235	244	I>V		No	ClinGen TOPMed
CA368823256 rs1385948934	245	L>P		No	ClinGen TOPMed
CA4429251 rs370717062	246	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213164742 CA368823268	246	Q>R		No	ClinGen TOPMed gnomAD
rs374827875 CA4429252	247	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375848575 CA4429253	248	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	251	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368823369 rs1412335442	252	M>I		No	ClinGen gnomAD
TCGA novel	252	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368823372 rs1183980892	253	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA164161350 rs904950819	254	K>E		No	ClinGen gnomAD
TCGA novel	255	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1003720916 CA164161368	259	M>V		No	ClinGen Ensembl
CA368823520 rs1400336407	260	D>G		No	ClinGen gnomAD
CA4429256 rs370152741	263	E>K	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769749487 CA4429257	265	Q>P		No	ClinGen ExAC gnomAD
rs762805000 CA4429259	267	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1673431 rs1226994105 CA368823813	273	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368823824 rs1462539802 COSM200486	274	V>I	pancreas large_intestine Variant assessed as Somatic; impact. endometrium central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4429261 rs773933093	276	G>S		No	ClinGen ExAC gnomAD
CA4429262 rs759051165	280	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	280	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263750505 CA368823991	283	G>S		No	ClinGen TOPMed gnomAD
COSM3718684 CA164161466 rs376958957	284	E>K	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1251220989 CA368824022	285	T>M		No	ClinGen TOPMed gnomAD
CA4429265 rs542083249	287	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368824059 rs1475339032	288	K>R		No	ClinGen gnomAD
rs1163705888 CA368824080	289	N>K		No	ClinGen TOPMed gnomAD
CA4429267 rs760413478	290	F>L		No	ClinGen ExAC TOPMed gnomAD
rs112943477 CA4429269	295	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4429268 rs148558253	295	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA368824137 rs1273957018	295	H>Y		No	ClinGen gnomAD
CA4429271 rs755134917	300	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747198572 CA4429270	300	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368825509 rs748229046	305	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748229046 CA4429273	305	V>M		No	ClinGen ExAC TOPMed gnomAD
rs144045366 CA164161568	306	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429275 rs144045366	306	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs769688408 CA4429274	306	V>I		No	ClinGen ExAC gnomAD
CA368825530 rs1457515777	307	L>V		No	ClinGen TOPMed gnomAD
rs1196800615 CA368825539	308	D>N		No	ClinGen gnomAD
rs749048019 CA4429276	309	T>A		No	ClinGen ExAC TOPMed gnomAD
rs373864078 CA164161584	309	T>K		No	ClinGen ESP gnomAD
rs1446063518 CA368825582	311	P>A		No	ClinGen TOPMed
rs1243325389 CA368825617	313	P>S		No	ClinGen TOPMed
rs1562954428 CA368825639	314	A>V		No	ClinGen Ensembl
TCGA novel	315	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368825653 rs1251779029	316	D>E		No	ClinGen gnomAD
COSM461705 CA4429278 rs147267699	316	D>H	cervix [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed
rs759136884 CA368825656	317	E>*		No	ClinGen ExAC TOPMed gnomAD
CA4429279 rs759136884	317	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368825658 rs1198782570	317	E>V		No	ClinGen TOPMed gnomAD
CA368825683 rs1361906308	321	E>K		No	ClinGen TOPMed
rs774900026 CA368825692	322	E>*		No	ClinGen ExAC gnomAD
rs774900026 CA4429281	322	E>K		No	ClinGen ExAC gnomAD
CA368825711 rs760224981	324	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4429282 rs760224981	324	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1253700161 CA368825715	325	L>P		No	ClinGen TOPMed gnomAD
CA368825714 rs1253700161	325	L>Q		No	ClinGen TOPMed gnomAD
rs1584317026 CA368825722	326	V>G		No	ClinGen Ensembl
rs1429721824 CA368825717	326	V>M		No	ClinGen gnomAD
rs849390 CA368825729	327	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429286 rs367672522	328	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395210099 CA368825743	329	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4429288 RCV000888109 rs62001906	330	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756159091 CA4429291	331	G>A		No	ClinGen ExAC TOPMed gnomAD
CA4429293 rs532978062	332	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201525740 CA368825768	334	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4429295 rs201525740	334	G>S		No	ClinGen ExAC TOPMed gnomAD
rs745628023 CA4429296	334	G>V		No	ClinGen ExAC gnomAD
rs775191750 CA4429298	335	Y>*		No	ClinGen ExAC gnomAD
CA368825781 rs1584317139	336	H>P		No	ClinGen Ensembl
rs768174679 CA4429300	337	E>A		No	ClinGen ExAC gnomAD
CA368825798 rs1562954561	338	Q>H		No	ClinGen Ensembl
CA4429301 rs773619202	338	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1486644188 CA368825803	339	L>H		No	ClinGen gnomAD
rs763607764 CA4429302	342	H>D		No	ClinGen ExAC gnomAD
rs752037338 CA4429304	343	G>S		No	ClinGen ExAC gnomAD
CA164161825 rs902659180	344	K>R		No	ClinGen TOPMed gnomAD
rs1432929391 CA368825847	345	D>G		No	ClinGen gnomAD
rs904952642 CA164161832	346	H>N		No	ClinGen Ensembl
CA368825871 rs1228017840	347	E>A		No	ClinGen Ensembl
COSM1083787 rs1019173373 CA164161849	347	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs752896730 COSM273109 CA4429307	347	E>K	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1281619231 COSM94993 CA368825892	348	S>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA368825888 rs1281619231	348	S>N		No	ClinGen TOPMed
rs1584317242 CA368825896	348	S>R		No	ClinGen Ensembl
CA164161858 rs1056645523	352	V>L		No	ClinGen TOPMed
CA164161865 rs868263278 COSM136625	353	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1584317301 CA368826000	356	D>G		No	ClinGen Ensembl
rs372885634 CA4429309	356	D>N		No	ClinGen ESP ExAC gnomAD
CA164161880 COSM3431070 rs62001903	358	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4429310 rs62001903	358	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs187257485 CA4429311	359	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA4429312 rs144565710	359	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144565710 COSM3949706 CA4429313	359	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs556212355 CA164161945	360	K>N		No	ClinGen ExAC gnomAD
CA164161922 rs138274380	360	K>Q		No	ClinGen Ensembl
CA368826120 CA4429316 rs746626966	361	F>L		No	ClinGen ExAC gnomAD
rs374506356 CA4429317	362	R>G		No	ClinGen ESP ExAC TOPMed
CA4429318 rs776245012	362	R>K		No	ClinGen ExAC gnomAD
CA4429320 rs771624561	364	K>R		No	ClinGen ExAC gnomAD
rs1209717028 CA368826188	365	I>M		No	ClinGen gnomAD
TCGA novel	367	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022592657 CA164162001	368	I>V		No	ClinGen TOPMed gnomAD
CA368826251 rs774943298	369	D>A		No	ClinGen ExAC TOPMed gnomAD
CA164162019 rs951694513	369	D>E		No	ClinGen TOPMed gnomAD
CA4429321 rs774943298	369	D>G		No	ClinGen ExAC TOPMed gnomAD
rs984516467 CA164162020	370	I>S		No	ClinGen TOPMed gnomAD
rs907639223 CA368826285	371	P>A		No	ClinGen TOPMed gnomAD
CA164162046 rs867508125	371	P>L		No	ClinGen Ensembl
rs907639223 CA164162045	371	P>T		No	ClinGen TOPMed gnomAD
rs1158677193 CA368826297	372	V>I		No	ClinGen TOPMed gnomAD
rs1158677193 CA368826299	372	V>L		No	ClinGen TOPMed gnomAD
rs759982158 CA368826341	375	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4429322 rs759982158	375	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1463041855 CA368826336	375	R>W		No	ClinGen gnomAD
rs752883989 CA4429324	377	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4429328 rs569081649	378	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs753981231 COSM1083789 CA4429327	378	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4429333 rs746754356	383	V>A		No	ClinGen ExAC gnomAD
CA368826521 rs1346597375	384	E>D		No	ClinGen TOPMed
rs754727441 CA4429334	387	I>M		No	ClinGen ExAC gnomAD
rs780980041 CA4429335	389	H>Y		No	ClinGen ExAC
rs747676202 CA4429336	390	G>R		No	ClinGen ExAC gnomAD
CA368826735 rs1181947222	395	C>Y		No	ClinGen gnomAD
rs1055726601 CA164162174	396	Q>R		No	ClinGen TOPMed
CA368826768 rs1249807230	397	R>G		No	ClinGen gnomAD
rs1399955792 CA368826812	398	R>S		No	ClinGen TOPMed
CA368826888 rs1165994039	402	K>R		No	ClinGen gnomAD
CA368826918 rs1369636691	404	F>V		No	ClinGen TOPMed gnomAD
CA368826937 rs1403728519	405	T>P		No	ClinGen gnomAD
rs962211826 CA164162196	405	T>R		No	ClinGen Ensembl
rs760940227 CA4429342	406	E>D		No	ClinGen ExAC gnomAD
rs1477044898 CA368827020	409	L>R		No	ClinGen TOPMed
rs1194159143 CA368827051	411	N>D		No	ClinGen TOPMed
CA4429346 rs148196703	412	V>M		No	ClinGen ESP ExAC gnomAD
rs750484141 CA4429347	418	I>T		No	ClinGen ExAC gnomAD
CA164162282 rs190369559	418	I>V		No	ClinGen 1000Genomes gnomAD
rs758405714 CA4429348	420	I>T		No	ClinGen ExAC gnomAD
TCGA novel	424	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343504981 CA368827335	425	K>R		No	ClinGen gnomAD
rs1486895030 CA368827361	428	L>P		No	ClinGen gnomAD
rs754673452 CA4429351	429	L>V		No	ClinGen ExAC gnomAD
rs371891504 CA164162350	431	L>F		No	ClinGen ESP TOPMed
CA4429353 rs541565025	432	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs902636380 CA164162381	433	I>M		No	ClinGen TOPMed gnomAD
rs755707095 CA4429354	433	I>V		No	ClinGen ExAC gnomAD
CA368827444 rs777473829	434	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4429355 rs777473829	434	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1790423394 RCV001813060	436	G>D		No	ClinVar dbSNP
rs376853134 CA4429356	436	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA368827486 rs1362831321	437	K>N		No	ClinGen TOPMed
rs772698550 CA4429357	438	A>P		No	ClinGen ExAC TOPMed gnomAD
rs772698550 COSM1663506 CA368827494	438	A>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772698550 CA368827489	438	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1271443737 CA368827497	438	A>V		No	ClinGen gnomAD
rs1470090569 CA368827499	439	P>A		No	ClinGen TOPMed
COSM3949709 CA368827519 rs17847825	442	S>F	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4429358 rs17847825	442	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747410313 CA368827520	443	S>G		No	ClinGen ExAC gnomAD
CA4429359 rs747410313	443	S>R		No	ClinGen ExAC gnomAD
CA4429360 COSM271467 rs150482982	445	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM40465 CA4429361 rs776863655	445	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4429362 rs376675940	449	S>C		No	ClinGen ESP ExAC gnomAD
rs1562954997 CA368827632	450	P>L		No	ClinGen Ensembl
rs1562954993 CA368827621	450	P>S		No	ClinGen Ensembl
CA4429365 rs762929566	455	K>R		No	ClinGen ExAC gnomAD
CA4429366 rs553869172	456	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs751388511 CA4429367	457	K>N		No	ClinGen ExAC gnomAD
rs1315135765 CA368827777	457	K>R		No	ClinGen gnomAD
rs1388270746 CA368827847	460	L>F		No	ClinGen gnomAD
rs1056639757 CA368827870	461	L>F		No	ClinGen TOPMed
rs1562955052 CA368827874	461	L>H		No	ClinGen Ensembl
rs1056639757 CA164162513	461	L>V		No	ClinGen TOPMed
rs201887530 CA4429368	462	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs767370252 CA4429369	463	Y>C		No	ClinGen ExAC gnomAD
rs1562955073 CA368827966	465	N>I		No	ClinGen Ensembl
CA164162562 rs879033178	469	I>L		No	ClinGen TOPMed
rs368931206 CA4429372	469	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs879033178 CA368828061	469	I>V		No	ClinGen TOPMed
CA368828111 rs1373838181	471	H>N		No	ClinGen gnomAD
CA368828146 rs751167601	472	R>H		No	ClinGen TOPMed
CA164162596 rs751167601	472	R>P		No	ClinGen TOPMed
CA368828138 rs864622026	472	R>S		No	ClinGen TOPMed gnomAD
rs1274619913 CA368828184	474	L>V		No	ClinGen gnomAD
CA4429373 rs753442376	475	L>V		No	ClinGen ExAC gnomAD
CA4429374 rs567756361	476	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747427177 CA4429376	476	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4429375 rs567756361	476	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138344795 CA4429377 COSM3784032	477	R>C	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138344795 CA368828233	477	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200175951 COSM1083796 CA4429379	477	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA164162649 rs200175951	477	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1171260961 CA368828255	478	G>E		No	ClinGen TOPMed
CA4429380 rs748511834	478	G>R		No	ClinGen ExAC TOPMed gnomAD
CA368828309 rs756992475	480	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1344460617 CA368828328	481	V>A		No	ClinGen Ensembl
CA164162662 rs951668629	484	M>T		No	ClinGen TOPMed
TCGA novel	486	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368828418 rs1285682080	486	Q>P		No	ClinGen gnomAD
rs1165692640 CA368828431	487	I>V		No	ClinGen TOPMed
CA164162670 rs143954315	488	S>F		No	ClinGen ESP TOPMed gnomAD
rs1376848050 CA368828448	488	S>P		No	ClinGen gnomAD
CA164162676 rs147304217	489	G>E		No	ClinGen ESP gnomAD
CA164162679 rs376127490	491	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
TCGA novel	492	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164162693 rs200755385	493	D>Y		No	ClinGen Ensembl
CA368828585 RCV001002607 rs1584318294	494	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA368828691 rs1456189966	498	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368828867 rs1317978480	505	A>V		No	ClinGen gnomAD
rs201694007 CA4429383	506	T>A		No	ClinGen ExAC TOPMed gnomAD
CA368828879 rs201694007	506	T>P		No	ClinGen ExAC TOPMed gnomAD
RCV001813059 rs140765012 CA4429384	509	D>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs774366285 CA4429385 COSM25369	511	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1083798 rs1329690412 CA368829054	513	S>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs955586944 CA164162749	514	M>T		No	ClinGen TOPMed gnomAD
RCV001267782 rs199845412 CA4429387	514	M>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4429388 rs752605566	518	I>V		No	ClinGen ExAC TOPMed gnomAD
rs61749915 CA4429389	522	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429390 rs61749915	522	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368829271 rs1584318409	525	H>P		No	ClinGen Ensembl
CA4429391 rs753362247	525	H>Y		No	ClinGen ExAC gnomAD
CA164162804 rs749714535	526	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749714535 CA368829297	526	P>Q		No	ClinGen gnomAD
rs749714535 CA368829300	526	P>R		No	ClinGen gnomAD
CA368829348 rs1449605501	529	L>M		No	ClinGen TOPMed gnomAD
CA164162826 rs201202352	534	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4429396 rs201202352	534	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4429398 rs61749916	535	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429399 rs778089446	536	P>A		No	ClinGen ExAC gnomAD
CA4429400 rs182937691	537	D>E		No	ClinGen 1000Genomes ExAC gnomAD
RCV001002094 CA4429401 COSM484597 rs142822484	538	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368829500 rs142822484	538	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368829502 rs1205809619	539	E>K		No	ClinGen Ensembl
CA4429402 rs774334457	542	R>G		No	ClinGen ExAC gnomAD
rs151218078 CA4429404	542	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs151218078 CA4429403	542	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429406 rs760550327	543	V>F		No	ClinGen ExAC gnomAD
rs867282260 CA164162888 COSM3778003	544	R>*	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs766453335 CA164162889	544	R>L		No	ClinGen gnomAD
CA368829533 rs766453335	544	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763755361 CA164162895 CA4429407	547	M>I		No	ClinGen ExAC gnomAD
CA4429408 rs776466677	549	N>S		No	ClinGen ExAC gnomAD
rs761414831 CA4429409	550	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs761414831 CA368829568	550	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA4429411 rs749993741	551	L>F		No	ClinGen ExAC gnomAD
rs757849968 CA4429412 COSM42950	552	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1182076194 COSM1083800 CA368829582	552	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4429413 rs768020268	553	K>N		No	ClinGen ExAC gnomAD
CA368829594 rs1257863960	554	Q>*		No	ClinGen TOPMed gnomAD
CA4429414 rs376883235	554	Q>R		No	ClinGen ESP ExAC gnomAD
CA368829610 rs1367174735	556	E>G		No	ClinGen gnomAD
TCGA novel	557	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432154378 CA368829614	557	A>T		No	ClinGen gnomAD
CA4429415 rs139426517	557	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4429417 rs749631229	558	I>S		No	ClinGen ExAC gnomAD
CA164162962 rs369725069	560	A>G		No	ClinGen Ensembl
TCGA novel	560	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403218248 CA368829647	562	D>G		No	ClinGen gnomAD
rs779178136 CA4429419	563	P>L		No	ClinGen ExAC
CA4429420 rs745959143	564	L>F		No	ClinGen ExAC gnomAD
CA368829664 rs1490092398	565	N>S		No	ClinGen TOPMed
CA368829674 rs1217690412	566	P>H		No	ClinGen TOPMed
rs1217690412 CA368829672	566	P>R		No	ClinGen TOPMed
rs1310649681 CA368829671	566	P>S		No	ClinGen gnomAD
CA368829694 rs1367528542	568	T>R		No	ClinGen gnomAD
rs1341137768 CA368829720	570	E>A		No	ClinGen gnomAD
CA4429422 rs775598002	571	D>V		No	ClinGen ExAC gnomAD
TCGA novel	571	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746892044 CA4429423	573	E>D		No	ClinGen ExAC gnomAD
CA368829814 rs1562955521	577	H>Y		No	ClinGen Ensembl
CA4429426 rs761655879	581	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761655879 CA164162997	581	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1379222461 CA368830008	585	H>Y		No	ClinGen gnomAD
rs1390122851 CA368830023	586	P>R		No	ClinGen gnomAD
CA4429428 rs146487441	588	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA368830062 rs1178692056	588	A>V		No	ClinGen gnomAD
rs140864387 CA4429430	590	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140864387 CA4429429	590	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429432 rs756617215	591	K>E		No	ClinGen ExAC gnomAD
rs1390897729 CA368830123	591	K>N		No	ClinGen gnomAD
rs1435936856 CA368830126	592	L>I		No	ClinGen gnomAD
rs1321096881 CA368830147	593	F>Y		No	ClinGen gnomAD
rs1212528123 CA368830162	594	S>I		No	ClinGen TOPMed gnomAD
COSM598224 rs1212528123 CA368830160	594	S>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4429435 rs757579639	597	K>T		No	ClinGen ExAC gnomAD
CA368830321 rs1232039079	603	I>T		No	ClinGen gnomAD
rs1253926533 CA368830328	604	V>M		No	ClinGen gnomAD
TCGA novel	605	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779006938 CA4429436	605	A>T		No	ClinGen ExAC gnomAD
CA368830420 rs1463926431	609	Q>L		No	ClinGen gnomAD
TCGA novel	612	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164163045 rs1043937061	614	R>S		No	ClinGen Ensembl
rs1426277818 CA368830508	615	E>K		No	ClinGen TOPMed gnomAD
CA4429439 rs780323892	617	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1174160547 CA368830582	619	Q>P		No	ClinGen gnomAD
TCGA novel	620	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747082237 CA4429440	622	L>W		No	ClinGen ExAC gnomAD
rs375751703 CA4429441	623	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429442 rs776574072	625	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	626	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164163069 rs932793892	628	M>R		No	ClinGen Ensembl
CA4429445 rs769595228	632	D>N		No	ClinGen ExAC
rs370109310 CA164163116	634	N>S		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs1263614656 CA368831042	638	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1386026651 CA368831112	641	R>*		No	ClinGen gnomAD
CA368831122 rs1224222532	641	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1008681076 CA164163156	643	I>T		No	ClinGen Ensembl
rs28763989 CA4429447 RCV000975162	643	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1228407344 CA368832207	645	V>I		No	ClinGen gnomAD
rs185704316 CA4429448	646	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368832255 rs1314661524	647	K>T		No	ClinGen TOPMed gnomAD
rs961738413 CA164163181	650	S>G		No	ClinGen TOPMed gnomAD
CA368832391 rs1189847916	652	E>D		No	ClinGen gnomAD
CA164163188 rs1003001250	653	D>E		No	ClinGen TOPMed
CA368832393 rs1408957080	653	D>N		No	ClinGen TOPMed
rs1254179954 CA368832406	653	D>V		No	ClinGen gnomAD
CA164163189 rs1015562772	654	D>G		No	ClinGen Ensembl
CA4429451 rs145539077	655	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs759069924 CA4429452	656	V>I		No	ClinGen ExAC gnomAD
CA4429453 rs764518673	658	H>Y		No	ClinGen ExAC gnomAD
CA4429454 rs370801896	661	L>I		No	ClinGen ESP ExAC gnomAD
CA164163226 rs897248624	665	Q>*		No	ClinGen Ensembl
TCGA novel	665	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	670	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770625280 CA4429472	672	Y>C		No	ClinGen ExAC
rs891418942 CA164165566	673	H>L		No	ClinGen TOPMed
CA368834083 rs1433218785	673	H>N		No	ClinGen TOPMed
CA368834156 rs1334992143	675	S>G		No	ClinGen gnomAD
rs758968659 CA4429474	676	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4429476 rs187473519	678	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1188973106 CA368834318	680	F>C		No	ClinGen TOPMed
TCGA novel	682	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762429861 CA4429477	682	L>Q		No	ClinGen ExAC gnomAD
rs1444356091 CA368834382	683	K>N		No	ClinGen gnomAD
rs964261208 CA164165614	684	R>C		No	ClinGen gnomAD
CA4429478 rs765837588	684	R>H		No	ClinGen ExAC gnomAD
CA368834388 rs765837588	684	R>L		No	ClinGen ExAC gnomAD
CA368834392 rs1485807487	685	G>C		No	ClinGen TOPMed
CA368834397 rs750877559	685	G>D		No	ClinGen ExAC gnomAD
CA368834391 rs1485807487	685	G>S		No	ClinGen TOPMed
CA4429479 rs750877559	685	G>V		No	ClinGen ExAC gnomAD
rs778461029 CA4429491 COSM200491	690	R>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs745475345 CA368834534 COSM1083810	691	I>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA368834538 rs745475345	691	I>S		No	ClinGen ExAC gnomAD
CA4429492 rs745475345	691	I>T		No	ClinGen ExAC gnomAD
rs771600769 CA4429493	692	G>D		No	ClinGen ExAC gnomAD
rs1240109448 CA368834572	694	F>I		No	ClinGen gnomAD
rs1478913019 CA368834603	695	L>F		No	ClinGen gnomAD
CA4429494 rs775103837	696	F>I		No	ClinGen ExAC gnomAD
TCGA novel	697	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467713993 CA368834640	697	W>C		No	ClinGen gnomAD
CA368834633 rs1428197771	697	W>L		No	ClinGen gnomAD
CA368834671 rs1160760959	699	L>S		No	ClinGen TOPMed gnomAD
CA368834673 rs1160760959	699	L>W		No	ClinGen TOPMed gnomAD
CA164165769 rs909524521	701	S>N		No	ClinGen Ensembl
TCGA novel	703	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416800274 CA368834733	703	I>V		No	ClinGen TOPMed
CA368834816 rs1185326681	708	H>R		No	ClinGen TOPMed
TCGA novel	710	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746490595 CA4429496	712	R>S		No	ClinGen ExAC gnomAD
rs773788683 CA4429499	714	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4429498 rs773788683	714	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1274418045 CA368834909	715	V>L		No	ClinGen gnomAD
rs1436026837 CA368834916	716	I>V		No	ClinGen TOPMed
CA368834924 rs1291906197	717	L>P		No	ClinGen TOPMed
CA4429501 rs199590448	720	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201832591 CA164165807	722	R>S		No	ClinGen 1000Genomes
CA4429502 rs201158285	723	G>A		No	ClinGen ExAC gnomAD
CA4429503 rs767631122	727	A>P		No	ClinGen ExAC gnomAD
rs752876335 CA4429504	728	M>I		No	ClinGen ExAC gnomAD
rs1335536656 CA368835007	729	L>Q		No	ClinGen TOPMed
CA4429506 rs756127057	730	H>Q		No	ClinGen ExAC gnomAD
CA164165817 rs1055978595	730	H>Y		No	ClinGen Ensembl
rs753731201 CA4429507	731	D>N		No	ClinGen ExAC gnomAD
rs148158603 CA4429508	733	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4429509 rs148158603	733	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs745616620 CA4429510	734	Q>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	735	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429511 rs758129365	736	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM94998 rs559655430 CA4429514	740	E>K	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4429516 rs766932104	741	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4429515 rs773882328	741	M>V		No	ClinGen ExAC gnomAD
rs371499467 CA4429517	743	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs759802616 CA368835328	749	I>S		No	ClinGen ExAC gnomAD
rs759802616 CA4429519	749	I>T		No	ClinGen ExAC gnomAD
rs767791735 CA4429520	750	K>R		No	ClinGen ExAC gnomAD
rs767791735 CA368835340	750	K>T		No	ClinGen ExAC gnomAD
CA368835356 rs1192858632	751	S>A		No	ClinGen gnomAD
COSM1699153 CA4429521 rs528601604	751	S>L	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
TCGA novel	756	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429524 rs753892685	757	Y>*		No	ClinGen ExAC gnomAD
rs1425543126 CA368835443	757	Y>H		No	ClinGen gnomAD
CA4429526 COSM598222 rs765080806	759	V>I	lung Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368835508 rs1290751197	761	S>F		No	ClinGen gnomAD
rs750246876 CA164166001	762	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA368835822 rs1383953399	764	I>T		No	ClinGen TOPMed gnomAD
rs1183462709 CA368835805	764	I>V		No	ClinGen gnomAD
rs761866043 CA4429542	766	Q>*		No	ClinGen ExAC gnomAD
rs1444727633 CA368835969	769	Q>E		No	ClinGen TOPMed
CA368836039 rs1562957887	770	K>R		No	ClinGen Ensembl
TCGA novel	772	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429543 rs765226775	772	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs182430488 CA4429544	774	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1460654215 CA368836224	775	Q>E		No	ClinGen gnomAD
CA4429545 rs144096589	776	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429546 rs766139507	778	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA368836411 rs1380291752	781	E>G		No	ClinGen TOPMed
CA4429550 COSM1083814 rs146675267	781	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	782	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755509194 CA4429551	782	S>N		No	ClinGen ExAC gnomAD
CA4429552 rs768503171	784	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1455910110 CA368836554	785	V>I		No	ClinGen TOPMed
rs267601224 CA164167463	786	P>S		No	ClinGen Ensembl
CA368836624 rs1562957951	787	Y>*		No	ClinGen Ensembl
CA164167469 rs933549322	787	Y>C		No	ClinGen Ensembl
rs772608579 CA4429554	789	P>A		No	ClinGen ExAC gnomAD
rs1377725634 CA368836669	789	P>L		No	ClinGen TOPMed
TCGA novel	790	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368836690 rs139231934	790	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4429555 RCV000886650 rs139231934	790	G>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1345056522 CA368836701	791	L>P		No	ClinGen gnomAD
CA368836812 rs143259740	795	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs945222564 CA368836802	795	A>P		No	ClinGen TOPMed gnomAD
rs945222564 CA164167511	795	A>S		No	ClinGen TOPMed gnomAD
rs945222564 CA368836799	795	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs143259740 CA4429557	795	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	797	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429559 rs761986714	797	A>V		No	ClinGen ExAC TOPMed gnomAD
CA368838430 rs1417406890	801	C>R		No	ClinGen gnomAD
rs1562959723 CA368838431	801	C>Y		No	ClinGen Ensembl
CA368838457 rs1415335136	803	V>I		No	ClinGen TOPMed
CA164171530 rs370847658	804	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs771008997 CA4429582	804	M>V		No	ClinGen ExAC gnomAD
COSM1699154 CA368838503 rs1184325643	805	A>T	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	808	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	809	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759433704 CA4429585	810	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA368838681 rs1472919027	812	W>C		No	ClinGen gnomAD
rs775329237 CA4429587	814	E>*		No	ClinGen ExAC gnomAD
rs760285042 CA4429588	814	E>V		No	ClinGen ExAC gnomAD
rs1417230401 CA368838744	815	F>C		No	ClinGen gnomAD
CA368838757 rs1584330133	816	K>*		No	ClinGen Ensembl
CA4429590 RCV001812949 rs370034420 COSM1220605	819	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA368838825 rs370034420	819	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	820	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368838851 rs1423364814	820	P>R		No	ClinGen gnomAD
rs756732301 CA4429591	821	T>A		No	ClinGen ExAC gnomAD
rs1300857779 CA368838863	821	T>I		No	ClinGen gnomAD
CA4429593 rs752014356	822	A>V		No	ClinGen ExAC
CA4429595 rs755456630	825	N>D		No	ClinGen ExAC gnomAD
rs748545866 CA4429597	829	G>E		No	ClinGen ExAC
rs777995710 CA4429599	830	I>S		No	ClinGen ExAC gnomAD
rs749336125 CA4429600	831	I>L		No	ClinGen ExAC gnomAD
rs771090910 CA4429601	832	F>L		No	ClinGen ExAC TOPMed gnomAD
CA368838989 rs1276962032	832	F>V		No	ClinGen gnomAD
CA368839020 rs1271625628	836	D>G		No	ClinGen TOPMed
TCGA novel	836	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429602 COSM85064 rs774448553	839	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA368839039 rs1484305297	839	R>H		No	ClinGen gnomAD
TCGA novel	842	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429603 rs757119720	846	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs754441790 COSM484599 CA164174111	849	R>*	kidney liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs746783339 CA4429623 COSM200492	849	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs776268370 CA4429625	851	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1455450052 CA368840079	854	I>V		No	ClinGen TOPMed
rs150845153 CA164174146	856	E>V		No	ClinGen ESP
rs28763991 CA4429626	857	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368840107 rs1430500907	858	E>K		No	ClinGen gnomAD
CA368840140 rs1418098605	862	L>Q		No	ClinGen TOPMed
CA368840142 rs1488506677	863	C>R		No	ClinGen gnomAD
CA4429627 rs769433254	863	C>Y		No	ClinGen ExAC gnomAD
rs1262555581 CA368840152	864	L>P		No	ClinGen gnomAD
rs1397052600 CA368840178	868	G>V		No	ClinGen TOPMed
rs1201639564 CA368840192	870	I>T		No	ClinGen gnomAD
CA368840189 rs1321567536	870	I>V		No	ClinGen gnomAD
CA164174177 rs368339400	871	S>P		No	ClinGen ESP TOPMed
CA4429628 rs772770447	872	T>A		No	ClinGen ExAC gnomAD
CA368840206 rs1240203022	873	G>R		No	ClinGen gnomAD
CA164174193 rs149553647	873	G>V		No	ClinGen ESP
rs561495434 CA4429631 COSM1447113	875	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1193168136 CA368840217	875	K>Q		No	ClinGen TOPMed gnomAD
rs767917765 CA4429630	875	K>R		No	ClinGen ExAC gnomAD
CA368840227 rs1427959397	876	I>V		No	ClinGen gnomAD
CA368840321 rs1302712513	877	G>E		No	ClinGen gnomAD
CA4429653 rs762208681	878	M>I		No	ClinGen ExAC gnomAD
TCGA novel	879	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4429655 COSM1083818 rs750632554	880	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4429656 rs758527855	881	I>T		No	ClinGen ExAC TOPMed gnomAD
rs751589329 CA4429658	882	V>A		No	ClinGen ExAC TOPMed gnomAD
rs373006568 COSM3254622 CA4429660	885	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA368840464 rs1320562794	888	I>V		No	ClinGen TOPMed
CA4429662 rs573193881	891	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111306935 CA164175006	898	N>D		No	ClinGen Ensembl
rs535355652 CA4429665	898	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1343056360 CA368840626	899	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	906	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368840814 rs1445560689	909	H>D		No	ClinGen gnomAD
CA4429667 rs745353551	909	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	911	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383854511 CA368840980	915	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1463689645 CA368840985	916	P>A		No	ClinGen gnomAD
CA4429681 rs749029489	923	A>V		No	ClinGen ExAC gnomAD
CA368841536 rs1178660309	927	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	929	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164175923 rs897697876	930	Y>*		No	ClinGen TOPMed gnomAD
CA368841604 rs1336026519	933	A>T		No	ClinGen gnomAD
CA4429683 rs200816202	934	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs200816202 CA4429682	934	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA164175945 COSM1727501 rs1035403350	935	Y>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1383713480 CA368841684	939	T>I		No	ClinGen TOPMed gnomAD
rs1383713480 CA368841682	939	T>N		No	ClinGen TOPMed gnomAD
rs745386444 CA4429684	942	L>I		No	ClinGen ExAC gnomAD
CA368841753 rs139361926	944	I>R		No	ClinGen ESP TOPMed gnomAD
CA164175974 rs139361926	944	I>T		No	ClinGen ESP TOPMed gnomAD
rs771667494 CA4429685	944	I>V		No	ClinGen ExAC gnomAD
rs770420473 CA4429688	954	I>V		No	ClinGen ExAC TOPMed gnomAD
CA368841842 rs1487014289	956	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	957	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164176052 rs1020098334	957	T>I		No	ClinGen Ensembl
rs1224958514 CA368841901	963	I>V		No	ClinGen gnomAD
CA368841925 rs1277491292	966	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1490190940 CA368841950	970	G>R		No	ClinGen gnomAD
CA368841970 rs1410344513	972	Y>*		No	ClinGen gnomAD
CA368841968 rs1197349651	972	Y>C		No	ClinGen gnomAD
COSM233106 CA4429703 rs370208108	979	N>S	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs746505564 CA4429704	981	E>*		No	ClinGen ExAC gnomAD
rs1460186533 CA368842089	982	R>K		No	ClinGen TOPMed gnomAD
CA368842114 rs1304506191	984	P>S		No	ClinGen gnomAD
TCGA novel	984	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770438878 CA4429705	986	V>L		No	ClinGen ExAC TOPMed
CA368842207 rs1200587068	990	D>G		No	ClinGen gnomAD
rs187255851 CA164177647	990	D>H		No	ClinGen 1000Genomes
rs1047971651 CA164177653	992	L>I		No	ClinGen TOPMed
rs771155289 CA4429708	993	F>C		No	ClinGen ExAC gnomAD
rs749697128 CA4429707	993	F>L		No	ClinGen ExAC TOPMed gnomAD
rs759713129 CA4429710	994	V>L		No	ClinGen ExAC gnomAD
CA164177705 rs200879596	995	M>L		No	ClinGen 1000Genomes
CA4429711 rs772274649	996	G>E		No	ClinGen ExAC gnomAD
rs775602332 CA4429712	999	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1000	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139918549 CA4429713	1003	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368842480 rs1222156502	1005	H>R		No	ClinGen TOPMed
rs1326802329 CA368816765	1012	I>V		No	ClinGen TOPMed gnomAD
rs201355541 CA368816779	1014	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA4429736 rs201355541	1014	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4429737 rs761695337	1015	K>N		No	ClinGen ExAC gnomAD
CA368816787 rs1387928733	1015	K>R		No	ClinGen TOPMed
CA4429738 rs765208119	1016	A>P		No	ClinGen ExAC gnomAD
rs772897589 CA4429739	1018	L>P		No	ClinGen ExAC TOPMed gnomAD
CA368816811 rs1436898471	1019	A>V		No	ClinGen gnomAD
CA368816820 rs142182764	1021	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376453517 COSM1447114 CA4429741	1021	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs376453517 CA368816821	1021	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM125376 rs142182764 CA4429740	1021	R>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1477217163 CA368816844	1025	N>H		No	ClinGen TOPMed
CA368816864 rs1337982755	1028	I>F		No	ClinGen gnomAD
rs1337982755 CA368816862	1028	I>L		No	ClinGen gnomAD
rs754657817 CA4429743	1029	I>V		No	ClinGen ExAC TOPMed gnomAD
rs766980797 CA4429744	1031	F>L		No	ClinGen ExAC
CA368816896 rs1446291886	1033	M>V		No	ClinGen gnomAD
CA368816905 rs1272092781	1034	M>V		No	ClinGen gnomAD
rs1448486570 CA368816915	1035	L>R		No	ClinGen TOPMed
CA368816931 rs1362910094	1037	T>R		No	ClinGen TOPMed gnomAD
CA4429745 rs752242795	1038	G>E		No	ClinGen ExAC gnomAD
rs757758894 CA4429746	1041	Q>*		No	ClinGen ExAC gnomAD
CA368816959 rs1461415145	1041	Q>H		No	ClinGen TOPMed
CA4429747 rs779414804	1044	S>N		No	ClinGen ExAC gnomAD
TCGA novel	1046	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368816996 rs1262374005	1047	D>N		No	ClinGen TOPMed
CA4429748 rs151166020	1049	E>D		No	ClinGen ESP ExAC
CA368817036 rs1205431023	1052	R>L		No	ClinGen TOPMed gnomAD
rs1205431023 CA368817034	1052	R>Q		No	ClinGen TOPMed gnomAD
COSM1447117 CA164129289 rs765204428	1052	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1258726641 CA368817069	1058	G>R		No	ClinGen gnomAD
CA4429750 rs780276379	1060	N>K		No	ClinGen ExAC TOPMed gnomAD
CA164129311 rs113001043	1062	E>K		No	ClinGen ESP gnomAD
CA164129315 rs113001043	1062	E>Q		No	ClinGen ESP gnomAD
CA4429751 rs151301577	1065	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368817167 rs1364732581	1071	Q>R		No	ClinGen TOPMed
rs1475518527 CA368817173	1072	I>V		No	ClinGen gnomAD
rs185548488 CA164129323	1073	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368817197 rs1177703689	1075	C>*		No	ClinGen gnomAD
CA368817196 rs1481147112	1075	C>F		No	ClinGen TOPMed gnomAD
CA368817194 rs1481147112	1075	C>Y		No	ClinGen TOPMed gnomAD
CA164129330 rs774297947	1077	D>E		No	ClinGen gnomAD
rs1406015040 CA368817206	1077	D>N	Variant assessed as Somatic; 9.242e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368817253 rs1320692784	1083	Q>R		No	ClinGen gnomAD
CA368817278 rs1346203324	1086	W>*		No	ClinGen gnomAD
rs999045633 CA164129345	1091	V>I		No	ClinGen TOPMed
rs1387909146 CA368817326	1094	I>V		No	ClinGen TOPMed
CA368817338 rs377318426	1095	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs542155244 CA4429757	1095	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1584352752 CA368817345	1096	Q>H		No	ClinGen Ensembl
CA368817350 rs1344211812	1097	G>E		No	ClinGen TOPMed gnomAD
rs370598588 CA4429759	1098	E>Q		No	ClinGen ESP ExAC TOPMed
rs1217443796 CA368817362	1099	K>E		No	ClinGen gnomAD
CA368817374 rs1447384134	1100	H>Q		No	ClinGen gnomAD
CA164129478 rs998400966	1103	A>E		No	ClinGen TOPMed

1 associated diseases with P48736

[MIM: 619802]: Immunodeficiency 97 with autoinflammation (IMD97)

An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. {ECO:0000269|PubMed:31554793, ECO:0000269|PubMed:33054089}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. {ECO:0000269|PubMed:31554793, ECO:0000269|PubMed:33054089}. Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for P48736

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain	203 - 312	IPR000341
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	797 - 1094	IPR000403
domain	Phosphoinositide 3-kinase, accessory (PIK) domain	541 - 733	IPR001263
domain	C2 phosphatidylinositol 3-kinase-type domain	349 - 521	IPR002420
domain	Phosphatidylinositol 3-kinase, adaptor-binding domain	34 - 141	IPR003113
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	832 - 846	IPR018936-1
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	931 - 951	IPR018936-2
domain	PIK3 catalytic subunit gamma, adaptor-binding domain	1 - 192	IPR045580

Functions

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

7 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

13 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.
ephrin receptor binding	Binding to an ephrin receptor.
identical protein binding	Binding to an identical protein or proteins.
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 activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
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.

40 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
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 cAMP	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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
dendritic cell chemotaxis	The movement of a dendritic cell in response to an external stimulus.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
hepatocyte apoptotic process	Any apoptotic process in a hepatocyte, the main structural component of the liver.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
mast cell degranulation	The regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell.
natural killer cell chemotaxis	The directed movement of a natural killer cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
negative regulation of cardiac muscle contraction	Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction.
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 triglyceride catabolic process	Any process that decreases the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of triglyceride.
neutrophil chemotaxis	The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
neutrophil extravasation	The migration of a neutrophil from the blood vessels into the surrounding tissue.
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 aggregation	The adhesion of one platelet to one or more other platelets via adhesion molecules.
positive regulation of acute inflammatory response	Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response.
positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of endothelial cell migration	Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
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 Rac protein signal transduction	Any process that activates or increases the frequency, rate or extent of Rac protein signal transduction.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of calcium ion transmembrane transport	Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport.
regulation of cell adhesion mediated by integrin	Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin.
respiratory burst involved in defense response	A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals.
secretory granule localization	Any process in which a secretory granule is transported to, and/or maintained in, a specific location within the cell.
sphingosine-1-phosphate receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by sphingosine-1-phosphate binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
T cell activation	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
T cell chemotaxis	The directed movement of a T cell in response to an external stimulus. A T cell is a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.
T cell proliferation	The expansion of a T cell population by cell division. Follows T cell activation.

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
P42336	PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Homo sapiens (Human)	PR
P42338	PIK3CB	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta 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
P42337	Pik3ca	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Mus musculus (Mouse)	PR
Q8BTI9	Pik3cb	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Mus musculus (Mouse)	PR
O35904	Pik3cd	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Mus musculus (Mouse)	PR
Q9JHG7	Pik3cg	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma 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
MELENYKQPV	VLREDNCRRR	RRMKPRSAAA	SLSSMELIPI	EFVLPTSQRK	CKSPETALLH
70	80	90	100	110	120
VAGHGNVEQM	KAQVWLRALE	TSVAADFYHR	LGPHHFLLLY	QKKGQWYEIY	DKYQVVQTLD
130	140	150	160	170	180
CLRYWKATHR	SPGQIHLVQR	HPPSEESQAF	QRQLTALIGY	DVTDVSNVHD	DELEFTRRGL
190	200	210	220	230	240
VTPRMAEVAS	RDPKLYAMHP	WVTSKPLPEY	LWKKIANNCI	FIVIHRSTTS	QTIKVSPDDT
250	260	270	280	290	300
PGAILQSFFT	KMAKKKSLMD	IPESQSEQDF	VLRVCGRDEY	LVGETPIKNF	QWVRHCLKNG
310	320	330	340	350	360
EEIHVVLDTP	PDPALDEVRK	EEWPLVDDCT	GVTGYHEQLT	IHGKDHESVF	TVSLWDCDRK
370	380	390	400	410	420
FRVKIRGIDI	PVLPRNTDLT	VFVEANIQHG	QQVLCQRRTS	PKPFTEEVLW	NVWLEFSIKI
430	440	450	460	470	480
KDLPKGALLN	LQIYCGKAPA	LSSKASAESP	SSESKGKVQL	LYYVNLLLID	HRFLLRRGEY
490	500	510	520	530	540
VLHMWQISGK	GEDQGSFNAD	KLTSATNPDK	ENSMSISILL	DNYCHPIALP	KHQPTPDPEG
550	560	570	580	590	600
DRVRAEMPNQ	LRKQLEAIIA	TDPLNPLTAE	DKELLWHFRY	ESLKHPKAYP	KLFSSVKWGQ
610	620	630	640	650	660
QEIVAKTYQL	LARREVWDQS	ALDVGLTMQL	LDCNFSDENV	RAIAVQKLES	LEDDDVLHYL
670	680	690	700	710	720
LQLVQAVKFE	PYHDSALARF	LLKRGLRNKR	IGHFLFWFLR	SEIAQSRHYQ	QRFAVILEAY
730	740	750	760	770	780
LRGCGTAMLH	DFTQQVQVIE	MLQKVTLDIK	SLSAEKYDVS	SQVISQLKQK	LENLQNSQLP
790	800	810	820	830	840
ESFRVPYDPG	LKAGALAIEK	CKVMASKKKP	LWLEFKCADP	TALSNETIGI	IFKHGDDLRQ
850	860	870	880	890	900
DMLILQILRI	MESIWETESL	DLCLLPYGCI	STGDKIGMIE	IVKDATTIAK	IQQSTVGNTG
910	920	930	940	950	960
AFKDEVLNHW	LKEKSPTEEK	FQAAVERFVY	SCAGYCVATF	VLGIGDRHND	NIMITETGNL
970	980	990	1000	1010	1020
FHIDFGHILG	NYKSFLGINK	ERVPFVLTPD	FLFVMGTSGK	KTSPHFQKFQ	DICVKAYLAL
1030	1040	1050	1060	1070	1080
RHHTNLLIIL	FSMMLMTGMP	QLTSKEDIEY	IRDALTVGKN	EEDAKKYFLD	QIEVCRDKGW
1090	1100
TVQFNWFLHL	VLGIKQGEKH	SA